UNASSIGNED: The incidence of hip dislocation (HD) in arthrogryposis multiplex congenital ranges from 15 to 30 %. Besides a stable hip, the ambulation potential of an AMC child is also dependent on severity of associated knee and foot deformations. The primary objective of this review is to determine the proportion of ambulators in AMC children treated by open reduction for HD.
UNASSIGNED: We searched major electronic bibliographic databases for reports on the treatment of HD among AMC children. Based on the surgical approach for open reduction of HD in AMC children, we divided the included studies into groups 1 (Anterior approach open reduction) and 2 (Medial approach open reduction).
UNASSIGNED: We pooled 59 children/94 hips in this review from 7 studies. We identified 45 children/71 hips and 14 children/23 hips with a mean age of 20 (4-64) and 4.5 (0.5-11) months in groups 1 and 2, respectively. There were 97 % (44) and 92 %(Obeidat et al., 2011) 13 ambulators in groups 1 and 2, respectively. 47 % and 36 % of hips in groups 1 and 2 required additional procedures besides open reduction for redislocation and maintenance of hip reduction. 31 %22 and 13 %(Fisher et al., 1970 Feb) 3 of the hips sustained avascular necrosis in group 1 and 2.
UNASSIGNED: Children with AMC associated HD can be expected to ambulate with and without assistance in 90 % of the cases however, the foot and knee problems also need concomitant management. In children less than 6 months of age the medial approach based open reduction may be more efficacious and less complicating than anterior approach based open reduction however, at a later age anterior approach based open reduction is more effective due to need for pelvic and femur sided additional procedures.

BACKGROUND: The SLC29A3 gene, which encodes a nucleoside transporter protein, is primarily located in intracellular membranes. The mutations in this gene can give rise to various clinical manifestations, including H syndrome, dysosteosclerosis, Faisalabad histiocytosis, and pigmented hypertrichosis with insulin-dependent diabetes. The aim of this study is to present two Iranian patients with H syndrome and to describe a novel start-loss mutation in SLC29A3 gene.
METHODS: In this study, we employed whole-exome sequencing (WES) as a method to identify genetic variations that contribute to the development of H syndrome in a 16-year-old girl and her 8-year-old brother. These siblings were part of an Iranian family with consanguineous parents. To confirmed the pathogenicity of the identified variant, we utilized in-silico tools and cross-referenced various databases to confirm its novelty. Additionally, we conducted a co-segregation study and verified the presence of the variant in the parents of the affected patients through Sanger sequencing.
RESULTS: In our study, we identified a novel start-loss mutation (c.2T > A, p.Met1Lys) in the SLC29A3 gene, which was found in both of two patients. Co-segregation analysis using Sanger sequencing confirmed that this variant was inherited from the parents. To evaluate the potential pathogenicity and novelty of this mutation, we consulted various databases. Additionally, we employed bioinformatics tools to predict the three-dimensional structure of the mutant SLC29A3 protein. These analyses were conducted with the aim of providing valuable insights into the functional implications of the identified mutation on the structure and function of the SLC29A3 protein.
CONCLUSIONS: Our study contributes to the expanding body of evidence supporting the association between mutations in the SLC29A3 gene and H syndrome. The molecular analysis of diseases related to SLC29A3 is crucial in understanding the range of variability and raising awareness of H syndrome, with the ultimate goal of facilitating early diagnosis and appropriate treatment. The discovery of this novel biallelic variant in the probands further underscores the significance of utilizing genetic testing approaches, such as WES, as dependable diagnostic tools for individuals with this particular condition.

