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Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital syndrome in which thrombocytopenia and the absence of radius can be accompanied by various organ anomalies. Bilateral phocomelia is the most severe form in this clinic. Thumbs are always present. The deletion of the RNA-binding motif protein 8A (RBM8A) gene on chromosome 1q21.1 in Array Comparative Genomic Hybridization confirms the diagnosis of TAR syndrome. Thrombocytopenia, which can cause complications, tends to resolve in the first year of life. Although there are delays in motor development, mental retardation is not one of the common clinical findings of this syndrome. In the differential diagnosis of severe radial defects, TAR syndrome, Holt-Oram syndrome, Roberts syndrome, Fanconi anemia, and VACTERL association are included. The presence of key findings of each syndrome is important in the differential diagnosis. Here, we aimed to evaluate the approach to the differential diagnosis of severe radial anomalies in a patient with TAR syndrome and neuromotor retardation. [ABSTRACT FROM AUTHOR]

Background: Cubital tunnel syndrome can be caused by overtraction and dynamic compression in elbow deformities. The extent to which elbow deformities contribute to ulnar nerve strain is unknown. Here, we investigated ulnar nerve strain caused by cubitus valgus/varus deformity using fresh-frozen cadavers.Methods: We used six fresh-frozen cadaver upper extremities. A strain gauge was placed on the ulnar nerve 2 cm proximal to the medial epicondyle of the humerus. For the elbow deformity model, osteotomy was performed at the distal humerus, and plate fixation was performed to create cubitus valgus/varus deformities (10°, 20°, and 30°). Ulnar nerve strain caused by elbow flexion (0-125°) was measured in both the normal and deformity models. The strains at different elbow flexion angles within each model were compared, and the strains at elbow extension and at maximum elbow flexion were compared between the normal model and each elbow deformity model. However, in the cubitus varus model, the ulnar nerve deflected more than the measurable range of the strain gauge; elbow flexion of 60° or more were considered effective values. Statistical analysis of the strain values was performed with Friedman test, followed by the Williams' test (the Shirley‒Williams' test for non-parametric analysis).Results: In all models, ulnar nerve strain increased significantly from elbow extension to maximal flexion (control: 13.2%; cubitus valgus 10°: 13.6%; cubitus valgus 20°: 13.5%; cubitus valgus 30°: 12.2%; cubitus varus 10°: 8.3%; cubitus varus 20°: 8.2%; cubitus varus 30°: 6.3%, P < 0.001). The control and cubitus valgus models had similar values, but the cubitus varus models revealed that this deformity caused ulnar nerve relaxation.Conclusions: Ulnar nerve strain significantly increased during elbow flexion. No significant increase in strain 2 cm proximal to the medial epicondyle was observed in the cubitus valgus model. Major changes may have been observed in the measurement behind the medial epicondyle. In the cubitus varus model, the ulnar nerve was relaxed during elbow extension, but this effect was reduced by elbow flexion. [ABSTRACT FROM AUTHOR]

Supplemental digital content is available in the text. Introduction: This article presents a unique case study of an individual with congenital limb loss and long-time (>56 years) body-powered prosthesis use, who was able to control a sophisticated robotic upper-limb prosthesis using surface electromyography signals and pattern recognition (PR) algorithms. This case demonstrates that individuals with congenital limb amputation are able to learn unique strategies to intuitively control a dexterous prosthetic limb. Materials and Methods: After completing four training sessions using a virtual integration environment, a single subject participated in 12 in-laboratory clinical training sessions using the modular prosthetic limb (MPL)—a novel multiple–degree-of-freedom dexterous upper-limb prosthesis prototype. Baseline assessments were made with her body-powered prosthesis, as well as a two-site direct-control myoelectric Bebionic she had recently received. Functional assessments with the MPL were conducted during sessions 6 and 12. Outcome measures included timed box and blocks (BB) test, Assessment of Capacity for Myoelectric Control (ACMC), Jebsen-Taylor Hand Function Test (JTHFT), Trinity Amputation and Prosthesis Experience Scale, Upper Extremity Functional Scale (UEFS), and NASA Task Load Index. Results: The subject was able to control two independent wrist degrees of freedom and up to three independent hand grasps of the MPL, using an array of surface electrodes. Improvements in the BB and ACMC were observed, although the total time to complete the JTHFT stayed relatively the same from weeks 6 to 12, using the MPL. While her enpoint perceived funcitonal ability with the MPL was 58% compared with 83% with her personal myoelectric prosthesis (12 hours of use vs 4–5 weeks of use as denoted on the UEFS); the subject reported short length of training, a long-term body-powered prosthetic user with congenital limb loss was able to demonstrate objective improvements in control of a dexterous prosthetic hand over a 12-week period of in-laboratory training, achieving intuitive independent control of a variety of simultaneous individual wrist motions and grasp patterns using PR. Conclusions: This case demonstrates that even individuals with congenital amputation may be considered as candidates for upper-limb PR-controlled myoelectric prosthetic devices using surface electrodes. [ABSTRACT FROM AUTHOR]

Poland's syndrome is a rare congenital malformation that is characterized by a congenital defect of the pectoralis major. It is associated with various ipsilateral upper extremity anomalies and homolateral breast hypoplasia. There have been reports of Poland's syndrome being associated with different malignancies. Here, we report two cases of Poland's syndrome associated with breast cancer (BC) and review the literature. To date, 21 cases (including our two cases) of Poland's syndrome associated with BC have been reported. The clinical characteristics of the disease are analyzed in this report. [ABSTRACT FROM AUTHOR]

Objective: Mechanical neck pain (NP) with referred pain to upper limb is a common problem and often leads to functional impairment of common activities of daily living. The present study is undertaken to study and compare the effect of gross myofascial release (MFR) of upper limb and neck alone with conventional physiotherapy against only conventional treatment in subjects with mechanical NP referred to upper limb in terms of cervical endurance, pain, range of motion, and function. Methods: Design: This was a experimental study; a total of 40 subjects clinically diagnosed with mechanical NP along with referred pain between the age group of 20 and 50 years. Intervention: Control group was given conventional treatment of hot moist pack, TENS, and stretching and strengthening exercise, and experimental group was given gross MFR of the neck and upper limb in addition to conventional therapy. Treatment was given for 6 consecutive days. Outcome measures used were pressure biofeedback to measure cervical endurance, goniometer for cervical ROM, Northwick Park NP questionnaire, and disabilities of arm, shoulder, and hand questionnaire. Results: Statistically significant change was present for pain, cervical flexure endurance, ROM, and functional abilities with P < 0.05 for both the groups except for neck flexor endurance in control group. Conclusion: Gross MFR of upper limb and neck is an effective technique for subjects with mechanical NP and has a faster rate of improvement. [ABSTRACT FROM AUTHOR]

