11,108 results on '"JOINT hypermobility"'
Search Results
2. Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic.
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Slepian, P. Maxwell, Axenova, Kristina, McCarthy, Molly, Siegal, Rachel, Gobin, Keisha, Weinrib, Aliza, Buryk-Iggers, Stephanie, Santa Mina, Daniel, McGillis, Laura, Mittal, Nimish, Katz, Joel, and Clarke, Hance more...
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MENTAL health , *ANXIETY , *EHLERS-Danlos syndrome , *MEDICAL records , *MENTAL depression , *SOCIAL support , *HOSPITAL patients - Abstract
Past research has indicated that individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobililty Spectrum Disorder (G-HSD) report psychological and psychiatric symptoms, particularly anxiety disorders and depressive symptoms, at much greater rates than the general population. However, these studies have been primarily conducted in small samples at European centres. We report a retrospective chart review from 1035 consecutive patients (88% female) assessed for EDS/G-HSD at the GoodHope EDS Clinic at Toronto General Hospital between June 2019 and June 2021. Prior to assessment, all patients completed self-reported mental health screening questions, the Inventory of Depressive and Anxiety Symptoms – Dysphoria scale, and the Borderline Symptom List-23. The majority of patients reported current or past anxiety or depressive symptoms (53–87%), and a substantial minority reported significant mental health concerns, including Posttraumatic Stress Disorder (4.7–34.8%), disordered eating (19%), self-harm (3-29.2%), and suicidal behaviour (7.8–18.6%). Patients did not differ by diagnostic category on self-report measures of dysphoria or borderline symptoms. Individuals with G-HSD reported higher rates of anxiety and depression in clinical interview than those diagnosed with non-hypermobile EDS, and endorsed a higher rate of having "struggled with anxiety or depression" on the mental health screening questionnaire than individuals not diagnosed with EDS/G-HSD. No other differences emerged across diagnostic groups. These findings highlight the need for psychological support for individuals with EDS or G-HSD. [ABSTRACT FROM AUTHOR] more...
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- 2025
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3. Regulation of Joint Tissues and Joint Function: Is There Potential for Lessons to Be Learned Regarding Regulatory Control from Joint Hypermobility Syndromes?
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Hart, David A.
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MARFAN syndrome , *GENETIC mutation , *MECHANICAL failures , *EXTRACELLULAR matrix , *JOINT hypermobility , *PUBERTY - Abstract
Normal development of joints starts in utero with the establishment of a cellular and extracellular matrix template. Following birth, individual joint tissues grow and mature in response to biochemical and mechanical signals, leading to a coordinated pattern of further maturation resulting in a joint that functions as an organ system. Each joint develops and matures as an organ system defined by the biomechanical environment in which it will function. For those with joint hypermobility syndromes, either defined by specific genetic mutations or not (i.e., Ehlers–Danlos syndrome, Marfan syndrome, Loey–Dietz syndrome, hypermobility-type Ehlers–Danlos syndrome), this process is partially compromised, but many aspects of joint tissue maturation and resulting joint function is retained such that the organs form and retain partial function, but it is compromised. Comparing the characteristics of what is known regarding development, growth, maturation, and response to stressors such as puberty, pregnancy, and aging in joints of those without and with joint hypermobility leads to the conclusion that in those that have hypermobility syndromes, the joint systems may be compromised via a failure to undergo mechanical maturation, possibly via defective mechanotransduction. Given the breadth of the mutations involved in such hypermobility syndromes, further characterization of this concept may reveal commonalities in their impact on tissue maturation, which will further inform regulatory aspects of normal tissue and functional integrity. This review/perspective piece will attempt to detail such comparisons and summarize how further study will aid in further understanding. [ABSTRACT FROM AUTHOR] more...
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- 2025
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4. Efficacy and Complications of External Fixator-Assisted Correction in Cubitus Varus Deformity.
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Chauhan, Shrey, Gupta, Parmanand, and Soni, Ashwani
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FRACTURE fixation , *CLINICAL trials , *DESCRIPTIVE statistics , *OSTEOTOMY , *SURGICAL complications , *JOINT hypermobility , *ROTATIONAL motion , *SURGICAL instruments , *ELBOW joint , *JOINT instability - Abstract
Background: Untreated cubitus varus results in cosmetic deformity as well as posterolateral rotatory instability at the elbow if longstanding. French osteotomy with its modifications is the most commonly done osteotomy and relies on a medial intact hinge and these osteotomies fail to address the lateral prominence. Intraoperative fixator assistance to adjust the translation and fine tune the osteotomy is a novel method to address the lateral prominence. This prospective study analyses the efficacy of the same. Materials and Methods: A total of 16 consecutive patients presenting with unilateral cubitus varus resulting from mal-united supracondylar fracture of humerus were included. The humero-ulnar angle correction required, size of lateral closing wedge and amount of translation required were calculated. After a lateral surgical approach, one Schanz pin of size 2.5mm–3.5mm depending on age, was passed just above the level of distal humerus physis, lateral to medial; a second pin was inserted in the shaft of humerus, again lateral to medial. Pre-calculated wedge of bone was removed, angular correction as well as translation done; fine tuning of the osteotomy was achieved using fixator assistance. Rotational and hyperextension deformities were corrected simultaneously. Fixation of the osteotomy was done by multiple K wires or plates, depending on the age of the patient. Observation and Results: The mean carrying angle corrected to 10.4 degrees valgus from a preoperative value of 19.8 degrees varus. The mean humero-ulnar angle corrected to 9.6 degrees valgus from a preoperative value of 19.6 degrees varus. The mean lateral prominence index reduced to − 3.8% from a preoperative value of − 5.5%. The mean cosmetic correction score was 9 (Max 10) from a preoperative value of 1.9. No patient had an 'S' shaped deformity in the operated elbow. No nerve palsies were observed in any of the operated patients. Conclusions: Fixator assistance during surgery allows angular, translation and rotational control of the fragments to fully correct the deformity. It also allows fine tuning of the osteotomy during surgery. [ABSTRACT FROM AUTHOR] more...
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- 2025
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5. Provocation of brachial plexus and systemic symptoms during the elevated arm stress test in individuals with myalgic encephalomyelitis/chronic fatigue syndrome or idiopathic chronic fatigue.
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Edwards III, Charles C., Byrnes, Julia M., Broussard, Camille A., Azola, Alba M., Swope, Meghan E., Marden, Colleen L., Swope, Renee L., Lum, Ying Wei, Violand, Richard L., and Rowe, Peter C.
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THORACIC outlet syndrome , *ORTHOSTATIC intolerance , *CHRONIC fatigue syndrome , *MEDICAL sciences , *FATIGUE (Physiology) - Abstract
Background: We have noted that some adolescents and young adults with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) report difficulty with arms-overhead activities, suggestive of brachial plexus dysfunction or thoracic outlet syndrome (TOS). In the TOS literature, diagnostic maneuvers focus on the provocation of upper limb symptoms (arm fatigue and heaviness, paresthesias, neck and upper back pain), but not on elicitation of systemic symptoms. Objectives: To estimate the proportion of patients with fatiguing illness who experience local and systemic symptoms during a common maneuver used in evaluating TOS—the elevated arm stress test (EAST). Methods: Patients were eligible for this retrospective study if they had been referred to the Johns Hopkins Chronic Fatigue Clinic between January 2020 and July 2023 and (a) reported difficulty maintaining arms-overhead postures, (b) were evaluated with an abbreviated one-minute EAST, and (c) had not undergone surgery in the upper limb, neck, or skull base. Modified EAST procedure: patients sat with their arms in a "hands up" or "candlestick" position while opening and closing their hands every 2–3 s repeatedly for 1 min, rather than the customary 3 min. The test was considered abnormal for local symptoms if the participant experienced pain, fatigue, heaviness, paresthesias, warmth or tremulousness in the upper limb, shoulder, neck, head, or upper back. The test was considered abnormal for systemic symptoms if the participant experienced overall fatigue, cognitive fogginess, lightheadedness, racing heart, diaphoresis, dyspnea, overall warmth, or nausea. Results: Of 154 patients evaluated during the study period, 64 (42%) met the eligibility criteria (61/64 female, median age 18 years [range, 13 to 50]). Of the 64, 50 (78%) had ME/CFS, 13 (20%) had idiopathic chronic fatigue with associated orthostatic intolerance (OI), and one had idiopathic chronic fatigue without OI. Of the 64, 58% had evidence of joint hypermobility. Local symptoms were provoked by EAST in 62/64 (97%) within a median of 20 s. During EAST, 26/64 (41%) reported systemic symptoms (1 had only systemic but no upper limb symptoms), most commonly lightheadedness (19%) and generalized fatigue (11%). Conclusions: Even with an abbreviated test duration, the EAST maneuver provoked local and systemic symptoms in a substantial proportion of patients with chronic fatigue, OI, and ME/CFS who had reported difficulty with arms-overhead postures. Further studies are needed to explore the prevalence of brachial plexus or TOS symptoms in unselected individuals with ME/CFS or OI, and the proportion with systemic symptoms during and after EAST. [ABSTRACT FROM AUTHOR] more...
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- 2025
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6. Impact of generalized joint hypermobility on quality of life and physical activity in school-aged children: a longitudinal study.
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Ituen, Oluwakemi A., Akwaowo, Christie D., Ferguson, Gillian, Duysens, Jacques, and Smits-Engelsman, Bouwien
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JOINT hypermobility , *PHYSICAL fitness , *PHYSICAL activity , *PHYSICAL mobility , *SCHOOL children - Abstract
Background: Generalized Joint Hypermobility (GJH) offers flexibility that could enhance motor activities. However, if it leads to injury and pain, it increases functional difficulties and activity limitations. The far-reaching consequences of activity limitations and restricted participation include poor physical fitness and diminished quality of life. This study investigated whether variations in joint mobility are associated with physical activity levels, physical fitness, and overall quality of life (QoL) among children and whether these factors change over a 2-year period. Method: One hundred and sixty-five school-aged children were recruited at the beginning of a two-year longitudinal study. One hundred and eleven children were measured three times at one-year intervals. Joint mobility was classified as normal mobile, mobile, or hypermobile. The children were administered the FACES pain scale, the child activity limitation interview, a physical activity questionnaire, and the pediatric quality of life inventory questionnaire. Additionally, the 20-meter shuttle run was used to estimate aerobic fitness. Results: In this study, pain was unrelated to joint mobility. The activity limitations of our study population were not different at baseline or at the end of the study, irrespective of joint mobility. Children with GJH had significantly lower physical activity levels at the end of the study. Overall, QoL increased over time, and aerobic capacity decreased. However, changes in children with GJH were not significantly different from those in children with normal mobility in this respect. Conclusion: Children with GJH were moderately active, however significantly less than children with normal mobility. Joint mobility had no significant effect on activity limitations, physical fitness or QoL. Significance: What is known? • Increased joint mobility reduces physical activity levels. What is new? • Children with GJH were not more limited in their activities than those with normal mobility, as measured by the activity limitation interview. • Children with GJH do not have a greater risk of developing pain-related activity limitations. • The quality of life did not differ between children with and without GJH. [ABSTRACT FROM AUTHOR] more...
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- 2025
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7. Medial Patellofemoral Ligament Repair with Suture Tape Augmentation Can Yield Good Midterm Clinical Outcomes Regardless of Skeletal Maturity and Joint Laxity.