BACKGROUND: severe, rigid hip abduction deformity in individuals with cerebral palsy (CP) is an exceptionally uncommon condition. This posture hinders the positioning in the wheelchair and the completion of basic activities of daily living (ADL). Addressing such severe deformities can be quite challenging.
METHODS: a 14-year-old male, with spastic-dystonic quadriplegic CP, developed rigid and severe flexion-abduction contractures in both hips, characterized by 90 degrees of flexion and 100 degrees of abduction. These contractures severely impeded his ability to comfortably use a wheelchair and even pass through doorways. Performing basic ADLs became a significant challenge for both the patient and his caregivers.
RESULTS: the treatment approach involved a two-stage surgical procedure, one for each hip, with a two-month interval between them. An extensive release of the fascia latae, gluteus maximus, external rotators, and hip flexors; in combination with a proximal femur osteotomy were performed. To maintain the corrections achieved, long-leg casts connected with two bars were employed, followed by orthotic support and physiotherapy. Following the procedure, lower limb adduction was achieved, and the patient and caregivers were highly satisfied, as ADLs and basic caregiving had been greatly facilitated.
CONCLUSIONS: while the available literature on the management of severe rigid abduction hip contractures in non-ambulatory CP patients is limited, and treatment options are often complex, the present case underscores the effectiveness of a comprehensive approach involving soft tissue release and bone surgery. Achieving a more favorable wheelchair positioning and facilitating basic ADLs and care represents a significant success for patients and families.
UNASSIGNED: la deformidad severa y rígida en abducción de cadera en individuos con parálisis cerebral (PC) es una condición infrecuente. Esta postura dificulta el posicionamiento en la silla de ruedas y la realización de actividades básicas de la vida diaria (AVD). El tratamiento de estas deformidades tan severas puede ser todo un reto.
UNASSIGNED: varón de 14 años, con PC tetrapléjica espástica-distónica, que desarrolló contracturas rígidas y severas de flexión-abducción en ambas caderas, caracterizadas por 90 grados de flexión y 100 grados de abducción. Estas contracturas impedían gravemente su capacidad para utilizar cómodamente una silla de ruedas e incluso pasar por las puertas. La realización de actividades básicas de la vida diaria se convirtió en un reto importante tanto para el paciente como para sus cuidadores.
RESULTS: el tratamiento consistió en una intervención quirúrgica en dos fases, una para cada cadera, con un intervalo de dos meses entre ellas. Se realizó una amplia liberación de la fascia lata, el glúteo mayor, los rotadores externos y los flexores de la cadera; en combinación con una osteotomía proximal del fémur. Para mantener las correcciones conseguidas, se emplearon escayolas de pierna larga conectadas con dos barras, seguidas de soporte ortésico y fisioterapia. Tras la intervención, se consiguió la aducción de los miembros inferiores y el paciente y los cuidadores se mostraron muy satisfechos, ya que se habían facilitado en gran medida las AVD y los cuidados básicos.
CONCLUSIONS: aunque la bibliografía disponible sobre el tratamiento de las contracturas rígidas graves de la cadera en abducción en pacientes no deambulantes con PC es limitada, y las opciones de tratamiento suelen ser complejas, el presente caso subraya la eficacia de un enfoque integral que incluye la liberación de los tejidos blandos y la cirugía ósea. Conseguir una posición más favorable en la silla de ruedas y facilitar las AVD básicas y los cuidados representa un éxito significativo para los pacientes y sus familias.