Aim: To evaluate the relationship between the movement abnormalities of the impaired upper limb in children with unilateral cerebral palsy (CP) and bimanual performance.Method: Twenty-three children with unilateral CP (mean age 11y 10mo [SD 2y 8mo]) underwent evaluation of bimanual performance (Assisting Hand Assessment [AHA]) and a three-dimensional movement analysis to measure deviations in the movement of their affected upper limb, and compared with 23 typically developing children (TDC) (mean age 11y 11mo [SD 2y 5mo]). Kinematic indices, such as the Global Arm Profile Score (APS), which summarizes the global movement deviation of the upper limb from the norm, and the Global Arm Variable Score (AVS), which represent movement deviations for a given joint, were calculated and correlated to AHA.Results: Values of kinematic indices were significantly higher in children with unilateral CP than in TDC. A strong correlation between Global-APS and AHA score (r=-0.75) was found. Other significant correlations were found with Global-AVS, especially in distal joints.Interpretation: Children with unilateral CP had more movement deviations than TDC. The global movement deviation of the impaired upper limb was strongly correlated with bimanual performance. The influence of distal abnormalities confirms the importance of considering these limitations in therapeutics.What This Paper Adds: Children with unilateral cerebral palsy had more movement deviations than typically developing children in unimanual tasks. A strong relationship was found between movement deviations of the impaired upper limb and bimanual performance. [ABSTRACT FROM AUTHOR]

Holt--Oram syndrome (HOS) (OMIM#142900) is a rare condition with upper extremity malformations as well as structural and conduction cardiac anomalies. There are sparse reports in the literature documenting malignancy in association with HOS. We report a pediatric patient clinically diagnosed with HOS (missing thumbs bilaterally, atrial septal defect, ventricular septal defect, and first-degree heart block), who also developed B precursor acute lymphoblastic leukemia. During induction of chemotherapy with steroids, she developed profound bradycardia without clinical symptoms. The bradycardia resolved without intervention, but this case highlights the challenges of managing chemotherapy side effects in a patient with congenital heart disease. A literature review pertinent to the associated findings in the case is also presented. [ABSTRACT FROM AUTHOR]

Key points: Experimental pain or its anticipation influence motor preparation processes as well as upcoming movement execution, but the underlying physiological mechanisms remain unknown. Our results showed that movement‐related pain modulates corticospinal excitability during motor preparation. In accordance with the pain adaptation theory, corticospinal excitability was higher when the muscle has an antagonist (vs. an agonist) role for the upcoming movement associated with pain. Anticipation of movement‐related pain also affects motor initiation and execution, with slower movement initiation (longer reaction times) and faster movement execution compared to movements that do not evoke pain. These results confirm the implementation of protective strategies during motor preparation known to be relevant for acute pain, but which may potentially have detrimental long‐term consequences and lead to the development of chronic pain. Abstract: When a movement repeatedly generates pain, we anticipate movement‐related pain and establish self‐protective strategies during motor preparation, but the underlying mechanisms remains poorly understood. The current study investigated the effect of movement‐related pain anticipation on the modulation of behaviour and corticospinal excitability during the preparation of arm movements. Participants completed an instructed‐delay reaction‐time (RT) task consisting of elbow flexions and extensions instructed by visual cues. Nociceptive laser stimulations (unconditioned stimuli) were applied to the lateral epicondyle during movement execution in a specific direction (CS+) but not in the other (CS−), depending on experimental group. During motor preparation, transcranial magnetic stimulation was used to measure corticospinal excitability in the biceps brachii (BB). RT and peak end‐point velocity were also measured. Neurophysiological results revealed an opposite modulation of corticospinal excitability in BB depending on whether it plays an agonist (i.e. flexion) or antagonist (i.e. extension) role for the CS+ movements (P < 0.001). Moreover, behavioural results showed that for the CS+ movements RT did not change relative to baseline, whereas the CS− movements were initiated more quickly (P = 0.023) and the CS+ flexion movements were faster relative to the CS− flexion movements (P < 0.001). This is consistent with the pain adaptation theory which proposes that in order to protect the body from further pain, agonist muscle activity is reduced and antagonist muscle activity is increased. If these strategies are initially relevant and lead to short‐term pain alleviation, they may potentially have detrimental long‐term consequences and lead to the development of chronic pain. [ABSTRACT FROM AUTHOR]

Robot-Assisted Therapy (RT) is an innovative approach to neurological rehabilitation that uses intensive, repetitive, interactive, and individualized practice. This systematic review aimed to investigate the effectiveness of RT on the body function and structure of people with upper limb impairments (PROSPERO registration: CRD42017054982). A search strategy conducted on seven databases identified randomized controlled studies. Methodological quality was assessed using the PEDro scale. When possible, the data were pooled, the strength of evidence was assessed using the GRADE system, and the effect sizes were assessed using Cohen coefficient. Subgroup analyses investigated the impact on the estimated effects of the following parameters: methodological quality; portion of the assessed upper limb; duration of stroke; and intervention dose and duration. Thirty-eight studies involving 1174 participants were included. Pooled estimates revealed small effects of RT on motor control and medium effects on strength compared with other intervention (OI) at a short-term follow-up. Standardized differences in means were as follows: 0.3 (95% CI 0.1 to 0.4) and 0.5 (95% CI 0.2 to 0.8). Effects at other time points and on other investigated outcomes related to body function and structure were not found (p>0.05). The strength of the current evidence was usually low quality. Subgroup analyses suggested that the methodological quality, and duration and dose of RT may influence the estimated effects. In conclusion, RT has small effects on motor control and medium effects on strength in people with limited upper limb function. Poor methodological quality, and lower treatment dose and duration may impact negatively the estimated effects. [ABSTRACT FROM AUTHOR]

Split‐hand/split‐foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of 1 or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosomal recessive manner. Human genome scan using SNP markers followed by whole exome sequencing revealed a frameshift deletion (c.409delA, p.Ser137Alafs*19) in the EPS15L1 gene located on chromosome 19p13.11. This is the first biallelic variant identified in the EPS15L1 gene underlying SHFM. Our findings report the first direct involvement of EPS15L1 gene in the development of human limbs. [ABSTRACT FROM AUTHOR]

Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different entities. Point mutations and duplications in the zone of polarizing activity regulatory sequence (ZRS) are associated with anterior ectopic expression of Sonic Hedgehog (SHH) in the limb bud and usually result in a PPD phenotype. However, some of these mutations/duplications also have LPAD in the phenotype. This unusual PPD-LPAD association in ZRS mutations/duplications has not been specifically reviewed in the literature. The author reviews this unusual entity and gives insights regarding its pathogenesis. [ABSTRACT FROM AUTHOR]

Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review was based on the Human Phenotype Ontology (HPO) project. From the HPO dataset, all phenotypes describing preaxial polydactyly were obtained and related diseases were identified and selected. An overview was generated in a heatmap, in which the phenotypic contribution of 12 anatomical groups to each disease is displayed. Clinical cases were obtained from our hospital database and were reviewed in terms of phenotype, genotype, heredity, and diagnosed syndromes. Results - From the HPO dataset, 21 diseases were related to preaxial polydactyly of the foot. The anatomical groups with the highest phenotypic contribution were lower limb, upper limb, and craniofacial. From our clinical database, we included 76 patients with 9 different diseases, of which 27 had a GLI3 mutation. Lower limb malformations (n = 55), upper limb malformations (n = 59), and craniofacial malformations (n = 32) were most frequently observed. Malformations in other anatomical groups were observed in 27 patients. Interpretation - Preaxial polydactyly of the foot often presents with other upper and lower limb malformations. In patients with isolated preaxial polydactyly of the foot, referral to a clinical geneticist is not mandatory. In patients with additional malformations, consultation with a clinical geneticist is recommended. When additional limb malformations are present, analysis of GLI3 is most feasible. [ABSTRACT FROM AUTHOR]

Introduction. Klippel–Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation. A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup. Upon physical exam and radiographic imaging, the patient was diagnosed with KFS and associated abnormalities including cervical scoliosis, Sprengel deformity, and congenital deformity of the left upper extremity. Deformities of the left upper extremity include radioulnar synostosis, a four-rayed hand, and absent thenar musculature. The Sprengel deformity was corrected surgically with a Woodward procedure. Discussion. Congenital musculoskeletal deformities can be differentiated based upon spinal and limb embryology. The presence of extraspinal abnormalities not originating from somite differentiation may suggest a severe form of KFS. Important considerations in the workup of the KFS patient include looking for deformities of the shoulder girdle and upper extremities to identify abnormalities for intervention at a young age. [ABSTRACT FROM AUTHOR]

Abstract: Background: The Fahn‐Tolosa‐Marin Clinical Rating Scale for Tremor (FTM) has been used in large trials for essential tremor (ET), but its anchors for ratings from 0 to 4 of upper limb tremor are probably too low for patients with severe tremor (tremor amplitude >4 cm; grade 4). The Essential Tremor Rating Assessment Scale (TETRAS) is a validated clinical scale designed specifically for the assessment of ET severity. TETRAS has anchors that span a larger range of tremor amplitudes (>20 cm = grade 4), making it more suitable for assessing patients with severe ET. However, there is no direct comparison of these scales in any clinical trial. Methods: Upper limb postural and kinetic tremor items from both scales were compared using blinded, video‐recorded examinations of patients with moderate‐to‐severe ET who participated in a trial of focused ultrasound thalamotomy. Results: FTM ratings of postural and kinetic tremor correlated strongly with those of TETRAS. However, FTM exhibited a ceiling effect for severe tremor. Rest tremor, exclusive to FTM, correlated poorly with postural and kinetic tremor and had very poor test‐retest reliability. In contrast, wing‐beating postural tremor, exclusive to TETRAS, exhibited excellent test‐retest reliability and a strong correlation with kinetic and limbs‐extended‐forward postural tremor. Test‐retest reliabilities of the other TETRAS and FTM ratings were excellent, and both scales had good sensitivity to treatment effect. Conclusions: TETRAS has 2 main advantages over FTM in the assessment of tremor severity: (1) the absence of a ceiling effect in patients with severe ET, and (2) the inclusion of wing‐beating tremor. [ABSTRACT FROM AUTHOR]

There are a number of considerations that clinicians weigh when guiding patients through the decision-making processes associated with upper-limb prosthetic rehabilitation. While clinical guidance is essential to such decisions, especially for an individual's first prosthesis, many patients benefit from peer mentoring and interaction. The opportunity to speak to someone who has experienced what they are going through can be extremely valuable and appreciated. Thoughtful clinicians have also benefited from years of listening to the perspectives of their patient clientele. The intent of this article is to present two users' perspectives that canvass some of the various considerations associated with congenital deficiency versus acquired limb amputation, unilateral versus bilateral limb absence, and the perceived benefits associated with body-powered and externally powered systems. [ABSTRACT FROM AUTHOR]

The loss of an upper limb significantly limits the functional activities of daily living. A huge emphasis is placed on the manipulation, shape, weight, and comfort of a prosthesis, to enable its use as an inherent body part. Even with technological advances, customized upper-extremity myoelectric prosthesis remain heavy and expensive. The high cost of upper-extremity prosthesis is an especially steep economic barrier for patients. Three-dimensional (3D) printing is a promising avenue for reducing the cost of prosthesis. We applied 3D-printed pressure-sensored prosthetics to a traumatic transradial amputee, and compared the hand functions with a customized myoelectric prosthesis. The 3D-printed pressure-sensored prosthetics showed low grip strength and decreased dexterity compared to the conventional myoelectric prosthesis. Although there were a few limitations, the fabrication of prosthesis with 3D printing technology can overcome previous problems such as high production cost, long fabrication period and heavy weight. [ABSTRACT FROM AUTHOR]

There are a number of considerations that clinicians weigh when guiding patients through the decision-making processes associated with upper-limb prosthetic rehabilitation. While clinical guidance is essential to such decisions, especially for an individual's first prosthesis, many patients benefit from peer mentoring and interaction. The opportunity to speak to someone who has experienced what they are going through can be extremely valuable and appreciated. Thoughtful clinicians have also benefited from years of listening to the perspectives of their patient clientele. The intent of this article is to present two users' perspectives that canvass some of the various considerations associated with congenital deficiency versus acquired limb amputation, unilateral versus bilateral limb absence, and the perceived benefits associated with body-powered and externally powered systems. [ABSTRACT FROM AUTHOR]

Deep vein thrombosis (DVT) is a rare disease in patients with hemophilia A. We report a case of 22-year-old male with severe hemophilia A who presented to the emergency room with 5-day history of right arm pain that was attributed initially to bleeding event. In the absence of external signs of bleeding or hematoma and normal hemoglobin level, we suspected an underlying DVT. Doppler ultrasonography of the right upper limb revealed thrombosis of the subclavian vein and this was confirmed by CT venography. The d-dimer level was normal and investigations for prothrombotic state revealed heterozygosity for prothrombin G20210A mutation. Treatment with factor VIII and low molecular weight heparin led to successful resolution and marked improvement of his clinical condition. [ABSTRACT FROM AUTHOR]

