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B‐type glenoids are characterized by posterior humeral head migration and/or bony‐erosion‐induced glenoid retroversion. Patients with this type of osteoarthritic glenoids are known to be at increased risk of glenoid component loosening after anatomic total shoulder arthroplasty (aTSA). One of the main challenges in B glenoid surgical planning is to find a balance between correcting the bony shape and maintaining the quality of the bone support. This study aims to systematically quantify variabilities in terms of scapular morphology and bone mineral density in patients with B glenoids and to identify patterns of covariation between these two features. Using computed tomography scan images of 62 patients, three‐dimensional scapular surface models were constructed. Rigid and nonrigid surface registration of the scapular surfaces, followed by volumetric registration and material mapping, enabled us to develop statistical shape model (SSM) and statistical density model (SDM). Partial least square correlation (PLSC) was used to identify patterns of covariation. The developed SSM and SDM represented 85.9% and 56.6% of variabilities in terms of scapular morphology and bone density, respectively. PLSC identified four modes of covariation, explaining 66.0% of the correlation between these two variations. Covariation of posterior–inferior glenoid erosion with posterior sclerotic bone formation in association with reduction of bone density in the anterior and central part of the glenoid was detected as the primary mode of covariation. Identification of these asymmetrical distribution of bone density can inform us about possible reasons behind glenoid component loosening in B glenoids and surgical guidelines in terms of the compromise between bony shape correction and bone support quality. [ABSTRACT FROM AUTHOR]

Gollop–Wolfgang complex (GWC) is a rare congenital limb anomaly characterized by tibial aplasia with femur bifurcation, ipsilateral bifurcation of the thigh bone, and split hand and monodactyly of the feet, resulting in severe and complex limb deformities. The genetic basis of GWC, however, has remained elusive. We studied a three-generation family with four GWC-affected family members. An analysis of whole-genome sequencing results using a custom pipeline identified the WNT11 c.1015G>A missense variant associated with the phenotype. In silico modelling and an in vitro reporter assay further supported the link between the variant and GWC. This finding further contributes to mapping the genetic heterogeneity underlying split hand/foot malformations in general and in GWC specifically. [ABSTRACT FROM AUTHOR]

We wanted to investigate the quantitative characteristics of humeral head migration (HHM) in shoulder osteoarthritis (OA) and their possible associations with scapular morphology. We quantified CT‐scan‐based‐HHM in 122 patients with a combination of automated 3D scapulohumeral migration (=HHM with respect to the scapula) and glenohumeral migration (=HHM with respect to the glenoid) measurements. We divided OA patients in Group 1 (without HHM), Group 2a (anterior HHM) and Group 2b (posterior HHM). We reconstructed and measured the prearthropathy scapular anatomy with a statistical shape model technique. HHM primarily occurs in the axial plane in shoulder OA. We found "not‐perfect" correlation between subluxation distance AP and scapulohumeral migration values (rs = 0.8, p < 0.001). Group 2b patients had a more expressed prearthropathy glenoid retroversion (13° vs. 7°, p < 0.001) and posterior glenoid translation (4 mm vs. 6 mm, p = 0.003) in comparison to Group 1. Binary logistic regression analysis indicated prearthropathy glenoid version as a significant predictor of HHM (χ² = 27, p < 0.001). Multivariate regression analysis showed that the pathologic version could explain 56% of subluxation distance‐AP variance and 75% of the scapulohumeral migration variance (all p < 0.001). Herewith, every degree increase in pathologic glenoid retroversion was associated with an increase of 1% subluxation distance‐AP, and scapulohumeral migration. The occurrence of posterior HHM is associated with prearthropathy glenoid retroversion and more posterior glenoid translation. The reported regression values of HHM in the function of the pathologic glenoid version could form a basis toward a more patient‐specific correction of HHM. [ABSTRACT FROM AUTHOR]

