A 19-year-old girl presented with symmetric and bilateral hyperpigmentation, an indurated lesion that initially appeared on the axillary fold at the age of 14, which then extended to the lower back, anterior aspect of both thighs, and popliteal fold. No hypertrichosis was observed (Figure 1).The patient was the youngest of the four children, born from the first-degree consanguineous marriage. She was born at full term and weighed 2,420 g at birth. No similar patient was present in the family. The patient experienced delayed motor acquisition and stature growth (3rd percentile) until the age of 4. Right hypoacusis was diagnosed at the age of 6. She developed hallux valgus, flexion contracture of the fin-gers and toes, barrel deformity of the anterior thorax, and recurrent fever. The laboratory tests, including fasting blood glucose, -triglycerides, C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR) were normal. Her abdominal, pelvic, and transthoracic ultrasound scans were normal, with no hepatosplenomegaly, lymphadenopathy, or cardiac abnormalities. Histologic analysis demonstrated patchy acanthosis of the epidermis, with orthokeratotic hyperkeratosis. Keratinocyte hyperpigmentation and spongiosis at certain areas were observed with moder-ate inflammation because of the infiltration of lymphocytes, histiocytes, and plasma cells. Immunohistochemical analysis showed macrosialin (CD68+) and common gamma chain (γc) CD132. Germline mutations in the SLC29A3 gene were not analyzed. The patient was prescribed dermocorticoids with depigmentation therapy, which demonstrated moderate clinical evolution.

Bruck syndrome is an autosomal recessive form of osteogenesis imperfecta (OI) caused by biallelic variants in PLOD2 or FKBP10 and is characterized by joint contractures, bone fragility, short stature, and scoliosis. PLOD2 encodes LH2, which hydroxylates type I collagen telopeptide lysines, a critical step for collagen crosslinking. The Plod2 global knockout mouse model is limited by early embryonic lethality, thus the role of PLOD2 in skeletogenesis is not well understood. We generated a novel Plod2 mouse line modeling a variant identified in two unrelated individuals with Bruck syndrome: PLOD2 c.1559dupC, predicting a frameshift and loss of the long isoform LH2b. In the mouse, the duplication led to loss of LH2b mRNA as well as significantly reduced total LH2 protein. This model, Plod2fs/fs, survived up to E18.5 although in non-Mendelian genotype frequencies. The homozygous frameshift model recapitulated the joint contractures seen in Bruck syndrome and had indications of absent type I collagen telopeptide lysine hydroxylation in bone. Genetically labeling tendons with Scleraxis-GFP in Plod2fs/fs mice revealed the loss of extensor tendons in the forelimb by E18.5 and developmental studies showed extensor tendons developed through E14.5 but were absent starting at E16.5. Second harmonic generation showed abnormal tendon type I collagen fiber organization, suggesting structurally abnormal tendons. Characterization of the skeleton by μCT and Raman spectroscopy showed normal bone mineralization levels. This work highlights the importance of properly crosslinked type I collagen in tendon and bone, providing a promising new mouse model to further our understanding of Bruck syndrome.
Bruck syndrome is a rare disease where individuals have brittle bone as well as contracted or stiff joints. Mutations in two genes are associated with Bruck syndrome and, in this work, we focus on PLOD2. Mice without Plod2 die at an early embryonic stage, before they have a chance to fully develop. In this work, we created a mouse with a PLOD2 mutation seen in people with Bruck syndrome. Some of these new Bruck syndrome model mice survived to a later gestational age, but all died at birth. The Bruck syndrome mice were small and had contracted joints. We found they were missing tendons in their arms and had structurally abnormal tendons in their knees. Bone mineralization was normal, but there were indications that the modifications needed for normal type I collagen structure were absent. Overall, this is an advantageous new mouse model of Bruck syndrome that can be used to study this rare disease and highlights the importance of Plod2 in tendon.