Study design: Validation study using data from a multicenter, randomized, clinical trial (RCT). Objectives: To evaluate the reliability, validity, responsiveness, and minimal important change (MIC) of the Dutch version of the Oxford Elbow Score (OES) and the Quick Disabilities of the Arm, Shoulder, and Hand (Quick-DASH) in patients with a simple elbow dislocation. Background: Patient-reported outcome measures are increasingly important for assessing outcome following elbow injuries, both in daily practice and in clinical research. However measurement properties of the OES and Quick-DASH in these patients are not fully known. Methods: OES and Quick-DASH were completed four times until one year after trauma. Mayo Elbow Performance Index, pain (VAS), Short Form-36, and EuroQol-5D were completed for comparison. Data of a multicenter RCT (n = 100) were used. Internal consistency was determined using Cronbach’s alpha. Construct and longitudinal validity were assessed by determining hypothesized strength of correlation between scores or changes in scores, respectively, of (sub)scales. Finally, floor and ceiling effects, MIC, and smallest detectable change (SDC) were determined. Results: OES and Quick-DASH demonstrated adequate internal consistency (Cronbach α, 0.882 and 0.886, respectively). Construct validity and longitudinal validity of both scales were supported by >75% correctly hypothesized correlations. MIC and SDC were 8.2 and 12.0 point for OES, respectively. For Quick-DASH, these values were 11.7 and 25.0, respectively. Conclusions: OES and Quick-DASH are reliable, valid, and responsive instruments for evaluating elbow-related quality of life. The anchor-based MIC was 8.2 points for OES and 11.7 for Quick-DASH. [ABSTRACT FROM AUTHOR]

Background: Upper limb paresis is one of the most frequent and persistent impairments following stroke. Only 12-34% of stroke patients achieve full recovery of upper limb functioning, which seems to be required to habitually use the affected arm in daily tasks. Although the recovery of upper limb functioning is most pronounced during the first 4 weeks post stroke, there are few studies investigating the effect of rehabilitation during this critical time window. The purpose of this trial is to determine the effect of electrical somatosensory stimulation (ESS) initiated in the acute stroke phase on the recovery of upper limb functioning in a nonselected sample of stroke patients.Methods/design: A sample of 102 patients with upper limb paresis of varying degrees of severity is assigned to either the intervention or the control group using stratified random sampling. The intervention group receives ESS plus usual rehabilitation and the control group receives sham ESS plus usual rehabilitation. The intervention is applied as 1 h of ESS/sham ESS daily, followed by motor training of the affected upper limb. The ESS/sham ESS treatment is initiated within 7 days from stroke onset and it is delivered during hospitalization, but no longer than 4 weeks post stroke. The primary outcome is hand dexterity assessed by the Box and Block Test; secondary outcomes are the Fugl-Meyer Assessment, hand grip strength, pinch strength, perceptual threshold of touch, degree of pain, and modified Rankin Scale score. Outcome measurements are conducted at baseline, post intervention and at 6-month follow-up.Discussion: Because of the wide inclusion criteria, we believe that the results can be generalized to the larger population of patients with a first-ever stroke who present with an upper limb paresis of varying severity. On the other hand, the sample size (n = 102) may preclude subgroup analyses in such a heterogeneous sample. The sham ESS treatment totals a mere 2% of the active ESS treatment delivered to the intervention group per ESS session, and we consider that this dose is too small to induce a treatment effect.Trial Registration: ClinicalTrials.gov, NCT02250365 . Registered on 18 September 2014. [ABSTRACT FROM AUTHOR]

Background: Poland syndrome (PS) is a rare congenital anomaly associated with absent or hypoplastic pectoralis major muscle and a wide spectrum of ipsilateral thoracic and upper extremity deformities. Hidradenitis suppurativa (HS) is a recurrent inflammatory follicular disease that commonly affects the apocrine-bearing skin and involves follicular occlusion and hyperkeratosis. Case Report: We report a case of a 46-year-old male with a history of chronic recurrent hidradenitis suppurativa who was incidentally found to have a simple type of Poland syndrome with incidental hypoplasia of ipsilateral gluteal muscles. Conclusions: Not only can PS present with HS, which we describe for the first time, but it is also associated with a wide variability of symptoms such as previously unknown co-existence of gluteal muscles hypoplasia [ABSTRACT FROM AUTHOR]

Purpose: The biomechanical adaptations in front crawl and backstroke swimming, as influenced by the implementation of a concurrent teaching programme were analysed. Methods: Sixteen participants (19.75 ± 1.13 years) underwent a 30 weeks intervention characterized by an increasing complexity to accomplish motor skills in the following order: (i) lower limbs propulsion; (ii) lower limbs propulsion synchronized with breathing cycle; (iii) lower limbs propulsion synchronized with one upper limb action; (iv) lower limbs propulsion synchronized with both breathing cycle and one upper limb action; (v) full swimming stroke; (vi) motor trajectory of the arms stroke. Performance and biomechanics were measured at front crawl and backstroke during three time points throughout the programme. Results: There were improvements in performance over time at front crawl (21.49 s to 19.99 s, p < 0.01) and backstroke (27.15 s to 24.60 s, p = 0.01). Significant improvements were found for velocity at front crawl (1.13 m/s to 1.22 m/s, p < 0.01) and backstroke (0.92 m/s to 1.00 m/s, p < 0.01). Stroke frequency increased at backstroke (0.64 to 0.73 Hz, p = 0.01), while the intra-cyclic variation of the velocity decreased at front crawl (0.13 to 0.12%, p = 0.02). There was also a moderate-high inter-subject variability in response to the programme. Conclusions: These findings prove that a programme of 30 weeks teaching concurrently front crawl and backstroke is effective to promote similar biomechanical adaptations in low-tier swimmers. However, each subject shows an individual response to better adapt the biomechanical actions and to reach a higher level of expertise. [ABSTRACT FROM AUTHOR]

Purpose: Playing the string instrument predisposes musicians to musculoskeletal problems in the upper extremity and trunk which usually affects more than one anatomical region. These musculoskeletal problems could result in difficulty in performing activities of daily living and playing a musical instrument. The aim of this study was to evaluate disability associated with musculoskeletal problems of string instrumentalists in South Africa by using the quick Disability of the Arms, Shoulder and Hands (DASH) and the Neck Disability Index (NDI) as measuring tools. Materials and methods: String instrumentalists from both amateur and professional orchestras were recruited via an electronic and a paper based survey to participate in the study by completing a self-administered questionnaire. The prevalence of musculoskeletal problems affecting performance was 56.6% and the trunk and shoulders were mainly affected. The overall disability scores of the QuickDASH and the NDI were 12.9 ± 13.2 and 11.5 ± 9.8 respectively. Symptomatic individuals had higher disability scores, 13.9 ± 13.8 (QuickDASH) and 15.0 ± 10.5 (NDI). Conclusion: The presence of musculoskeletal problems in one or more anatomic regions results in activity limitation and participation restriction of activities of daily living and it also impedes performance, therefore, it is important to evaluate the biomechanical structures involved in playing in order to proffer injury prevention strategies directly focussed on the basic components of performance. [ABSTRACT FROM AUTHOR]

