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The aim of this study was to identify contextual factors that negatively affect activity and participation among powerchair football (PF) players. Thirty-seven semistructured interviews were conducted with PF players (Mage = 27.9 ± 8.2 years) in France (n = 18) and the United States (n = 19). Participants reported acute back and neck pain as the primary morbidities resulting from PF participation, with sustained atypical posture in the sport chair as the primary cause. Competition-related physical and mental stress were also identified as participation outcomes. Accompanying the many benefits of PF, participants recognized negative impacts of discomfort, physical fatigue, and mental fatigue. Interventions such as seating modifications, thermotherapy to combat pain, napping to combat acute physical stress, and mental preparation to manage state anxiety were all identified as prospective interventions. [ABSTRACT FROM AUTHOR]

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare peripheral neurological disorder that manifests with increased sensitivity to pressure. In people with this disorder, the peripheral nerves are unusually sensitive to pressure. Minor trauma or compression causing paralysis in the extremities is a hallmark of this disorder. Ensuring there is no pressure on the extremities is recommended as a preventive measure. We describe for the first time, postoperative vocal cord paralysis in a patient with HNPP due to left recurrent laryngeal nerve palsy. Anesthesiologists and surgeons should be aware of this possible complication in patients with HNPP.

Arthrogryposis is a clinical feature defined by congenital joint contractures in two or more different body areas which occurs in between 1/3000 and 1/5000 live births. Variants in multiple genes have been associated with distal arthrogryposis syndromes. Heterozygous variants in MYH3 have been identified to cause the dominantly‐inherited distal arthrogryposis conditions, Freeman–Sheldon syndrome, Sheldon–Hall syndrome, and multiple pterygium syndrome. In contrast, MYH3 variants underlie both dominantly and recessively inherited Contractures, Pterygia, and Spondylocarpotarsal Fusion syndromes (CPSFS) which are characterized by extensive bony abnormalities in addition to congenital contractures. Here we report two affected sibs with distal arthrogryposis born to unaffected, distantly related parents. Sequencing revealed that both sibs were homozygous for two ultra‐rare MYH3 variants, c.3445G>A (p.Glu1149Lys) and c.4760T>C (p.Leu1587Pro). Sequencing and deletion/duplication analysis of 169 other arthrogryposis genes yielded no other compelling candidate variants. This is the first report of biallelic variants in MYH3 being implicated in a distal arthrogryposis phenotype without the additional features of CPSFS. Thus, akin to CPSFS, both dominant and recessively inherited distal arthrogryposis can be caused by variants in MYH3. [ABSTRACT FROM AUTHOR]

Akabane virus is a teratogenic pathogen transmitted by Culicoides spp. to ruminants. The virus induces anomalies in the central nervous system in the developing fetus, resulting in arthrogryposis-hydranencephaly (A-H) syndrome. During three outbreaks of the disease (2002, 2013, and 2020), 77 calves were born in Varamin, Iran, with A-H syndrome. The presenting neurologic signs were categorized into three main groups, as common, less common, and uncommon signs. The common signs were unawareness of the surroundings, blindness, deep depression, partial failure of suckling, and unintelligent behavior. The less commonly noted signs were hyperexcitability, regurgitation, head pressing, compulsive walking, and kicking, while the uncommon signs comprised protrusion of the tongue, making sounds resembling barking, carnivore-like milk drinking, and deafness. Arthrogryposis, dome-shaped skull, kyphosis, torticollis, lordosis, scoliosis, and spina bifida were the diagnosed skeletal defects. Upon necropsy, hydranencephaly, hydrocephaly, and microencephaly were seen in the calves presenting neurologic signs, while astrocytosis, astrogliosis, focal gliosis, perivascular, perineuronal, and submeningeal edema, perivascular cuffing, non-suppurative meningitis, non-suppurative encephalitis and lymphoplasmacytic infiltration, and perivascular and parenchymal hemorrhage were seen in samples obtained from the brains. RT-PCR detected Akabane virus in the brain tissues of the affected calves. This is the first clinical study of Akabane disease in calves in Iran. [ABSTRACT FROM AUTHOR]

