Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Background Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. Main body The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts

Modified dome osteotomy and anterior locking plate fixation for distal radius variant of Madelung deformity: a retrospective study

Purpose Dome osteotomy of the distal radius with Vickers ligament release is an established method of treatment for Madelung deformity. Many different surgical procedures have been proposed in literature but techniques, patient inclusion and efficacy evaluations are heterogeneous. Materials and methods A retrospective review of children affected by 'distal radius' Madelung deformity and treated with a standardized surgical procedure (modified reverse dome osteotomy of the distal radius and volar fixation with a small locking plate) between 2010 and 2018 at a single center was performed. The technique used in this study, reversing the shape of the classical dome osteotomy, allowed for an improved three-planar correction of the distal radial epiphysis and volar plate fixation allowed for an increased stability and reduced soft tissue morbidity. A structured follow-up including a prompt post-operative rehabilitation program (without wrist immobilization) was established. Pain relief, functional outcome and cosmetic appearance were assessed with a structured clinical assessment, DASH Score and radiographic assessment, accordingly. Results A total of 15 wrists in 13 children (12 females, mean age of 15.6 years, range 11-19) were included. The mean follow-up time was 3.8 years. Bone union and pain relief were obtained in all cases. Improvement in the range of motion was detected in extension, supination and flexion of the wrist. Radial inclination was increased by 15.3 degrees and lunate subsidence by 4.1 mm. Conclusions The use of volar fixation with a small locking plate and immediate post-operative rehabilitation for reverse dome osteotomy of the distal radius in pediatric patients affected by 'distal radius' Madelung's deformity is stable and effective

SAT0633-HPR Articular Involvement of the Scleroderma Hand: An Assessment Protocol for Planning Occupational Therapy Strategies

Background: Systemic sclerosis (SSc) is a rare inflammatory connective tissue disease acquired, chronic, progressive of unknown etiology characterized by irregular autoimmune response, changes in the small circle due to vascular disease, fibrosis of the skin and internal organs. Hand impairment is a major cause of morbidity and disability in about 90% of SSc patients Although physiotherapy and rehabilitation programs to prevent and reduce the disability resulting from osteo-articular and skin involvement are recommended, only a few studies have been published on this feature. Objectives: Our study aims an analysis of scleroderma hand through the application of instrumental tests and rating scales to suggest a specific evaluation protocol in order to highlight the main anomalies for planning occupational therapy strategies and to have specific outcome measure. Methods: The study was conducted on 45 patients with SSc. In the protocol were included total active motion-TAM (Strickland), strength of the grip (Jamar dynamometer and pinchmeter) and the evaluation of 16 different types of prehension of objects encountered during activities of daily life. Results: The Strickland measurement showed a symmetrical involvement of the hands for almost all patients (93%); furthermore observed that only 30% of patients have an excellent level in TAM (percentage of scoring higher 85%). A statistically significant reduced total active movement of the dominant hand was documented in diffuse SSc. Furthermore, the fingers more limited and therefore with lower TAM are the 2nd and 5th finger in both hands. At the second finger there is a statistically significant weaker strength of dominant hand related to disease duration in patients with dSSc (P value equals 0.0021). The grip strength (Jamar Dynamometer and Jamar pinchmeter) is extremely reduced in 75% of patients and focuses mainly on the dominant hand. If <15 kg (below normal range), the difference between the strength of dominant and non dominant hand is considered to be very statistically significant and the dominant is weaker (P value <0.017); in subjects without involvement of the hands with strength normal, dominant hand is stronger but there are not statistical difference (p=0.55) The evaluation of 16 different types of prehension tested by a set of objects of different shapes has documented the impairment mainly of palmar grip (44%), tip to tip (37%) and vice (30%), followed by thenar grip, spherical grip and three jaw in a few cases. Conclusions: The documentation for greater involvement of the dominant hand with a reduction of the ROM in particular of 2 and 5 finger associated to decreased grip strength focus on confirm the importance of the hand use in daily life as the cause of greater disease damage. It is essential to plan quickly in patients with early systemic sclerosis an educational program to make the best use of work strategies equally distributed between dominant and non dominant hand and replacement activities for digit handheld, end-to- terminal and vice grip