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Takada, Shinichiro, Nakashima, Hirotaka, Nakayama, Keisuke, and Uchida, Soshi
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JOINT hypermobility , *SKELETAL maturity , *KNEE osteoarthritis , *TREATMENT effectiveness ,PATELLA dislocation - Abstract
While several studies have reported short-term clinical outcomes after medial patellofemoral ligament (MPFL) repair with suture tape augmentation, there is still a dearth of knowledge regarding midterm clinical outcomes. This study aimed to evaluate the midterm clinical outcomes of MPFL repair with suture tape augmentation in patients with patellar dislocation. We retrospectively reviewed the clinical records of patients who underwent MPFL repair with suture tape augmentation for at least one episode of patellar dislocation between 2015 and 2020. Patient-reported clinical outcomes (PROs) were evaluated via the International Knee Documentation Committee (IKDC) score and the knee injury osteoarthritis outcome score (KOOS). In total, 17 knees (4 males and 13 females) who underwent MPFL repair with suture tape augmentation with a mean follow-up of 54.6 ± 19.5 months were included in this study. PROs significantly improved from preoperatively to the final follow-up (IKDC score: 50.7 ± 26.6 vs. 88.8 ± 13.0, p < 0.001; KOOS: 68.8 ± 23.3 vs. 91.2 ± 8.4, p = 0.011) without reducing the patient's activity level at the final follow-up (UCLA AS score: 7.9 ± 2.4 at preinjury vs. 7.9 ± 2.2 at the final follow-up, p = 0.655). Subgroup analysis revealed good postoperative outcomes, regardless of the patient's skeletal maturity or the presence or absence of generalized laxity. In conclusion, MPFL repair with suture tape augmentation is a safe and effective treatment for midterm follow-up. [ABSTRACT FROM AUTHOR] more...
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- 2025
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8. Exploring the Link between Generalised Ligament Laxity and Flexible Flatfoot in Paediatric and Adolescent Populations: A Case-control Study.
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YADAV, ASHISH, ARIMBOOTH, SHALU, MURALEEDHARAN, AVINASH, and CHAUBEY, SHWETA
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JOINT hypermobility , *FLATFOOT , *RANGE of motion of joints , *PHYSICAL medicine , *CHI-squared test - Abstract
Introduction: Flatfoot, or pes planus, is a postural deformity resulting from the inadequate development of the Medial Longitudinal Arch (MLA) of the foot. Generalised ligament laxity is the most important aetiological factor among various predisposing factors. Previous research has explored these conditions independently rather than investigating their potential association. This study focuses on understanding how generalised ligament laxity contributes to flexible flatfoot, which could provide valuable insights that have not been thoroughly explored in paediatric and adolescent populations. Aim: To determine the association between flexible flatfoot and generalised ligament laxity in paediatric and adolescent populations. Materials and Methods: This case-control study was conducted on 180 patients attending the Physical Medicine and Rehabilitation (PMR) Outpatient Department (OPD), aged 5 to 19 years, from September 2019 to March 2021. Footprints were taken from the subjects and a flatfoot assessment was performed using Staheli's plantar arch index. The Jack test was conducted in all flatfoot subjects to exclude rigid flatfoot. All patients with flexible flatfoot were enrolled as cases, while those without flatfoot were enrolled in the control group. Both groups were further evaluated using the Beighton Score for the presence of generalised ligament laxity and results were recorded. Demographic factors were expressed as frequencies, and quantitative data were presented as median with 25th and 75th percentiles (IQR=interquartile range). Differences in qualitative variables between the groups were analysed using the Chi-square test. Results: Out of the 180 subjects, 126 (70%) were male, and the majority, 108 (60%), were aged 11 to 19 years, with a mean ± SD age of 11.46±3.1 years. The proportion of ligament laxity was higher in cases 30 (41.67%) than in controls 20 (18.52%), and this association was statistically significant (p-value=0.016). Patients with flatfoot had a 3.14 times higher chance of having ligament laxity than those lacking flatfoot, which was statistically significant. Conclusion: Children and adolescents with increased generalised ligament laxity are more predisposed to the development of flexible flatfoot compared to those without ligament laxity. [ABSTRACT FROM AUTHOR] more...
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- 2025
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9. Surgical management of severe planovalgus foot deformity in children with generalised joint hypermobility.
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Alhassan, Mohammed Salman, Park, Byoung Kyu, Shah, Mudit, Park, Kun-Bo, Park, Hoon, Rhee, Isaac, and Kim, Hyun Woo
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JOINT hypermobility , *FOOT abnormalities , *CHILDREN'S health , *OSTEOTOMY , *FOLLOW-up studies (Medicine) - Abstract
This study aimed to evaluate the outcomes of calcaneal lengthening osteotomy (CLO) and double arthrodesis of the talonavicular and calcaneocuboid joints (DA) for correcting planovalgus foot deformity exclusively in patients with generalised joint hypermobility. We retrospectively reviewed 29 feet in 17 consecutive patients who underwent either CLO or DA. The mean age at surgery was 11.3 ± 2.3 years, and the mean follow-up duration was 7.7 ± 3.2 years. Preoperative and final follow-up radiographs and dynamic foot-pressure measurements were analysed. Both operations significantly improved the radiographic parameters, except for the lateral talocalcaneal angle in the CLO group. Pedobarographic study demonstrated an elevation of the medial longitudinal arch and an improved foot-pressure distribution after both surgeries. The plantar pressure in the lateral forefoot significantly increased only in the DA group, while the pressures exerted on the medial forefoot and hindfoot and the arch index improved only in the CLO group. Both CLO and DA effectively improve the foot alignments of the deformity in patients with generalised joint hypermobility. However, differences were observed in the changes in the lateral talocalcaneal angle and plantar pressure distribution between the two procedures. Therapeutic Level III. [ABSTRACT FROM AUTHOR] more...
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- 2025
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10. Is Generalized Joint Hypermobility Associated with Chronic Painful Temporomandibular Disorders in Young Adults? A Cross-Sectional Study.
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Barbosa, Cláudia, Gavinha, Sandra, Soares, Tânia, Reis, Tiago, and Manso, Conceição
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JOINT hypermobility , *MUSCULOSKELETAL system diseases , *TEMPOROMANDIBULAR disorders , *YOUNG adults , *RANGE of motion of joints - Abstract
Background/Objectives: Generalized joint hypermobility (GJH) is a common condition characterized by an increased range of motion across multiple joints. Previous studies have suggested a possible association between GJH and temporomandibular disorders (TMDs). This study aimed to assess the prevalence of GJH in a Portuguese population of young university adults and to explore the relationship between GJH, temporomandibular joint (TMJ) symptoms/clinical findings, chronic painful TMDs, and chronic painful TMDs subtypes (myalgia, arthralgia, or combined myalgia and arthralgia). Methods: A cross-sectional study was carried out in Oporto university institutions, involving 1249 students (18–25 years). GJH was assessed using the Beighton score cut-off ≥ 4. TMJ symptoms and clinical findings were collected using the Research Diagnostic Criteria for TMD protocol, as well as TMD diagnoses. Univariate and multivariate analyses were carried out to examine the associations between GJH and the variables of interest. Results: The overall prevalence of GJH was 41.9%, with females exhibiting a significantly higher likelihood of GJH (p < 0.001). A statistically significant association was found between GJH and TMJ clicking (p < 0.05). Although no overall association was found between GJH and chronic painful TMDs, GJH was significantly associated with the combined diagnosis of myalgia and arthralgia (p < 0.05). Conclusions: The results suggest that GJH may be associated with the more complex subtypes of chronic painful TMDs. However, due to the small size effect of this association, future longitudinal studies with large samples using GJH broader diagnostic criteria are essential to elucidate the relationship between GJH and painful TMDs in asymptomatic nonsyndromic joint hypermobility populations. [ABSTRACT FROM AUTHOR] more...
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- 2025
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11. Biomechanical comparison of four isometric prosthetic ligament repair techniques for tarsal medial collateral ligament injury.
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Chanutin, Sidney, Johnson, Matthew D., Travers, C. J., Gillick, Mitchell S., Colee, James, and Banks, Scott A.
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MEDIAL collateral ligament (Knee) , *COLLATERAL ligament injuries , *JOINT hypermobility , *SUTURING , *ULTIMATE strength - Abstract
OBJECTIVE To compare the stability, ultimate strength, and isometry of 4 prosthetic ligament repairs for canine tarsal medial collateral ligament injury. METHODS 24 cadaveric canine distal hind limbs with induced medial tarsal instability were randomly divided into 4 groups. Simulated medial shearing injury of the collateral and medial malleolus were repaired using 1 of 4 isometric suture techniques: bone tunnels with nylon suture (TN), ultrahigh-molecular-weight polyethylene (UHMWPE) suture (TU), tibial bone anchor with nylon suture (AN), or talar bone anchor with UHMWPE suture (AU). Each repair was evaluated for medial stability before and after cyclic range of motion. 3 of 4 repair configurations allowed string potentiometer isometry data collection during cyclic range of motion. Each construct was subsequently tested to failure; the strength and failure mode were recorded. RESULTS All repair groups showed statistically increased laxity compared to intact ligament. There was no difference in joint laxity between repair techniques. Cyclic range-of-motion testing did not increase joint laxity at any tested joint angle. Strength to failure was no different between repair groups. Isometry was achieved in the TU and TN groups. CONCLUSIONS All 4 techniques improved medial stability compared to that medial collateral ligament injury; however, no technique returned stability to the tarsal of the intact ligament. All 4 techniques maintained stability after range-of-motion testing. Isometric placement of the prosthetic suture was achievable. The constructs did not provide sufficient resistance to physiologic valgus stress. CLINICAL RELEVANCE Isometric placement of a prosthetic ligament is possible; secondary stabilization appears necessary to support the repair postoperatively. [ABSTRACT FROM AUTHOR] more...
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- 2025
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12. Anatomic Risk Factors for Initial and Secondary Noncontact Anterior Cruciate Ligament Injury: A Prospective Cohort Study in 880 Female Elite Handball and Soccer Players.
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Kamatsuki, Yusuke, Qvale, Marie Synnøve, Steffen, Kathrin, Wangensteen, Arnlaug, and Krosshaug, Tron
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INJURY risk factors , *SPORTS injuries risk factors , *SOCCER , *ANTERIOR cruciate ligament injuries , *RESEARCH funding , *T-test (Statistics) , *ANTERIOR cruciate ligament , *DESCRIPTIVE statistics , *CHI-squared test , *LONGITUDINAL method , *KNEE joint , *JOINT hypermobility , *HANDBALL , *ANTHROPOMETRY , *DATA analysis software , *RANGE of motion of joints , *DISEASE risk factors - Abstract
Background: Anterior cruciate ligament (ACL) injury is one of the most severe injuries for athletes. It is important to identify risk factors because a better understanding of injury causation can help inform athletes about risk and increase their understanding of and motivation for injury prevention. Purpose: To investigate the relationship between anatomic factors and risk for future noncontact ACL injuries. Study Design: Cohort study; Level of evidence, 2. Methods: A total of 870, excluding 9 players with a new contact ACL injury and a player with a new noncontact ACL injury just before the testing, female elite handball and soccer players—86 of whom had a history of ACL injury—underwent measurements of anthropometrics, alignment, joint laxity, and mobility, including leg length, knee alignment, knee anteroposterior laxity, generalized joint hypermobility, genu recurvatum, and hip anteversion. All ACL injuries among the tested players were recorded prospectively. Welch t tests and chi-square tests were used for comparison between the groups (new injury group, which sustained a new ACL injury in the follow-up period, and no new injury group). Results: An overall 64 new noncontact ACL injuries were registered. No differences were found between athletes with and without a new ACL injury among most of the measured variables. However, static knee valgus was significantly higher in the new injury group than in the no new injury group among all players (mean difference [MD], 0.9°; P =.007), and this tendency was greater in players with a previous ACL injury (MD, 2.1°; P =.002). Players with secondary injury also had a higher degree of knee hyperextension when compared with those previously injured who did not have a secondary injury (MD, 1.6°; P =.007). Conclusion: The anatomic factors that we investigated had a weak or no association with risk for an index noncontact ACL injury. Increased static knee valgus was associated with an increased risk for noncontact ACL injury, in particular for secondary injury. Furthermore, hyperextension of the knee was a risk factor for secondary ACL injury. [ABSTRACT FROM AUTHOR] more...
