To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.

Nonunion of osteoporotic vertebral fractures (OVF), predominantly affecting the elderly, can lead to intractable pain, vertebral collapse, progressive kyphotic deformity, and neurological impairment, significantly compromising patients′ quality of life. There exists considerable debate on diagnosis and management of OVF, encompassing key issues such as clinical diagnosis and staging criteria for nonunion, surgical indications and procedure selection, and postoperative rehabilitation planning. Currently, there lacks standardized clinical guideline and expert consensus on the diagnosis and management of OVF nonunion in China. To address this gap, Minimally Invasive Surgery Group of Chinese Orthopedic Association, Osteoporosis Committee of Chinese Association of Orthopedic Surgeons, Prevention and Rehabilitation Committee for Osteoporosis of Chinese Association of Rehabilitation Medicine and Minimally Invasive Orthopedic Surgery Branch of China Association for Geriatric Care jointly organized domestic experts in spinal surgery, endocrinology, and rehabilitation to formulate the Clinical guideline for the diagnosis and treatment for nonunion of osteoporotic vertebral fractures ( version 2025), based on existing literature and clinical experience and adhering to principles of scientific rigor and practicality. The guideline provided 13 evidence-based recommendations encompassing diagnosis and treatment of OVF nonunion, aiming to standardize its clinical management.

Objective:To investigate the efficacy of the supercharged gracilis myocutaneous flap in reconstruction of the surgical defects following resection of soft tissue sarcoma (STS) in extremities.Methods:A retrospective analysis was conducted on 6 patients who received surgery to remove STS in extremities followed by reconstructive surgery with a supercharged gracilis myocutaneous flap to reconstruct the surgical defect (16.0 cm×4.8 cm-25.0 cm×8.0 cm), at the Department of Microsurgery, the 4th Medical Centre, Chinese PLA General Hospital between January 2023 and January 2024. The locations of sarcoma were: 3 in left forearm, 2 in right calf and 1 in left calf. The pathological types of the sarcoma were: 1 of myxoid liposarcoma, 1 of dedifferentiated liposarcoma, 1 of alveolar rhabdomyosarcoma, 1 of low-grade myxofibrosarcoma and 2 of fibrosarcoma. According to the Enneking classification, 2 sarcomas were in stage I and 4 in stage Ⅱa. All patients underwent expanded resection of the sarcoma and followed by reconstruction of the surgical defect with supercharged gracilis myocutaneous flap. The flap size ranged from 18.0 cm×5.2 cm to 27.7 cm×10.2 cm, with the length of the muscle flap at 25.92 cm±5.57 cm and 17.0 cm×2.8 cm×2.7 cm-32.0 cm×6.0 cm×3.5 cm in volume. The surgical defects were filled with muscle flaps, while the wounds were covered by cutaneous flaps. The perforating branches of the deep femoral artery carried by proximal vascular pedicle of the myocutaneous flap were anastomosed end-to-end with the prominent vessels of the recipient site. Where, the perforators of the distal femoral artery of the myocutaneous flap were anastomosed end-to-end with the recipient vessels for external blood perfusion, and the great saphenous vein of the flap was anastomosed end-to-end with the superficial veins of the recipient site. All donor sites were directly sutured. Scheduled postoperative follow-ups at outpatient clinic were conducted to assess the viability of the transferred myocutaneous flap. Limb function was evaluated using the Musculoskeletal Tumour Society-93 (MSTS-93) and the Toronto Extremity Salvage Score (TESS).Results:The postoperative follow-up lasted for 12 to 20 months. All 6 myocutaneous flaps survived without distal necrosis. All patients regained daily activities and functioned well. The MSTS-93 scores achieved 24 to 30 (27.0 ± 2.4) points; while the recovery rate of limb function were 85% to 100% (90.00% ± 7.89%) and the TESS were 85% to 100% (93.65% ± 5.47%). No patients exhibited tumour recurrence over the period of follow-up.Conclusion:The supercharged gracilis myocutaneous flap is a safe and effective myocutaneous flap. It serves as an effective method for soft tissue reconstruction after surgical resection of STS in extremities.