Background: The treatment results of the Ponseti method for arthrogrypotic clubfoot have been described in only a few case series. Further evaluations are necessary. Methods: Children from two German paediatric orthopaedic hospitals with arthrogryposis-associated clubfoot treated with the Ponseti method between 2004 and 2011 and who were at least five years of age at their last follow-up were retrospectively evaluated. The endpoints were the clinical foot position, necessary surgeries during the follow-up period and radiological constellations. A comprehensive literature review was conducted after a systematic literature search. Results: Seventeen patients (47% with amyoplasia [AP] and 53% with distal arthrogryposis [DA]) met the inclusion criteria. Thirty-one feet were evaluated. The period between the treatment start and the last follow-up examination covered 8.9 ± 2.5 years. After the last cast removal within the initial Ponseti cast series, 74% of the clinical results were good to excellent. However, the clinical outcomes in the patients with AP were significantly worse. Overall, in 23 feet (74%), at least one major surgery at the age of 2.9 ± 2.2 years was necessary during the clinical course. Major surgeries were much more frequent on the feet of the patients with AP than with DA. Lateral X-rays showed normal age-appropriate radiological angles in 4% of the feet, hindfoot equinus in 19%, under-corrected hindfoot in 44%, under-corrected clubfoot in 26% and rocker bottom deformity in 7%. The radiological residual deformities in AP were much more severe than in DA (p = 0.042). Most of the studies reviewed (11 case series, 144 patients) reported high initial clinical correction rates, followed by high recurrence rates and the need for further surgeries. Conclusion: About a quarter of the arthrogrypotic patients benefited from the Ponseti therapy without further major surgery. However, the clinically observed high initial correction rate after Ponseti therapy of arthrogrypotic clubfoot was not accompanied by a correction of the bony foot position in the X-rays. The feet of the patients with DA had better outcomes than those of the patients with AP. Therefore, in outcome studies, a clear distinction between patients with AP and those with DA is necessary. [ABSTRACT FROM AUTHOR]

ZC4H2 -associated rare disorder (ZARD) is caused by pathogenic variations in the ZC4H2 gene on the X chromosome. This gene codes for a zinc finger protein involved in neural development. ZARD is characterized by highly variable symptoms, potentially influenced by the sex of the individual. The ZC4H2 -Associated Rare Disorder Natural History Study is a prospective natural history study conducted among individuals with ZARD that consists of standardized interviews, developmental assessments, and neurological examinations conducted every six months for two years. In this article, we present data from baseline visits with 40 participants, the largest ZARD cohort studied thus far, focusing on genotype-phenotype correlations and sex differences. Fisher exact, maximum likelihood χ 2, and Mann-Whitney tests were utilized. Males tended to have maternally inherited ZC4H2 pathogenic variations, whereas females tended to have de novo variations (P < 0.001). Female participants were more likely to have contractures at birth (P < 0.01), arthrogryposis multiplex congenita (P < 0.001), spasticity on examination (P < 0.1), and lower limb muscle atrophy (P < 0.05). Male participants were more likely to have seizures (P < 0.1), intermittent pain (P < 0.01), severe vision impairment (P < 0.05), dysphagia for solids (P < 0.01), and generalized muscle atrophy (P < 0.05). Our study suggests there is significant overlap in severity and range of symptoms between males and females, although several symptoms are more common in one sex than the other. Further analysis is needed to better understand how pathogenic variation type affects phenotype. [ABSTRACT FROM AUTHOR]

