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Chronic infantile neurological cutaneous and articular (CINCA) syndrome is an autoinflammatory disease, defined by the triad of urticarial rash, neurological manifestations, and arthropathy, accompanied by recurrent fevers and systemic inflammation. Increasing neurological deficits result from aseptic meningitis. Sensorineural hearing loss and progressive loss of vision caused by keratoconjunctivitis or papilloedema may emerge. An autosomal-dominant inheritance is suspected although sporadic cases are reported frequently. Sixty per cent of CINCA patients carry mutations in the cold-induced autoinflammatory syndrome (CIAS1) gene. We report the favourable response of a 23-year-old CINCA patient without CIAS1 mutations to treatment with the recombinant interleukin-1 (IL-1) receptor antagonist anakinra. [ABSTRACT FROM AUTHOR]

Abstract A 12-year-old girl developed influenza B virus infection proven by typical symptoms and detection of the virus in a nasopharyngeal swab by culture and PCR. Two weeks later she developed an otherwise unexplained transient oligoarthritis of small joints of the left foot. Influenza viruses may be a hitherto underappreciated cause of a post-infectious arthritis.

The induction of the granulocytic differentiation of leukemic cells by all-trans retinoic acid (RA) has been a major breakthrough in terms of survival for acute promyelocytic leukemia (APL) patients. Here we highlight the synergism and the underlying novel mechanism between RA and the granulocyte colony-stimulating factor (G-CSF) to restore differentiation of RA-refractory APL blasts. First, we show that in RA-refractory APL cells (UF-1 cell line), PML-RA receptor alpha (RARα) is not released from target promoters in response to RA, resulting in the maintenance of chromatin repression. Consequently, RARα cannot be recruited, and the RA target genes are not activated. We then deciphered how the combination of G-CSF and RA successfully restored the activation of RA target genes to levels achieved in RA-sensitive APL cells. We demonstrate that G-CSF restores RARα recruitment to target gene promoters through the activation of the extracellular signal-regulated kinase (ERK)/mitogen-activated protein kinase (MAPK) pathway and the subsequent derepression of chromatin. Thus, combinatorial activation of cytokines and RARs potentiates transcriptional activity through epigenetic modifications induced by specific signaling pathways. [ABSTRACT FROM AUTHOR]

Background: A structured transition of adolescents and young adults with chronic autoinflammatory and autoimmune disorders from the pediatric to the adult health care system is important. To date, data on the time, processes, outcome, resources required for the necessary components of the transition process and the associated costs are lacking., Methods: Evaluation of resource use and costs in a prospective cohort study of 58 adolescents with chronic autoinflammatory and autoimmune disorders, for the key elements of a structured transition pathway including (i) compilation of a summary of patient history, (ii) assessment of patients' disease-related knowledge and needs, (iii) required education and counseling sessions, (iv) and a transfer appointment of the patient with the current pediatric and the future adult rheumatologist., Results: Forty-nine of 58 enrolled patients (84.5%) completed the transition pathway and were transferred to adult care. The mean time from the decision to start the transition process to the final transfer consultation was 315 ± 147 days. Transfer consultations were performed in 49 patients, including 10 patients jointly with the future adult rheumatologist. Most consultations were performed by the multidisciplinary team with a median of three team members and lasted 65.5 ± 21.3 min. The cumulative cost of all consultation and education sessions performed including the transfer appointment was 283 ± 164 Euro per patient. In addition, the cost of coordinating the transition process was 57.3 ± 15.4 Euro., Conclusions: A structured transition pathway for patients with chronic autoinflammatory and autoimmune disorders is resource and time consuming and should be adequately funded., (© 2024. The Author(s).)

