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Experimental and Therapeutic Medicine Jul 2024The Ilizarov technology was proposed by Former Soviet orthopedic physician Ilizarov. It is a medical method to reconstruct missing tissues. Ilizarov technology combined...
The Ilizarov technology was proposed by Former Soviet orthopedic physician Ilizarov. It is a medical method to reconstruct missing tissues. Ilizarov technology combined with soft tissue stretching technology is of great significance in the treatment of common orthopedic problems like bone defects, finger absence, joint contracture and joint stiffness following thermal-crush injuries of the hand. In the present study a 25-year-old male patient sought for limb salvage treatment 1 month after sustaining thermal-crush injuries of the right hand and forearm. The patient had been treated by another hospital with multiple procedures of debridement, and recommended for forearm amputation. The patient was diagnosed with: i) Postoperative infection of thermal-crush injuries of the right hand and right forearm; ii) comminuted open fractures of the proximal and distal phalanges of the right thumb; iii) osteomyelitis; iv) palm skin defects with exposed tendons; and v) skin defects of the opisthenar and the forearm. After a series of treatments including debridement, removal of necrotic tissue, tissue transplantation, skin pedicle, bone lengthening, external shaping, tissue release, joint fusion, traction and rehabilitation exercises, the patient recovered some hand function. Overall, thermal-crush injuries of the hand are severe, complicated combined injuries composed of both heat burn and compression injury and their treatment is challenging. Overall, microsurgery combined with Ilizarov technology can effectively reconstruct the function of complex thermal-crush injuries of the hand.
PubMed: 38827471
DOI: 10.3892/etm.2024.12580 -
Cureus May 2024A rare autosomal recessive condition called infantile systemic hyalinosis (ISH) is characterized by early-onset skin lesions that progress to the formation of numerous...
A rare autosomal recessive condition called infantile systemic hyalinosis (ISH) is characterized by early-onset skin lesions that progress to the formation of numerous contractures. The underlying disease is the progressive accumulation of hyaline substances in many tissues. We are presenting the case of a male infant who was referred for evaluation and management at the age of six months. The infant had a history of recurrent episodes of diarrhea and showed limited movement in all four limbs. Upon physical examination, hyperpigmented papulonodular lesions on bony prominences and perianal regions were found, coupled with contractures in the elbow and knee joints. Hyaline deposition in the mid-dermal region was confirmed by histopathological analysis of a skin biopsy sample. The baby also had acute otitis media, which needed to be treated with antibiotics. Parents were counseled regarding the disease's diagnosis, complications, prognosis, and inheritance pattern. This case highlights the clinical presentation, diagnostic process, and management strategies employed in the care of ISH, emphasizing the importance of early recognition and multidisciplinary management in mitigating its devastating effects.
PubMed: 38826988
DOI: 10.7759/cureus.59510 -
The Turkish Journal of Pediatrics May 2024Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous...
BACKGROUND
Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy. The severity of the disease varies and prognosis is poor. No specific treatment is yet available. Most patients with the severe form of the condition pass away before the second year of age. In this study, we describe the clinical and molecular findings of a cohort of seven hyaline fibromatosis syndrome patients who were diagnosed and followed up at a single tertiary reference center in Turkey.
METHODS
Genomic DNA was extracted by standard salting out method from peripheric blood samples of three patients. In one patient DNA extraction was performed on pathology slides since peripheric blood DNA was not available. All coding exons of the ANTXR2 were amplified and sequenced on ABI Prism 3500 Genetic Analyser.
RESULTS
Sanger sequencing was performed in 3 patients and homozygous c.945T>G p.(Cys315Trp), c.1073dup p.(Ala359CysfsTer13), and c.1074del p.(Ala359HisfsTer50) variants were identified in ANTXR2. All patients passed away before the age of five years.
CONCLUSIONS
HFS is a rare, progressive disorder with a broad phenotypic spectrum. HFS can be recognized easily with distinctive clinical features. Nevertheless, it has poor prognosis with increased mortality due to severe clinical decompensation.