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- 2025
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13. 'QuickDASH' to find unique genes and biological processes associated with shoulder osteoarthritis: a prospective case–control study.
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Lynskey, Samuel J., Gill, Stephen D., McGee, Sean L., Ziemann, Mark, and Page, Richard S.
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SHOULDER osteoarthritis , *TOTAL shoulder replacement , *MEDICAL sciences , *JOINTS (Anatomy) , *COMPLEMENT (Immunology) , *SHOULDER , *JOINT hypermobility - Abstract
Objective: Osteoarthritis (OA) is a disease impacting the synovial joint complex, yet transcriptional changes specific to shoulder OA remain underexplored. This study aims to profile transcriptomic changes in periarticular tissues from patients undergoing shoulder replacement for OA. By correlating these profiles with QuickDASH scores—a validated measure of worsening shoulder function—this research seeks to understand the gene expression changes associated with clinical decline. Capsular tissue biopsies from shoulder OA patients were compared with those from a control group undergoing shoulder stabilization for recurrent instability. This investigation forms part of a larger transcriptomic analysis of painful shoulder conditions which will address the current gap in knowledge regarding the molecular and genetic underpinnings of shoulder OA, rotator cuff tears and cuff-tear arthropathy. Results: The analysis revealed that genes most strongly associated with increasing QuickDASH scores across tissues were linked to inflammation and stress response. Key pathways involved interleukins, chemokines, complement components, nuclear response factors, and immediate early response genes, reflecting a balance between pro- and anti-inflammatory signalling. Additionally, this study identified unique gene expression patterns in shoulder OA not previously observed in hip and knee OA, along with novel genes implicated in shoulder OA, highlighting areas for future targeted investigation. Trial registration This investigation has been registered with the Australian New Zealand Clinical Trials Registry (ANZCTR), registered on the 26th of March 2018, registration number: 12618000431224, accessible from: https://anzctr.org.au/Trial/Registration/TrialReview.aspx?id=374665&isReview=true [ABSTRACT FROM AUTHOR] more...
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- 2024
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14. Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.
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Olsen, Tilde, Ek, Jakob, Bak, Mads, Grønskov, Karen, Bache, Iben, Farholt, Stense, and Tümer, Zeynep
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GENETIC techniques , *WHOLE genome sequencing , *GENETIC testing , *GROWTH disorders , *JOINT hypermobility , *TRISOMY - Abstract
ABSTRACT Maternal uniparental disomy of chromosome 14, upd(14)mat, leads to Temple syndrome (TS), an imprinting disorder characterized by pre‐ and postnatal growth retardation, hypotonia, motor delay, joint laxity, and precocious puberty. The occurrence of upd(14)mat is rare, and it may, in even rarer cases, co‐occur with trisomy 14 mosaicism. To date, only 11 live‐born cases have been reported in the literature. We present a newborn girl with severe hypotonia, global developmental delay, feeding difficulties, dysmorphic features, and cardiac malformations. Using trio whole genome sequencing (WGS) no causative sequence or structural variants were detected. As a chromosomal disorder was suspected the data was further analyzed with a pipeline including analysis of UPD and low‐level mosaicism, which revealed upd(14)mat and low level trisomy 14 mosaicism. This study underscores the significance of advanced genetic testing techniques, thorough data interpretation, and expert clinical evaluation in diagnosing rare disorders with complex molecular mechanisms. [ABSTRACT FROM AUTHOR] more...
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- 2024
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15. Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation.
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Yuanjiao Du, Xinyu Fan, Chunyu Song, Weiping Chang, Juan Xiong, Lin Deng, and Wei-Ke Ji
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JOINT hypermobility , *FACIAL abnormalities , *MISSENSE mutation , *DEVELOPMENTAL delay , *COLLAGEN , *AIR freight - Abstract
VPS13B/COH1 is the only known causative factor for Cohen syndrome, an early-onset autosomal recessive developmental disorder with intellectual inability, developmental delay, joint hypermobility, myopia, and facial dysmorphism as common features, but the molecular basis of VPS13B/COH1 in pathogenesis remains largely unclear. Here, we identify Sec23 interacting protein (Sec23IP) at the ER exit site (ERES) as a VPS13B adaptor that recruits VPS13B to ERES-Golgi interfaces. VPS13B interacts directly with Sec23IP via the VPS13 adaptor binding domain (VAB), and the interaction promotes the association between ERES and the Golgi. Disease-associated missense mutations of VPS13B-VAB impair the interaction with Sec23IP. Knockout of VPS13B or Sec23IP blocks the formation of tubular ERGIC, an unconventional cargo carrier that expedites ER-to-Golgi transport. In addition, depletion of VPS13B or Sec23IP delays ER export of procollagen, suggesting a link between procollagen secretion and joint laxity in patients with Cohen disease. Together, our study reveals a crucial role of VPS13B-Sec23IP interaction at the ERES-Golgi interface in the pathogenesis of Cohen syndrome. [ABSTRACT FROM AUTHOR] more...
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- 2024
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16. Relationship between Kinesthesia and Motor Performance in Young Adults with Generalized Joint Hypermobility: A Systematic Review.
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Unnikrishnan, Radhakrishnan, Alagesan, Jagatheesan, Alzhrani, Msaad, Alanazi, Ahmad, Sirajudeen, Mohamed Sherif, Ateef, Mahamed, Hasan, Shahnaz, Miraj, Mohammad, Muthusamy, Hariraja, and Alqahtani, Mazen more...
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JOINT hypermobility , *YOUNG adults , *MUSCULAR sense , *BODY mass index - Abstract
ABSTRACT: This study was conducted to investigate the relationship between kinesthesia and motor performance in young adults with generalized joint hypermobility (GJH). A systematic review was conducted in accordance with the PRISMA guidelines. PubMed, Embase, Cochrane Library, Web of Science, PsycINFO, CINAHL, Scopus, and Google Scholar were scoured to select relevant papers. Ten papers were selected for the review. The study found no significant impact of GJH on the kinesthetic domains. Several studies suggested varying impacts of GJH on motor performance, with some indicating potential benefits and others indicating possible detriments. Interestingly, the impact of GJH on motor performance was found to be influenced by other factors such as fitness, body mass index, and the use of specific assessment tools. The results suggest that GJH does not significantly impact motor performance in young adults. However, the relationship between GJH and motor performance appears to be complex and may be influenced by several other factors. [ABSTRACT FROM AUTHOR] more...
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- 2024
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17. Different intraoperative joint laxity patterns do not impact clinical outcomes in robotic‐assisted medial unicompartmental knee replacement with 1‐to‐1 surface reconstruction.
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Innocenti, Matteo, Leggieri, Filippo, Theus‐Steinman, Carlo, Moya‐Angeler, Joaquin, Christen, Bernhard, and Calliess, Tilman
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JOINT hypermobility , *TOTAL knee replacement , *SURFACE reconstruction , *TREATMENT effectiveness , *KNEE - Abstract
Purpose: Robotic‐assisted technology in medial unicompartmental knee arthroplasty (mUKA) allows for customized adjustments of joint laxity through virtual preoperative component positioning before bone preparation. Nevertheless, the optimal balancing curve has yet to be delineated. This study sought to investigate if varying intraoperative knee laxity patterns had any impact on postoperative patient outcomes. Materials and Methods: A retrospective analysis was conducted on prospectively collected data from 326 fixed‐bearing RAUKA procedures performed between 2018 and 2022 with a minimum 2‐year follow‐up. Patients were categorized into three cohorts based on intraoperative joint laxity patterns (millimetres of joint gap during valgus stress) imparted at 20°, 60°, 90° and 120° of knee flexion: cohort 1 < +0.5 mm (tight); cohort 2 between 0.6 and 1.9 mm (physiologic); cohort 3 > 2 mm (loose). Wilcoxon and Kruskal–Wallis tests were conducted to assess patient‐reported outcome measure (PROM) improvements and preoperative and postoperative differences across the cohorts. A Spearman's test evaluated the correlation between knee balance at all degrees of flexion and preoperative and postoperative HKA. Results: No differences in preoperative and postoperative PROMs were identified across the cohorts (p > 0.05). All three cohorts with different joint laxity patterns showed a significant improvement in the postoperative PROMS (p < 0.05). The preoperative or postoperative limb alignment did not significantly affect clinical outcomes relative to different laxity patterns. Conclusion: No differences were found in the outcomes across different joint laxity patterns in robotic‐assisted medial UKA using fixed‐bearing mUKAs. There was no evident advantage for maintaining a closer to physiologic laxity compared to tighter or looser balancing. Level of Evidence: Level III, therapeutic study. [ABSTRACT FROM AUTHOR] more...
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- 2024
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18. Influence of the Initial Guess on the Estimation of Knee Ligament Parameters via Optimization Procedures.
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Theodorakos, Ilias and Andersen, Michael Skipper
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KNEE joint , *JOINT hypermobility , *LIGAMENTS , *KINEMATICS - Abstract
Optimization procedures provide ligament parameters by minimizing the difference between experimental measurements and computational simulations. Literature values are used as initial guesses of ligament parameters for these optimization procedures. However, it remains unknown how these values affect the estimation of ligament parameters. This study evaluates the effects of the initial guess on estimations of ligament parameters. A synthetic data set was generated using a subject-specific knee computational model, reference ligament parameters and simulated laxity tests. Subsequently, ligament parameters were estimated using an optimization routine and four different initial guesses. The distance of these initial guesses from their true values ranged from 0 to 3.5 kN and from 0 to 3.6% for the stiffness and reference strains, respectively. The optimized ligament parameters had an average absolute mean error ranging from 0.15 (0.09) kN and 0.08 (0.04)% to 3.67 (2.46) kN and 1.25 (0.76)%, while the kinematic error remained below 1 mm and 1.2° for all conditions. Our results showed that the estimations of the ligament parameters worsened as the initial guesses moved farther away from their true values. Moreover, the optimization procedure resulted in suboptimal ligament parameters that provided similar behavior to the true laxity behavior, which is an alarming finding that should be further investigated. [ABSTRACT FROM AUTHOR] more...
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- 2024
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19. Proprioception and its relationship with range of motion in hypermobile and normal mobile children.