Purpose: To identify the perceived facilitators and barriers among clinicians and managers about the uptake of expert guidance for rehabilitation of children with arthrogryposis multiplex congenita (AMC) in practice. Methods: Qualitative study using individual interviews, guided by the Theoretical Domains Framework (TDF), to explore beliefs and to identify facilitators and barriers to guidance uptake. Interviews were conducted with a convenience sample of 15 clinicians working with children with AMC and four pediatric clinical managers using Microsoft Teams©. Interviews were then transcribed verbatim and analyzed by four independent reviewers using deductive and inductive coding. Results: The TDF domains of Environmental Context and Resources, Behavioural Regulation, Reinforcement, Beliefs about Consequences, and Social Influences were shared amongst clinicians and clinical managers across North America and Europe as being relevant and influential on the target behaviour of using rehabilitation expert guidance to manage pediatric patients. Among clinicians only, the domain Memory, Attention, and Decision-Making Processes was also found relevant. Among managers only, the domain Social/Professional Role and Identity was found relevant. Conclusions: Coupling shared relevant domains amongst clinicians and managers with individual supports and barriers helps to map out what is needed to promote the uptake of rehabilitation guidance at multiple levels. IMPLICATIONS FOR REHABILITATION: The uptake of expert guidance is helpful for rehabilitation professionals to align best practice with expert opinion based on clinicians and lived experience for a condition as rare as arthrogryposis multiplex congenita (AMC). In order to facilitate the uptake of guidance, rehabilitation professionals and clinical managers need to collaborate during the development and uptake in practice. Rehabilitation professionals require support for the uptake of guidance, such as training, regular team encounters, and a knowledge broker. Rehabilitation professionals and clinical managers should be aware of identified facilitators and barriers to the uptake of guidance, such as time, clinical resources, and accessibility. [ABSTRACT FROM AUTHOR]

The construction of buildings is risky for workers’ musculoskeleton. This study aims to calculate the significance of risk associated with work-related musculoskeletal disorders. 600 workers from 20 construction sites were surveyed using the Nordic Musculoskeletal Questionnaire (modified) and their performance was assessed at seven construction-tasks using RULA and REBA sheets. SPSS v. 26 and R programming were used for statistical analysis. The mean value of workers’ age was 28.4381 years, with 8.8205 working months/year and 65USDs monthly earnings. Maximum reporting of body discomfort was by workers of window/door framing. Workers’ BMI (35–44 kg/m2) and break duration (< 15 minutes) prompted neck pain with OR 7.79 (95% CI 1.135-53.587) and OR 1.179 (95%CI 0.231–6.014) respectively. Bagging was dangerous for the ankle with OR 9.881 (95% CI 5.140–18.994), and window/door framing for feet with OR 2.057 (95% CI 1.196–3.539). The mean value of the RULA grand score ranged from 5.89 (lowest for ‘leveling’) to 9.25 (highest for ‘demolishing’), and the REBA sheet between 8–11 for all seven studied work-stages. Workers’ upper and lower limbs are affected by the work-stages they perform and the social lifestyle they live in. These findings from 600 workers are sufficient to be generalized for intervention. [ABSTRACT FROM AUTHOR]

Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de novo heterozygous BICD2 missense variants in two fetuses with severe, prenatally diagnosed multiple arthrogryposis congenita. This report provides further insights into the genetics of this rare disease. [ABSTRACT FROM AUTHOR]

SCY1‐like protein 2 (SCYL2) is a member of the SCY1‐like pseudokinase family which regulates secretory protein trafficking. It plays a crucial role in the nervous system by suppressing excitotoxicity in the developing brain. Scyl2 knockout mice have excess prenatal mortality and survivors show severe neurological dysfunction. Bi‐allelic loss‐of‐function (LOF) variants in SCYL2 were recently associated with arthrogryposis multiplex congenita‐4 (AMC4) following the report of 6 individuals from two consanguineous unrelated families. The AMC4 phenotype described included severe arthrogryposis, corpus callosum agenesis, epilepsy and frequently, early death. We describe here two additional similarly affected individuals with AMC4, including one diagnosed in the prenatal period, with bi‐allelic LOF variants in SCYL2, and two individuals homozygous for missense variants in the protein kinase domain of SCYL2 and presenting with developmental delay only. Our study confirms the association of SCYL2 with AMC4 and suggests a milder phenotype can occur, extending the phenotypic spectrum of autosomal recessive SCYL2‐related disorders. [ABSTRACT FROM AUTHOR]

The article describes the case of a one-day-old female born at term with arthrogryposis multiplex congenita evaluated by the Pediatric Genetics service after whole exome sequencing on amniocentesis identified a de novo pathogenic ZC4H2 variant associated with ZC4H2-related neurodevelopmental disorder with multiple congenital anomalies. Topics include pregnancy complication suffered by the infant's mother, findings on echocardiogram, and characteristics of ZC4H2-associated disorders.

Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular junction (NMJ) disorders arising from gene variants encoding diverse NMJ proteins. Recently, the VAMP1 gene, responsible for encoding the vesicle-associated membrane protein 1 (VAMP1), has been associated with CMS. This study presents a characterization of five new individuals with VAMP1-related CMS, providing insights into the phenotype. The individuals with VAMP1-related CMS exhibited early disease onset, presenting symptoms prenatally or during the neonatal period, alongside severe respiratory involvement and feeding difficulties. Generalized weakness at birth was a common feature, and none of the individuals achieved independent walking ability. Notably, all cases exhibited scoliosis. The clinical course remained stable, without typical exacerbations seen in other CMS types. The response to anticholinesterase inhibitors and salbutamol was only partial, but the addition of 3,4-diaminopyridine (3,4-DAP) led to significant and substantial improvements, suggesting therapeutic benefits of 3,4-DAP for managing VAMP1-related CMS symptoms. Noteworthy is the identification of the VAMP1 (NM_014231.5): c.340delA; p.Ile114SerfsTer72 as a founder variant in the Iberian Peninsula and Latin America. This study contributes valuable insights into VAMP1-related CMS, emphasizing their early onset, arthrogryposis, facial and generalized weakness, respiratory involvement, and feeding difficulties. Furthermore, the potential efficacy of 3,4-DAP as a useful therapeutic option warrants further exploration. The findings have implications for clinical management and genetic counseling in affected individuals. Additional research is necessary to elucidate the long-term outcomes of VAMP1-related CMS. [ABSTRACT FROM AUTHOR]

This article discusses a case of Wieacker-Wolff syndrome (WRWS), an ultra-rare X-linked disorder characterized by congenital multiplex arthrogryposis (CMA), in a female patient. WRWS is caused by pathogenic variants in the ZC4H2 gene, which is involved in nervous system development. The syndrome is associated with a wide range of symptoms, including neurological, endocrinological, and cardiac involvement. This case report highlights the multisystemic nature of the syndrome and suggests that heart assessment should be included in the follow-up of female patients. [Extracted from the article]

Key Clinical Message: This case highlights the challenges in diagnosing Bethlem myopathy, the need for a high index of suspicion, and the importance of recognizing the diverse clinical presentations of this rare condition. Enhanced understanding can aid in early diagnosis and tailored management. Bethlem myopathy (BM), a rare collagen VI‐related myopathy, is characterized by progressive muscle weakness and contractures, typically affecting the proximal muscles and joints. This case report presents a 15‐year‐old girl from Tehran, Iran, with a 5‐year history of severe limb pain and progressive weakness. Born to consanguineous parents, the patient displayed delayed walking milestones and significant hypotonia, leading to a waddling gait and lumbar hyperlordosis. Neurological examination revealed marked proximal lower limb weakness, a positive Gowers' sign, and absent myotatic reflexes. Elevated creatine phosphokinase (CPK) levels and electromyography (EMG) results indicated myopathy, while nerve conduction studies showed no neuropathy. Genetic testing revealed a novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene, classified as a variant of uncertain significance (VUS) per American College of Medical Genetics and Genomics (ACMG) guidelines due to its rarity and specific phenotype association. Differential diagnosis is essential to distinguish it from other neuromuscular conditions. Management primarily focuses on symptom relief and enhancing patients' quality of life. This case highlights the challenges in diagnosing BM, the need for a high index of suspicion, and the importance of recognizing the diverse clinical presentations of this rare condition. Enhanced understanding can aid in early diagnosis and tailored management. [ABSTRACT FROM AUTHOR]