Topics: Humans; Hyaline Fibromatosis Syndrome; Male; Female; Infant; Child, Preschool; Receptors, Peptide; Turkey; Child
PubMed: 38814306
DOI: 10.24953/turkjpediatr.2024.4511 -
Indian Journal of Orthopaedics Jun 2024Optimal management and surgical planning of severe bony deformities and muscle tendon unit contractures demands comprehensive evaluation of all structures including the...
BACKGROUND
Optimal management and surgical planning of severe bony deformities and muscle tendon unit contractures demands comprehensive evaluation of all structures including the dynamic muscle tendon length of all muscles around the joint during gait.
OBJECTIVES
Present study aimed to explore dynamic muscle-tendon length for all muscles around the knee joint along with pelvis, hip, and ankle joint kinematics among adolescent children with varying crouch angle.
METHODS
Muscle-tendon length of 29 adolescent children with cerebral palsy with varying crouch angles was computed using a full-body musculo-skeletal model and expressed as a percentage of muscle-tendon length during walking compared to resting condition.
RESULTS
Children with knee flexion angle greater than 25° demonstrated lower anterior pelvic tilt and 11% greater muscle-tendon length of semimembranosus and biceps femoris during stance phase of gait compared to children with knee flexion angle less than 25° and typically developing children ( < 0.01).
CONCLUSIONS
The findings of present study reported that routine bedside clinical evaluation in adolescent children with knee flexion angle greater than 25° revealed moderate shortening of hamstring muscle in supine position. Whereas instrumented objective evaluation of gait demonstrated lengthened hamstring muscle and reduced hip extension and relatively lower anterior pelvic tilt. Therefore, it may be valuable to add objective assessment of dynamic muscle-tendon length to kinematics of all lower-extremity joint motion during gait, in order to understand the muscle-joint interactions; particularly in children with severe crouch and plan specific, tailor-made surgical and non-surgical interventions.
PubMed: 38812859
DOI: 10.1007/s43465-024-01165-9 -
Journal of Shoulder and Elbow Surgery May 2024Glenohumeral posterior external rotation contractures and scapular winging are frequently overlooked problems in residual neonatal brachial plexus injury (NBPI). Recent...
BACKGROUND
Glenohumeral posterior external rotation contractures and scapular winging are frequently overlooked problems in residual neonatal brachial plexus injury (NBPI). Recent attention has emphasized their impact on vital functions such as feeding and hygiene. This study aims to present the epidemiology of posterior glenohumeral (GH) contractures in a significant pediatric NBPI population and explore contributing factors.
METHODS
We conducted a retrospective analysis of data collected from January 2019 to November 2022, involving a case series of 262 children with residual NBPI. The data included demographics, palsy level, prior surgical history, and the modified Mallet scale. Glenohumeral passive internal rotation in abduction (IRABD) and cross-body adduction (CBADD) angles were measured bilaterally. Subjects were categorized into 'Belly-' (Mallet Hand-to-Belly <3) and 'Belly+' (Mallet Hand-to-Belly ≥3) groups.
RESULTS
Median participant age was 7.9 years (range: 3.5 - 21 years). Extension injury patterns included Erb's palsy (56.5%), extended Erb's palsy (28.6%), and global palsy (14.9%). Contractures exceeding 10, 20, and 30 degrees were prevalent in both IRABD and CBADD angles. The 'Belly-' group (9.5%) demonstrated a significant reduction in both angles compared to the 'Belly+' group. Weak correlations were found between IRABD (r=0.390, p<0.0001) or CBADD (r=0.163, p=0.0083) angles and Mallet hand-to-abdomen item. Glenohumeral reduction and Hoffer procedures led to a notable decrease in CBADD angle, without affecting 'Belly-' prevalence. Global injuries exhibited decreased angles compared to Erb's group.