Nonunion of osteoporotic vertebral fractures (OVF), predominantly affecting the elderly, can lead to intractable pain, vertebral collapse, progressive kyphotic deformity, and neurological impairment, significantly compromising patients′ quality of life. There exists considerable debate on diagnosis and management of OVF, encompassing key issues such as clinical diagnosis and staging criteria for nonunion, surgical indications and procedure selection, and postoperative rehabilitation planning. Currently, there lacks standardized clinical guideline and expert consensus on the diagnosis and management of OVF nonunion in China. To address this gap, Minimally Invasive Surgery Group of Chinese Orthopedic Association, Osteoporosis Committee of Chinese Association of Orthopedic Surgeons, Prevention and Rehabilitation Committee for Osteoporosis of Chinese Association of Rehabilitation Medicine and Minimally Invasive Orthopedic Surgery Branch of China Association for Geriatric Care jointly organized domestic experts in spinal surgery, endocrinology, and rehabilitation to formulate the Clinical guideline for the diagnosis and treatment for nonunion of osteoporotic vertebral fractures ( version 2025), based on existing literature and clinical experience and adhering to principles of scientific rigor and practicality. The guideline provided 13 evidence-based recommendations encompassing diagnosis and treatment of OVF nonunion, aiming to standardize its clinical management.

Objective:To investigate the efficacy of the supercharged gracilis myocutaneous flap in reconstruction of the surgical defects following resection of soft tissue sarcoma (STS) in extremities.Methods:A retrospective analysis was conducted on 6 patients who received surgery to remove STS in extremities followed by reconstructive surgery with a supercharged gracilis myocutaneous flap to reconstruct the surgical defect (16.0 cm×4.8 cm-25.0 cm×8.0 cm), at the Department of Microsurgery, the 4th Medical Centre, Chinese PLA General Hospital between January 2023 and January 2024. The locations of sarcoma were: 3 in left forearm, 2 in right calf and 1 in left calf. The pathological types of the sarcoma were: 1 of myxoid liposarcoma, 1 of dedifferentiated liposarcoma, 1 of alveolar rhabdomyosarcoma, 1 of low-grade myxofibrosarcoma and 2 of fibrosarcoma. According to the Enneking classification, 2 sarcomas were in stage I and 4 in stage Ⅱa. All patients underwent expanded resection of the sarcoma and followed by reconstruction of the surgical defect with supercharged gracilis myocutaneous flap. The flap size ranged from 18.0 cm×5.2 cm to 27.7 cm×10.2 cm, with the length of the muscle flap at 25.92 cm±5.57 cm and 17.0 cm×2.8 cm×2.7 cm-32.0 cm×6.0 cm×3.5 cm in volume. The surgical defects were filled with muscle flaps, while the wounds were covered by cutaneous flaps. The perforating branches of the deep femoral artery carried by proximal vascular pedicle of the myocutaneous flap were anastomosed end-to-end with the prominent vessels of the recipient site. Where, the perforators of the distal femoral artery of the myocutaneous flap were anastomosed end-to-end with the recipient vessels for external blood perfusion, and the great saphenous vein of the flap was anastomosed end-to-end with the superficial veins of the recipient site. All donor sites were directly sutured. Scheduled postoperative follow-ups at outpatient clinic were conducted to assess the viability of the transferred myocutaneous flap. Limb function was evaluated using the Musculoskeletal Tumour Society-93 (MSTS-93) and the Toronto Extremity Salvage Score (TESS).Results:The postoperative follow-up lasted for 12 to 20 months. All 6 myocutaneous flaps survived without distal necrosis. All patients regained daily activities and functioned well. The MSTS-93 scores achieved 24 to 30 (27.0 ± 2.4) points; while the recovery rate of limb function were 85% to 100% (90.00% ± 7.89%) and the TESS were 85% to 100% (93.65% ± 5.47%). No patients exhibited tumour recurrence over the period of follow-up.Conclusion:The supercharged gracilis myocutaneous flap is a safe and effective myocutaneous flap. It serves as an effective method for soft tissue reconstruction after surgical resection of STS in extremities.

