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Macrodystrophia lipomatosa (MDL) is a rare congenital, nonhereditary anomaly characterized by overgrowth of all the mesenchymal elements, predominantly the fibroadipose tissue in a sclerotomal distribution commonly involving the median nerve territory in the upper extremity and plantar nerve territory in the lower extremity. It can be either static or progressive, with the former being the more common. MDL is usually present since birth and the affected digit/region increases in length and girth, and growth ceases after puberty. We discuss a rare case of ulnar nerve territory involvement that progressed to grow even after puberty. [ABSTRACT FROM AUTHOR]

The inclusion of health professionals who have some type of disability brings benefits, such as the increase in empathy that facilitates the relationship with patients. In this work, we present a case study on the inclusion of an undergraduate Dentistry student with upper limb agenesis. In order to improve the quality of life for people with upper limb agenesis, it is urgent to establish inclusion strategies in the educational field. This process included the use of assistive technologies to allow the manipulation of instruments used in the practice of dental clinical activities, enabling future Dentists with upper limb agenesis to have an equal education in relation to their academic peers. The case study presented in this work consists of the follow-up of G., a 23-year-old female Dentistry student. The developed adaptations were made using a low-temperature thermoplastic. The expert team that participated in this process was formed by three occupational therapists and three Dentistry professors. The process included several stages, being the last one the integration, in which training sessions were performed. The process was accessed using two main tools: quantitative questionnaires and qualitative interviews. After the proposed intervention, the volunteer presented a gradual evolution in her occupational performance with the use of most adaptations, promoting her functional training. Most adaptations allowed G. to perform the activities satisfactorily, with the precision inherent to these tasks, even with little training time. This case study demonstrates the high applicability of the proposed technologies. In order to improve the quality of life for people with upper limb agenesis, it is urgent to establish inclusion strategies in the educational field, as assessed in this study case The inclusion process of Dentistry students can include the use of assistive technology to allow the manipulation of instruments for the practice of clinical activities Our study suggests that the assistive adpatations promote a gradual evolution in the students' occupational performance, functional training and motor qualification [ABSTRACT FROM AUTHOR]

Holt-Oram syndrome comprises a rare spectrum of congenital cardiovascular and appendicular skeletal anomalies. However, only a few cases have reported lung involvement in Holt-Oram syndrome. We reported the rare case of a 1-year-old male child patient who presented with upper limb abnormalities and respiratory distress and was diagnosed with pulmonary agenesis and pulmonary arterial hypertension secondary to an atrial septal defect. [ABSTRACT FROM AUTHOR]

To examine whether accelerometry can quantitate asymmetry of upper limb activity in infants aged 3–12 months at risk for developing unilateral spastic cerebral palsy (USCP). A prospective study was performed in 50 infants with unilateral perinatal brain injury at high risk of developing USCP. Triaxial accelerometers were worn on the ipsilateral and contralesional upper limb during the Hand Assessment for Infants (HAI). Infants were grouped in three age intervals (3–5 months, 5–7.5 months and 7.5 until 12 months). Each age interval group was divided in a group with and without asymmetrical hand function based on HAI cutoff values suggestive of USCP. In a total of 82 assessments, the asymmetry index for mean upper limb activity was higher in infants with asymmetrical hand function compared to infants with symmetrical hand function in all three age groups (ranging from 41 to 51% versus − 2–6%, p < 0.01), while the total activity of both upper limbs did not differ. Upper limb accelerometry can identify asymmetrical hand function in the upper limbs in infants with unilateral perinatal brain injury from 3 months onwards and is complementary to the Hand Assessment for Infants. [ABSTRACT FROM AUTHOR]

Introduction: Despite the prevalence of congenital limb deficiencies (CLDs) occurring in around 7.9/10,000 births (Am J Med Genet A. 2011;155A:1225-1235), there is still a gap in the knowledge regarding the etiology of a large proportion of cases, and literature addressing this topic is sparser compared with other conditions. Objective: The aim of this study is to assess the literature surrounding the causes of CLDs and use this to suggest the area in which a potential gap in the information on the causes of CLDs lies. Study Design: This study is a literature review on articles published from the year 2000 onward. Methods: A search was conducted on five databases (CINAHL, Scopus, PubMed, Embase, Cochrane Library) and the ProQuest platform resulting in 18 articles to be discussed, after inclusion and exclusion criteria were applied and critical appraisals were completed. Results and Discussion: The main findings could be separated into four themes including genetics, environment, drugs, and vascular. Comparisons were made among similar literature, although within some topics, this was less effective, given the specificity and reduced volume of research. Positive correlations were seen in all studies; however, the biggest underlying factor for most causes seemed to originate from a vascular disruption. Conclusions: Future studies should focus on an underlying vascular disruption as a base for further research to attempt to find reasoning for the proportion of CLDs with an unknown cause. Further attempts should be made into creating a consensus on classifying and recording CLDs to ensure a more uniform approach to this topic worldwide, allowing comparisons to be drawn more easily. Clinical Relevance: Understanding relevant terminology is vital to ensure that families experiencing CLD receive accurate information about their child's condition. This understanding will also lead to improvements in the quality of recorded data, such as clinical notes and registry inputs. [ABSTRACT FROM AUTHOR]