CONCLUSIONS
External rotation glenohumeral contractures are prevalent in residual NBPI, impacting midline access. Surprisingly, history of glenohumeral procedures or extensive injuries did not increase the likelihood of losing the ability to reach the belly. ROC analysis suggests specific thresholds for maintaining this ability.
PubMed: 38810914
DOI: 10.1016/j.jse.2024.03.065 -
Neuromuscular Disorders : NMD Jul 2024Anti-Ku autoantibodies are associated with several autoimmune inflammatory diseases. We aimed to review our anti-Ku positive pediatric patients in this study. Four...
Anti-Ku autoantibodies are associated with several autoimmune inflammatory diseases. We aimed to review our anti-Ku positive pediatric patients in this study. Four pediatric patients (all female) who had anti-Ku positivity were included (Patients 1-2-3 with idiopathic inflammatory myopathy (IIM); Patient 4 with chronic urticaria). Patient 1 (onset:10.5 years) had proximal muscle weakness, Raynaud phenomenon, sclerodactyly, hyperpigmentation, joint contracture, and tenosynovitis. The disease course was progressive despite treatment with corticosteroids, intravenous immunoglobulin (IVIG), plasma exchange, and 11 different immunosuppressive drugs. Patient 2 (onset:15 years) presented with proximal muscle weakness, fatigue, weight loss. She recovered normal muscle strength after treatment with corticosteroids, IVIG, methotrexate, cyclosporine A, mycophenolate mofetil. Patient 3 (onset:10 years) had juvenile dermatomyositis with proximal muscle weakness, Gottron's papules, and calcinosis. She also had anti-NXP2 positivity. Remission was achieved with corticosteroids, methotrexate, azathioprine, and infliximab. Muscle biopsy findings revealed a variable spectrum of necrosis, regeneration, perifascicular pattern, and inflammation. Patient 4 had only chronic urticaria (onset: 6.5 years). The striking features of this series were heterogeneity in clinical presentations including solely chronic urticaria and IIM; variable response to immunosuppressive treatments; and histopathology revealing a spectrum of necrosis, regeneration and inflammatory infiltration. Expanding the spectrum of anti-Ku positivity will allow better understanding of anti-Ku-associated phenotype clusters.
Topics: Humans; Female; Adolescent; Child; Phenotype; Ku Autoantigen; Autoantibodies; Myositis; Chronic Urticaria
PubMed: 38805897
DOI: 10.1016/j.nmd.2024.05.008 -
European Journal of Medical Research May 2024Joint 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...
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.
Topics: Animals; Contracture; Pyroptosis; Rats; Male; Knee Joint; Rats, Sprague-Dawley; Hypoxia-Inducible Factor 1, alpha Subunit; NLR Family, Pyrin Domain-Containing 3 Protein; Hypoxia; Disease Models, Animal; Transforming Growth Factor beta1; Joint Capsule; Range of Motion, Articular; Smad3 Protein
PubMed: 38802976
DOI: 10.1186/s40001-024-01890-9 -
Plastic and Reconstructive Surgery.... May 2024Soft tissue reconstruction using flaps in managing mangled injuries is occasionally insufficient due to large defects and low flap viability. Conversely, delaying the...
Soft tissue reconstruction using flaps in managing mangled injuries is occasionally insufficient due to large defects and low flap viability. Conversely, delaying the closure of the defect can elevate the risk of infection. Adjuvant therapy becomes essential in the management of mangled injuries. We aim to present the use of low-cost vacuum-assisted closure (VAC) as an adjuvant therapy for mangled injuries. We reported the case of a 20-year-old man who sustained a mangled injury to his left forearm in a traffic accident 4 hours before admission. The mangled extremity severity score was 9; however, the patient declined amputation. Although the initial reconstruction was done, the flap could only cover vital structures. VAC was utilized to address the uncovered portion of the defect, to promote optimal granulation and prevent infection. The reconstruction proceeded with a skin graft and wrist arthrodesis. At 1-year follow-up, viable tissue was obtained but contracture occurred at the metacarpophalangeal and proximal interphalangeal joints. We intend to perform functional reconstruction at a later stage. Although the benefits of VAC in wound management are well established, reports regarding its advantages in mangled injury management remain relatively scarce. The high cost of VAC is a limiting factor, particularly in developing countries. This prompts the need for an affordable VAC innovation with comparable efficiency to the commercial model. Reverse Aqua Pump VAC, our innovative low-cost VAC, shows satisfactory outcomes in managing patients with mangled injuries with mangled extremity severity score indicating amputation.
