Objective To systematically analyze the literature characteristics of Journal of Organ Transplantation since its inception. Methods Using the China National Knowledge Infrastructure (CNKI) academic journal full-text database as the data source, all articles published in the Journal of Organ Transplantation from January 2010 to August 2025 were retrieved. After excluding non-academic papers, a total of 1 568 research papers were included. R language 4.3.0, Bibliometrix package 3.2.1, and Citespace software were used to analyze the number of publications, publishing institutions, authors, keywords and other aspects. Results The number of publications in Journal of Organ Transplantation increased from an average of 82 articles per year in the early years after its inception to 113 articles per year in recent years, a growth of 37.8%. The geographical distribution of publishing institutions covers 32 provinces, cities and autonomous regions nationwide, mainly concentrated in the South China, East China and North China regions, and has now basically covered the central and western regions in recent years. The author collaboration network includes 45 authors distributed across 7 major collaboration clusters, forming a stable multi-level national research system centered on key university-affiliated hospitals. The high-frequency keywords are dominated by "liver transplantation" (425 times) and "kidney transplantation" (396 times). The theme evolution shows a clear three-stage characteristic: initially focusing on clinical technology application, deepening to immune mechanism exploration in the middle stage, and recently (since 2022) focusing on cutting-edge research areas such as xenotransplantation. Conclusions Journal of Organ Transplantation has witnessed the rapid development of China's organ transplantation cause, fully reflecting the research status and trends in China's organ transplantation field, and has provided an important platform for the future development and international cooperation in China's organ transplantation field.

Cornelia de Lange syndrome （CdLS） is a rare genetic disorder characterized by multisystem developmental abnormalities， with its core pathogenic mechanism closely linked to dysfunction of the cohesin complex. Integrated multi‑omics evidence revealed that cohesin dysfunction disrupted three‑dimensional chromatin architecture and epigenetic homeostasis， triggered genome‑wide transcriptional dysregulation， and perturbed the regulatory networks of signaling pathways such as Wnt/β‑catenin， TGF‑β/BMP， and Sonic Hedgehog （SHH）. These disturbances collectively drove multisystem phenotypes involving the neurological， cardiovascular and skeletal systems， and laid a theoretical foundation for further understanding of the pathological mechanisms of CdLS and optimizing molecular diagnosis. This review summarized the genetic basis （including epigenetic dysregulation mechanisms） and disruption of key developmental signaling pathways in CdLS，and discussed strategies for optimizing molecular diagnosis.

Objective To explore the epidemiological characteristics of gouty arthritis in Northwest China from 2023 to 2025, and to formulate preventive intervention measures. Methods By retrospectively analyzing the case data of medical institutions in Northwest China from January 2023 to June 2025 (a total of 8 139 cases), the incidence trend and population distribution characteristics of gouty arthritis in this area were analyzed. Multivariate logistic regression analysis was performed to identify risk factors. Results From 2023 to 2025, the prevalence rate of gouty arthritis in adult residents in Northwest China was 3.74% (304/8 139). Among the sites affected by gouty arthritis, the metatarsophalangeal joint accounted for the highest proportion (P<0.05). From the perspective of age distribution, the prevalence rate was the highest in 40-59 years old group (5.90%), followed by 66-80 years old group (4.21%) and >80 years old group (2.75%). The incidence rate in 40-65 years old group was higher than that in the other age groups (P<0.05). High blood uric acid and creatinine, alcohol drinking, obesity, high purine diet, concurrent chronic kidney disease and metabolic syndrome were risk factors affecting gouty arthritis in Northwest China (P<0.05). Conclusion High blood uric acid level, high creatinine level, alcohol drinking, obesity, high purine diet, concurrent chronic kidney disease and metabolic syndrome are risk factors influencing gouty arthritis in Northwest China. Based on the above factors, this study proposes comprehensive prevention strategies from the individual, community and public health levels to provide a scientific basis for reducing the incidence rate of gouty arthritis.