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Ituen, Oluwakemi A., Smits-Engelsman, Bouwien, Ferguson, Gillian, and Duysens, Jacques
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JOINT hypermobility , *SITTING position , *PROPRIOCEPTION , *RANGE of motion of joints , *STANDING position - Abstract
To investigate differences in proprioception using four proprioceptive tests in children with and without hypermobility. Additionally, it was tested if the results on one proprioceptive test predict the results on the other tests. Of the children (8-11years), 100 were classified as normal mobile (Beighton score 0–4) and 50 as hypermobile (Beighton score 5–9). To test proprioception, in the upper extremity the unilateral and bilateral joint position reproduction tasks were used and for the lower extremity the loaded and unloaded wedges task. No differences were found in any of the proprioception tests between the two groups. Estimating the height of the wedges was easier in the loaded position (mean penalty in standing and sitting position, 4.78 and 6.19, respectively). Recalling the elbow position in the same arm resulted in smaller errors compared to tasks reproducing the position with the contralateral arm. Of the four angles used (110°, 90°, 70°, 50°), the position recall in the 90° angle had the smallest position error (1.8°). Correlations between the proprioception tests were weak (Loaded and Unloaded (r 0. 28); Uni and Bilateral (r 0.39), Upper and Lower extremity not significant). No indication of poorer proprioception was found in children with hypermobile joints compared to their normal mobile peers. Loading gives extra information that leads to fewer errors in the wedges task performed while standing, but this effect is independent of joint mobility. Proprioception test outcomes are dependent on the test used; upper extremity results do not predict lower extremity outcomes or vice versa. [ABSTRACT FROM AUTHOR] more...
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- 2024
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20. Skin fragility and wound management in Ehlers–Danlos syndromes: a report by the International Consortium on Ehlers–Danlos Syndromes and Hypermobility Spectrum Disorders Skin Working Group.
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Angwin, Chloe, Doolan, Brent J, Hausser, Ingrid, Labine, Barry, Lavallee, Mark, Mackay, Donald, Pope, F Michael, Seneviratne, Suranjith L, Winship, Ingrid, and Burrows, Nigel P
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SKIN injuries , *JOINT hypermobility , *COMPRESSION bandages , *CONNECTIVE tissues , *CONSORTIA - Abstract
The Ehlers–Danlos syndromes (EDSs) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility and generalized tissue fragility. In all types of EDS, skin wound healing is impaired to a variable degree. Additional support through wound management plans may help to improve these outcomes; however, there is a paucity of evidence regarding clinical management of skin fragility and wounds in EDS. This paper aims to review current evidence and provide recommendations for management of skin wounds in EDS types. Preventative measures to avoid skin injury are strongly recommended, including avoidance of high-impact sports and use of appropriate protection such as shin guards. Bruising is common, and some types of EDS are associated with haematoma formation, with management including compression bandages and consideration of pharmacological therapy. Skin fragility and tears should be managed with a focus on protection of remaining tissue, avoidance of wound tension and low-adherence dressings to avoid further injury. This paper provides clear recommendations to address skin management for this group of patients. It highlights the lack of good-quality published data to support treatment decisions. [ABSTRACT FROM AUTHOR] more...
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- 2024
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21. Uncovering the alterations in extrinsic foot muscle mechanical properties and foot posture in fibromyalgia: a case-control study.
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Ornek, Ceren, Coskun Benlidayi, Ilke, and Sariyildiz, Aylin
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JOINT hypermobility , *POSTURE disorders , *MUSCLE tone , *TIBIALIS anterior , *FIBROMYALGIA - Abstract
Objectives: The aim of the study was to evaluate foot posture and the mechanical properties of extrinsic foot muscles in fibromyalgia. Methods: Patients with fibromyalgia (n = 86) and age- and gender-matched controls (n = 41) were included in the study. Foot Posture Index (FPI), Beighton and Brighton criteria were used to evaluate static foot posture, joint hypermobility, and benign joint hypermobility syndrome (BJHS), respectively. Tonus, elasticity, and stiffness of the extrinsic foot muscles including gastrocnemius medialis, tibialis anterior, and peroneus longus were measured by the MyotonPRO® device. Foot function, quality of life, and physical activity level were assessed by the Foot Function Index (FFI), Short Form-36 (SF-36), and the International Physical Activity Questionnaire-Short Form (IPAQ-SF), respectively. Results: The frequency of abnormal foot posture in the fibromyalgia and control groups was 68.6% versus 39%, respectively; and neutral foot posture was approximately twice as prevalent in the control group compared to the fibromyalgia group (p = 0.006). Pronated foot posture was the most common abnormality in fibromyalgia (61.6%) and observed in 85.5% of the patients with joint hypermobility and in 87.1% of those meeting BJHS criteria. The elasticity of peroneus longus at rest and the elasticity of tibialis anterior in the standing position were significantly different between the fibromyalgia group and the control group [1.08 (0.22) vs. 1.02 (0.25), p = 0.037 and 0.92 (0.29) vs. 0.87 (0.24), p = 0.011, respectively]. Regarding the fibromyalgia group, no difference was detected among foot posture groups in terms of myotonometric data. Conclusions: Pronation foot posture is common in fibromyalgia with a much higher frequency in fibromyalgia patients with hypermobility. In daily clinical practice for fibromyalgia, particular attention should be given to foot alignment. [ABSTRACT FROM AUTHOR] more...
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- 2024
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22. Physiologic Preoperative Knee Hyperextension Is Not Associated With Postoperative Laxity, Subjective Knee Function, or Revision Surgery After ACL Reconstruction With Hamstring Tendon Autografts.
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Edman, Gunnar, Samuelsson, Kristian, Senorski, Eric Hamrin, Seil, Romain, and Cristiani, Riccardo
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PREOPERATIVE period , *PEARSON correlation (Statistics) , *ANTERIOR cruciate ligament injuries , *ANTERIOR cruciate ligament surgery , *AUTOGRAFTS , *MEASUREMENT of angles (Geometry) , *T-test (Statistics) , *HAMSTRING muscle , *QUESTIONNAIRES , *BONE screws , *SEX distribution , *TREATMENT effectiveness , *DESCRIPTIVE statistics , *ORTHOPEDIC apparatus , *ERGOMETRY , *CHI-squared test , *AGE distribution , *KNEE joint , *JOINT hypermobility , *SURGICAL complications , *LONGITUDINAL method , *REOPERATION , *SUTURING , *QUALITY of life , *CONFIDENCE intervals , *LIGAMENT injuries , *DATA analysis software , *JOINT instability , *RANGE of motion of joints , *PROPORTIONAL hazards models , *ISOKINETIC exercise , *REGRESSION analysis - Abstract
Background: There is concern that physiologic knee hyperextension may be associated with inferior outcomes after anterior cruciate ligament reconstruction (ACLR) using hamstring tendon (HT) autografts. Purpose: To assess whether there is an association between contralateral passive preoperative knee hyperextension (≤−5°) and postoperative anterior knee laxity, subjective knee function, or revision surgery after ACLR using HT autografts. Study Design: Cohort study; Level of evidence, 3. Methods: Patients without concomitant ligament injuries who underwent primary ACLR using an HT autograft at Capio Artro Clinic, Stockholm, Sweden, between January 1, 2005, and December 31, 2018, were identified. The cohort was dichotomized into the hyperextension group (≤−5°) and the no hyperextension group (>–5°) depending on preoperative contralateral passive knee extension degree. Anterior knee laxity (KT-1000 arthrometer; 134 N) was assessed preoperatively and at 6 months postoperatively. The Knee injury and Osteoarthritis Outcome Score (KOOS) was collected preoperatively and at 1, 2, and 5 years postoperatively. Patients who underwent revision ACLR at any institution in Sweden within 5 years of the primary surgery were identified in the Swedish National Knee Ligament Registry. Results: A total of 6104 patients (53.5% male) for whom knee range of motion measurements were available were identified (hyperextension group [≤−5°]: 2350 [38.5%]; mean extension, −6.1°± 2.3° [range, −20° to −5°]; no hyperextension group [>−5°]: 3754 [61.5%]; mean extension, 0°± 1.4° [range, −4° to 15°]). There were no intergroup differences in anterior knee laxity preoperatively (hyperextension group, 3.6 ± 2.8 mm; no hyperextension group, 3.7 ± 2.7 mm; P =.24) or postoperatively (hyperextension group, 1.8 ± 2.3 mm; no hyperextension group, 1.8 ± 2.2 mm; P =.41). The only significant but nonclinically relevant intergroup differences were seen in the KOOS Symptoms subscale at the 1-year follow-up (hyperextension group, 81.4 ± 16.0; no hyperextension group, 80.3 ± 16.5; P =.03) and in the Sport and Recreation subscale at the 5-year follow-up (hyperextension group, 73.0 ± 25.6; no hyperextension group, 75.7 ± 24.3; P =.02). No other significant intergroup differences were noted preoperatively or at 1, 2, or 5 years postoperatively in any of the KOOS subscales. The overall revision ACLR rate at ≤5 years after the primary surgery was 4.9% (302 of 6104 patients). The hazard for revision ACLR in the no hyperextension group (4.5%; 170 of 3754 patients) was not significantly different from that in the hyperextension group (5.6%; 132 of 2350 patients) (hazard ratio, 0.89; 95% CI, 0.71 to −1.12; P =.34). A subsequent subanalysis showed that the hazard of revision ACLR in patients with no hyperextension was not significantly different from that of patients with ≤−10° of extension (5.8%; 27 of 467 patients) (hazard ratio, 0.91; 95% CI, 0.61 to 1.36; P =.65). Conclusion: Preoperative passive contralateral knee hyperextension (≤−5°) was not associated with postoperative anterior knee laxity, subjective knee function, or revision surgery ≤5 years after ACLR using HT autografts. Therefore, the presence of knee hyperextension alone should not be considered a contraindication per se for the use of HT autografts in ACLR. [ABSTRACT FROM AUTHOR] more...
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- 2024
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23. Diagnosis of vascular Ehlers Danlos syndrome and management of vascular complications: a vascular surgeons perspective.
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Schönherr, Laura, Wipper, Sabine, and von Kodolitsch, Yskert
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EHLERS-Danlos syndrome , *JOINT hypermobility , *CONNECTIVE tissues , *AORTA , *SURGEONS - Abstract
The monogenic Ehlers – Danlos syndromes (EDS) constitute a clinically and genetically heterogenous group of connective tissue disorders with overlapping features of generalized joint hypermobility, skin hyperextensibility and tissue fragility. Vascular complications can be observed in several EDS types, but generalized tissue fragility resulting in significant increased risk on vascular events from a young age are a major clinical characteristic of vascular Ehlers – Danlos (vEDS, former Type IV). This is a rare, monogenic EDS type, with a suspected prevalence of 1:50 000. Even though progress regarding awareness and management of vEDS has been made, further studies are needed regarding optimal treatment and follow up. In this manuscript we present the perspective of a vascular surgeon regarding the current literature to management and treatment options for vascular complications in vEDS. [ABSTRACT FROM AUTHOR] more...
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- 2024
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24. Genetic diagnosis of the Ehlers-Danlos syndromes.
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Zschocke Ph.D., Johannes, Demirdas MD, Ph.D., Serwet, and van Dijk MD, PhD, Fleur S.
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EHLERS-Danlos syndrome , *JOINT hypermobility , *GENETIC testing , *ORGAN rupture , *GENETIC disorder diagnosis - Abstract
The Ehlers-Danlos syndromes (EDS) represent a group of genetically diverse disorders characterized by the variable combination of joint hypermobility, hyperextensibility of the skin, and connective tissue fragility affecting the skin and other organs. Based on clinical features, 13 different types of EDS have been delineated, 12 of which represent monogenic conditions caused by pathogenic variants in 21 confirmed genes. Pathogenesis is related to disturbances of collagen formation and/or stability. No monogenic cause has been identified for hypermobile EDS (hEDS), a more common EDS type, which is unlikely to represent a single gene disorder in the majority of affected individuals and at present cannot be diagnosed by genetic investigations. Here we summarize the clinical features and the molecular bases of the monogenic EDS types, highlight diagnostic challenges, and provide guidance for the molecular work-up of affected individuals. In general, genetic tests are indicated if clinical features suggest a monogenic EDS type but are usually unrewarding for other cases of hypermobility. [ABSTRACT FROM AUTHOR] more...