Rotator cuff tear arthropathy (RCTA) is characterized by massive rotator cuff tearing combined with humeral head migration (HHM). The aim of this study is to investigate the quantitative characteristics of this migration and its association with glenoid erosions and prearthropathy scapular anatomy. We quantified HHM and prearthropathy scapular anatomy of 64 RCTA patients with statistical shape modeling‐based techniques. Glenoid erosion was classified according to Sirveaux et al. A cutoff value for confirming HHM was 5 mm based on a control group of 49 patients. Group 1 (RCTA without HHM) consisted of 21 patients, with a mean subluxation distance (SLD) of 3 mm. Group 2 (RCTA with HHM) consisted of 43 patients, with mean SLD of 9 mm, SLD in the anteroposterior plane of −1 mm (SD ± 4 mm), SLD in the superoinferior plane of 7 mm (SD ± 3 mm), and subluxation angle (SLA) of −5° (SD ± 40°). Analysis with Fisher's exact test showed a clear association between HHM and glenoid erosions (p = 0.002). Multivariate regression analysis of Group 2 showed that prearthropathy lateral acromial angle combined with critical shoulder angle (p = 0.004) explained 21% of the observed variability in SLD. The prearthropathy glenoid version explained 23% of the variability in SLA (p = 0.001). HHM in RCTA patients has a wide variation in both magnitude and direction leading to a distorted glenohumeral relationship in the coronal and axial plane. HHM is highly associated with the occurrence of glenoid erosions. There is a correlation between the prearthropathy scapular anatomy and the magnitude and direction of HHM. [ABSTRACT FROM AUTHOR]

Purposes: A septic revision of an artificial joint is routinely split up in a so-called dirty phase and a clean phase. The measures taken to initiate the start of the clean phase vary significantly between musculoskeletal infection centers. We performed simulations of one-step exchanges of infected THAs and sought to 1) determine the effect of different clean phase protocols on the sterile field, and 2) determine whether or not it is possible to re-implant the new prosthesis completely clean. Methods: Nine fresh frozen cadaveric hips were used and primary THA was undertaken via a direct anterior approach. Before implantation of the components varying amounts of fluorescent powder (GloGerm) were deposited, simulating bacterial infection. Second, a one-step exchange was performed via a posterolateral approach. After implant removal, debridement, and lavage, randomization determined which clean phase protocol was followed, i.e. no, some or full additional measures. Finally, the new prosthesis was re-implanted. In order to determine the effect of different clean phase protocols on contamination of the sterile field standardized UV light-enhanced photographs were obtained of 1) the gloves, 2) the instrument table, 3) the drapes, and 4) the wound and these were ranked on cleanliness by a blinded panel of hip surgeons. In order to determine whether or not it is possible to re-implant the prosthesis completely clean, the implant was taken out again at the end of the one-step exchange and inspected for contamination under UV light. Results: The gloves, the instrument table, the drapes and the wound were significantly cleaner after a clean phase using full additional measures compared to partial or no additional measures (p < 0.000). Partial measures were able to reduce some of the contamination of the gloves and the wound, but had no effect on the drapes and the instrument table. All re-implanted implants were contaminated with some amount of fluorescent powder at the end of the one-step exchange. Conclusions: We advise to incorporate a clean phase with full additional measures into the surgical treatment of prosthetic joint infections, as partial measures seem to be a poor compromise. Level of evidence: Not applicable (cadaveric study). [ABSTRACT FROM AUTHOR]

Purpose: The aims of this study were to (1) investigate the effect of hydrodilatation in frozen shoulder patients on objective indices of shoulder functionality and subjective outcomes of pain, mobility, kinesiophobia, depression, and anxiety, and (2) progress knowledge about the reciprocal temporal relationship between psychological parameters at baseline and objective and subjective outcomes at 3-month follow-up. Methods: We evaluated the clinical and psychological status of 72 patients with a frozen shoulder before and after hydrodilatation, using the Constant Murley score, the Visual Analogue score, the Tampa Scale for Kinesiophobia, the Hospital Anxiety and Depression Scale, and the Shoulder Pain And Disability Index. Results: We noted a significant improvement in functionality, pain and disability (p <.001). Depression and anxiety improved significantly (p <.001) between baseline and 3-month follow-up. Prospective analyses demonstrated that psychological factors are more likely to predict outcomes of hydrodilatation than vice versa. Conclusion: Hydrodilatation followed by physiotherapy is an excellent way to treat patients with recalcitrant frozen shoulder, resulting in a continuous improvement of ROM and pain. Physiotherapists and physicians should be aware that psychological factors might have an impact on the treatment outcome. [ABSTRACT FROM AUTHOR]