Background The Holt-Oram syndrome ( HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. We describe a dramatic phenotype of a male, 15-month-old patient being investigated for strict diagnostic criteria of HOS. Methods and results Genetic analysis revealed a so far unpublished TBX5 mutation, which occurs de novo in the patient with healthy parents. TBX5 belongs to the large family of T-box transcription factors playing major roles in morphogenesis and cell-type specification. The mutation located in the DNA-binding domain at position 920 (C→A) leads to an amino acid change at position 85 (proline → threonine). Three-dimensional analysis of the protein structure predicted a cis to trans change in the respective peptide bond, thereby probably provoking major conformational and functional alterations of the protein. The p.Pro85Thr mutation showed a dramatically reduced activation (97%) of the NPPA promoter in luciferase assays and failed to induce NPPA expression in HEK 293 cells compared to wild-type TBX5 protein. The mutation did not interfere with the nuclear localization of the protein. Conclusion These results suggest that the dramatic functional alteration of the p.Pro85Thr mutation leads to the distinctive phenotype of the patient. [ABSTRACT FROM AUTHOR]

Background: Arthroplasty is a proven treatment option for glenohumeral osteoarthritis. Common indications include primary or posttraumatic osteoarthritis, avascular necrosis of the humeral head, rotator cuff tear arthropathy and rheumatoid osteoarthritis. Arthroplasty is rarely performed among patients with glenohumeral dysmelia. An overuse of the upper limb in patients with thalidomide-induced phocomelia and people with similar congenital deformities like dysmelia results in premature wear of the shoulder joint. This study aims to evaluate our experience with cases of glenohumeral osteoarthritis caused by dysmelia and treated with arthroplasty. To date, few reports on the outcome of shoulder arthroplasty exist on this particular patient group.Case Presentation: We included four dysmelic patients (five shoulders) with substantial glenoid dysplasia in a prospective database after approval by the local ethics committee. Once conservative treatment options had been exhausted, the patients were treated with shoulder arthroplasty and assessed clinically and radiographically before and after surgery. The mean patient age at the time of surgery was 50.4 years. The minimum follow-up time was 24 months (24-91 months). All patients experienced a considerable improvement of range of motion (ROM) and a relief of pain. No intra- or postoperative complications appeared.Conclusion: Patients with dysmelia have acceptable short and mid-term results with resurfacing hemiarthroplasty. It is an effective although somewhat complicated method to relieve pain and improve movement. Long-term performance of arthroplasty in patients with dysmelia remains to be seen, particularly with regard to the remaining problem of the altered and often deficient glenoid. [ABSTRACT FROM AUTHOR]

Background: Phocomelia is an extremely rare congenital malformation that emerged as one extreme of a range of defects resulting from in utero exposure to thalidomide. Individuals with thalidomide embryopathy (TE) have reported developing symptoms suggestive of peripheral nervous system dysfunction in the mal-developed limbs in later life. Methods: Case control study comparing TE subjects with upper limb anomalies and neuropathic symptoms with healthy controls using standard neurophysiological testing. Other causes of a peripheral neuropathy were excluded prior to assessment. Results: Clinical examination of 17 subjects with TE (aged 50.4±1.3 [mean±standard deviation] years, 10 females) and 17 controls (37.9±9.0 years; 8 females) demonstrated features of upper limb compressive neuropathy in three-quarters of subjects. Additionally there were examination findings suggestive of mild sensory neuropathy in the lower limbs (n = 1), L5 radiculopathic sensory impairment (n = 1) and cervical myelopathy (n = 1). In TE there were electrophysiological changes consistent with a median large fibre neuropathic abnormality (mean compound muscle action potential difference -6.3 mV ([-9.3, -3.3], p = 0.0002) ([95% CI], p-value)) and reduced sympathetic skin response amplitudes (-0.8 mV ([-1.5, -0.2], p = 0.0089)) in the affected upper limbs. In the lower limbs there was evidence of sural nerve dysfunction (sensory nerve action potential -5.8 μV ([-10.7, -0.8], p = 0.0232)) and impaired warm perception thresholds (+3.0°C ([0.6, 5.4], p = 0.0169)). Conclusions: We found a range of clinical features relevant to individuals with TE beyond upper limb compressive neuropathies supporting the need for a detailed neurological examination to exclude other treatable pathologies. The electrophysiological evidence of large and small fibre axonal nerve dysfunction in symptomatic and asymptomatic limbs may be a result of the original insult and merits further investigation. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 16-year-old boy who was taken to the emergency room (ER) with redness, pain, and swelling of his upper right arm. The boy is a quarterback of his high school football team but was healthy and active with no medical history before the admission. He was then diagnosed with Paget-Schroetter syndrome (PSS) which is defined as natural thrombus in the axillary and subclavian veins which occurs due to a tough upper-extremity activity.

Background: There has been a recent interest in the development of body-machine interfaces which allow individuals with motor impairments to control assistive devices using body movements.Methods: In this case study, we report findings in the context of the development of such an interface for a 10-year old child with congenital absence of upper and lower limbs. The interface consisted of 4 wireless inertial measurement units (IMUs), which we used to map movements of the upper body to the position of a cursor on a screen. We examined the learning of a task in which the child had to move the cursor to specified targets on the screen as quickly as possible. In addition, we also determined the robustness of the interface by evaluating the child's performance in two different body postures.Results: We found that the child was not only able to learn the task rapidly, but also showed superior performance when compared to typically developing children in the same age range. Moreover, task performance was comparable for the two different body postures, suggesting that the child was able to control the device in different postures without the need for interface recalibration.Conclusions: These results clearly establish the viability and robustness of the proposed non-invasive body-machine interface for pediatric populations with severe motor limitations. [ABSTRACT FROM AUTHOR]

Cervical spinal cord injury (SCI) in humans typically damages both sides of the spinal cord, resulting in asymmetric functional impairments in the arms. Despite this well-accepted notion and the growing emphasis on the use of bimanual training strategies, how movement of one arm affects the motion of the contralateral arm after SCI remains unknown. Using kinematics and multichannel electromyographic (EMG) recordings we studied unilateral and bilateral reach-to-grasp movements to a small and a large cylinder in individuals with asymmetric arm impairments due to cervical SCI and age-matched control subjects. We found that the stronger arm of SCI subjects showed movement durations longer than control subjects during bilateral compared with unilateral trials. Specifically, movement duration was prolonged when opening and closing the hand when reaching for a large and a small object, respectively, accompanied by deficient activation of finger flexor and extensor muscles. In subjects with SCI interlimb coordination was reduced compared with control subjects, and individuals with lesser coordination between hands were those who showed prolonged times to open the hand. Although the weaker arm showed movement durations during bilateral compared with unilateral trials that were proportional to controls, the stronger arm was excessively delayed during bilateral reaching. Altogether, our findings demonstrate that during bilateral reach-to-grasp movements the more impaired arm has detrimental effects on hand opening and closing of the less impaired arm and that they are related, at least in part, to deficient control of EMG activity of hand muscles. We suggest that hand opening might provide a time to drive bimanual coordination adjustments after human SCI. [ABSTRACT FROM AUTHOR]