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- 2024
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25. Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.
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van Dijk MD, PhD, Fleur S., Angwin, Chloe, Demirdas MD, Ph.D., Serwet, Ghali MBChB, MRCPCH, MD, Neeti, and Zschocke Ph.D., Johannes
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EHLERS-Danlos syndrome , *JOINT hypermobility , *MEDICAL genetics , *MOLECULAR diagnosis , *CONNECTIVE tissues - Abstract
Monogenic Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue conditions that are clinically characterised by joint hypermobility, skin hyperextensibility and/or fragility, and generalised tissue fragility. Gene panel testing with massively parallel sequencing is currently gold standard to confirm diagnoses of the monogenic EDS types. We aim to report on the (combination of) clinical features of the monogenic EDS types through text and photographs, to aid clinical diagnosis as despite the significant progress in genetic testing possibilities, a thorough clinical assessment which includes medical history, family history and physical examination remains important in the diagnostic process. In addition, in those cases where no molecular diagnosis is possible, a clinical diagnosis can still guide management and surveillance. [ABSTRACT FROM AUTHOR] more...
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- 2024
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26. Core Muscle Endurance, Upper Extremity Muscle Strength, Grip Strength, and Hand-Eye Coordination in Young Adults with Generalized Joint Hypermobility.
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TUNCER, Deniz, İRDEM, Sude, and YILMAZ, Emir
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YOUNG adults ,JOINT hypermobility ,GRIP strength ,MUSCLE strength testing ,MUSCLE strength - Abstract
Copyright of Istanbul Gelisim University Journal of Health Sciences / İstanbul Gelişim Üniversitesi Sağlık Bilimleri Dergisi is the property of Istanbul Gelisim Universitesi Saglik Bilimleri Yuksekokulu and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) more...
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- 2024
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27. Bone-patellar tendon-bone, hamstring, and quadriceps tendon autografts for anterior cruciate ligament reconstruction in skeletally immature patients: a systematic review.
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Migliorini, Filippo, Cocconi, Federico, Schäfer, Luise, Vaishya, Raju, Kämmer, Daniel, and Maffulli, Nicola
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ANTERIOR cruciate ligament ,ANTERIOR cruciate ligament surgery ,QUADRICEPS tendon ,SPORTS re-entry ,JOINT hypermobility - Abstract
Introduction Historically, anterior cruciate ligament (ACL) ruptures in the paediatric age group were managed conservatively with bracing, casting, activity modification, and physical therapy. However, most of these patients had to reduce their sports activities, and secondary damages to the affected knee were prevalent. Source of data Published scientific literature in Embase, Web of Science, PubMed, and Google Scholar databases. Areas of agreement ACL reconstruction in children with open physes patients is debated. Any damage to the physes around the knee could lead to growth abnormalities and axial deviation of the knee. Areas of controversy Different grafts are available and suitable for ACL reconstruction in skeletally immature patients; however, which graft performs better remains unclear. Growing points This systematic review compared bone-patellar tendon-bone (BPTB), hamstring tendon (HT), and quadriceps tendon (QT) autografts for ACL reconstruction in skeletally immature patients. The joint laxity, Patient-reported outcome measures (PROMs), return to sport, and complications were compared. Areas timely for developing research In skeletally immature patients, HT, BPTB, and QT autografts for ACL reconstruction yielded good outcomes. Comparative studies are strongly required to establish the most suitable autograft. [ABSTRACT FROM AUTHOR] more...
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- 2024
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28. Headache disorders in patients with Ehlers-Danlos syndromes and hypermobility spectrum disorders.
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Mehta, Dwij, Simmonds, Lucy, Hakim, Alan J, and Matharu, Manjit
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POSTURAL orthostatic tachycardia syndrome ,CEREBROSPINAL fluid leak ,JOINT hypermobility ,CEREBROSPINAL fluid ,MIGRAINE - Abstract
Extra-articular symptoms, including headaches, are frequently encountered in patients with Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders (HSD), and may be the presenting complaint. Migraine is reported in up to three quarters of patients with symptomatic joint hypermobility, have a higher headache frequency, and an earlier age of onset compared to the general population. Orthostatic headache is an important presentation, and should raise suspicion of an underlying spinal cerebrospinal fluid leak, dysautonomia, and craniocervical pathology, which are all associated with heritable connective tissue disorders (HCTD) including EDS. Any proposed invasive procedure should be scrupulously balanced against its potential risks, taking into account the type of EDS (e.g., vascular EDS) and its systemic manifestations. This is particularly pertinent when suspecting craniocervical instability since it remains a controversial diagnosis with a limited treatment evidence-base. This article reviews the commonly encountered headache disorders in patients with joint hypermobility-related conditions with a focus on EDS and HSD, describes their diverse presentations, and an overview of the recommended management strategies. It also emphasises the need for increased awareness of comorbid conditions in EDS and HSD among clinicians treating headaches to ensure a patient-tailored approach and facilitate a multidisciplinary approach in managing often complex cases. [ABSTRACT FROM AUTHOR] more...
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- 2024
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29. Overlapping conditions in Long COVID at a multisite academic center.
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Grach, Stephanie L., Dudenkov, Daniel V., Pollack, Beth, Fairweather, DeLisa, Aakre, Chris A., Munipalli, Bala, Croghan, Ivana T., Mueller, Michael R., Overgaard, Joshua D., Bruno, Katelyn A., Collins, Nerissa M., Li, Zhuo, Hurt, Ryan T., Tal, Michal C., Ganesh, Ravindra, and Knight, Dacre T. R. more...
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POST-acute COVID-19 syndrome ,CHRONIC fatigue syndrome ,COVID-19 treatment ,JOINT hypermobility ,COVID-19 ,ORTHOSTATIC intolerance - Abstract
Background: Many patients experience persistent symptoms after COVID-19, a syndrome referred to as Long COVID (LC). The goal of this study was to identify novel new or worsening comorbidities self-reported in patients with LC. Methods: Patients diagnosed with LC (n = 732) at the Mayo Long COVID Care Clinic in Rochester, Minnesota and Jacksonville, Florida were sent questionnaires to assess the development of new or worsening comorbidities following COVID-19 compared to patients with SARS-CoV-2 that did not develop LC (controls). Both groups were also asked questions screening for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), generalized joint hypermobility (GJH) and orthostatic intolerance. 247 people with LC (33.7%) and 40 controls (50%) responded to the surveys. Results: In this study LC patients averaged 53 years of age and were predominantly White (95%) women (75%). The greatest prevalence of new or worsening comorbidities following SARS-CoV-2 infection in patients with LC vs. controls reported in this study were pain (94.4% vs. 0%, p < 0.001), neurological (92.4% vs. 15.4%, p < 0.001), sleep (82.8% vs. 5.3%, p < 0.001), skin (69.8% vs. 0%, p < 0.001), and genitourinary (60.6% vs. 25.0%, p = 0.029) issues. 58% of LC patients screened positive for ME/CFS vs. 0% of controls (p < 0.001), 27% positive for GJH compared to 10% of controls (p = 0.026), and a positive average score of 4.0 on orthostatic intolerance vs. 0 (p < 0.001). The majority of LC patients with ME/CFS were women (77%). Conclusion: We found that comorbidities across 12 surveyed categories were increased in patients following SARS-CoV-2 infection. Our data also support the overlap of LC with ME/CFS, GJH, and orthostatic intolerance. We discuss the pathophysiologic, research, and clinical implications of identifying these conditions with LC. [ABSTRACT FROM AUTHOR] more...
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- 2024
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30. Patient‐reported outcome measures following individualised TKA are not affected by the degree of preoperative coronal varus or valgus laxity.
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Sappey‐Marinier, Elliot, Bouguerra, Margot, Chapuis, Romain, ReSurg, Aït‐Si‐Selmi, Tarik, and Bonnin, Michel P.
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TOTAL knee replacement , *JOINT hypermobility , *SATISFACTION , *PATIENT reported outcome measures , *RADIOGRAPHS - Abstract
Purpose Methods Results Conclusion Level of Evidence To determine whether there is a correlation between preoperative coronal varus or valgus laxity and patient‐reported outcome measures (PROMs) 2 years after individualised total knee arthroplasty (TKA).Records of 150 consecutive patients who received individualised TKA were retrospectively analysed, and 126 with complete pre‐ and postoperative data were included. Preoperative coronal varus and valgus stress radiographs (15 N load) were taken using a telos stress device with the knee in 5°–10° of flexion. Varus stress angles were positive if the joint opened on the lateral side, and valgus stress angles were positive if the joint opened on the medial side. The sum of varus and valgus stress angles indicated total joint laxity. During surgery, cases that required tibial recuts to balance the joint were recorded. Patients completed three PROMs and rated their satisfaction. Correlations between laxity and PROMs were evaluated using Pearson's correlation.Stress radiographs revealed varus stress angles of 6.3° ± 3.5° (range, −4.5° to 14.1°), valgus stress angles of 0.1° ± 3.7° (range, −8.0° to 10.9°), and the sum of the varus and valgus stress angle of 6.4° ± 3.3° (range, 0.1° to 17.1°). There were no correlations between laxity and PROMs:
r < 0.160 for varus stress angle,r < 0.180 for valgus stress angle andr < 0.160 for the sum of stress angles. There were no statistically significant or clinically relevant differences in PROMs between knees without and those with tibial recuts.Preoperative coronal varus or valgus laxity was not correlated with PROMs following individualised TKA at a minimum 2‐year follow‐up. Individualised TKA with personalised alignment enables adequate accommodation of a broad spectrum of preoperative coronal varus–valgus laxities.IV [ABSTRACT FROM AUTHOR] more...- Published
- 2024
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31. Synthetic suture tape for medial patellofemoral ligament reconstruction is an effective treatment for complex paediatric patellofemoral instability.
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Galán‐Olleros, María, Arviza‐Lorenzo, Pablo, Miranda‐Gorozarri, Carlos, Alonso‐Hernández, Javier, Manzarbeitia‐Arroba, Paloma, Ramírez‐Barragán, Ana, and Palazón‐Quevedo, Ángel
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SURGICAL site infections , *CHILD patients , *PATIENT satisfaction , *JOINT hypermobility ,PEOPLE with Down syndrome - Abstract
Purpose: To assess the outcomes of medial patellofemoral ligament (MPFL) reconstruction using synthetic suture tape in paediatric patients with patellofemoral instability (PFI). Methods: This ambispective comparative study, conducted from 2014 to 2022, included paediatric patients who underwent MPFL reconstruction with synthetic suture tape and had a minimum follow‐up of 1 year. Pre‐ and postoperative clinical and functional outcomes, patient satisfaction and complications were assessed. Results: The study comprised 22 patients (29 knees), with a median age at surgery of 14.4 years (interquartile range [IQR] 10.9–16.7) and a median follow‐up of 46.5 months (24.7–66). Notably, 13 knees (44.8%) had open growth plates at the time of surgery. The cohort included patients with Down syndrome (3 patients), Ehlers‐Danlos (2), arthrogryposis (1), generalized joint hypermobility (8) and previous unsuccessful PFI surgeries (8). Concomitant procedures were performed on 16 knees. Postoperatively, improvements were observed in all but one patient, who reported residual pain. There were two other complications: one suture‐tape rupture and one surgical wound infection. Functional scores significantly improved: Kujala, +14 points (7–29) (p < 0.001); IKDC, +10.5 points (5.2–25.3) (p < 0.001); Tegner, +2 points (0–4) (p < 0.001); Lysholm, +15 points (0–37.5) (p < 0.001). Most patients achieved excellent outcomes by Crosby‐Insall criteria (21 patients, 72.4%) and reported high satisfaction (23 patients, 79.3%). Conclusions: MPFL reconstruction using synthetic suture tape is a viable and effective treatment for paediatric patients with PFI, particularly for those with connective tissue disorders, generalized joint hypermobility or past surgical failures, significantly enhancing clinical and functional outcomes with an acceptable complication rate. Level of Evidence: Level IV. [ABSTRACT FROM AUTHOR] more...