Non-arteriosclerotic arteriopathies have emerged as important underlying pathomechanism in pediatric arterial ischemic stroke (AIS). The pathogenesis and classification of cerebral arteriopathies in childhood are heterogeneous. Different classifications base on (i) the anatomic site; (ii) the distribution and size of the affected vessel; (iii) the time course, for example, transient vs. progressive, monophasic vs. recurrent; (iv) the putative pathogenesis; (v) the magnetic resonance imaging morphology of the vasculopathies. Inflammation affecting the cerebral vessels is increasingly recognized as common cause of pediatric AIS. Primary cerebral vasculitis or primary angiitis of the central nervous system (CNS) in childhood (cPACNS) is an important differential diagnosis in pediatric AIS. Primary angiitis of the CNS is a rare disorder, and the pathogenesis is poorly understood so far. The current classification of cPACNS is based on the affected cerebral vessel size, the disease course, and angiographic pattern. Two large subtypes are currently recognized comprising large- and medium-sized vessel CNS vasculitis referred to as angiography-positive cPACNS and angiography-negative small vessel cPACNS. As the clinical manifestations of cPACNS are rather diverse, precise diagnosis can be challenging for the treating pediatrician because of the lack of vital laboratory tests or imaging features. Initial misdiagnosis is common because of overlapping phenotypes and pediatric AIS mimics. As untreated cPACNS is associated with a high morbidity and mortality, timely diagnosis, and induction of immunomodulatory and symptomatic therapy are essential. Survival and neurological outcome depend on early diagnosis and prompt therapy. Primary angiitis of the central nervous system in childhood differs in several aspects from primary cerebral angiitis in adults. The aim of this article is to give a brief comprehensive summary on pediatric primary cerebral vasculitis focusing on the clinical perspective regarding the classification, the putative pathogenesis, the disease course, the diagnostic tools, and emerging treatment options. A modified terminology for clinical practice is discussed., (Copyright © 2020 Smitka, Bruck, Engellandt, Hahn, Knoefler and von der Hagen.)

Background: Hallux valgus (HV) adversely affects quality of life. Patients frequently express concerns regarding postoperative foot appearance, foot width and footwear anticipations. However, only scarce data are available regarding postoperative foot width., Materials and Methods: Seventy-one cases with moderate to severe HV treated with scarf osteotomy were included. The average age was 55.7 years (range, 20-76), with average follow-up of 20.7 months (range, 6-96). Patients' medical records were reviewed for demographic, operative, and radiographic data. Foot width was assessed radiographically by measuring both bone (distance between the first and fifth metatarsal heads) and soft tissue width (maximal distance of the soft tissue outline)., Results: Preoperative HV deformity (mean hallux valgus angle [HVA] 35.8 degrees, intermetatarsal angle [IMA] 14.1 degrees, and distal metatarsal articular angle [DMAA] 15.2 degrees) was successfully corrected (postoperative mean HVA 13.7 degrees, IMA 6.9 degrees, and DMAA 7.7 degrees). Overall bony foot width was reduced by 5% and soft tissue foot width by 2%. Further analysis showed that 13 feet (18.3%) had increased (>5%) bone width, 26 feet (36.6%) with no change (±5%), and 32 feet (45.1%) for which the width decreased (>5%) postoperatively. Angular deformity (HVA, IMA, and DMAA) showed low correlation with postsurgery foot width., Conclusion: HV surgery effect on foot width was very limited, overall reducing foot width by 2%. Furthermore, in only about half of the patients, the postoperative foot width decreased, regardless of angular deformity magnitude. Patients with the widest feet had a decrease in foot width following surgery, whereas patients with the narrowest feet had an increase in foot width., Level of Evidence: Level III, comparative series.

[Purpose] The purpose of this study was to evaluate the changes in gait patterns and clinical outcomes of patients with chronic ankle instability (CAI) following treatment with a home-based non-invasive biomechanical device. [Subjects and Methods] Thirty-three patients with CAI were compared with 43 healthy controls. Patients underwent a spatiotemporal gait assessment before and three months following treatment. Clinical evaluation was recorded with SF-36 Health Survey and the Foot and Ankle Outcome Score (FAOS). [Results] Significant baseline differences were found between groups. Patients with CAI showed a statistically significant improvement in velocity, cadence, symptomatic limb step length and single limb support over time. Significant improvements in SF-36 PCS and FAOS outcome scores were found in patients with CAI. [Conclusion] Patients with CAI have baseline spatiotemporal gait abnormalities as compared with healthy controls. However, clinical and gait metrics improvement can be expected after 12 weeks of perturbation training using a non-invasive biomechanical device.