PubMed: 38798936
DOI: 10.1097/GOX.0000000000005826 -
Plastic and Reconstructive Surgery.... May 2024This study aimed to demonstrate the clinical application of the dorsoproximal interphalangeal island flap as an alternative approach to skin graft or cross-finger flap...
BACKGROUND
This study aimed to demonstrate the clinical application of the dorsoproximal interphalangeal island flap as an alternative approach to skin graft or cross-finger flap to repair lesions at the ventral site at the proximal interphalangeal (PIP) finger joint.
METHODS
Fifteen patients received flaps (11 men and four women, n = 25 flaps). The repair of volar contracture in finger sequelae after burn injuries was the main indication. Five patients underwent two or more flaps during the same surgical session. The mean patient age was 18 years (range, 7-56 years). Most patients presented with palmar finger contractures of the PIP joint. In three patients, six flaps were rotated to the lateral radial and ulnar proximal surfaces of the finger to treat syndactyly.
RESULTS
Most flaps survived and provided satisfactory functional and aesthetic improvement of palmar scar contracture in the PIP region. Postoperative donor site follow-up was normal. The color and pliability of the skin are similar to those of the surrounding area. The follow-up period ranged from 6 months to 12 years.
CONCLUSIONS
Dorsoproximal interphalangeal island flaps are an option for repairing lesions that lack soft tissue and range in size from 10 × 15 to 12 × 18 mm at the volar site and around the PIP joint. The arch of rotation of this flap allows for lateral, ulnar, and radial rotations around the joint. The indication of six flaps in three patients to repair a proximal lack of tissue caused by syndactyly demonstrated its potential use in this anomaly.
PubMed: 38798926
DOI: 10.1097/GOX.0000000000005805 -
Rinsho Shinkeigaku = Clinical Neurology Jun 2024A 23-year-old man was admitted to our hospital with a one-year history of muscle weakness and atrophy. He had noticed contractures of the fingers of both hands from the...
A 23-year-old man was admitted to our hospital with a one-year history of muscle weakness and atrophy. He had noticed contractures of the fingers of both hands from the age of 18. Examination revealed a skin rash including heliotrope rash and Gottron's sign, joint contractures in the extremities, dysphagia, extensive muscle weakness and marked muscle atrophy. The serum creatine kinase level was 272 IU/l and muscle biopsy showed typical perifascicular atrophy but little lymphocyte invasion. There was no interstitial pneumonia or malignancy, but muscle tendons showed elevated CT values suggesting calcification or fibrosis. Anti-nuclear matrix protein 2 (NXP-2) antibody-positive dermatomyositis was diagnosed on the basis of the serum antibody level. Methylprednisolone pulse therapy ameliorated the skin rash and bulbar palsy, but muscle weakness, atrophy and joint contractures were resistant to the treatment. There have been no previous reports of young adults with anti-NXP-2 antibody-positive dermatomyositis in whom joint contracture became evident as early as 4 years beforehand, which is a important feature for differential diagnosis of dermatomyositis.
Topics: Humans; Dermatomyositis; Male; Young Adult; Autoantibodies; Contracture; Biomarkers; Pulse Therapy, Drug; Methylprednisolone; Diagnosis, Differential; RNA-Binding Proteins; Nuclear Proteins; Adult; Adenosine Triphosphatases; DNA-Binding Proteins; Transcription Factors
PubMed: 38797685
DOI: 10.5692/clinicalneurol.cn-001970