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- 2024
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32. Regression model for predicting knee flexion angles using ankle plantar flexion angles, body mass index and generalised joint laxity.
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Teng, Phillis Soek Po, Leong, Kah Fai, and Kong, Pui Wah
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LEG physiology , *RISK assessment , *ANTERIOR cruciate ligament injuries , *BODY mass index , *PREDICTION models , *RESEARCH funding , *KINEMATICS , *MULTIPLE regression analysis , *KNEE joint , *RESEARCH methodology , *ANKLE joint , *PLANTARFLEXION , *JOINT instability - Abstract
Increased knee flexion angles are associated with reduced non-contact anterior cruciate ligament (ACL) injury risks. Ankle plantar flexion angles and internal risk factors could influence knee flexion angles, but their correlations are unknown. This study aimed to establish and validate a regression model to predict knee flexion angles using ankle plantar flexion angles, body mass index (BMI) and generalised joint laxity (GJL) at initial contact of single-leg drop landings. Thirty-two participants performed single-leg drop landings from a 30-cm-high platform. Kinematics and vertical ground reaction forces were measured using a motion capture system and force plate. A multiple regression was performed, and it was validated using a separate data set. The prediction model explained 38% (adjusted R2) of the change in knee flexion angles at initial contact (p = 0.001, large effect size). However, only the ankle plantar flexion angle (p < 0.001) was found to be a significant predictor of knee flexion angles. External validation further showed that the model explained 26% of knee flexion angles (large effect size). The inverse relationship between ankle plantar flexion and knee flexion angles suggests that foot landing strategies could be used to increase knee flexion angles, thereby reducing non-contact ACL injury risks. [ABSTRACT FROM AUTHOR] more...
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- 2024
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33. Effect of joint hypermobility on outcomes of children with juvenile idiopathic arthritis.
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Black, William R., Singleton, Jade, Wang, Xing, Harris, Julia G., and Jones, Jordan T.
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JUVENILE idiopathic arthritis , *JOINT hypermobility , *PATIENT experience , *YOUNG adults , *RANGE of motion of joints - Abstract
Background: Juvenile idiopathic arthritis (JIA) is common in pediatric rheumatology. Despite treatment, many patients experience persistent disease activity. Joint hypermobility (JH), defined by an excessive range of motion across multiple joints, is prevalent in children and adolescents and may influence disease outcomes in JIA. Objective: This study examines the impact of JH on symptoms in youth and young adults with JIA. Methods: Data were obtained from the PR-COIN network and included patients under 21 years old with a diagnosis of JIA. Patients with JIA and JH were matched with those having JIA-only based on age, sex assigned at birth, JIA subtype, and medication exposure. Clinical data, including disease activity measures, patient well-being, and pain ratings, were collected at baseline and follow-up visits. Results: The sample included 420 patients with JIA + JH and 2100 with JIA only. The JIA + JH group exhibited higher disease activity at baseline, more active arthritis joints, elevated physician global assessment of disease activity scores, and worse patient-reported well-being. These differences persisted over time. The JIA + JH group had a 19–20% greater likelihood of maintaining high disease activity scores and worsening over subsequent visits, indicating a significant impact of JH on disease progression. Conclusion: JH in youth with JIA is associated with higher and persistent disease activity, suggesting that JH significantly contributes to the disease burden in patients with JIA and should be considered in treatment strategies. Future research should further explore the mechanisms by which JH influences disease activity and investigate comprehensive management approaches to improve outcomes for this population. Key Points • Children with JIA and joint hypermobility (JH) exhibit significantly higher disease activity at baseline compared to those with JIA only, including more active arthritis joints and elevated physician global assessment scores. • The presence of JH in JIA patients is associated with poorer patient-reported well-being and higher overall disease activity scores, which persist over time despite treatment. • JIA + JH patients have a 19–20% greater likelihood of maintaining high disease activity and worsening over subsequent visits, indicating a significant impact of JH on disease progression. • The study suggests that JH should be considered an important clinical factor in the management of JIA, with targeted interventions needed to address the increased disease activity and improve overall patient outcomes. [ABSTRACT FROM AUTHOR] more...
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- 2024
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34. Joint Hypermobility, Autonomic Dysfunction, Gastrointestinal Dysfunction, and Autoimmune Markers: Clinical Associations and Response to Intravenous Immunoglobulin Therapy.
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Pasricha, Pankaj J., McKnight, Megan, Villatoro, Luisa, Barahona, Guillermo, Brinker, Jeffrey, Hui, Ken, Polydefkis, Michael, Burns, Robert, McMahan, Zsuzsanna H., Gould, Neda, Goodman, Brent, Hentz, Joseph, and Treisman, Glenn more...
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JOINT hypermobility , *GASTROINTESTINAL motility disorders , *DYSAUTONOMIA , *INTRAVENOUS therapy , *BIOMARKERS , *AUTOIMMUNE diseases - Abstract
INTRODUCTION: We examined autoimmunity markers (AIM) and autonomic dysfunction in patients with chronic neurogastroenterological symptoms and their relationship to joint hypermobility/hypermobility spectrum disorder (JH/HSD). METHODS: AIM positivity was defined as a diagnosis of known autoimmune/autoinflammatory disorder with at least 1 positive seromarker of autoimmunity or at least 2 positive seromarkers by themselves. Three cohorts were studied: (i) retrospective (n = 300), (ii) prospective validation cohort (n = 133), and (iii) treatment cohort (n = 40), administered open-label intravenous immunoglobulin (IVIG). RESULTS: AIM positivity was found in 40% and 29% of the retrospective and prospective cohorts, the majority of whom (71% and 69%, respectively) had autoinflammatory disorder. Significantlymore patients with AIM had elevations of C-reactive protein (31% vs 15%, P < 0.001) along with an increased proportion of cardiovascular autonomic dysfunction (48% vs 29%; P < 0.001), small fiber neuropathy (20% vs 9%; P = 0.002), and HLADQ8 positivity (24% vs 13%, P = 0.01). Patients with JH/HSD were more likely to have AIM (43% vs 15%, P = 0.001) along with more severe autonomic and gastrointestinal (GI) symptom scores. IVIG treatment was associated with robust improvement in pain, GI, and autonomic symptoms, but adverse events were experienced by 62% of patients. DISCUSSION: Autoimmune markers and autonomic dysfunction are common in patients with unexplained GI symptoms, especially in those with JH/HSD. Many patients seem to respond to IVIG treatment, but this needs to be confirmed by controlled trials. These results highlight the need for vigilance for autoimmune and autonomic factors and JH/HSD in patients with neurogastroenterological disorders. Clinicaltrials. gov, NCT04859829. [ABSTRACT FROM AUTHOR] more...
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- 2024
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35. Hypoglycemia Associated With Hypermobile Ehlers-Danlos Syndrome.
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Saeed, Hamayle, Sheehan, Amanda, and Patti, Mary-Elizabeth
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CONTINUOUS glucose monitoring , *DIET therapy , *EHLERS-Danlos syndrome , *JOINT hypermobility , *METABOLIC disorders - Abstract
Hypoglycemia in the absence of diabetes is often multifactorial and challenging to diagnose definitively. We present a case report and an expanded series of adult females with reactive hypoglycemia who were diagnosed with Ehlers-Danlos syndrome (EDS). These patients exhibited predominantly postprandial hypoglycemia, with some fasting and activity-induced episodes. Clinical findings included autonomic dysfunction, gastrointestinal symptoms, and joint hypermobility. Interventions focused on medical nutrition therapy, continuous glucose monitoring, and, in some cases, medication. Many patients continued to experience hypoglycemic episodes despite treatment. Key learning points include the potential association between hypermobile EDS and hypoglycemia, the importance of confirming the Whipple triad, and the need for multidisciplinary management. This case series highlights the need for further research into the prevalence and pathophysiology of hypoglycemia in EDS. [ABSTRACT FROM AUTHOR] more...
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- 2024
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36. The need for primary care providers in the clinical management of hypermobility spectrum disorders and ehlers-danlos syndrome: a call to action.
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Black, William R., Black, Lora L., Goldstein-Leever, Alana, Fox, Lisa S., Pratt, Laura R., and Jones, Jordan T.
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PRIMARY health care , *DELAYED diagnosis , *HEALTH care teams , *JOINT hypermobility , *JOINT instability - Abstract
Patients with joint-hypermobility and joint-hypermobility spectrum disorders (HSD), including hypermobile Ehlers-Danlos Syndromes (EDS) present numerous co-morbid concerns, and multidisciplinary care has been recommended. The complexity of these patient's needs and increased demand for medical services have resulted in long delays for diagnosis and treatment and exhausted extant clinical resources. Strategies must be considered to ensure patient needs are met in a timely fashion. This opinion piece discusses several potential models of care for joint-hypermobility disorders, several ways in which primary providers can be involved, and argues that primary providers should be an essential and integrated part of the management of these patients, in collaboration with multidisciplinary teams and pediatric subspecialists. We review several strategies and educational opportunities that may better incorporate primary providers into the care and management of these patients, and we also discuss some of the limitations and barriers that need to be addressed to improve provision of care. This includes establishing primary care physicians as the medical home, providing initial diagnostic and treatment referrals while connecting patients with specialty care, and collaboration and coordination with multi-disciplinary teams for more complex needs. Several barriers exist that may hamper these efforts, including a lack of available specialty trainings for providers interested in providing care to patients with EDS and HSD, a lack of expertly derived consensus guidelines, and limited time resources in extant primary care practices. Also, primary providers should have an active voice in the future for the further consideration and development of these presented strategies. [ABSTRACT FROM AUTHOR] more...
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- 2024
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37. Evidence for and against manganese deficiency as causal for congenital joint deficiency disease or death in fetal and neonatal cattle.
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Schaeffer, David J and Villar, David
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FETAL diseases ,JOINT hypermobility ,DEFICIENCY diseases ,RED clover ,FOOD consumption - Abstract
Measures of manganese (Mn) status in cattle vary among studies, and no single criterion accurately predicts or diagnoses Mn deficiency and pathologic outcomes. Mn deficiency causes congenital joint laxity and dwarfism (CJLD) when total dietary intake is <20 ppm Mn dry matter (DM) for most of the pregnancy. However, the recommended dietary intake of 40 ppm DM can also result in clinical Mn deficiency. Some studies have found that CJLD occurs in calves from cows fed red clover or silage but not in calves from cows fed hay. The concentration of Mn in the liver is the best indicator of Mn status in neonates and adults but cannot be interpreted in fetuses. Serum, plasma, and whole blood concentrations of Mn are unreliable indicators of bovine Mn status. The primary objective of our report is to present evidence linking CJLD to a primary or secondary Mn deficiency. To predict and diagnose Mn deficiency in cattle, we propose using a combination of clinical signs, dietary Mn, liver Mn at birth and beyond, positive response to Mn supplementation or the replacement of silage with other forages, and ruling out other causes of malformations. By following these recommendations, we expect that CJLD and gestational death will decrease as hepatic Mn concentrations increase at birth. Many publications we reviewed are not statistically sound, and future research should include a statistician from the initial discussions of the study through the final publication. [ABSTRACT FROM AUTHOR] more...