Objective:To investigate the relationship between 1p/16q loss of heterozygosity (LOH) and 1p gain in Wilms tumor and their clinicopathologic characteristics and prognosis.Methods:A total of 175 Wilms tumor samples received from the Department of Pathology, Beijing Children′s Hospital from September 2019 to August 2022 were retrospectively analyzed. The histopathologic type and presence of lymph node involvement were evaluated by two pathologists. The clinical data including patients′gender, age, tumor location, preoperative chemotherapy, and tumor stage were summarized. Fluorescence in situ hybridization (FISH) was done to detect 1p/16q LOH and 1p gain and their correlation with the clinicopathological features and prognosis were analyzed.Results:Among the 175 samples, 86 cases (49.1%) were male and 89 (50.9%) were female. The mean age was (3.5±2.9) years, and the median age was 2.6 years. There were 26 (14.9%) cases with 1p LOH, 28 (16.0%) cases with 16q LOH, 10 (5.7%) cases of LOH at both 1p and 16q, and 53 (30.3%) cases with 1q gain. 1q gain was significantly associated with 1p LOH ( P<0.01) and 16q LOH ( P<0.01). There were significant differences ( P<0.01) between 1q gain, 1p LOH and 16q LOH among different age groups. The rate of 16q LOH in the high-risk histopathological subtype (50.0%) was significantly higher than that in the intermediate-risk subtype (13.6%, P<0.05). The frequency of 1q gain, 1p LOH, and 16q LOH in children with advanced clinical stages (Ⅲ and Ⅳ) was significantly higher than that in children with early clinical stages (Ⅰ and Ⅱ). 1q gain, 1p LOH, and 16q LOH showed no significant correlation with gender, unilateral or bilateral disease, chemotherapy, or lymph node metastasis. The progression-free survival (PFS) time for patients with 1q gain and 1p LOH was significantly shorter than those without these aberrations ( P<0.05). Additionally, the PFS time of patients with 16q LOH was slightly shorter than those with normal 16q, although the difference was not statistically significant. Patients with stage Ⅲ to Ⅳ disease exhibiting 1q gain or 1p LOH had a significantly higher relative risk of recurrence, metastasis, and mortality. Conclusions:1p/16q LOH and 1q gain are associated with age, high-risk histological type, and clinical stage in Wilms tumor. 1q gain and 1p LOH are significantly correlated with the prognosis of Wilms tumor.

A novel structural dynamics test method and device were designed to test the biomechanical effects of dynamic axial loading on knee cartilage and meniscus. Firstly, the maximum acceleration signal-to-noise ratio of the experimental device was calculated by applying axial dynamic load to the experimental device under unloaded condition with different force hammers. Then the experimental samples were divided into non-specimen group (no specimen loaded), sham specimen group (loaded with polypropylene samples) and bovine knee joint specimen group (loaded with bovine knee joint samples) for testing. The test results show that the experimental device and method can provide stable axial dynamic load, and the experimental results have good repeatability. The final results confirm that the dynamic characteristics of experimental samples can be distinguished effectively by this device. The experimental method proposed in this study provides a new way to further study the biomechanical mechanism of knee joint structural response under axial dynamic load.
Animals ; Cattle ; Biomechanical Phenomena ; Knee Joint/physiology* ; Meniscus ; Mechanical Phenomena ; Weight-Bearing

The gastrointestinal tract is the largest digestive organ and the largest immune organ and detoxification organ, which is vital to the health of the body. Drosophila is a classic model organism, and its gut is highly similar to mammalian gut in terms of cell composition and genetic regulation, therefore can be used as a good model for studying gut development. target of rapmaycin complex 1 (TORC1) is a key factor regulating cellular metabolism. Nprl2 inhibits TORC1 activity by reducing Rag GTPase activity. Previous studies have found that nprl2 mutated Drosophila showed aging-related phenotypes such as enlarged foregastric and reduced lifespan, which were caused by over-activation of TORC1. In order to explore the role of Rag GTPase in the developmental defects of the gut of nprl2 mutated Drosophila, we used genetic hybridization combined with immunofluorescence to study the intestinal morphology and intestinal cell composition of RagA knockdown and nprl2 mutated Drosophila. The results showed that RagA knockdown alone could induce intestinal thickening and forestomach enlargement, suggesting that RagA also plays an important role in intestinal development. Knockdown of RagA rescued the phenotype of intestinal thinning and decreased secretory cells in nprl2 mutants, suggesting that Nprl2 may regulate the differentiation and morphology of intestinal cells by acting on RagA. Knockdown of RagA did not rescue the enlarged forestomach phenotype in nprl2 mutants, suggesting that Nprl2 may regulate forestomach development and intestinal digestive function through a mechanism independent of Rag GTPase.
Animals ; Drosophila/genetics* ; Mechanistic Target of Rapamycin Complex 1/metabolism* ; Mammals/metabolism* ; Carrier Proteins ; Tumor Suppressor Proteins/metabolism* ; Drosophila Proteins/genetics*