Background: The effect of reaming on bone volume and surface area of the glenoid is not precisely known. We hypothesize that (1) convex reamers create a larger surface area than flat reamers, (2) flat reamers cause less bone loss than convex reamers, and (3) the amount of bone loss increases with the amount of version correction. Methods: Reaming procedures with different types of reamers are performed on similar-sized uniconcave and biconcave glenoids created from Sawbones foam blocks. The loss of bone volume, the size of the remaining surface area, and the reaming depth are measured and evaluated. Results: Reaming with convex reamers results in a significantly larger surface area than with flat reamers for both uniconcave and biconcave glenoids (p = 0.013 and p = 0.001). Convex reamers cause more bone loss than flat reamers, but the difference is only significant for uniconcave glenoids (p = 0.007). Conclusions: In biconcave glenoids, convex reamers remove a similar amount of bone as flat reamers, but offer a larger surface area while maximizing the correction of the retroversion. In pathological uniconcave glenoids, convex reamers are preferred because of the conforming shape. [ABSTRACT FROM AUTHOR]

Introduction: Recently, arthroscopy of the sternoclavicular joint (SCJ) has been described in clinical setting. The aim of this study is to examine the accessibility and safety of the SCJ by arthroscopy in a cadaveric model. Materials and methods: An inferolateral and superomedial portal to the SCJ was created in 20 cadaveric specimens. After debridement, the specimens were dissected with a needle positioned in the portal tracts. The distance between the needles and bony landmarks, tendons and ligaments were measured. The integrity of the posterior capsule was evaluated macroscopically. In eight specimens, after anterior dissection, the needles were replaced by K-wires that perforated the posterior capsule to evaluate the distance to the neurovascular structures behind the SCJ. Results: Both portals were found to be safe while allowing good access to the joint. The superomedial portal went through the tendon of the sternocleidomastoideus muscle and the inferolateral portal through the pectoralis major muscle. The portals entered the capsule medial and lateral to the anterior sternoclavicular ligament. The posterior capsule was never perforated during debridement. The perforating K-wires, however, usually perforated either a major vein or artery, but were at a safe distance from the vagal nerve. Conclusions: In this cadaver study, arthroscopy of the sternoclavicular joint could be used as a minimally invasive procedure allowing debridement of the joint without damaging the posterior capsule of the joint. If the capsule is inadvertently be breached, a major risk of neurovascular damage exists. We advise to have a backup of a cardiothoracic surgeon when performing this procedure. [ABSTRACT FROM AUTHOR]

