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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 -
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 -
Cureus Apr 2024Purpose There have been no reports comparing the change in medial and lateral posterior condylar offset (PCO) and the extension gaps. The purpose of this study was to...
Purpose There have been no reports comparing the change in medial and lateral posterior condylar offset (PCO) and the extension gaps. The purpose of this study was to elucidate the relationship between the change in medial and lateral PCO and the extension gap in total knee arthroplasty (TKA). The hypothesis is that an increase in both medial and lateral PCO can be a factor for a decrease in the extension gap, especially in cases of flexion contracture. Methods This retrospective study included 63 patients with medial osteoarthritis who underwent mobile-bearing PS-TKA using the modified gap techniques. Patients consisted of seven men (seven knees) and 53 women (56 knees), with the mean age of 76 (range, 58-88) years. The patients with valgus knee and cruciate retaining TKA were excluded. The medial ΔPCO (ΔPCO defined as the amount of change of the PCO before the resection of the posterior condyle and after the implant setting), lateral ΔPCO, the rotation angle of the posterior condyle osteotomy, and the gap differences were evaluated. The data were compared among three groups(Group A: ΔPCO increase on both sides, Group B: ΔPCO increase on only one side, Group C: ΔPCO decrease on both sides. The gap differences were compared between the cases with flexion contracture of ≥ 15° and the cases with flexion contracture of < 15°. The correlations between the gap differences and flexion contracture were evaluated in each group. Results There was no gap difference evident in any group (P≥0.05). The gap difference in Groups A (P=0.0067) and group C (P=0.0484) was significantly larger in cases with flexion contracture of ≥ 15° compared to those with flexion contracture of < 15°. Conclusions There was no correlation between the change in PCO and the extension gap. However, there was an inverse correlation between the flexion contracture and extension gap in cases with increased medial and lateral PCO.
PubMed: 38800174
DOI: 10.7759/cureus.59067 -
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 -
Medicina (Kaunas, Lithuania) Apr 2024: The correction of breast hypertrophy and ptosis with implant placement has always posed a challenge for plastic surgeons. Various methods have been devised, yielding...
: The correction of breast hypertrophy and ptosis with implant placement has always posed a challenge for plastic surgeons. Various methods have been devised, yielding conflicting results. The purpose of this study is to describe our surgical technique of breast reduction with silicone implants, present the safety profile of the procedure, and report patient-reported outcomes. : A retrospective review was performed on our case series of cosmetic breast surgery performed by the senior author between October 2020 and November 2023. Only patients who had over 300 g of breast tissue removed were included. The surgery and demographic characteristics were recorded. Patients were asked to complete a questionnaire about satisfaction with their breasts pre-operatively and after the surgery. : Over 745 cases were performed, and 25 were included in the analysis. In total, 78.3% of the patients presented with a Grade 3 ptosis. The mean implant size was 352.39 cc (range 300-455 cc). The breast tissue removed ranged from 312 to 657 g. The mean follow-up was 14.17 months. Only one case required revision surgery after developing capsular contracture and a waterfall deformity. Patients reported a statistically significant improvement across all domains of the questionnaire ( < 0.001). : Breast reduction plus implants is a safe and effective alternative for patients with large ptotic breasts who wish to attain a full upper pole. It carries a similar risk profile to augmentation mastopexy and maintains its functional benefits in alleviating back, neck, and shoulder pain.
Topics: Humans; Retrospective Studies; Female; Breast Implants; Patient Reported Outcome Measures; Adult; Middle Aged; Mammaplasty; Patient Satisfaction; Surveys and Questionnaires; Breast Implantation; Cohort Studies; Breast
PubMed: 38792926
DOI: 10.3390/medicina60050743 -
Journal of Clinical Medicine May 2024Chronic pain is a common symptom in various types of neuromuscular disorders. However, for patients with spinal muscular atrophy (SMA), the literature regarding chronic...
Chronic pain is a common symptom in various types of neuromuscular disorders. However, for patients with spinal muscular atrophy (SMA), the literature regarding chronic pain is scarce. Thus, this study assessed the prevalence of chronic pain in children, adolescents, and adults with SMA and investigated the influence of clinical characteristics on chronic pain. This study used data from 141 patients, which were collected by the Swiss Registry for Neuromuscular Disorders. Extracted data included information on pain (present yes/no, pain location, and pain medication) and clinical characteristics, such as SMA type, motor function, wheelchair use, scoliosis, and contractures. The analyses revealed that the highest prevalence of chronic pain was observed in adolescents with 62%, followed by adults with 48%, children (6-12 years) with 39%, and children < 6 years with 10%. The legs, back, and hips were most frequently reported as pain locations. Sex (females), age (adolescents), and the presence of contractures and scoliosis (with surgery) were factors that were associated with chronic pain. These findings contribute to a better understanding of pain in SMA, shedding light on its prevalence and characteristics in different age groups, which underscores the importance of assessing and managing pain in patients with SMA.
PubMed: 38792340
DOI: 10.3390/jcm13102798 -
Journal of Clinical Medicine May 2024Internal rotation contractures of the shoulder are common sequelae of conservatively treated obstetric brachial plexus palsy (OBPP) with incomplete spontaneous...