UNASSIGNED: Cerebral palsy (CP) is the most common motor disability in children. The initial lesion to the developing brain may result in a myriad of neuromuscular comorbidities, including mobility deficiencies. The neuromuscular contributions to disability and rehabilitative frameworks specific to children with CP have been investigated separately. However, few reviews have examined the relationship between neuromuscular pathophysiology and rehabilitative frameworks among children with CP. Therefore, the purpose of this review was to investigate the impact of dynamic stretching orthoses and therapeutic exercise on range of motion (ROM), aerobic capacity, and mobility in relation to the neuromuscular contributions to disability in children with CP.
UNASSIGNED: Reviews of PubMed, Google Scholar, and Web of Science were conducted to identify literature focusing on the neuromuscular pathophysiology contributing to disability in children with CP and rehabilitative frameworks associated with this population. The search used a combination of keywords and subject headings to include \'cerebral palsy\', \'musculoskeletal\', \'neuromuscular\', \'spasticity\', \'rehabilitation\', \'exercise\', \'aerobic\', and \'orthosis\'. Selected manuscripts featured original cross-sectional and longitudinal research and meta-analyses.
UNASSIGNED: A total of 303 manuscripts were initially identified through search terms, with 182 articles excluded based on title and abstract evaluation, leaving 121 manuscripts for full-text analysis. Seven studies meeting the narrative review criteria were included. Evidence supporting the efficacy of dynamic stretching orthoses for improving lower extremity ROM is inconclusive. Aerobic and progressive resistive training may be beneficial for improving aerobic capacity and muscle strength in children with CP, which may result in enhanced mobility.
UNASSIGNED: Depending on the individual\'s clinical presentation, ROM and therapeutic exercise may be implemented to optimize function. Incorporating progressive resistive and aerobic exercises into a rehabilitation plan may improve mobility and aerobic capacity. As such, clinicians should consider resistance and aerobic exercise prescription as part of a long-term treatment plan for children with CP.

Because the head and neck are one of the most frequent locations of burns, it is of paramount importance that plastic surgeons and plastic surgical nurses understand the most effective surgical methods for treating neck contractures and the reconstructive technique required for each case. We introduce the case of a 42-year-old woman who presented with a severe postburn neck contracture that was reconstructed with a pedicled occipito-cervico-dorsal flap. We closed the donor-site wound primarily and completely covered the defect with good results. In addition to conventional skin grafts, dermal matrices, and microsurgical techniques, using an occipito-cervico-dorsal flap should be considered for reconstructing postburn neck contractures as it offers good aesthetic and functional outcomes, provides enough tissue and pliable skin, and results in minimal donor-site morbidity.

During the 1970s, scientists first used botulinum toxin to treat strabismus. While testing on monkeys, they noticed that the toxin could also reduce wrinkles in the glabella area. This led to its widespread use in both medical and cosmetic fields. The objective of the study was to evaluate the potential use of Botox in managing post-operative contracture after below-knee amputation. We conducted a systematic review In Pubmed, Cochrane Library, Embase, and Google Scholar using the MESH terms Botox, botulinum toxin, post-operative contracture, amputation, and below knee amputation. Our goal was to evaluate the potential use of Botox to manage post-operative contracture in patients who have undergone below-knee amputation. Our findings show evidence in the literature that Botox can effectively manage stump hyperhidrosis, phantom pain, and jumping stump, but no clinical trial has been found that discusses the use of Botox for post-operative contracture. Botox has been used in different ways to manage spasticity. Further studies and clinical trials are needed to support the use of Botox to manage this complication.

OBJECTIVE: This study aimed to perform a systematic review and meta-analysis to compare the clinical outcomes of open surgery and arthroscopic release in gluteal muscle contracture (GMC).
METHODS: Two independent reviewers YM and WL conducted a systematic search of PubMed, Embase, Cochrane Library, and Web of Science to identify clinical trials that adhered to the PRISMA guidelines (Appendix A), spanning from inception to July 2023. Search items included ((\"gluteal\" OR \"gluteus\") AND (\"contracture\" OR \"fibrosis\")). Research comparing open surgery or arthroscopic release was included. Clinical outcomes were compared using the risk ratio for dichotomous variables and the standardized mean difference for continuous variables. A P value < 0.05 was deemed statistically significant.
RESULTS: Four studies with 453 patients met the selection criteria and were included in this review. Compared with open surgery, in the case of similar postoperative functional satisfaction (1.21, 95% CI = 0.46-3.17, P = 0.70), the arthroscopic release achieved advantages in postoperative complications (3.5, 95% CI = 1.75-7.03, P = 0.0004), cosmetic satisfaction (0.07, 95% CI = 0.01-0.65, P = 0.02), length size (5.65, 95% CI = 4.11-7.19, P < 0.001), and hospitalization duration (1.57, 95% CI = 0.89 to 2.26, P < 0.001).
CONCLUSIONS: This research shows that both open surgery and arthroscopic release improve functional satisfaction. The arthroscopic release could result in fewer complications, better cosmetic satisfaction, shorter length size, and shorter hospitalization duration. Registration and protocol There is no registration and protocol for this meta-analysis.