Abstract Background The treatment results of the Ponseti method for arthrogrypotic clubfoot have been described in only a few case series. Further evaluations are necessary. Methods Children from two German paediatric orthopaedic hospitals with arthrogryposis-associated clubfoot treated with the Ponseti method between 2004 and 2011 and who were at least five years of age at their last follow-up were retrospectively evaluated. The endpoints were the clinical foot position, necessary surgeries during the follow-up period and radiological constellations. A comprehensive literature review was conducted after a systematic literature search. Results Seventeen patients (47% with amyoplasia [AP] and 53% with distal arthrogryposis [DA]) met the inclusion criteria. Thirty-one feet were evaluated. The period between the treatment start and the last follow-up examination covered 8.9 ± 2.5 years. After the last cast removal within the initial Ponseti cast series, 74% of the clinical results were good to excellent. However, the clinical outcomes in the patients with AP were significantly worse. Overall, in 23 feet (74%), at least one major surgery at the age of 2.9 ± 2.2 years was necessary during the clinical course. Major surgeries were much more frequent on the feet of the patients with AP than with DA. Lateral X-rays showed normal age-appropriate radiological angles in 4% of the feet, hindfoot equinus in 19%, under-corrected hindfoot in 44%, under-corrected clubfoot in 26% and rocker bottom deformity in 7%. The radiological residual deformities in AP were much more severe than in DA (p = 0.042). Most of the studies reviewed (11 case series, 144 patients) reported high initial clinical correction rates, followed by high recurrence rates and the need for further surgeries. Conclusion About a quarter of the arthrogrypotic patients benefited from the Ponseti therapy without further major surgery. However, the clinically observed high initial correction rate after Ponseti therapy of arthrogrypotic clubfoot was not accompanied by a correction of the bony foot position in the X-rays. The feet of the patients with DA had better outcomes than those of the patients with AP. Therefore, in outcome studies, a clear distinction between patients with AP and those with DA is necessary.

Distal arthrogryposis (DA) is a skeletal muscle disorder that is characterized by the presence of joint contractures in various parts of the body, particularly in the distal extremities. In this study, after a systematic review of the literature, we present a case report of a non-consanguineous family. In our case, the first-trimester ultrasound was negative, and the presence of the affected mother was not enough for the parents to consent to us performing invasive amniotic fluid sampling. The second-trimester ultrasound showed clear abnormalities suggestive of arthrogryposis. Whole-exome sequencing was performed and an autosomal dominantly inherited disease-associated gene was identified. In our case, a pathogenic variant in the TNNT3 gene c.188G>A, p.Arg63His variant was identified. The mother, who had bilateral clubfoot and hand involvement in childhood, carried the same variant. The TNNT3 gene is associated with distal arthrogryposis type 2B2, which is characterized by congenital contractures of the distal limb joints and facial dysmorphism. In the ultrasound, prominent clubfoot was identified, and the mother, who also carried the same mutation, had undergone surgeries to correct the clubfoot, but facial dysmorphism was not detected. Our study highlights the importance of proper genetic counseling, especially in an affected parent(s), and close follow-up during pregnancy. [ABSTRACT FROM AUTHOR]