Producing triggers to switch between modes of myoelectric prosthetic hands has proven to be difficult. We evaluated whether digital training methods were feasible in individuals with an upper limb defect (ULD), whether myosignals in these individuals differ from those of non-impaired individuals and whether acquired skills transfer to prosthesis use. Two groups participated in a 9-day pre-test–post-test design study with seven 45-minute training sessions. One group trained using a serious game, the other with their myosignals digitally displayed. Both groups also trained using a prosthesis. The pre- and post-tests consisted of an adapted Clothespin Relocation Test and the spherical subset of the Southampton Hand Assessment Procedure. After the post-test, the System Usability Scale (SUS) was administered. Clinically relevant performance measures and myosignal features were analysed. Four individuals with a ULD participated. SUS-scores deemed both training methods feasible. Three participants produced only a few correct triggers. Myosignals features indicated larger variability for individuals with a ULD compared to non-impaired individuals (previously published data [1]). Three participants indicated transfer of skill. Even though both training methods were deemed feasible and most participants showed transfer, seven training sessions were insufficient to learn reliable switching behaviour. Trial registration: The study was approved by the medical ethics committee of the University Medical Center Groningen (METc 2018.268). Switching between pre-programmed modes of a myoelectric prosthetic hand can be learned, however it does require training. Serious games can be considered useful training tools for trigger production in early phases of myoelectric prosthesis control training. In order to evoke transfer of skill from training to daily life both task-specificity and focus of attention during training should be taken into account. [ABSTRACT FROM AUTHOR]

Introduction: To support clinicians who treat children with upper-limb differences, we must first understand how these children are treated around the world. Study Design: A descriptive survey was carried out in this study. Objectives: The aim was to describe how treatment for children with upper-limb difference is provided in different parts of the world. Methods: A web-based survey was used to gather data. The survey was shared on the Handsmart website, through providers and members using snowball sampling. Results: Sixty-eight respondents from 18 countries, with most being occupational therapists and prosthetists, participated. All respondents reported that they provide prosthetic treatment and most fit a passive prosthesis before 1 year of age. Respondents from 13 countries reported having governmental funding for the provision of care for people with upper-limb loss. Intervention is guided by the presentation of the limb as well as availability of funding and other resources. In 12 countries, no treatment other than fitting of prostheses is provided for the children. The children who do not receive a prosthesis continue to see an occupational or physical therapist for other treatment (other devices, follow-up). Respondents stated that they would like to see clear treatment guidelines used by multidisciplinary teams to fit children and that treatment should include regular follow-up. Conclusions: Children are treated differently in various parts of the world based on different funding, family support, and therapy resources. Further studies should encompass a geographically representative sample of children's clinics. Clinical Relevance: This study provides information regarding treatment practices for children with upper-limb loss/difference in various parts of the world; prosthetic treatment is common for children, although ages for fitting vary among clinics and countries. Results will contribute by supporting clinicians to provide better treatment for children with upper-limb loss/difference. [ABSTRACT FROM AUTHOR]

To guide better prevention and treatment and to develop research priorities, this study aims to create an overview of facilitators and barriers for the development and persistence of musculoskeletal complaints (MSCs) in individuals with upper limb absence (ULA). Exploratory mixed methods design. A focus group (FG) was organized with individuals with ULA about MSCs and associated factors. An inductive approach was employed to the transcript and the studies. A scoping review was performed to systematically identify barriers and facilitators. The International Classification of Functioning, Disability, and Health was used to create an integrated overview of the results. Eleven participants participated in the FG, eight of them currently sustained or had sustained MSCs in the last year. Ten studies were included in the scoping review. The final overview consisted of 67 associated factors. Participants of the FG predominantly mentioned psychosocial factors, whereas the literature dominantly reported biomechanical factors. The extensive overview of 67 factors showed that facilitators and barriers for MSCs are heterogeneous and aids in a better understanding of the complex nature of MSCs. Several biomechanical and psychosocial factors contribute to MSCs, but the association with a prosthesis remains unclear. Musculoskeletal complaints (MSCs) are highly prevalent in the population with upper limb absence (ULA) and the overview of 67 factors could help in the prevention and treatment of MSCs. Psychosocial factors in the development and persistence of MSCs are underreported in literature, but are important contributors to MSCs according to patients. Wearing a prosthesis does not seem to be protective for the development or persistence of MSCs. Social support, especially from significant others and employers, is essential to help protect MSCs in those with ULA. [ABSTRACT FROM AUTHOR]

Introduction: Understanding repair patterns of upper-limb (UL) prosthetic devices have received little attention compared with their lower-limb counterparts. This study focuses on a retrospective analysis of anonymized UL prosthetic maintenance data to establish if there were any patterns of repairs at a regional prosthetic limb-fitting center in the United Kingdom. A secondary aim of this study is to describe the patient demographics of this center. Methods: Data containing prosthetic repair log and demographic description (n = 212) were acquired through our clinical partners and subjected to statistical analyses. Results: On average, each client visited the center 0.2 times/year for a new device and 0.9 times/year for maintenance-related activities. It is found that the repair rates are generally higher for body-powered devices (1.28 visits/device per year) compared with passive (0.94 visits/device per year) and externally powered devices (0.90 visits/device per year). In keeping with the typical UK UL-deficient population, there is a high male-to-female ratio, and higher instances of traumatic amputations were noticed for males at the center. There is a very high preponderance of congenital cases and an overall emphasis on prescribing passive devices to a majority of patients at the center. Conclusions: The data from our study are similar to previously published data from other centers and show a consistent pattern in terms of relative rates of maintenance attendances for different types of UL prostheses. Clinical Relevance: This study provides a longitudinal perspective and insights on ever-changing requirements (prostheses and related care) of the users at the level of a regional limb-fitting center. This study underscores current gaps in prosthetic device durability/reliability and opens up avenues for improvement of prosthetic services and devices. [ABSTRACT FROM AUTHOR]

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]