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- 2024
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38. Guideline on managing thumb ulnar collateral ligament injuries: the British Society of Surgery for the Hand Evidence for Surgical Treatment (BEST) findings and recommendations.
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Dean, Benjamin, Rodrigues, Jeremy, Riley, Nicholas, Rabey, Nicholas, Donnison, Ella, Challen, Kirsty, and Bradford, Steph
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ULNAR collateral ligament ,COLLATERAL ligament injuries ,PHYSICIANS ,JOINT hypermobility ,EMERGENCY medicine - Abstract
The development of the ulnar collateral ligament (UCL) guideline was undertaken in accordance with the British Society for Surgery of the Hand Evidence for Surgical Treatment (BEST) Process Manual, which has been accredited by the National Institute for Health and Care Excellence, UK. This review article serves as a summary of the systematic reviews and the final guideline. The group included two patients, a radiologist, a commissioner, an emergency medicine doctor, hand therapists and hand surgeons. The group's recommendations are that patients with acute UCL injuries should be assessed with a history, clinical examination and radiographs. Patients without significant joint laxity can be treated non-surgically. Patients with significant joint laxity on clinical examination may be treated with non-surgical joint immobilization or surgical repair and should reach a shared decision with their clinician about the definitive treatment within 2 weeks of presentation. [ABSTRACT FROM AUTHOR] more...
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- 2024
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39. Study on the balance and gait characteristics of subjects with generalized joint hypermobility residing in high-altitude using wearable devices: a cross-sectional study.
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Liu, Mingwei, Guo, Luqi, Lin, Jinpeng, Cai, Yuepeng, Huang, Xiaofan, Wu, Yue, Zhang, Yu, and Wang, Shaobai
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CENTER of mass , *JOINT hypermobility , *JOINT instability , *MOUNTAIN sickness , *COLLEGE students , *BODY-weight-supported treadmill training - Abstract
Purpose: To investigate the characteristics of balance and gait functions in Generalized Joint Hypermobility (GJH) subjects residing in high-altitude areas. Methods: This study included 61 university students (28 with GJH and 33 healthy controls) all from the high-altitude region of Linzhi, Tibet Autonomous Region. The Riablo™ wearable intelligent rehabilitation assessment and training system was used to assess static balance (with eyes open and closed) and gait function (during flat walking) in both groups. Results: Compared to healthy subjects, GJH subjects exhibited significantly impaired balance, indicated by an increased distance of the center of pressure position from the ideal center of gravity(EO: P = 0.007, EC: P = 0.031) and greater amplitude of center of pressure displacements (EO: P = 0.043, EC: P = 0.032). Gait velocity(P = 0.007), stride length(P = 0.012), and swing stance phase of the gait cycle(P = 0.046) were significantly reduced in GJH subjects compared to healthy subjects. A significant increase in the flat-foot phase of the gait cycle(P = 0.022) was observed in GJH subjects compared to healthy subjects. Conclusion: The current study demonstrated that GJH subjects residing in high-altitude areas exhibit impairments in balance and gait, providing a basis for training and prevention strategies tailored for this population. And this study used the wearable intelligent rehabilitation evaluation and training system in high-altitude areas, providing methodological references for scientific research on balance and gait function under non laboratory conditions. Trial registration: Controlled Trials No.102772023RT133, Registered 13 October 2023. [ABSTRACT FROM AUTHOR] more...
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- 2024
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40. Incidence of hip problems in developmental central hypotonia: A scoping review.
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Livingstone, Roslyn W., Paleg, Ginny S., Shrader, M. Wade, Miller, Freeman, and Rodby‐Bousquet, Elisabet
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GENETIC disorder diagnosis , *JOINT hypermobility , *NEWBORN screening , *STRUCTURAL stability , *DOWN syndrome - Abstract
Aim Method Results Interpretation To describe what is known about hip problems in individuals with developmental central hypotonia.Searches were conducted in five databases to October 2023. Down syndrome was excluded from this analysis of less well‐known genetic diagnoses. At least two reviewers independently screened titles, abstracts, read full‐text articles, and extracted data.Of 89 full‐text articles, 79 met inclusion criteria. Studies included 544 individuals aged 1 month to 63 years with Kabuki, 49, XXXXY, Prader–Willi, PURA, Koolen de Vries, Emanuel, TRPM3, Wolf–Hirschhorn, and other rare syndromes. Most diagnoses may be associated with a combination of differences in hip structure or stability that are evident at birth, or develop in early infancy, with increasing hip dysplasia and subluxation over time. Joint or ligamentous laxity was most reported along with hypotonia and hypermobility as risk factors. Limited data were identified about conservative or surgical intervention and outcomes in these populations.Children with significant hypotonia, with or without a confirmed genetic diagnosis, are at increased risk of hip problems that may be missed with standard neonatal screening. Ultrasound is recommended between 6 weeks and 6 months, and annual orthopaedic review with regular radiographs for older children and adults with significant and persistent hypotonia. [ABSTRACT FROM AUTHOR] more...
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- 2024
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41. Ultrasonography assessments of talar cartilage and ATFL after running in chronically unstable, coper, and healthy ankles: a case-control study.
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Seo, Dongkyun and Park, Jihong
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CHRONIC ankle instability , *ANKLE joint , *JOINT instability , *JOINT hypermobility , *ANKLE injuries - Abstract
BackgroundPurposeMethodsResultsConclusionComparisons of talar cartilage and the anterior talofibular ligament (ATFL) profiles in individuals with different levels of chronic ankle instability (CAI) provide insight into early adaptation of tissue morphology.This study compared morphologic response and recovery of the talar cartilage and ATFL before and after 30-min of self-paced treadmill running between individuals with CAI, coper (full recovery from a first-time ankle sprain), and healthy controls.Sixty young males (24.8 years, 176.9 cm, 75.7 kg) were allocated into the CAI, coper, and healthy control group by their number of ankle sprains and scores on the self-reported ankle instability questionnaires (Cumberland Ankle Instability Tool, and Foot and Ankle Ability Measure-Activities of Daily Living). Ultrasonographic images in the cross-sectional area (CSA; overall, lateral, and medial) and ATFL length (unstressed and stressed and position) before and after treadmill running were recorded and analyzed.There were no group by time interactions in the talar cartilage CSA (F14,399 <1.09,
p > .36 for all tests) and ATFL length (F14,399< .69,p > .79 for all tests). Regardless of time, CAIs had the largest overall (F2,399 = 42.68,p < .001), lateral (F2,399 = 37.16,p < .001), and medial (F2,399 = 36.57,p < .001) CSA of talar cartilage and the longest stressed-ATFL length (F2,399 = 54.42,p < .001), followed by copers and healthy controls.Morphologic features of the talar cartilage and ATFL appear to depend on the level of ankle instability (e.g. a history of recurrent ankle sprain). [ABSTRACT FROM AUTHOR] more...- Published
- 2024
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42. The Effect of Attention Focus Instructions on Strength and Balance in Subjects With Generalized Joint Hypermobility.
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Zorlular, Ali, Zorlular, Rabia, Elbasan, Bulent, and Guzel, Nevin Atalay
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JOINT hypermobility , *EXTENSOR muscles , *EQUILIBRIUM testing , *DYNAMIC balance (Mechanics) , *MUSCLE strength - Abstract
This study aims to examine the effects of different attention focuses on muscle strength and balance performance in individuals with Generalized Joint Hypermobility (GJH). This randomized crossover trial included 32 individuals with GJH whose Beighton score was greater than 5. Subjects performed each task under external attentional focus, internal attentional focus, and neutral attentional focus condition. Knee extensor muscle strength was measured using the Isokinetic Dynamometer. Postural stability was evaluated using the Biodex Balance System, while dynamic balance was assessed using the Y Balance Test. The main effects of attentional focus on the outcomes were analyzed using repeated measures ANOVA and post-hoc corrections with a 95% confidence interval. Subjects produced significantly higher quadriceps peak torque during external focus instruction and internal focus instruction compared to neutral condition (
p = .006). Postural stability performance were found to be better during external attention focus compared to the internal focus of attention and the neutral group (p = .008). In addition, an increase in Y balance composite score was observed during external condition compared to internal condition and neutral condition (p < .001). Whether internal or external, the use of attentional focus may be beneficial for optimal force production during training in individuals with GJH. External attention focus enabled better postural stability and dynamic balance performances. [ABSTRACT FROM AUTHOR] more...- Published
- 2024
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43. The Role of Levetiracetam and Prednisolone in the Treatment of Sydenham's Chorea.
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Douvoyiannis, Miltiadis, Fautsch, Kalli J., and Miles, James
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RHEUMATIC fever diagnosis , *HETEROCYCLIC compounds , *CHOREA , *HEART murmurs , *PENICILLIN G , *DYSARTHRIA , *DIFFERENTIAL diagnosis , *PREDNISOLONE , *DIAGNOSIS , *GAIT in humans , *PEPTIDE hormones , *MAGNETIC resonance imaging , *LISINOPRIL , *JOINT hypermobility , *ELECTROCARDIOGRAPHY , *MITRAL valve insufficiency , *SPEECH disorders , *CUSHING'S syndrome , *BACTERIAL antibodies , *C-reactive protein , *AORTIC valve insufficiency - Abstract
The article focuses on an 11-year-old boy presenting with slurred speech and involuntary movements, later diagnosed with a neurological disorder. Topics include his clinical symptoms such as dysarthria and abnormal involuntary movements, his physical exam findings including hyperreflexia and abnormal gait, and the absence of significant prior medical or family history. more...
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- 2024
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44. Relief of benign paroxysmal positional vertigo and temporomandibular disorder using a myofascial induction in genu recurvatum patients: Case reports.
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Kim, Cathy, Sharkey, John, Slutzky, Luiz Carlos, and Diaz, Graal
- Abstract
In the realm of research, the single case study has been recognized as a valuable tool for sharing insights, demonstrating new concepts, discovering novel phenomena, consolidating hypotheses, and sparking original ideas. In this physician-guided narrative, phenomena previously unreported in the clinical context are explored. These case studies aim to offer insights that may inform an existing theoretical model that encapsulates a distinct therapeutic intervention. Original research in fascia-focused therapies presents many challenges, including the lack of universal terminology, inconsistent techniques, and difficulties in quantifying treatment effects. Tensegrity-based approaches, which concentrate on tissue tension, also face challenges in establishing their validity within living organisms. For centuries, fascia was seen only as ribbons and sheets of soft, inert, mostly fatty tissue. Consequently, most anatomy textbooks provide a sterile view of anatomical structures devoid of the context of unifying fascia. Now, however, consensus of research describes fascia as an omnipresent, ubiquitous, body-wide tissue that acts as a system, transmitting mechanical information via tensional force changes. The clinical outcomes in the cases provided in this narrative report suggest that induction of thigh fascia resulted in immediate anatomically distant therapeutic benefit, as reported by the patients. Rather than measuring treatment efficacy, these two case studies utilize a specific myofascial induction performed at high velocity to elucidate the possibility of a fascia-based, tensegrity-mediated, mechanism for commonly managed, yet often incurable conditions – Benign Paroxysmal Positional Vertigo (BPPV) symptoms and Temporomandibular Joint (TMJ) pain (within the spectrum of Temporomandibular Disorder (TMD)). [ABSTRACT FROM AUTHOR] more...