Background: Arthrogryposis multiplex congenita (AMC) is a group of rare musculoskeletal conditions that is associated with complex healthcare needs and long-term follow up. The literature reports significant direct, indirect, and psychosocial costs for caregivers of children with neuromuscular conditions. Due to mobility limitations and frequent hospital visits, caring for a child with AMC is complex. Other challenges experienced by caregivers include financial strain, job changes, changes in interpersonal relationships and abandonment. This study was aimed at exploring the lived experience of caregivers of children with AMC. Methods: The present study is part of a larger global mixed methods study. In the initial quantitative aspect of the study, caregivers (n = 158) of children and youths with AMC (aged 0–21 years) responded to a cost of care survey on an electronic platform. Of the 158 participants, 13 caregivers then further consented to participate in the qualitative aspect of the study in which a 60-min semi-structured, individual interview was conducted remotely. Open-ended questions were developed to gain a deeper understanding of the direct and indirect costs of care, their impact on the caregivers' lives and the quality of the care-giving experience. Interviews were transcribed, and a coding scheme was developed drawing from both the existing literature and the content of the interviews. A deductive and inductive thematic analysis was used to analyze the qualitative data using the NVivo® qualitative data analysis software. Results and conclusion: Five themes describing the experiences of caregivers of children with AMC emerged from the analysis of the qualitative data: 1. Impact of the caregiving experience; 2. Cost of childcare; 3. Support system for care; 4. Managing and navigating care; 5. Supporting the child's growth and development. In addition to the results of the thematic analysis, specific recommendations shared by the caregivers included the need for support groups and provision of support to youths to prepare them for adolescence. These findings will inform resource allocation, policymaking, and support services for children with rare conditions, their caregivers and families. [ABSTRACT FROM AUTHOR]

Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence. We hereby present a series of 26 fetuses displaying severe MCC phenotypes from 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, and genetic investigations. Most common prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios (50%), increased nuchal translucency (50%), and fetal hydrops (35%). Postmortem examinations unveiled additional anomalies including facial dysmorphisms, dysplastic skeletal changes, ichthyosis, multiple pterygia, and myopathy, allowing preliminary diagnosis of particular Mendelian disorders in multiple patients. Evaluation of the parents revealed maternal grip myotonia in one family. By exome sequencing and targeted testing, we identified causative variants in ACTC1, CHST14, COG6, DMPK, DOK7, HSPG2, KLHL7, KLHL40, KIAA1109, NEB, PSAT1, RAPSN, USP14, and WASHC5 in 15 families, and one patient with a plausible diagnosis associated with biallelic NEB variants. Three patients received a dual diagnosis. Pathogenic alterations in newly discovered genes or in previously known genes recently linked to new MCC phenotypes were observed in 44% of the cohort. Our results provide new insights into the clinical and molecular landscape of lethal MCC phenotypes. [ABSTRACT FROM AUTHOR]

Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia. Brain magnetic resonance imaging at 20 months of age showed left focal cerebellar hypoplasia. Genetic analysis revealed a homozygous missense variant of c.202C > T (p.Arg68Ter) in the VAMP1 gene. Treatment with oral pyridostigmine was started, which resulted in mild improvement in muscle strength. Salbutamol syrup was added a few months later, but no significant improvement was observed. This case report presents novel findings such as focal cerebellar hypoplasia and nephrolithiasis in VAMP1 -related CMS-25. Consequently, this case report extends the clinical spectrum. Further studies are needed to expand the genotype–phenotype correlations in VAMP1 -related CMS-25. [ABSTRACT FROM AUTHOR]

Pathogenic variants in the FKBP10 gene lead to a spectrum of rare autosomal recessive phenotypes, including osteogenesis imperfecta (OI) Type XI, Bruck syndrome Type I (BS I), and the congenital arthrogryposis-like phenotype (AG), each with variable clinical manifestations that are crucial for diagnosis. This study analyzed the clinical-genetic characteristics of patients with these conditions, focusing on both known and newly identified FKBP10 variants. We examined data from 15 patients, presenting symptoms of OI and joint contractures. Diagnostic methods included genealogical analysis, clinical assessments, radiography, whole exome sequencing, and direct automated Sanger sequencing. We diagnosed 15 patients with phenotypes due to biallelic FKBP10 variants—4 with OI Type XI, 10 with BS I, and 1 with the AG-like phenotype—demonstrating polymorphism in disease severity. Ten pathogenic FKBP10 variants were identified, including three novel ones, c.1373C>T (p.Pro458Leu), c.21del (p.Pro7fs), and c.831_832insCG (p.Gly278Argfs), and a recurrent variant, c.831dup (p.Gly278Argfs). Variant c.1490G>A (p.Trp497Ter) was found in two unrelated patients, causing OI XI in one and BS I in the other. Additionally, two unrelated patients with BS I and epidermolysis bullosa shared identical homozygous FKBP10 and KRT14 variants. This observation illustrates the diversity of FKBP10-related pathology and the importance of considering the full spectrum of phenotypes in clinical diagnostics. [ABSTRACT FROM AUTHOR]