Contractures are a frequent consequence of burn injuries, yet our knowledge of associated risk factors is limited. This paper provides an extensive review of relevant literature from both High-Income Countries (HICs) and Low-Middle Income Countries (LMICs). Ninety-four papers (up to June 2019) and eight subsequent publications (up to March 2022) were included, 76% of which were from HICs. The majority of publications were either descriptive studies (4 from HICs, 9 from LMICs) or papers citing putative risk factors (37 from HICs, 10 from LMICs). Seventeen publications (all from HICs) reported on the effects of individual non-surgical therapeutic interventions, often with conflicting results. Two published systematic reviews emphasised the poor quality of evidence available. Only fifteen studies (3 from LMICs) examined potential contracture risk factors with statistical comparisons of outcomes; significant findings from these included demographic, burn, comorbidities, and treatment risk factors. LMIC papers included socioeconomic and healthcare system factors as potential risks for contracture; these were rarely considered in HIC publications. Methodological issues identified from this review of literature included differences in contracture definitions, populations studied, standards of care, joints included and the timing and nature of contracture assessments.This review is the first to collate existing knowledge on risk factors for burn contractures from both HIC and LMIC settings, revealing a surprising lack of robust evidence for many accepted risk factors. In LMICs, where burns are particularly common, universal health provision is lacking and specialist burn care is both scarce and difficult to access; consequently, socioeconomic factors may have more immediate impact on contracture outcomes than specific burn treatments or therapies. Much more work is indicated to fully understand the relative impacts of risk factors in different settings so that context-appropriate contracture prevention strategies can be developed.

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BACKGROUND: Severe idiopathic arthrofibrosis after total knee arthroplasty (TKA) is a challenging problem to treat. Low-dose irradiation may decrease fibro-osseous proliferation, while rotating-hinge (RH) revision allows for distal femur shortening and collateral ligament sacrifice. This study reports the clinical outcomes and implant survivorship in patients treated with low-dose irradiation and RH revision for severe idiopathic arthrofibrosis following TKA.
METHODS: A retrospective review was performed on 60 consecutive patients. Patients who had greater than 80° arc of knee motion or less than 15° flexion contracture were excluded. Mean follow-up was 6 years (range, 2 to 14). Kaplan-Meier survivorship analyses were performed, and logistic regressions were used to determine associations between preoperative patient characteristics and clinical outcomes.
RESULTS: Median flexion contracture and median terminal flexion at presentation were 20 and 70°, respectively; at final follow-up, 59 of 60 patients (98%) had ≤10° flexion contracture and 49 of 60 patients (82%) had ≥90° of flexion. The 10-year survivorship free from reoperation for any reason, revision for any reason, and revision for aseptic loosening were 63, 87, and 97%, respectively. There were 27% percent of patients who underwent a manipulation under anesthesia postoperatively, which was the most common reason for return to the operating room. A greater number of prior surgeries was significantly associated with worse range of motion at the final follow-up (P = .004). There were no known radiation-associated complications.
CONCLUSIONS: Patients with severe idiopathic arthrofibrosis following TKA treated with low-dose irradiation and RH revision maintained a gain in knee range of motion of 60° with reliable flexion contracture correction at a mean 6-year follow-up. A manipulation under anesthesia was common in the postoperative period. Survivorship free from revision for aseptic loosening was excellent at 10 years.