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- 2024
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45. Age under 20 years, pre‐operative participation in pivoting sports, and steep posterior tibial slope of more than 12° are risk factors for graft failure after double‐bundle anterior cruciate ligament reconstruction.
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Goto, Kazumi, Honda, Eisaburo, Iwaso, Hiroshi, Sameshima, Shin, Inagawa, Miyu, Ishida, Yutaro, Matsuo, Koji, Kuzuhara, Ryota, and Sanada, Takaki
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ANTERIOR cruciate ligament surgery ,LOGISTIC regression analysis ,RECEIVER operating characteristic curves ,SPORTS participation ,JOINT hypermobility - Abstract
Purpose: Younger age and steep posterior tibial slope (PTS) have been reported as risk factors for graft failure after anterior cruciate ligament reconstruction (ACLR). Few studies have evaluated these risk factors simultaneously in a large cohort of patients undergoing double‐bundle ACLR (DB‐ACLR). Therefore, this retrospective study aimed to simultaneously investigate known risk factors such as PTS and age in DB‐ACLR, determine their thresholds and calculate odds ratios (ORs). Methods: We investigated 482 knees that underwent DB‐ACLR with a follow‐up period of at least 2 years. Receiver operating characteristic analysis determined cut‐off values for age and PTS for graft failure. Subsequently, logistic regression analysis was conducted to evaluate the effects of age, sex, height, weight, laterality, surgical waiting period, pre‐operative sport type and level, meniscal injury, hyperextension, general joint laxity and PTS on graft failure. Results: Graft failure was observed in 33 out of 482 knees (6.8%). Notably, the graft failure group was significantly younger (18.0 ± 5.0 years [standard deviation] vs. 30.4 ± 13.1 years, p < 0.01) and had a steeper PTS (11.9 ± 2.3° [standard deviation] vs. 9.6 ± 2.9°, p < 0.01) than the group with no graft failure. The cut‐off values were 20.0 years for age (specificity, 64.6%; sensitivity, 87.9% and area under the curve, 0.808) and 12.0° for PTS (specificity, 70.9%; sensitivity, 69.7% and area under the curve, 0.734). Logistic regression analysis identified an age of <20 years (OR = 10.1; p < 0.01), PTS of ≥12° (OR = 5.6; p < 0.01) and pre‐operative participation in pivoting sports (OR = 6.0; p < 0.01) as significant risk factors for graft failure. Conclusion: We identified an age of <20 years, PTS of ≥12° and pre‐operative participation in pivoting sports as significant risk factors for graft failure after DB‐ACLR. Level of Evidence: Level III. [ABSTRACT FROM AUTHOR] more...
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- 2024
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46. The Effects of Cold and Hot Applications on Knee Joint Laxity and Post-Jump Landing Biomechanics in Healthy Individuals.
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KIYAK, Görkem, USTA, Mert, ARSLAN, Esma, ERCAN, Sabriye, and ÇÖMLEKÇİ, Selçuk
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RANGE of motion of joints ,JOINT hypermobility ,BODY temperature regulation ,SPORTS injury prevention ,COLD therapy - Abstract
Copyright of Spor Bilimleri Dergisi is the property of Spor Bilimleri Dergisi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) more...
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- 2024
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47. Functional benefit of joint surgery in patients with non-vascular Ehlers-Danlos syndrome: results of a retrospective study.
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Abihssira, Sharon, Benistan, Karelle, and Nourissat, Geoffroy
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ELBOW joint , *JOINT instability , *JOINT hypermobility , *KNEE joint , *EHLERS-Danlos syndrome - Abstract
Background: Ehlers-Danlos syndrome (EDS) is a hereditary disease characterised by joint hypermobility, skin hyperextensibility and tissue fragility. Hypermobile EDS (hEDS is the more frequent subtype. Joint surgery may benefit certain patients after failure of medical treatments, but there is no consensus on the optimal surgical management of patients with hEDS. The aims of this retrospective study were to chart the surgical management of patients with hEDS, to determine the role of arthroscopy and to evaluate the functional results of joint surgery, including the reintervention rates. Results: A total of 69 patients with non-vascular EDS were evaluated (60 female; 87%). Mean (SD) age at first surgery was 25.6 ± 11.1 years. Among the 69 patients, first surgeries were carried out on the knee (n = 50; 39.4%), ankle (n = 28; 22.0%), shoulder (n = 22; 17.3%), wrist (n = 18; 14.2%) and elbow (n = 9; 7.1%). One-fifth of all first operations (20.8%) were carried out by arthroscopy, most often on the knee (36% of knee surgery cases). At the time of primary surgery, the surgeon was alerted to the diagnosis or suspicion of hEDS in only 33.9% of patients. The rate of reoperations (2 to ≥ 5) was 35.7% (10/28) for the ankle, 40.9% (9/22) for the shoulder, 44.4% (4/9) for the elbow, 50% (9/18) for the wrist and 60% (30/50) for the knee. Local or regional anaesthesia was badly tolerated or ineffective in 27.8%, 36.4% and 66.6% of operations on the wrist, shoulder and elbow, respectively. Overall, the majority of patients (> 70%) were satisfied or very satisfied with their surgery, particularly on the non-dominant side. The lowest satisfaction rate was for shoulder surgery on the dominant side (58.3% dissatisfied). Conclusions: Surgery for joint instability has a greater chance of success when it is carried out in patients with a known diagnosis of EDS before surgery. The majority of patients were satisfied with their surgery and, with the exception of the knee, there was a low rate of reoperations (≤ 50%). Arthroscopic procedures have an important role to play in these patients, particularly when surgery is performed on the knee. [ABSTRACT FROM AUTHOR] more...
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- 2024
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48. Functional preoperative assessment of coronal knee laxity better predicts postoperative patient outcomes than intraoperative surgeon‐defined laxity in total knee arthroplasty.
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Jagota, Ishaan, Al‐Dirini, Rami M. A., Taylor, Mark, Twiggs, Joshua, Miles, Brad, and Liu, David
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TOTAL knee replacement , *JOINT hypermobility , *KNEE osteoarthritis , *COMPUTED tomography , *KNEE injuries - Abstract
Purpose Methods Results Conclusions Level of Evidence Intraoperative laxity assessments in total knee arthroplasty (TKA) are subjective, with few studies comparing against standardised preoperative and postoperative assessments. This study compares coronal knee laxity in TKA patients awake and anaesthetised, preprosthesis and postprosthesis implantation, evaluating relationships to patient‐reported outcome measures.A retrospective analysis of 49 TKA joints included preoperative and postoperative computed tomography scans, stress radiographs and knee injury and osteoarthritis outcome score (KOOS) questionnaire results preoperatively and 12 months postoperatively. The imaging was used to assess functional laxity (FL) in awake patients, whereas computer navigation measured intraoperative surgical laxity (SL) preimplantation and postimplantation, with patients anaesthetised. Varus and valgus stress states and their difference, joint laxity, were measured.SL was greater than FL in both preimplantation [8.1° (interquartile range, IQR 2.0°) and 3.8° (IQR 2.9°), respectively] and postimplantation [3.5° (IQR 2.3°) and 2.5° (IQR 2.7°), respectively]. Preimplantation, SL was more likely than FL to categorise knees as correctable to ±3° of the mechanical axis. Preoperative FL correlated with KOOS Symptoms (
r = 0.33,p = .02) and quality of life (QOL) (r = 0.38,p = .01), whereas reducing medial laxity with TKA enhanced postoperative QOL outcomes (p = .02).Functional coronal knee laxity assessment of awake patients is generally lower than intraoperative surgical assessments of anaesthetised patients. Preoperative SL may result in overcorrection of coronal TKA alignment, whereas preoperative FL better predicts postoperative patient outcomes and reflects the patients' native and tolerable knee laxity. Preoperative FL assessment can be used to guide surgical planning.Level II. [ABSTRACT FROM AUTHOR] more...- Published
- 2024
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49. Calibration of Holzapfel-Gasser-Ogden collateral ligament properties in a hybrid post-arthroplasty knee joint model for laxity testing.
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Milakovic, Lucas, Dandois, Félix, Fehervary, Heleen, and Scheys, Lennart
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KNEE joint , *TOTAL knee replacement , *COLLATERAL ligament , *FINITE element method , *JOINT hypermobility - Abstract
Knee collateral ligaments play a vital role in providing frontal-plane stability in post-total knee arthroplasty (TKA) knees. Finite element models can utilize computationally efficient one-dimensional springs or more physiologically accurate three-dimensional continuum elements like the Holzapfel-Gasser-Ogden (HGO) formulation. However, there is limited literature defining subject-specific mechanical properties, particularly for the HGO model. In this study, we propose a co-simulation framework to obtain subject-specific material parameters for an HGO-based finite element ligament model integrated into a rigid-body model of the post-TKA knee. Our approach achieves comparable accuracy to spring formulations while significantly reducing coefficient calibration time and demonstrating improved correlation with reference knee kinematics and ligament strains throughout the tested loading range. [ABSTRACT FROM AUTHOR] more...
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- 2024
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50. Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
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Piwar, Hubert, Ordak, Michal, and Bujalska-Zadrozny, Magdalena
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STOP codons , *JOINT hypermobility , *SHORT stature , *JOINT dislocations , *MISSENSE mutation - Abstract
Skeletal disorders encompass a wide array of conditions, many of which are associated with short stature. Among these, Desbuquois dysplasia is a rare but severe condition characterized by profound dwarfism, distinct facial features, joint hypermobility with multiple dislocations, and unique vertebral and metaphyseal anomalies. Desbuquois dysplasia is inherited in an autosomal recessive manner, with both the DBQD1 (MIM 251450) and DBQD2 (MIM 615777) forms resulting from biallelic mutations. Specifically, DBQD1 is associated with homozygous or compound heterozygous mutations in the CANT1 gene, while DBQD2 can result from mutations in either the CANT1 or XYLT1 genes. This review synthesizes the findings of 111 published case reports, including 54 cases of DBQD1, 39 cases of DBQD2, and 14 cases of the Kim variant (DDKV). Patients in this cohort had a median birth weight of 2505 g, a median length of 40 cm, and a median occipitofrontal circumference of 33 cm. The review highlights the phenotypic variations across Desbuquois dysplasia subtypes, particularly in facial characteristics, joint dislocations, and bone deformities. Genetic analyses revealed a considerable diversity in mutations, with over 35% of cases involving missense mutations, primarily affecting the CANT1 gene. Additionally, approximately 60% of patients had a history of parental consanguinity, indicating a potential genetic predisposition in certain populations. The identified mutations included deletions, insertions, and nucleotide substitutions, many of which resulted in premature stop codons and the production of truncated, likely nonfunctional proteins. These findings underscore the genetic and clinical complexity of Desbuquois dysplasia, highlighting the importance of early diagnosis and the potential for personalized therapeutic approaches. Continued research is essential to uncover the underlying mechanisms of this disorder and improve outcomes for affected individuals through targeted treatments. [ABSTRACT FROM AUTHOR] more...
- Published
- 2024
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