The article discusses the distinct clinical characteristics and genetic underpinnings of Distal Arthrogryposis Type 1 (DA1), emphasizing its similarity to but lack of craniofacial features seen in other related syndromes. It also explores the challenges in surgical management, particularly in correcting contractures of the ankle-foot complex and hands, and highlights the variability in anaesthetic considerations, advocating for tailored approaches based on patient needs and safety profiles.

In November 2021, an investigation was conducted into an outbreak of abortion, stillbirth, and the birth of calves with congenital abnormalities (arthrogryposis and hydranencephaly) at a dairy farm in Dasht-e-Mughan city, Ardabil province. A total of 70 cows experienced these issues. To determine the cause of the outbreak, post-mortem brain tissue samples were collected from two calves affected by hydranencephaly, which occurred shortly after their birth. Polymerase chain reaction (PCR) testing was conducted for multiple viruses, including bovine viral diarrhea (BVD), border disease, Akabane, Schmallenberg, and bluetongue viruses (BTVs). The samples were positive only for Akabane virus. Serum samples were collected from a group of 60 cattle, consisting of 45 adult cows and 15 younger calves aged between 8 to 10 months. These samples were analyzed to detect the presence of antibodies against the Akabane and Schmallenberg viruses. Both of these viruses are known to be responsible for causing abortion, stillbirth, and congenital abnormalities in calves. Among 45 cows that tested by competitive enzyme-linked immunosorbent assay (cELISA), 26.66% and 33.33% exhibited antibodies against Akabane and Schmallenberg viruses, respectively. Notably, 20.00% of cows co-exhibited antibodies for both viruses. Despite PCR evidence implicating Akabane virus as the principal etiology of clinical signs observed in the affected herd, the high coseropositivity to Schmallenberg virus, warrants a thorough investigation into potential viral interactions. Further research is required to determine the source of the virus and their transmission routes. This information could facilitate the refinement of disease control strategies and improving the management of reproductive challenges in such affected herds. [ABSTRACT FROM AUTHOR]

Joint contracture is one of the common diseases clinically, and joint capsule fibrosis is considered to be one of the most important pathological changes of joint contracture. However, the underlying mechanism of joint capsule fibrosis is still controversial. The present study aims to establish an animal model of knee extending joint contracture in rats, and to investigate the role of hypoxia-mediated pyroptosis in the progression of joint contracture using this animal model. 36 male SD rats were selected, 6 of which were not immobilized and were used as control group, while 30 rats were divided into I-1 group (immobilized for 1 week following 7 weeks of free movement), I-2 group (immobilized for 2 weeks following 6 weeks of free movement), I-4 group (immobilized for 4 weeks following 4 weeks of free movement), I-6 group (immobilized for 6 weeks following 2 weeks of free movement) and I-8 group (immobilized for 8 weeks) according to different immobilizing time. The progression of joint contracture was assessed by the measurement of knee joint range of motion, collagen deposition in joint capsule was examined with Masson staining, protein expression levels of HIF-1α, NLRP3, Caspase-1, GSDMD-N, TGF-β1, α-SMA and p-Smad3 in joint capsule were assessed using western blotting, and the morphological changes of fibroblasts were observed by transmission electron microscopy. The degree of total and arthrogenic contracture progressed from the first week and lasted until the first eight weeks after immobilization. The degree of total and arthrogenic contracture progressed rapidly in the first four weeks after immobilization and then progressed slowly. Masson staining indicated that collagen deposition in joint capsule gradually increased in the first 8 weeks following immobilization. Western blotting analysis showed that the protein levels of HIF-1α continued to increase during the first 8 weeks of immobilization, and the protein levels of pyroptosis-related proteins NLRP3, Caspase-1, GSDMD-N continued to increase in the first 4 weeks after immobilization and then decreased. The protein levels of fibrosis-related proteins TGF-β1, p-Smad3 and α-SMA continued to increase in the first 8 weeks after immobilization. Transmission electron microscopy showed that 4 weeks of immobilization induced cell membrane rupture and cell contents overflow, which further indicated the activation of pyroptosis. Knee extending joint contracture animal model can be established by external immobilization orthosis in rats, and the activation of hypoxia-mediated pyroptosis may play a stimulating role in the process of joint capsule fibrosis and joint contracture. [ABSTRACT FROM AUTHOR]