Objective To understand the current situation and influencing factors of work-related musculoskeletal disorders (WMSDs) in medical staff in Beijing City. Methods A total of 2 687 medical staff were selected as the research subjects using the multi-stage sampling method. The current situation of WMSDs and occupational stress, anxiety symptoms, depressive symptoms, and insomnia symptoms were investigated using the Musculoskeletal Disorders Questionnaire, the Core Occupational Stress Scale, the Generalized Anxiety Disorder Scale, the Patient Health Questionnaire Depression Scale, and the Self-Sleep Management Questionnaire. The Max-Min Hill-Climbing algorithm was used to construct a Bayesian network model to analyze the influencing factors and internal relationships of WMSDs and to conduct reasoning and prediction of the model. Results The prevalence of WMSDs among the research subjects was 88.9%. Binary logistic regression analysis was used to identify age, educational level, personal monthly income, anxiety symptoms, depressive symptoms, insomnia symptoms, prolonged forward-head desk work, and prolonged static posture work to construct the Bayesian network model. The model consisted of nine nodes and eleven directed edges. Prolonged static posture work, prolonged forward-head desk work, and anxiety symptoms were directly related to WMSDs. Age and educational level were indirectly related to WMSDs through their influence on prolonged forward-head desk work. Depression symptoms were indirectly associated with WMSDs through their influence on anxiety symptoms. The model's prediction accuracy was 90.5%. Conclusion The prevalence of WMSDs among medical staff in Beijing City is relatively high. Prolonged static posture work, prolonged forward-head desk work, and anxiety symptoms may directly increase the risk of developing WMSDs.

OBJECTIVE: To assess the feasibility of first polar body transfer (PB1T) combined with preimplantation mitochondrial genetic testing for blocking the transmission of a pathogenic mitochondrial DNA 8993T>G mutation. METHODS: A Chinese family affected with Leigh syndrome which had attended the Reproductive Medicine Centre of the First Affiliated Hospital of Anhui Medical University in September 2021 was selected as the study subject. Controlled ovarian hyperstimulation was carried out for the proband after completing the detection of the mitochondrial DNA 8993T>G mutation load among the pedigree members. Mature MII oocytes were inseminated by intracytoplasmic sperm injection (ICSI), cultured in vitro for 5 to 6 days to the blastocyst stage, and trophoblastocytes were obtained by microbiopsy. Mitochondrial DNA testing (PGT-MT) and chromosomal aneuploidy (PGT-A) analyses were carried out after whole-genome amplification, and the embryos with zero mutation load were selected for transfer. Amniotic fluid and umbilical cord blood samples were collected during middle pregnancy and after birth respectively for mitochondrial DNA testing to verify the reliability of embryo screening. As an attempt, PB1 with good morphology of MII oocytes was selected for transfer into the enucleated oocytoplasm from healthy donors, followed by ICSI fertilization, blastocyst culture and PGT of embryos using the same procedure. This study has been approved by the Ethics Committee of the First Affiliated Hospital of Anhui Medical University (No. 2021zhyx-B12). RESULTS: An antagonist protocol was used for ovarian stimulation, and a total of 19 oocytes were obtained, of which 14 MII were fertilized by ICSI, and 2 had developed into blastocysts. PGT-MT was carried out on biopsied trophoblastocytes, in which the mitochondrial DNA 8993T>G mutation load was not detected in one embryo, the other was 100% mutated, and the mutation loads of the remaining unfertilized eggs and developmentally arrested embryos ranged from 0% ~ 100%, presenting a clear biased distribution. With fully informed consent, one PGT-MT zero mutation load blastocyst was transferred and clinical pregnancy was achieved. Mitochondrial DNA and chromosomal testing of amniotic fluid cells during middle pregnancy had revealed no abnormalities. The proband had delivered a healthy boy through Caesarean section at 39⁺⁵ weeks of gestation, and no mutation was detected in the cord blood sample. Five well-formed PBs from 14 eggs were selected for PB1 transfer, followed by ICSI and culture, and two of the reconstituted embryos had formed blastocysts, with none of the above mutations detected in the biopsied samples. CONCLUSION The PGT-MT technology can help families affected with mitochondrial diseases to have healthy offspring. PB1 transfer in combination with ICSI and PGT-MT holds the promise of turning waste into treasure and providing an alternative means of fertility for such families.
Humans ; Preimplantation Diagnosis/methods* ; Female ; DNA, Mitochondrial/genetics* ; Genetic Testing/methods* ; Pregnancy ; Mitochondrial Diseases/genetics* ; Polar Bodies ; Adult ; Feasibility Studies ; Sperm Injections, Intracytoplasmic/methods* ; Embryo Transfer/methods* ; Mutation ; Male ; Blastocyst/metabolism* ; Pedigree

Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.