暂无摘要。

OBJECTIVE: To establish a predictive scoring model for bladder neck contracture (BNC) after laparoscopic enucleation of the prostate with preservation of the urethra (Madigan surgery) and explore the preventive measures against this postoperative complication.
METHODS: We included 362 cases of BPH treated by laparoscopic Madigan surgery from January 2019 to March 2022 (45 with and 317 without postoperative BNC) in the training group and another 120 cases treated the same way in the verification group, collected the clinical data on the patients and evaluated the results of surgery. Using the least absolute shrinkage and selection operator (LASSO) and multivariate logistic regression, we analyzed the risk factors for postoperative BNC and constructed a predictive scoring model for evaluation of the factors.
RESULTS: Compared with the baseline, the IPSS, quality of life (QOL) score and postvoid residual urine volume (PVR) were significantly decreased (P < 0.05) while the maximum urinary flow rate (Qmax) remarkably increased (P < 0.05) in the BPH patients at 3 months after surgery. Eight non-zero characteristic predictors were identified by LASSO regression analysis. Multivariate logistic regression analysis showed that short clinical experience of the surgeon, concurrent prostatitis, bladder rinse solution temperature <34℃, catheter blockage, urethral balloon injection volume >40 ml and postoperative constipation were independent risk factors for postoperative BNC (P < 0.05). The best cut-off value was 2.36 points in both the training and the verification groups. The results of evaluation exhibited a high discriminability of the predictive scoring model.
CONCLUSIONS: Laparoscopic Madigan surgery is a safe and effective method for the treatment of BPH. Short clinical experience of the surgeon, concurrent prostatitis, bladder rinse solution temperature <34℃, catheter blockage, water injected into the urethral balloon >40 ml and postoperative constipation were independent risk factors for postoperative BNC. The predictive scoring model constructed in this study has a good discriminability and is simple and feasible, contributive to the prediction of postoperative BNC in BPH patients undergoing laparoscopic Madigan surgery.

BACKGROUND: When the range of motion between two finger segments, both active and passive, is restricted, finger contracture occurs. The aim of this study is to investigate the best procedure to eliminate finger contracture and the functional and esthetic results of the different surgical procedures.
METHODS: A total of 31 patients with soft-tissue abnormalities of the hand were included in this prospective study. They underwent either contracture removal with K-wire and skin grafts or various flap procedures in the department of plastic surgery. Complaints of stiffness and discomfort were classified into five categories: none, mild, moderate, marked, and severe. The difficulty a person had in picking up objects, grasping, writing, etc., was used to determine the degree of disability. Absenteeism from work and surgical site infections were also recorded.
RESULTS: The mean age was 20.25 years, with a mean age of 23.05 for men and 15.83 for women. Overall, most cases occurred in the age range of 3-10 years. For K-wire surgery with skin grafting, the typical time off work was 24 days. The average recovery time ranged from 15.2 days for skin grafts to 16.9 days for tenolysis, 28.33 days for groyne flaps, and 41 days for abdominal flaps. Of all cases, 12 (38.00%) had a fair result, 10 (31.04%) had a moderate result, and 9 (30.96%) had an excellent result.
CONCLUSIONS: The most feasible method for treating these situations, which offers the greatest potential for a functional and cosmetic result, is contracture reduction with skin grafting.
Résumé Contexte:Lorsque l’amplitude de mouvement entre deux segments de doigts, actifs et passifs, est restreinte, une contracture des doigts se produit. Le Le but de cette étude est d’étudier la meilleure procédure pour éliminer la contracture des doigts et les résultats fonctionnels et esthétiques des différents interventions chirurgicales.Matériels et méthodes:Au total, 31 patients présentant des anomalies des tissus mous de la main ont été inclus dans cette étude prospective. étude. Ils ont subi soit une ablation des contractures avec du fil K et des greffes de peau, soit diverses procédures de lambeau dans le service de chirurgie plastique. Les plaintes de raideur et d’inconfort ont été classées en cinq catégories: aucune, légère, modérée, marquée et grave. La difficulté d’une personne qu’ils avaient à ramasser des objets, à les saisir, à écrire, etc., a été utilisé pour déterminer le degré d’incapacité. Absentéisme au travail et sur le site chirurgical des infections ont également été enregistrées.Résultats:L’âge moyen était de 20,25 ans, avec un âge moyen de 23,05 ans pour les hommes et de 15,83 ans pour les femmes. Dans l’ensemble, la plupart des cas sont survenus dans la tranche d’âge de 3 à 10 ans. Pour la chirurgie au fil K avec greffe de peau, le temps d’arrêt typique était de 24 jours. La moyenne le temps de récupération variait de 15,2 jours pour les greffes de peau à 16,9 jours pour la ténolyse, 28,33 jours pour les lambeaux d’épi et 41 jours pour les lambeaux abdominaux. Parmi tous les cas, 12 (38,00 %) ont eu un résultat passable, 10 (31,04 %) ont eu un résultat modéré et 9 (30,96 %) ont eu un excellent résultat.Conclusion:le plus La méthode réalisable pour traiter ces situations, qui offre le plus grand potentiel de résultat fonctionnel et esthétique, est la réduction des contractures. avec greffe de peau.