Background and Aim: Advances in molecular genetics have uncovered causative genes responsible for neonatal cholestasis. Panel‐based next‐generation sequencing has been used clinically in infants with neonatal cholestasis. We aimed to evaluate the clinical application of single‐gene testing and next‐generation sequencing and to develop a diagnostic algorithm for neonatal intrahepatic cholestasis. Methods: From January 2010 to July 2021, patients suspected of having neonatal intrahepatic cholestasis were tested at the Seoul National University Hospital. If there was a clinically suspected disease, single‐gene testing was performed. Alternatively, if it was clinically difficult to differentiate, a neonatal cholestasis gene panel test containing 34 genes was performed. Results: Of the total 148 patients examined, 49 (33.1%) were received a confirmed genetic diagnosis, including 14 with Alagille syndrome, 14 with neonatal intrahepatic cholestasis caused by citrin deficiency, 7 with Dubin–Johnson syndrome, 5 with arthrogryposis‐renal dysfunction‐cholestasis syndrome, 5 with progressive familial intrahepatic cholestasis type II, 1 with Rotor syndrome, 1 with Niemann‐Pick disease type C, 1 with Kabuki syndrome, and 1 with Phenylalanyl‐tRNA synthetase subunit alpha mutation. Sixteen novel pathogenic or likely pathogenic variants of neonatal cholestasis were observed in this study. Based on the clinical characteristics and laboratory findings, we developed a diagnostic algorithm for neonatal intrahepatic cholestasis by integrating single‐gene testing and next‐generation sequencing. Conclusions: Alagille syndrome and neonatal intrahepatic cholestasis caused by citrin deficiency were the most common diseases associated with genetic neonatal cholestasis. Single‐gene testing and next‐generation sequencing are important and complementary tools for the diagnosis of genetic neonatal cholestasis. [ABSTRACT FROM AUTHOR]

This document contains several poster presentations on various topics related to disability and healthcare. The presentations cover strategies used by young people, both with and without physical disabilities, to promote their participation in meaningful activities, caregiver strategies to support community participation among children and youth with disabilities, the accessibility of childcare services in Canada for children with disabilities, the physical and psychosocial impact of Frame Running on individuals with mobility limitations, the health-related quality of life in children with arthrogryposis, a study protocol for developing a causal diagram for cerebral palsy, discharge readiness and its impact on post-discharge coping difficulty and resource utilization in children with cerebral palsy, and the conceptualization of burnout from the perspective of parents of children with complex care needs. The study on burnout among parents of children with complex care needs found that it is characterized by long-term and recurring stress, a deterioration in physical and cognitive health, and a constant state of heightened alertness and control. The findings can help raise awareness about burnout in this population. [Extracted from the article]

Children with arthrogryposis multiplex congenita (AMC) often demonstrate growth differences compared with typically developing (TD) children. However, growth charts have not been developed for this population. The purpose of this study was to create AMC-specific growth charts and to compare these values to those of TD children. A retrospective review of height/length and weight for 206 children with AMC was performed. Growth charts were developed and stratified over seven percentiles; these were then compared with growth charts of TD children. Children with AMC tend to be smaller in stature and weight compared with TD children, particularly in the first 36 months of life. Thereafter, weight values trend toward the 50th percentile of TD children, but height/length values persist around the 5th percentile of TD children. The development of AMC-specific growth charts provides health care providers an objective tool to evaluate growth patterns of patients with AMC. [ABSTRACT FROM AUTHOR]