Posterior malleolus fractures vary in morphology. A computed tomography scan is imperative to evaluate fragment size, comminution, articular impaction, and syndesmotic disruption. Despite an increasing body of literature regarding posterior malleolus fractures, many questions remain unanswered. Although, historically, fragment size guided surgical fixation, it is becoming evident that fragment size should not solely dictate treatment. Surgical treatment should focus on restoring ankle joint structural integrity, which includes restoring articular congruity, correcting posterior talar translation, addressing articular impaction, removing osteochondral debris, and establishing syndesmotic stability., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Objective: The purpose of this article is to describe long-term results of the dynamic implant valve approach (DIVA) for the dental implant procedures when the implant system with internal ports was used., Method and Materials: During 2012 to 2015, 378 titanium-aluminum-vanadium implants (Ti6Al4V ELI; diameter 3.75 mm; length 11.5 and 13 mm) were implanted in 172 patients (one to nine implants per patient) using the DIVA technique. The DIVA implants were used in cases when sinus membrane and/or nasal floor elevation procedures were needed. The condition of the implants was assessed during the follow-up period up to 60 months., Results: Out of 378 inserted implants, 257 implants were inserted in the maxilla with the bone level < 5 mm, and 121 implants were inserted in the maxilla with the bone level > 5 mm. In 357 cases (94.5%), the implantation was totally successful both from objective CBCT clinical and subjective patients' viewpoints. The comparison of complication rates between the cases with the bone level < 5 mm and the cases with the bone level > 5 mm indicated no significant difference (P = .32)., Conclusion: Preliminary results that the DIVA simplifies the dental implantation procedure and augmentation treatment were confirmed. The implant with an inner sealing screw can be used in cases with elevation of the maxillary sinus membrane, and simplifies the surgery and secures optimal dental implant placement. This new type of implant simplifies the maintenance phase of implant dentistry and helps to overcome possible complications.

Endoscopic surgery has changed the philosophy and practice of modern surgery in all aspects of medicine. It gave rise to minimally invasive surgery procedures based on the ability to visualize and to operate via small channels. In maxillofacial surgery, our ability to see clearly the surgical field opened an entirely new world of exploration, as conditions that were once almost impossible to control and whose outcome was uncertain can be now predictably managed. in this article we will descripe the advantage of using the oral endoscope during the dental implantology procedure, and we will describe a unique implant which enable us in combination with the oral endoscope to create a maxillary sinus lift with out the need of the major surgery with all of its risks and complication.