Objective: The nature of changes in brain activation related to good recovery of arm function after stroke is still unclear. While the notion that this is a reflection of neuronal plasticity has gained much support, confounding by compensatory strategies cannot be ruled out. We address this issue by comparing brain activity in recovered patients 6 months after stroke with healthy controls. Methods: We included 20 patients with upper limb paresis due to ischemic stroke and 15 controls. We measured brain activation during a finger flexion-extension task with functional MRI, and the relationship between brain activation and hand function. Patients exhibited various levels of recovery, but all were able to perform the task. Results: Comparison between patients and controls with voxel-wise whole-brain analysis failed to reveal significant differences in brain activation. Equally, a region of interest analysis constrained to the motor network to optimize statistical power, failed to yield any differences. Finally, no significant relationship between brain activation and hand function was found in patients. Patients and controls performed scanner task equally well. Conclusion: Brain activation and behavioral performance during finger flexion-extensions in (moderately) well recovered patients seems normal. The absence of significant differences in brain activity even in patients with a residual impairment may suggest that infarcts do not necessarily induce reorganization of motor function. While brain activity could be abnormal with higher task demands, this may also introduce performance confounds. It is thus still uncertain to what extent capacity for true neuronal repair after stroke exists. [ABSTRACT FROM AUTHOR]

Standard upper-limb motor function impairment assessments, such as the Fugl-Meyer Assessment (FMA), are a critical aspect of rehabilitation after neurological disorders. These assessments typically take a long time (about 30 min for the FMA) for a clinician to perform on a patient, which is a severe burden in a clinical environment. In this paper, we propose a framework for automating upper-limb motor assessments that uses low-cost sensors to collect movement data. The sensor data is then processed through a machine learning algorithm to determine a score for a patient's upper-limb functionality. To demonstrate the feasibility of the proposed approach, we implemented a system based on the proposed framework that can automate most of the FMA. Our experiment shows that the system provides similar FMA scores to clinician scores, and reduces the time spent evaluating each patient by 82%. Moreover, the proposed framework can be used to implement customized tests or tests specified in other existing standard assessment methods. [ABSTRACT FROM AUTHOR]

Background: The aim was to assess the validity and reliability of the Persian version of shortened disabilities of the arm, shoulder, and hand (Quick-DASH) questionnaire in patients with upper extremity conditions. Methods: We administered the Persian version of Quick-DASH to 202 patients with upper extremity conditions, of which 71 patients randomly returned after 3 days to respond to the questionnaire for the 2nd time. In order to test the construct validity of the questionnaire, patients responded to the Michigan Hand Outcome Questionnaire (MHOQ) and Short Form 36 Health Survey (SF-36) as well. Internal consistency was tested using the Cronbach's alpha, and test-retest reliability was measured using intra-class correlation coefficient (ICC). Results: Cronbach's alpha was 0.90. ICC was 0.89. Convergent validity was confirmed, as the Spearman correlation between the Quick-DASH and MHOQ was 0.67 and ranged from 0.24 to 0.56 between the subscales of the SF-36 and Quick-DASH. Conclusions: Observation of excellent internal consistency, good to excellent test-retest reliability, and moderate to strong construct validity confirms the validity and reliability of the Persian version of Quick-DASH for evaluating the magnitude and level of disability in upper extremity conditions. [ABSTRACT FROM AUTHOR]

In clinical settings, traditional stroke rehabilitation evaluation methods are subjectively scored by occupational therapists, and the assessment results vary individually. To address this issue, this study aims to develop a stroke rehabilitation assessment system by using inertial measurement units. The inertial signals from the upper extremities were acquired, from which three quantitative indicators were extracted to reflect rehabilitation performance during stroke patients' movement examination, i.e., shoulder flexion. Both healthy adults and stroke patients were recruited to correlate the proposed quantitative evaluation indices and traditional rehab assessment scales. Especially, as a unique feature of the study the weight for each of three evaluation indicators was estimated by the least squares method. The quantitative results demonstrate the proposed method accurately reflects patients' recovery from pre-rehabilitation, and confirm the feasibility of applying inertial signals to evaluate rehab performance through feature extraction. The implemented assessment scheme appears to have the potential to overcome some shortcomings of traditional assessment methods and indicates rehab performance correctly. [ABSTRACT FROM AUTHOR]

Radial longitudinal deficiencies are characterized by radial deviation of the wrist, a short and bowed forearm and a non-functional or absent thumb. The deformity is caused by varying degrees of underdevelopment and malformation including hypoplasia of the bones, joints, muscles, tendons, ligaments, nerves and vessels. This study describes our results from centralization in 8 limbs with Bayne type III-IV radial longitudinal deficiencies. We reviewed 8 limbs from 6 patients with a centralization performed between 2002 and 2010. The median patient age at the time of the operation was 2.75 years (range 2-14 years). The sex ratio was 4 male and 2 female. All patients underwent centralization. One patient had an additional 6.5 cm elongation of the ulna bone by means of a circular external fixator (CEF). The median follow-up time from centralization was 4,5 years (range 2-10 years). The result was considered to be excellent in 4 cases, good in 3 cases and fair in 1 case. Radial deviations regenerated in all cases. During follow-up, a radial deviation of 15 degrees developed in one patient; this deviation did not require surgical correction. Hand and wrist movements were within acceptable levels. Movement and function of the wrist and forearm can be obtained through centralization of the wrist and ulnar elongation when necessary. A cosmetically pleasant appearance can be ensured. [ABSTRACT FROM AUTHOR]

Background : To assess disability more efficiently with less burden on the patient, the National Institutes of Health has developed the Patient Reported Outcomes Measurement Information System (PROMIS) Physical Function-an instrument based on item response theory and using computer adaptive testing (CAT). Initially, upper and lower extremity disabilities were not separated and we were curious if the PROMIS Physical Function CAT could measure upper extremity disability and the Quick Disability of Arm, Shoulder and Hand (QuickDASH). Questions/purposes: We aimed to find correlation between the PROMIS Physical Function and the QuickDASH questionnaires in patients with upper extremity illness. Secondarily, we addressed whether the PROMIS Physical Function and QuickDASH correlate with the PROMIS Depression CAT and PROMIS Pain Interference CAT instruments. Finally, we assessed factors associated with QuickDASH and PROMIS Physical Function in multivariable analysis. Methods: A cohort of 93 outpatients with upper extremity illnesses completed the QuickDASH and three PROMIS CAT questionnaires: Physical Function, Pain Interference, and Depression. Pain intensity was measured with an 11-point ordinal measure (0-10 numeric rating scale). Correlation between PROMIS Physical Function and the QuickDASH was assessed. Factors that correlated with the PROMIS Physical Function and QuickDASH were assessed in multivariable regression analysis after initial bivariate analysis. Results: There was a moderate correlation between the PROMIS Physical Function and the QuickDASH questionnaire (r = −0.55, p < 0.001). Greater disability as measured with the PROMIS and QuickDASH correlated most strongly with PROMIS Depression (r = −0.35, p < 0.001 and r = 0.34, p < 0.001 respectively) and Pain Interference (r = −0.51, p < 0.001 and r = 0.74, p < 0.001 respectively). The factors accounting for the variability in PROMIS scores are comparable to those for the QuickDASH except that the PROMIS Physical Function is influenced by other pain conditions while the QuickDASH is not. Conclusions: The PROMIS Physical Function instrument may be used as an upper extremity disability measure, as it correlates with the QuickDASH questionnaire, and both instruments are influenced most strongly by the degree to which pain interferes with achieving goals. Level of Evidence: Level III, diagnostic study. See the Instructions for Authors for a complete description of levels of evidence. [ABSTRACT FROM AUTHOR]