Synpolydactyly (SPD, OMIM 186000) is a rare congenital limb disorder characterized by syndactyly between the third and fourth fingers and between the fourth and fifth toes, with partial or complete digit duplication in the syndactylous web. The majority of these anomalies co-segregate with mutations in the HOXD13 gene, a homeobox transcription factor crucial for distal limb development. Different classes of HOXD13 mutations are involved in the pathogenesis of synpolydactyly, but an unequivocal genotype-phenotype correlation cannot always be achieved due to the clinical heterogeneity and reduced penetrance of SPD. All mutations identified so far mapped to the N-terminal polyalanine tract or to the C-terminal homeodomain of HOXD13, causing typical or atypical features of SPD, respectively. However, mutations outside of these domains cause a broad variety of clinical features that complicate the differential diagnosis. The existing animal models that are currently used to study HOXD13 (mal)function are therefore instrumental in unraveling potential genotype-phenotype correlations. Both mouse- and chick-based approaches allow the in vivo study of the pathogenic mechanism by which HOXD13 mutations cause SPD phenotypes as well as help in identifying the transcriptional targets. Developmental Dynamics 243:37-48, 2014. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of the study was to determine the normal three-dimensional relationship between the humeral and the glenoid plane of the individual patient. We measured the three-dimensional angle between the glenoid plane and the humeral plane (glenohumeral angle, °GH) and the angle between the plane of the scapula and the plane of the glenoid (glenoscapular angle, °GS) with the patient in a standardized position to the CT scan gantry. We hypothesized that a normal distribution with a small variation would exist for both angles. Methods: A total of 150 conventional CT scans of normal shoulders from patients aged between 18 and 80 years were examined and three-dimensional reconstructions were derived from it. The descriptive statistics and the variability of °GH and °GS were determined. Results: The mean °GH was 57.9°, and the mean °GS was −3.77°. The overall reliability of the measurement was good. Descriptive statistics of this study confirm the normal distribution and a narrow variation of both parameters. Conclusions: This is the first study to determine the normal 3D relationship between the humerus and the glenoid (°GH). This new three-dimensional anatomical information of the normal glenohumeral relationship and glenoid can be used to distinguish normal from pathological anatomy, as well as alternative surgical guidance especially in bony deficient glenoids. Level of Evidence Level II Anatomical Study. [ABSTRACT FROM AUTHOR]

Introduction The clinical phenotype of the chromosome 2q31 deletion syndrome consists of limb anomalies ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. Additional internal organ anomaliesd--for example, heart defects, ocular anomaliesd--may be present. Hemizygosity for HOXD13 and EVX2 genes was thought to cause the observed skeletal defects. Recently, based on the phenotype of patients with overlapping 2q31 interstitial deletions, a new SHFM5 locus was proposed, proximal to the HOXD cluster, between EVX2 and marker D2S294. DLX1 and DLX2 haploinsufficiency was suggested as the most plausible explanation for the observed SHFM-like limb anomalies in these cases. Methods and results Five unique, interstitial 2q31 deletion patients were selected to further characterise the 2q31 region and to establish a genotype/phenotype correlation map. The size of the deletions was delineated with a chromosome 2 specific tiling path bacterial artificial chromosome (BAC) array. The clinical and molecular data for this group of patients were compared to others in the literature. A common locus for the observed skeletal anomalies, including the HOXD genes and surrounding regulatory sequences, was delineated. These results correlate with recently published studies in animal models. In addition, a critical region for the facial gestalt of the 2q31.1 microdeletion syndrome was delineated. Conclusions These results reinforce the hypothesis that the variable skeletal phenotype in 2q31 deletion patients is a result of hemizygosity for the HOXD genes and that the 2q31.1 microdeletion syndrome is a well defined and clinically recognisable phenotype. [ABSTRACT FROM AUTHOR]

Pollicisation of the index finger for absence or severe hypoplasia of the thumb has been reported as a good procedure to recreate a new ‘thumb’ with good cosmesis and acceptable function. The purpose of this study is to evaluate the outcome of our series from different viewpoints. Seventeen patients with 24 involved hands were willing to come back for evaluation. The mean age at operation was 12 months. In 8 hands there was also a radial club hand. Buck Gramcko’s technique was used with slight modifications. The mean follow-up time was 53 months (ranging from 6 to 142). The outcome was determined in a variety of ways: the functional assessment, cosmesis (objectivated with measurement of thumb length, girth and nail size) and a subjective evaluation of function and aspect done with a patient/parent questionnaire and a visual analogue score. The mean functional score was: one excellent, eleven good, five fair and five poor results. The mean length was 96% the width was 93%, the nail width was 85%. There was no significant different outcome in the syndrome related thumbs versus the isolated cases, unilateral versus bilateral cases. A significant worse outcome was seen for function and subjective evaluation in the radial club hand associated thumbs and for the functional score for the more severe Blauth group. The general outcome for non radial club hand associated thumb reconstructions was satisfying. There was good correlation between the different scoring systems. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 20-year-old professional motocross racer who sustained a left midshaft clavicular fracture. He underwent a successful open reduction and internal plate fixation and was allowed to mobilize actively and passively as tolerated. However, weeks after the surgery, he developed a thrombosis of the axillary and the subclavian vein with an extensive collateral circulation. The article discusses midshaft clavicular fractures and deep venous thrombosis (DVT).

