Burns of the hand are prevalent and must be managed aggressively in the acute phase to prevent deformity and disability. Proper early wound management, achieving durable soft tissue coverage, and appropriate positioning in the acute period offer substantial benefits to patients long-term. When contractures occur, secondary procedures are often indicated, and they range from laser therapy to local/regional flap coverage; rarely free flaps are used. Boutonniere deformities are common, and unfortunately, at times finger amputation renders the hand more functional than further efforts at reconstruction.

Dupuytren disease is a progressive disease process that causes debilitating flexion contractures of the metacarpophalangeal and proximal interphalangeal joints. There are multiple interventions to choose from, ranging from minimally invasive techniques with little downtime to open surgical excision with a lengthy postoperative rehabilitation. Our understanding of the disease process continues to evolve. Depending on the extent of flexion contracture, needle aponeurotomy and collagenase injection have satisfactory results with moderate long-term efficacy. Surgical palmar fasciectomy continues to be the mainstay treatment of extensive contractures, with durable results.

Acquired deforming hypertonia (ADH) affects the daily care of numerous nursing home residents. The aim of this study was to analyze the practice, aims, and effectiveness of botulinum toxin injections (BTxis) in the treatment of older patients with contractures, an indication for which BTxis are still underused. Data were extracted retrospectively from medical records regarding population, contractures, and injections. A prospective analysis was conducted to evaluate treatment goals set by goal attainment scaling (GAS) at T0 and at T1, to evaluate the therapeutic effects. We also recorded the occurrence of side effects, using a telephone questionnaire. This study included 41 patients older than 70 years who had received one or more BTxis for the first time between January 2018 and December 2021. Most of the older people we included lived in an institution (66%), manifested severe dependence, and presented significant morbi-mortality (37% of the patients died in the year after the last injection). The main objectives of these injections were purely comfort, without any functional goals. The GAS scores suggested effectiveness for comfort GAS scores. No complications were recorded. This study highlights the BTxis potential to address the needs of a larger number of older patients with ADH.

While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched because they are positively selected in the testes of aging men. These \"selfish\" mutations cause disorders with a shared presentation of features, including exclusive paternal origin, significant increase of the father\'s age, and high apparent germline mutation rate. To date, all known selfish mutations cluster within the components of the RTK-RAS-MAPK signaling pathway, a critical modulator of testicular homeostasis. Here, we demonstrate the selfish nature of the SMAD4 DNMs causing Myhre syndrome (MYHRS). By analyzing 16 informative trios, we show that MYHRS-causing DNMs originated on the paternally derived allele in all cases. We document a statistically significant epidemiological paternal age effect of 6.3 years excess for fathers of MYHRS probands. We developed an ultra-sensitive assay to quantify spontaneous MYHRS-causing SMAD4 variants in sperm and show that pathogenic variants at codon 500 are found at elevated level in sperm of most men and exhibit a strong positive correlation with donor\'s age, indicative of a high apparent germline mutation rate. Finally, we performed in vitro assays to validate the peculiar functional behavior of the clonally selected DNMs and explored the basis of the pathophysiology of the different SMAD4 sperm-enriched variants. Taken together, these data provide compelling evidence that SMAD4, a gene operating outside the canonical RAS-MAPK signaling pathway, is associated with selfish spermatogonial selection and raises the possibility that other genes/pathways are under positive selection in the aging human testis.

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 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, and 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 that 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.

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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.