Background Intention tremor and dysmetria are leading causes of upper extremity disability in Multiple Sclerosis (MS). The development of effective therapies to reduce tremor and dysmetria is hampered by insufficient understanding of how the distributed, multi-focal lesions associated with MS impact sensorimotor control in the brain. Here we describe a systems-level approach to characterizing sensorimotor control and use this approach to examine how sensory and motor processes are differentially impacted by MS. Methods Eight subjects with MS and eight age- and gender-matched healthy control subjects performed visually-guided flexion/extension tasks about the elbow to characterize a sensory feedback control model that includes three sensory feedback pathways (one for vision, another for proprioception and a third providing an internal prediction of the sensory consequences of action). The model allows us to characterize impairments in sensory feedback control that contributed to each MS subject's tremor. Results Models derived from MS subject performance differed from those obtained for control subjects in two ways. First, subjects with MS exhibited markedly increased visual feedback delays, which were uncompensated by internal adaptive mechanisms; stabilization performance in individuals with the longest delays differed most from control subject performance. Second, subjects with MS exhibited misestimates of arm dynamics in a way that was correlated with tremor power. Subject-specific models accurately predicted kinematic performance in a reach and hold task for neurologically-intact control subjects while simulated performance of MS patients had shorter movement intervals and larger endpoint errors than actual subject responses. This difference between simulated and actual performance is consistent with a strategic compensatory trade-off of movement speed for endpoint accuracy. Conclusions Our results suggest that tremor and dysmetria may be caused by limitations in the brain's ability to adapt sensory feedback mechanisms to compensate for increases in visual information processing time, as well as by errors in compensatory adaptations of internal estimates of arm dynamics. [ABSTRACT FROM AUTHOR]

In patients with unilateral upper limb paralysis from strokes and other brain lesions, strategies for functional recovery may eventually include brain-machine interfaces (BMIs) using control signals from residual sensorimotor systems in the damaged hemisphere. When voluntary movements of the contralateral limb are not possible due to brain pathology, initial training of such a BMI may require use of the unaffected ipsilateral limb. We conducted an offline investigation of the feasibility of decoding ipsilateral upper limb movements from electrocorticographic (ECoG) recordings in three patients with different lesions of sensorimotor systems associated with upper limb control. We found that the first principal component (PC) of unconstrained, naturalistic reaching movements of the upper limb could be decoded from ipsilateral ECoG using a linear model. ECoG signal features yielding the best decoding accuracy were different across subjects. Performance saturated with very few input features. Decoding performances of 0.77, 0.73, and 0.66 (median Pearson's r between the predicted and actual first PC of movement using nine signal features) were achieved in the three subjects. The performance achieved here with small numbers of electrodes and computationally simple decoding algorithms suggests that it may be possible to control a BMI using ECoG recorded from damaged sensorimotor brain systems. [ABSTRACT FROM AUTHOR]

Background Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. Methods The study was based on data collected during 1990-2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS. Results A total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8% (20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1% (2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births. Conclusions HOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes. [ABSTRACT FROM AUTHOR]

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature. [ABSTRACT FROM AUTHOR]

The electric hand held olive harvesters have a low weight (about 2 kg) and cause the fruit pick up by means of impacts produced by their vibrational tools: for this reason they transmit elevated vibration doses to the operator's hand arm system during the work. In this paper electric beaters of different manufacturers and different models were considered, to analyse their vibrational behaviour in field, during the olive harvesting campaign in a site located in Northern Italy. One operator did the tests, to avoid the operator's uncertainty on the obtained results. All the five examined beaters gave high acceleration values (in a range from 10 to 26 ms-2), but the most restricting data were the daily vibration exposures, calculated considering the real working duration time acquired in field, almost ranged between 10 and 18 ms-2. Also the operator posture during the work (with the arms over the shoulders) may set health problems, related to upper limb disorders, other than the already known musculoskeletal, nervous and vascular pathologies. [ABSTRACT FROM AUTHOR]

Abstract: The repetitive and excessive workload accompanying grip strength- or hand-intensive tasks are often considered to be common causes of work-related upper limb musculoskeletal disorders. For this reason, numerous experimental studies have been performed on maximum grip strength. However, due to an absence of standard guidelines, researchers have adopted different resting times and number of trials suited for their particular research purposes. The effects of resting time and the number of trials on the maximum total grip strength and individual finger forces of 24 participants over 20 trials were investigated. Results showed that the total grip strength and individual finger strengths differed significantly according to the resting time and the number of trials (p <0.05). Overall, grip strength tended to increase with a reduction in resting time (% reduction: 7.8%, 9.1%, 11.1%, and 13.0% for 3min, 2min, 1min, and 30s resting time, respectively) as well as with an increase in the number of trials (% reduction: 8%, 10%, 13%, and 16% for 5th, 10th, 15th, and 20th trials). The effects of resting time and the number of trials also showed statistically significant effects on individual finger forces. Regression equations of total grip strength and finger forces with resting time and number of trials were established. These equations were then applied to formulate guidelines for appropriate resting times in experiments based on the number of trials and acceptable reductions in grip strength. Data from this and future studies regarding decreasing grip strength and the contribution of each finger are expected to form the groundwork for ergonomic hand tool design and development. [Copyright &y& Elsevier]

Abstract: The Rapid Upper Limb Assessment (RULA) is an observation-based screening tool that has been used to assess postural risks of children in school settings. Studies using eye-tracking technology suggest that visual search strategies are influenced by experience in the task performed. This study investigated if experience in postural risk assessments contributed to differences in outcome scores on the RULA and the visual search strategies utilized. While wearing an eye-tracker, 16 student occupational therapists and 16 experienced occupational therapists used the RULA to assess 11 video scenarios of a child using different mobile information and communication technologies (ICT) in the home environment. No significant differences in RULA outcome scores, and no conclusive differences in visual search strategies between groups were found. RULA can be used as a screening tool for postural risks following a short training session regardless of the assessor's experience in postural risk assessments. [Copyright &y& Elsevier]