Internal rotation contractures of the shoulder are common sequelae of conservatively treated obstetric brachial plexus palsy (OBPP) with incomplete spontaneous neurological recovery. Humerus derotation osteotomy has been suggested as a possible treatment option to improve arm positioning. However, consensus as to whether humerus derotation osteotomy can successfully restore limb function is missing. In the present controlled cohort study, we aimed at analyzing global upper extremity kinematics with a 3D-video analysis system in children with shoulder internal rotation contractures secondary to OBPP before, and one year after, humerus derotation osteotomy. Patients under 18 years of age that presented to our center with conservatively treated internal rotation contractures of the shoulder and subsequently underwent humerus derotation osteotomy were included. The unimpaired arm served as a respective control. Pre-operatively, all patients showed severe internal rotation contractures of the shoulder of almost 60° at rest. At the follow-up, the position of the shoulder at rest was greatly shifted to 9° of internal rotation. The patients showed statistically significant improvement in maximum external rotation and abduction of the shoulder, as well as in maximum flexion of the elbow, and the range of motion of pro/supination. The maximum internal rotation of the shoulder, however, was diminished after the osteotomy. Our data indicated that derotational osteotomy is a promising procedure which can be used to correct for internal rotation contractures secondary to OBPP. Moreover, 3D-video analysis proved to be a useful tool that supplies the surgeon with both precise information about the degree of distortion pre-operatively, thus helping to decide on the amount of correction, and secondly, a measurement of the post-operative gain in upper extremity function.
PubMed: 38792301
DOI: 10.3390/jcm13102759 -
International Journal of Molecular... May 2024Fibrillin-1 and fibrillin-2, encoded by and , respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of...
Fibrillin-1 and fibrillin-2, encoded by and , respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing modalities have allowed detection of novel variants that may guide the care for patients and inform the genetic counseling for their families. We performed clinical phenotyping for two newborn infants with complex congenital heart defects. For genetic investigations, we employed next-generation sequencing strategies including whole-genome Single-Nucleotide Polymorphism (SNP) microarray for infant A with valvular insufficiency, aortic sinus dilatation, hydronephrosis, and dysmorphic features, and Trio whole-exome sequencing (WES) for infant B with dextro-transposition of the great arteries (D-TGA) and both parents. Infant A is a term male with neonatal marfanoid features, left-sided hydronephrosis, and complex congenital heart defects including tricuspid regurgitation, aortic sinus dilatation, patent foramen ovale, patent ductus arteriosus, mitral regurgitation, tricuspid regurgitation, aortic regurgitation, and pulmonary sinus dilatation. He developed severe persistent pulmonary hypertension and worsening acute hypercapnic hypoxemic respiratory failure, and subsequently expired on day of life (DOL) 10 after compassionate extubation. Cytogenomic whole-genome SNP microarray analysis revealed a deletion within the gene spanning exons 7-30, which overlapped with the exon deletion hotspot region associated with neonatal Marfan syndrome. Infant B is a term male prenatally diagnosed with isolated D-TGA. He required balloon atrial septostomy on DOL 0 and subsequent atrial switch operation, atrial septal defect repair, and patent ductus arteriosus ligation on DOL 5. Trio-WES revealed compound heterozygous c.518C>T and c.8230T>G variants in the gene. Zygosity analysis confirmed each of the variants was inherited from one of the parents who were healthy heterozygous carriers. Since his cardiac repair at birth, he has been growing and developing well without any further hospitalization. Our study highlights novel variants and signifies the phenotype-genotype association in two infants affected with complex congenital heart defects with and without dysmorphic features. These findings speak to the importance of next-generation high-throughput genomics for novel variant detection and the phenotypic variability associated with variants, particularly in the neonatal period, which may significantly impact clinical care and family counseling.
Topics: Humans; Fibrillin-1; Marfan Syndrome; Fibrillin-2; Male; Infant, Newborn; Heart Defects, Congenital; High-Throughput Nucleotide Sequencing; Female; Polymorphism, Single Nucleotide; Mutation; Genomics; Phenotype; Exome Sequencing; Adipokines
PubMed: 38791509
DOI: 10.3390/ijms25105469 -
Cureus Apr 2024Neuroepithelial tumors known as ependymomas can develop from cortical rests, the central canal of the spinal cord, or the ependymal cells of the cerebral ventricles....
Neuroepithelial tumors known as ependymomas can develop from cortical rests, the central canal of the spinal cord, or the ependymal cells of the cerebral ventricles. Ependymomas may arise anywhere along the neuraxis. Here, we present a 40-year-old male, a known case of grade II ependymomas, with a chief complaint of bilateral lower limb weakness and loss of sensation in the bilateral lower limb for 20 days. He started facing difficulties in performing activities such as walking, toileting activities, and squatting activities. The physiotherapy (PT) rehabilitation of the patient was tailored to achieve functional independence of the patient. The treatment session lasted for six weeks. Several outcome indicators were employed to evaluate our patient's progress toward functional recovery. Outcomes are measured using the Tone Grading Scale (TGS), the American Spinal Injury Association (ASIA) Impairment Scale, the World Health Organization Quality of Life (WHOQOL), manual muscle test, and the Barthel Index. Outcome measures were assessed on day one of treatment and the last day of the PT treatment. The patient's preliminary involvement in PT supported him to prevent serious complications like joint contractures and bed sores. Physical therapy is one of the most important parts of the rehabilitation practice for spinal cord injury (SCI) patients.
PubMed: 38784337
DOI: 10.7759/cureus.58809