Because of its distinct clinical and laboratory features, reflecting systemic inflammation, sJIA can be distinguished from other forms of JIA which usually present as a milder phenotype. The exact pathophysiology of sJIA, however, remains unknown. Profound dysregulation of innate pro- and anti-inflammatory cytokines, and rapid clinical response to cytokine blocking strategies in sJIA patients suggest impaired control mechanisms in innate immune cells contributing to sJIA pathogenesis. Endogenous TLR ligands, such as S100 protein complexes, enhance the pro-inflammatory phenotype. Associations with polymorphisms in cytokine genes and their receptors suggest a genetic component. Furthermore, genetic associations that have been reported in familial hemophagocytic lympohistiocytosis also exist in patients with sJIA-associated macrophage activation syndrome, a severe complication of sJIA. Reported mutations in single genes, however, are too weak to confer sJIA, suggesting a multi-factorial mode of inheritance. We provide an overview of current pathophysiological concepts, state-of-the-art treatment regimens, and unanswered questions in sJIA., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Up to 40% of ankle sprains can result in chronic ankle instability (CAI). The prevalence of CAI and its association with body mass index (BMI) and height in the general young adult population has not been reported. The database records of young adults before recruitment into mandatory military service were studied. Information on the disability codes associated with CAI was retrieved. Logistic regression models were used to assess the association between the BMI and body height with various grades of CAI severity. The study cohort included 829,791 subjects (470,125 males and 359,666 females). The prevalence was 0.7% for mild CAI and 0.4% for severe instability in males and 0.3% and 0.4%, respectively, for females (p < .001). An increased BMI was associated with ankle instability in males (overweight, odds ratio [OR] 1.249, p < .001; obese, OR 1.418, p < .001) and females (overweight, OR 1.989 p < .001; obese, OR 2.754, p < .001). The body height was associated with an increased risk of CAI when the highest height quintile was compared with the lowest height quintile in both males (OR 2.443, p < .001) and females (OR 1.436, p < .001) for all levels of instability severity. The present study has shown a greater prevalence of CAI among males than females in a general healthy young adult population. CAI was associated with an increased BMI and greater body height for all grades of instability severity., (Copyright © 2015 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on communication, motor impairments, and hand stereotypies, behavioral abnormalities are a prevalent and disabling component of the RTT phenotype. Among these problematic behaviors, anxiety is a prominent symptom. While the introduction of the Rett Syndrome Behavioral Questionnaire (RSBQ) represented a major advancement in the field, no systematic characterization of anxious behavior using the RSBQ or other standardized measures has been reported., Methods: This study examined the profiles of anxious behavior in a sample of 74 girls with RTT, with a focus on identifying the instrument with the best psychometric properties in this population. The parent-rated RSBQ, Anxiety, Depression, and Mood Scale (ADAMS), and Aberrant Behavior Checklist-Community (ABC-C), two instruments previously employed in children with neurodevelopmental disorders, were analyzed in terms of score profiles, relationship with age and clinical severity, reliability, concurrent validity, and functional implications. The latter were determined by regression analyses with the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II) and the Child Health Questionnaire (CHQ), a quality of life measure validated in RTT., Results: We found that scores on anxiety subscales were intermediate in range with respect to other behavioral constructs measured by the RSBQ, ADAMS, and ABC-C. Age did not affect scores, and severity of general anxiety was inversely correlated with clinical severity. We demonstrated that the internal consistency of the anxiety-related subscales were among the highest. Test-retest and intra-rater reliability was superior for the ADAMS subscales. Convergent and discriminant validity were measured by inter-scale correlations, which showed the best profile for the social anxiety subscales. Of these, only the ADAMS Social Avoidance showed correlation with quality of life., Conclusions: We conclude that anxiety-like behavior is a prominent component of RTT's behavioral phenotype, which affects predominantly children with less severe neurologic impairment and has functional consequences. Based on available data on standardized instruments, the ADAMS and in particular its Social Avoidance subscale has the best psychometric properties and functional correlates that make it suitable for clinical and research applications.

Background: Most studies on the prevalence of flexible pes planus (FPP) have been conducted in pediatric populations and older adults. There is limited comparable information on these parameters for the adolescent age group. The purpose of this study was to report the prevalence of FPP and its association with body mass index (BMI), body height, and gender among healthy and fit adolescents., Methods: The data for this study were derived from a medical database containing records of 17-year-old males and females before their recruitment into mandatory military service. Information on the disability codes associated with FPP according to the Regulations of Medical Fitness Determination was retrieved. Logistic regression models were used to assess the association between BMI, body height, and gender to various grades of FPP severity., Results: The study cohort included 825 964 adolescents (467 412 males and 358 552 females). The prevalence was 12.4% for mild FPP and 3.8% for severe FPP among the males and 9.3% and 2.4%, respectively, for the females. An increased BMI was associated with FPP in both males (overweight: odds ratio [OR] 1.385, confidence interval [CI] 1.352-1.419, P < .001; obese: OR 1.765, CI 1.718-1.813, P < .001) and females (overweight: OR 1.408, CI 1.365-1.620, P < .001; obese: OR 1.549, CI 1.481-1.620, P < .001). Body height was associated with a decreased risk of FPP when the highest height quintile was compared with the lowest height quintile in both males (OR 0.782, CI 0.762-0.802, P < .001) and females (OR 0.730, CI 0.707-0.754, P < .001) for all FPP severity grades., Conclusions: There was a greater prevalence of FPP among males compared with females in a general healthy adolescent age group. FPP was associated with increased BMI and shorter body height for all grades of FPP severity., Level of Evidence: Level II, diagnostic study.