Correlates of frailty phenotype and frailty index and their associations with clinical outcomes

Frailty is a predictor of adverse health outcomes and can be measured across the life course, including among people living with HIV. The purpose of this study was to examine two commonly used measures of frailty - the frailty index (FI) and frailty phenotype - to assess common characteristics and to describe associations with multimorbidity, falls, and disability in people aging with HIV

Assessing hand grasp in patients with systemic sclerosis using the 16-grasp test: Preliminary results from a multidisciplinary study group

Background: Reports on hand dysfunction and rehabilitation in SSc are quite scarce in the literature and mainly focus on functional assessment tools, such as the Duruoz Hand Index and the HAMIS test for evaluating hand mobility by simulating specific grasps with nine different objects. Purpose of the study: This study aimed to provide an adequate assessment methodology for hand grasp dysfunctions in patients suffering from systemic sclerosis (SSc) through the 16-grasp test. Study design: Case-control study. Methods: Ninety-seven consecutive SSc patients were recruited at our Scleroderma Unit, where a 16-grasp test was performed by all patients and supervised by an experienced hand therapist. Sixteen different patterns of grasp have been divided into power grasps and precision pinch and two more modalities: static and dynamic prehension evaluation on scale from 0 to 4. We also compared previous evaluations on 19 of patients recruited. Results: The majority of SSc patients (84 females and 13 males; mean age 56.0±12.0 years; mean disease duration 8.0±6.0 years) displayed grasp dysfunctions; in particular 48% and 54% reported slight difficulty in the right and left grasps respectively, 6% medium difficulty in both hands, and only 3% and 1% experienced severe difficulty respectively, while 31.5% had no issues in either hand. Our results showed that the limited cutaneous subset (lcSSc) scored a lower deficit for either grasp compared to diffuse form (dcSSc). No statistically significant differences in total grasp deficit had been noticed when comparing patients having a disease duration &lt; 5 years or longer. In the retrospective study on 19 of these patients, 8 out of 10 lcSSc patients showed no significant changes, while in 2 out of 10, slight improvements were observed in both hands. However, in the dcSSc group, 4 out of 9 worsened bilaterally while the grasp scores for 5 of them remained unchanged. Conclusion: Our study reported hand involvement in both lcSSc and dcSSc forms, more significantly in dcSSc patients. This test is intended to be a more objective means of assessing grasp alterations linked to scleroderma hand deformities. Furthermore, thanks to its intuitiveness, the test may be useful for engineers designing personalized ergonomic assistive devices

Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic

Background: Specific data regarding the frequencies of the congenital upper limb anomalies (CULA) according to their aetiology are hardly available due to the heterogeneity across classification systems. In this study, we aim at defining the aetiology of CULA of the patients attending Modena University Hospital’s Congenital Hand Malformations multidisciplinary clinic in the years 2004-2012. Methods: Medical records of 487 patients were retrospectively reviewed. On the basis of clinical, anamnestic and genetic data the CULA were distributed into two main groups: (1) non-mendelian aetiology, including prenatal exposure, somatic mutations and amniotic bands and (2) mendelian aetiology including single gene and genomic/chromosomal diseases. CULA were further grouped according to the embryological damage (formation, separation and growth defects) and to the involved axis (radial, ulnar, central). Results: A mendelian aetiology was diagnosed in 199 patients (40.9%), whereas the remaining 288 cases (59.1%) were described as non-mendelian. The involvement of the lower limbs, the presence of malformations in other organs and facial dysmorphisms were significantly more represented in the mendelian cases. The formation defects were significantly more frequent in the non-mendelian group (p<0.001), whereas the frequency of separation defects was higher in the mendelian cases (p=0.0025). Patients with non-mendelian aetiologies showed a significantly higher frequency of central defects (p=0.0031). Conclusion: The two aetiologies differ in terms of patient’s clinical features, morphology defect and axis involvement. These data may be helpful in the diagnostic workup for the indication to perform genetic testing and for the recurrence risk assessment