Unlabelled: Implant failure is a serious complication in reverse shoulder arthroplasty. We determined the incidence of glenosphere disengagement in a cohort of 479 reverse shoulder prostheses (468 Delta III [DePuy International Ltd, Leeds, UK], 11 Aequalis [Tornier, Grenoble, France]). We also determined whether disengagement adversely affected clinical outcomes. The minimum followup was 12 months (mean, 28.6 months; range, 12-72 months). Disengagement of the glenosphere occurred in 16 of 479 shoulders (3.2%). In 13 patients, the disengagement was partial (clear step-off between the baseplate and the glenosphere) and was not associated with a poor functional outcome with this short-term followup. In three patients, the disengagement led to a fracture of the central screw, leading to a complete disengagement of the glenosphere from the baseplate, necessitating revision in two; the third refused revision. Partial disengagement was seen in five of 11 Aequalis prostheses (45.4%) and eight of 468 Delta III prostheses (1.7%). The three total disengagements with central screw breakage all occurred in Delta III prostheses. We believe differences in the type of locking screws may explain the differences observed between the two types of reverse prostheses.Level Of Evidence: Level III, retrospective study. See the Guidelines for Authors for a complete description of levels of evidence. [ABSTRACT FROM AUTHOR]

Greig cephalopolysyndactyly (GCPS) (OMIM 175700), a rare autosomal dominant disorder, is characterized by a distinct combination of craniofacial, hand and foot malformations. The hand and foot malformations often require orthopedic assessment and treatment. The disorder is caused by point mutations or deletions in the GLI3 gene, located on chromosome 7p14.3. Herewith, we review the hand and foot malformations in a cohort of 13 patients referred for genetic testing. We reviewed the medical files of 13 patients with GCPS seen at the Center for Human Genetics in Leuven between 2003 and 2005. Clinical, molecular and radiological findings, when available, were recorded. We identified six different point mutations in the GLI3 gene, two microdeletions and three larger chromosomal deletions. In the hands, preaxial polydactyly was never observed, but the malformations included postaxial polydactyly, broad thumbs, clinodactyly of the thumbs and various degrees of syndactyly. In the feet the spectrum of malformations included preaxial polydactyly, postaxial polydactyly, different degrees of syndactyly and broad halluces. Syndactyly of the toes and hallux abnormalities were present in all patients. Most frequently, syndactyly was present between toes 1–2–3. The broadening of the hallux was either due to a complete or partial duplication of the first toe or to broadening of the distal phalanx. Mental retardation was found in three cases and was associated with a large chromosomal deletion of the GLI3 region. We found the classic hand and foot malformations associated with GCPS in our cohort of patients. Patients with a large chromosomal deletion had mental retardation, but no structural brain anomalies were found. [ABSTRACT FROM AUTHOR]

Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic. We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis. A genome-wide linkage analysis in these families, followed by the identification of a microdeletion in an unrelated individual with these diseases, allowed us to map the gene that is mutated in osteopoikilosis. All the affected individuals that we investigated were heterozygous with respect to a loss-of-function mutation in LEMD3 (also called MAN1), which encodes an inner nuclear membrane protein. A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis. XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFßreceptor-activated Smads and antagonized both signaling pathways in human cells. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article "''In Vivo Strain Analysis of the Intact Supraspinatus Tendon by Ultrasound Speckles Tracking Imaging," by Kim Y-S and colleagues in the June 29, 2012 issue