INTRODUCTION: The physical disability and the level of dependence for daily activities that follow a stroke requires validated and standardized instruments to measure objectively the functional status and the impact of interventions on prognosis. The Motor Activity Log (MAL-30) and Action Research Arm (ARA) scales possess these characteristics, currently being the most used in evaluation of the upper extremity. OBJECTIVE: TO analyze the psychometric properties and utility of MAL-30 and ARA as tools to assess the function of the paretic upper limb after stroke for the clinical practice and research. METHODS: We performed an observational, longitudinal design with clinimetric performance analysis, with a sample of 80 patients. Two measurements were made, at baseline (time 1) clinical and socio-demographic profile, MAL-30 and ARA was applied. One month later (time 2), MAL-30, ARA and Stroke Impact Scale (SIS 3.0) were applied. RESULTS: MAL-30 and ARA have adequate internal consistency and temporal stability. In addition, an appropriate construct validity by correlating significantly and in the expected direction between the two instruments and items of SIS 3.0, spasticity, pain, age, educational level and employment status. CONCLUSIONS: The evidence indicates that both MAL-30 and ARA have psychometric properties that make them ideal tools for assessing functional recovery in the paretic arm. However, it is necessary to consider some characteristics of each instrument before defining its clinical use and research properties. [ABSTRACT FROM AUTHOR]

Background: Breast cancer is the most common type of cancer in women in the developed world. As a result of breast cancer treatment, many patients suffer from serious complaints in their arm and shoulder, leading to limitations in activities of daily living and participation. In this systematic literature review we present an overview of the adverse effects of the integrated breast cancer treatment related to impairment in functions and structures in the upper extremity and upper body and limitations in daily activities. Patients at highest risk were defined. Methods and Findings: We conducted a systematic literature search using the databases of PubMed, Embase, CINAHL and Cochrane from 2000 to October 2012, according to the PRISMA guidelines. Included were studies with patients with stage I–III breast cancer, treated with surgery and additional treatments (radiotherapy, chemotherapy and hormonal therapy). The following health outcomes were extracted: reduced joint mobility, reduced muscle strength, pain, lymphedema and limitations in daily activities. Outcomes were divided in within the first 12 months and >12 months post-operatively. Patients treated with ALND are at the highest risk of developing impairments of the arm and shoulder. Reduced ROM and muscle strength, pain, lymphedema and decreased degree of activities in daily living were reported most frequently in relation to ALND. Lumpectomy was related to a decline in the level of activities of daily living. Radiotherapy and hormonal therapy were the main risk factors for pain. Conclusions: Patients treated with ALND require special attention to detect and consequently address impairments in the arm and shoulder. Patients with pain should be monitored carefully, because pain limits the degree of daily activities. Future research has to describe a complete overview of the medical treatment and analyze outcome in relation to the treatment. Utilization of uniform validated measurement instruments has to be encouraged. [ABSTRACT FROM AUTHOR]

Background The performance capabilities and limitations of control interfaces for the operation of active movement-assistive devices remain unclear. Selecting an optimal interface for an application requires a thorough understanding of the performance of multiple control interfaces. Methods In this study the performance of EMG-, force- and joystick-based control interfaces were assessed in healthy volunteers with a screen-based one-dimensional position-tracking task. The participants had to track a target that was moving according to a multisine signal with a bandwidth of 3 Hz. The velocity of the cursor was proportional to the interface signal. The performance of the control interfaces were evaluated in terms of tracking error, gain margin crossover frequency, information transmission rate and effort. Results None of the evaluated interfaces was superior in all four performance descriptors. The EMG-based interface was superior in tracking error and gain margin crossover frequency compared to the forceand the joystick-based interfaces. The force-based interface provided higher information transmission rate and lower effort than the EMG-based interface. The joystick-based interface did not present any significant difference with the force-based interface for any of the four performance descriptors. We found that significant differences in terms of tracking error and information transmission rate were present beyond 0.9 and 1.4 Hz respectively. Conclusions Despite the fact that the EMG-based interface is far from the natural way of interacting with the environment, while the force-based interface is closer, the EMG-based interface presented very similar and for some descriptors even a better performance than the force-based interface for frequencies below 1.4 Hz. The classical joystick presented a similar performance to the force-based interface and holds the advantage of being a well established interface for the control of many assistive devices. From these findings we concluded that all the control interfaces considered in this study can be regarded as a candidate interface for the control of an active arm support. [ABSTRACT FROM AUTHOR]

Background Various treatments are available for reducible unstable fractures of the distal radius, such as closed reduction combined with fixation by external fixator (EF), and rigid internal fixation using a locked volar plate (VP). Although there are studies comparing these methods, there is no conclusive evidence indicating which treatment is best. The hypothesis of this study is that surgical treatment with a VP is more effective than EF from the standpoint of functional outcome (patient-reported). Methods/design The study is randomized clinical trial with parallel groups and a blinded evaluator and involves the surgical interventions EF and VP. Patients will be randomly assigned (assignment ratio 1:1) using sealed opaque envelopes. This trial will include consecutive adult patients with an acute (up to 15 days) displaced, unstable fracture of the distal end of the radius of type A2, A3, C1, C2 or C3 by the Arbeitsgemeinschaft für Osteosynthesefragen–Association for the Study of Internal Fixation classification and type II or type III by the IDEAL32 classification, without previous surgical treatments of the wrist. The surgical intervention assigned will be performed by three surgical specialists familiar with the techniques described. Evaluations will be performed at 2, and 8 weeks, 3, 6 and 12 months, with the primary outcomes being measured by the Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire and measurement of pain (Visual Analog Pain Scale and digital algometer). Secondary outcomes will include radiographic parameters, objective functional evaluation (goniometry and dynamometry), and the rate of complications and method failure according to the intention-to-treat principle. Final postoperative evaluations (6 and 12 months) will be performed by independent blinded evaluators. For the Student’s t-test, a difference of 10 points in the DASH score, with a 95% confidence interval, a statistical power of 80%, and 20% sampling error results in 36 patients per group. Discussion Results from this study protocol will improve the current evidence regarding to the surgical treatment these fractures. Trial registration ISCRTN09599740. [ABSTRACT FROM AUTHOR]

Aneuploidies cause gene-dosage imbalances that presumably result in a generalized decreased developmental homeostasis, which is expected to be detectable through an increase in fluctuating asymmetry (FA) of bilateral symmetric traits. However, support for the link between aneuploidy and FA is currently limited and no comparisons among different aneuploidies have been made. Here, we study FA in deceased human fetuses and infants from a 20-year hospital collection. Mean FA of limb bones was compared among groups of aneuploidies with different prenatal and postnatal survival chances and two reference groups (normal karyogram or no congenital anomalies). Limb asymmetry was 1.5 times higher for aneuploid cases with generally very short life expectancies (trisomy 13, trisomy 18, monosomy X, triploidy) than for trisomy 21 patients and both reference groups with higher life expectancies. Thus, FA levels are highest in groups for which developmental disturbances have been highest. Our results show a significant relationship between fluctuating asymmetry, human genetic disorders and severity of the associated abnormalities. [ABSTRACT FROM AUTHOR]