Spastic elbow deformity in patients with upper motor neuron injuries results from an imbalance of flexor and extensor forces across the ulnohumeral joint. Although not all deformities reflect the same underlying imbalances, the elbow most commonly rests in a flexed position. Patients may present with a combination of muscle spasticity, myostatic contracture, and/or joint contracture. A focused history and physical examination are essential for developing individualized surgical plans that account for variations in deformity severity and patient goals. Patients may present with or without volitional control; goals and treatment options differ depending on the degree of control present. Techniques include hyperselective neurectomy, tendon lengthening, muscle origin release, myotomy, tenotomy, periarticular soft tissue release, and skin rearrangement. This article presents a comprehensive review of the surgical approach to the volitional and nonvolitional spastic elbow deformities.

O\'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant genetic disorder caused by mutations in the KMT2E (lysine methyltransferase 2E) gene. The Third Xiangya Hospital of Central South University admitted a 12-year and 9-month-old male patient who presented with growth retardation, intellectual disability, and distinctive facial features. Peripheral blood was collected from the patient, and DNA was extracted for genetic testing. Chromosome karyotyping showed 46XY. Whole-exome sequencing and low-coverage massively parallel copy number variation sequencing (CNV-seq) revealed a 506 kb heterozygous deletion in the 7q22.3 region, which includes 6 genes, including KMT2E. The patient was diagnosed with ODLURO syndrome. Both the patient\'s parents and younger brother had normal clinical phenotypes and genetic test results, indicating that this deletion was a de novo mutation. The clinical and genetic characteristics of this case can help increase clinicians\' awareness of ODLURO syndrome.
O’Donnell-Luria-Rodan(ODLURO)综合征是KMT2E(lysine methyltransferase 2E)基因突变引起的常染色体显性遗传病。中南大学湘雅三医院收治1例表现为生长发育迟缓、智力低下、特殊面容的12岁9个月男性患儿，采集患者外周血，提取DNA进行基因检测，发现患儿染色体核型为46XY，全外显子组测序及低深度全基因组测序技术(low-coverage massively parallel copy number variation sequencing，CNV-seq)分析显示患儿在染色体7q 22.3区域存在506 kb的杂合性缺失，缺失区域包含KMT2E在内的6个基因，诊断为ODLURO综合征。其父母、弟弟临床表型及基因检测均无异常，提示该缺失为新发突变。此病例的临床和遗传特征有助于提高临床医师对ODLURO综合征的认识。.

Infantile systemic hyalinosis (ISH) is a very rare autosomal recessive disorder, which is characterized by a systemic build-up of hyaline material that causes extensive tissue destruction and functional impairment. The signs of this debilitating illness, which can involve organs, skin anomalies, and joint contractures, frequently appear in infancy. The paucity of available research on ISH emphasizes the need for all-encompassing management approaches to address the wide range of symptoms and enhance the overall quality of life for impacted babies. The interdisciplinary approach to ISH highlights the need for physiotherapy as a crucial element, with an emphasis on addressing the motor and developmental problems linked to the illness. Improving mobility and functional independence in newborns with ISH is facilitated by therapeutic exercises designed specifically for their needs. Here, we present a case of a six-month-old male child who visited a tertiary care center with complaints of minimal movements of all four limbs since birth with the inability to hold the neck. On examination, it was found that there were low-set ears with popular rashes and contractures over distal joints. Electromyography (EMG) and nerve conduction velocity (NCV) were done, which had abnormal findings suggestive of myopathy. On skin biopsy, it was confirmed that the child was suffering from ISH. Thus, the patient was referred to a physiotherapist. After six weeks of physiotherapy sessions, it was found that early and consistent physiotherapy interventions have been linked to a decrease in joint stiffness-related pain and discomfort, improving the affected infants\' general comfort. Furthermore, physiotherapy interventions have a crucial role in supporting adaptive methods to get around physical restrictions, making it easier for infants with ISH to reach developmental milestones that could otherwise be difficult. Although there is little research on the effects of physical therapy on infants with ISH, new data indicate that a proactive, tailored physical therapy program can greatly enhance the functional ability of impacted children, improve their overall quality of life, and avert further problems. It is crucial to incorporate physiotherapy into the comprehensive care of infants diagnosed with ISH. This highlights the significance of timely diagnosis, interdisciplinary cooperation, and continuous research aimed at improving and optimizing physiotherapeutic therapies for this uncommon and crippling genetic illness.

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.