Objective: To examine the effectiveness of a single Botulinum Toxin A (BTX‐A) infiltration in the pectoralis major muscle, in addition to a standard physical therapy (PT) programme on upper limb impairments and dysfunctions after breast cancer treatment. Methods: Fifty breast cancer patients with persistent pain 3 months after finishing treatment participated in a double‐blinded randomised controlled trial. The intervention group received a single BTX‐A infiltration. The control group received a placebo (saline) infiltration. Within one week after the infiltration, all patients attended an individual PT programme (12 sessions) during the first 3 months. Outcome parameters were active shoulder range of motion, upper limb strength, scapular statics and shoulder function. Measures were taken before the intervention, at 1, 3 (i.e. after the intervention) and 6 months follow‐up. Results: No differences between groups were found for all outcome parameters over the course of 6 months. However, overall beneficial effects of the PT for active forward flexion shoulder range of motion and shoulder function were found in both groups. Conclusion: A single Botulinum Toxin A (BTX‐A) infiltration in the pectoralis major muscle, in addition to a PT programme cannot be recommended to treat upper limb impairments and dysfunctions after breast cancer treatment. [ABSTRACT FROM AUTHOR]

Provides information on Sonic Hedgehog pathway and basal cell naevus syndrome. Effect of mutations in the genes involved in the Sonic Hedgehog pathway; Discussion of the hedgehog signalling pathway; Proteins of Sonic Hedgehog receptor complex; Developmental disorders associated with defects in the Sonic Hedgehog pathway.

Presents a case involving a woman who experienced scapular winging after vaginal delivery. Case history; Findings gathered from magnetic resonance imaging; Information on scapular winging.

Background Limb development is a complex process requiring proper spatio-temporal expression of a network of limb specific morphogens. Grem1 and Fmn1 play an important role in mouse and chick limb development. The mouse limb deformity (ld) phenotype with digit reduction, syndactyly, radio-ulnar synostosis, variable renal defects and absent fibulae is caused by loss of Grem1 function. This could be due to either coding Grem1 homozygous mutations or homozygous deletions of the neighbouring Fmn1 gene, which also removes limb specific regulatory sequences of Grem1. Recent studies reinforce the hypothesis that a loss of Fmn1 protein could also contribute to the observed ld anomalies. In addition, an over-expression of Grem1 in developing chick limbs represses the programmed cell death in the interdigital mesenchyme, resulting in interdigital webbing and truncation of distal cartilage elements. Aims/Results For the first time, chromosomal imbalances in the GREM1 FMN1 region in individuals with limb defects are reported here. A 263 Kb homozygous deletion of FMN1 was associated with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects, features identical to ld mice. A 1.7 Mb duplication encompassing both the GREM1 and FMN1 genes was detected in a patient with isolated Cenani-Lenz-like oligosyndactyly of the hands, resembling the transgenic chick wings in which Grem1 was over-expressed. Conclusions The phenotypes of these two patients represent new entities/syndromes within the Cenani-Lenz clinical spectrum: (1) an autosomal recessive oligosyndactyly, radio-ulnar synostosis, hearing loss and renal defect syndrome; and (2) an autosomal dominant Cenani-Lenz-like non-syndromic oligosyndactyly. [ABSTRACT FROM AUTHOR]

To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients including 5 probands with osteopoikilosis or Buschke-Ollendorff syndrome (BOS), 2 families with the co-occurrence of melorheostosis and BOS, and 12 unrelated patients with isolated melorheostosis. Seven novel LEMD3 mutations were identified, all predicted to result in loss-of-function of the protein. We confirm that loss-of-function mutations in the LEMD3 gene can result in either osteopoikilosis or BOS. However, LEMD3 germline mutations were only found in two melorheostosis patients belonging to a different BOS family and one sporadic patient with melorheostosis. The additional presence of osteopoikilosis lesions in these patients seemed to distinguish them from the group of sporadic melorheostosis patients where no germline LEMD3 mutation was identified. Somatic mosaicism for a LEMD3 mutation in the latter group was also not observed, and therefore we must conclude that the genetic defect in the majority of sporadic and isolated melorheostosis remains unknown. © 2006 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]