Objective:To investigated the efficacy and safety of transurethral bladder neck incision and laparoscopic modified bladder neck Y-V plasty in the treatment of bladder neck contracture (BNC)after transurethral resection of prostate (TURP).Methods:The clinical data of 57 patients with BNC after TURP who were treated in the Department of Urology, Sixth People's Hospital, Shanghai Jiaotong University School of Medicine from January 2013 to December 2022 were retrospectively analyzed.And the patients were divided into two groups based on the different surgical approaches. There were 22 cases in the transurethral bladder neck incision group, with an average age of (73.75±7.62) years and the preoperative urinary flow Q max of (3.92±2.73) ml/s. The preoperative International Prostate Symptom Score (IPSS) was (26.92±3.34) points, and the quality of life (QOL) score was (4.83±0.72) points. There were 35 cases in laparoscopic modified bladder neck Y-V plasty group, with an average age of (68.57±9.31) years and the preoperative urinary flow Q max of (2.56±1.27)ml/s. The preoperative IPSS was (27.08±3.06) points, and the QOL score was (5.08±0.84) points. The patients underwent transurethral bladder neck incision: Scar tissue was incised at 3, 9, and 12 o'clock in the bladder neck, and the incision depth reached the external fat of the bladder neck at 3 and 9 o'clock. Patients with significantly elevated bladder neck were treated with plasma electrosurgical resection to remove scar tissue. The patients underwent laparoscopic modified bladder neck Y-V plasty: After proper exposition of the bladder neck, the scar tissue was excised. the anterior bladder wall was incised in an inverted Y-shaped manner, the apex of the V-shaped flap was sutured to the distal urethrotomy to create a widened bladder neck. The postoperative urinary flow Q max, IPSS, and QOL of the two groups were compared. Results:All patients underwent surgeries successfully, with a one-time success rate of 94.3% (33/35) in the laparoscopic modified bladder neck Y-V plasty group, which was higher than the one-time success rate of 68.2% (15/22) in the transurethral bladder neck incision group( P<0.01). There were statistically significant difference in operation time [(31.75±12.81)min vs. (68.57±22.36)min] and postoperative hospital stay [(1.73±0.94)d vs. (5.17±2.12)d] between the transurethral bladder neck incision group and the laparoscopic modified bladder neck Y-V plasty group ( P<0.05). The median follow-up period was 12.6 (7.3, 27.8) months. The IPSS of the transurethral bladder neck incision group and the laparoscopic modified bladder neck Y-V plasty group were (9.92±2.56) points and (7.16±2.21) points, respectively. The QOL was (2.76±1.24) points and (1.31±0.95) points, respectively. The urinary flow Q max at 6 months after operation was (15.13±4.68)ml/s and (19.96±4.17)ml/s, respectively. There was statistical significance( P<0.05). Conclusions:Both laparoscopic modified bladder neck Y-V plasty and transurethral bladder neck incision are safe and effective in the treatment of BNC after TURP, and laparoscopic modified bladder neck Y-V plasty has a better clinical therapeutic effect.

OBJECTIVE： To mine and evaluate the post-marketing safety alert signals of pegaspargase （PEG-ASP） and L-asparaginase （L-ASP），and compare the safety differences between them ，so as to provide reference for clinical safe and rational drug use. METHODS ： The adverse drug event （ADE） reports of PEG-ASP and L-ASP issued by FDA adverse event reporting system from Jan. 1st，2004-Jun. 30th，2020 were retrieved. BCPNN method was used to mine the safety signals of these two drugs under the condition that the lower limit of information component （IC－2SD）＞0 and the number of events ≥3. The medium and strong signals of two drugs with IC －2SD≥1.5 were evaluated and compared in 8 system organ class，such as gastrointestinal system ，hepatobiliary system ，blood and lymphatic system ，blood vessels and lymphatic vessels ， nervous system ，immune system ，metabolism and nutrition ，various examinations. IC value of specific ADE signal and its 95％ confidence interval were analyzed by time scanning spectrum. RESULTS & CONCLUSIONS ：The reports of PEG-ASP and L-ASP as suspected drugs were 2 324 and 3 824；67 and 68 medium and strong signals were included ，respectively. In gastrointestinal system，the common strong signal of PEG-ASP and L-ASP was necrotic pancreatitis. In hepatobiliary system ，both of them showed strong signal in venoocclusive liver disease ，and this ADE was not included in the drug instruction. In blood and lymphatic system ， common strong signals of the two drugs were febrile neutropenia ，coagulation disorder ，neutropenia and febrile bone marrow regeneration disorder ；in blood vessels and lymphatic vessels ，in addition to haemodynamic instability ，IC values of other signals of L-ASP were higher than those of PEG-ASP. In nervous system ，IC values of other signals of L-ASP were higher than those of PEG-ASP except for intracranial haemorrhage. In immune system ，anaphylactic reaction was a medium signal for L-ASP but was a strong signal for PEG-ASP. In metabolism and nutritional diseases ，except for tumor lysis syndrome ，IC values of other signals of L-ASP were higher than those of PEG-ASP. The results of time scanning spectrum showed that the signals of necrotic pancreatitis and coagulation disorder of PEG-ASP were stable ，while the signals of veno occlusive liver disease and hypersensitivity were unstable and needed to be observed ；above four signals of L-ASP were stable signals. When using PEG-ASP or L-ASP clinically ， close attention should be paid to the safety problems such as hypersensitivity ，coagulation disorder ，thrombosis，necrotic pancreatitis，venoocclusive liver disease and hypoproteinemia.