Objective:To assess the feasibility of first polar body transfer (PB1T) combined with preimplantation mitochondrial genetic testing for blocking the transmission of a pathogenic mitochondrial DNA 8993T>G mutation.Methods:A Chinese family affected with Leigh syndrome which had attended the Reproductive Medicine Centre of the First Affiliated Hospital of Anhui Medical University in September 2021 was selected as the study subject. Controlled ovarian hyperstimulation was carried out for the proband after completing the detection of the mitochondrial DNA 8993T>G mutation load among the pedigree members. Mature MII oocytes were inseminated by intracytoplasmic sperm injection (ICSI), cultured in vitro for 5 to 6 days to the blastocyst stage, and trophoblastocytes were obtained by microbiopsy. Mitochondrial DNA testing (PGT-MT) and chromosomal aneuploidy (PGT-A) analyses were carried out after whole-genome amplification, and the embryos with zero mutation load were selected for transfer. Amniotic fluid and umbilical cord blood samples were collected during middle pregnancy and after birth respectively for mitochondrial DNA testing to verify the reliability of embryo screening. As an attempt, PB1 with good morphology of MⅡ oocytes was selected for transfer into the enucleated oocytoplasm from healthy donors, followed by ICSI fertilization, blastocyst culture and PGT of embryos using the same procedure. This study has been approved by the Ethics Committee of the First Affiliated Hospital of Anhui Medical University (No. 2021zhyx-B12). Results:An antagonist protocol was used for ovarian stimulation, and a total of 19 oocytes were obtained, of which 14 MⅡ were fertilized by ICSI, and 2 had developed into blastocysts. PGT-MT was carried out on biopsied trophoblastocytes, in which the mitochondrial DNA 8993T>G mutation load was not detected in one embryo, the other was 100% mutated, and the mutation loads of the remaining unfertilized eggs and developmentally arrested embryos ranged from 0% ~ 100%, presenting a clear biased distribution. With fully informed consent, one PGT-MT zero mutation load blastocyst was transferred and clinical pregnancy was achieved. Mitochondrial DNA and chromosomal testing of amniotic fluid cells during middle pregnancy had revealed no abnormalities. The proband had delivered a healthy boy through Caesarean section at 39+ 5 weeks of gestation, and no mutation was detected in the cord blood sample. Five well-formed PBs from 14 eggs were selected for PB1 transfer, followed by ICSI and culture, and two of the reconstituted embryos had formed blastocysts, with none of the above mutations detected in the biopsied samples.Conclusion:The PGT-MT technology can help families affected with mitochondrial diseases to have healthy offspring. PB1 transfer in combination with ICSI and PGT-MT holds the promise of turning waste into treasure and providing an alternative means of fertility for such families.

Objective:To investigate the clinical efficacy of minimally invasive double anchoring combined with percutaneous kyphoplasty (PKP) for Kümmell disease.Methods:The clinical data of 24 patients with Kümmell disease who were treated with minimally invasive double anchoring combined with PKP in Cangzhou People's Hospital from October 2022 to March 2024 were retrospectively analyzed. Among them, there were 2 T 10 vertebrae, 5 T 11 vertebrae, 7 T 12 vertebrae, 6 L 1 vertebrae, and 4 L 2 vertebrae. There were 6 males and 18 females. The average age was 72.05±4.52 years (range, 66-80 years). The bone mineral density T value was -3.41±0.77 (range, -2.5-4.5). The stages of Li's Kümmell disease included 13 cases of stage II and 11 cases of stage III. The operation time, intraoperative blood loss, and volume of bone cement injected were recorded. The vertebral index, vertebral angle and Cobb angle of diseased segment were measured before and after operation. The visual analogue scale (VAS) was used to assess the degree of pain, the Oswestry disability index (ODI) and the Japanese Orthopaedic Association (JOA) low back pain scale were used to assess spinal function. The Medical Outcome Study short form 36 item health survey (SF-36) was used to assess the general health status of the patients. The postoperative symptom recovery was evaluated by Odom criteria. Results:The mean operative time of the 24 patients was 35.32±6.86 min, the injected volume of bone cement was 4.39±1.72 ml, and the intraoperative blood loss was 16.56±5.21 ml. All patients were followed up for 10 to 14 months, with an average of 11.7 months. Postoperative CT examination showed that the screw positions were satisfactory, and no loosening or displacement of bone cement mass occurred. On the first day after surgery, the vertebral body index, vertebral body angle and Cobb angle of diseased segment were 77.71%±2.75%, 12.40°±1.53° and 25.77°±4.49°, respectively, which represented significant improvements from the preoperative values of 43.09%±5.66%, 22.12°±2.92° and 46.98°±5.68° before surgery ( P<0.05). At the last follow-up, the values were 76.18%±2.32%, 12.41°±2.53°, 26.14°±4.87°, respectively, which were significantly improved compared with those before surgery ( P<0.05), but there was no statistical significance compared with the first day after surgery ( P>0.05). The VAS, ODI and JOA scores on the first day after surgery were 2.11±0.87 points, 22.46±5.49 points and 27.68±2.45 points, respectively, which were significantly improved compared with those before surgery 7.50±0.98 points, 76.25±8.56 points and 14.96±4.91 points ( P<0.05). At the last follow-up, the values were 2.26±0.88, 23.87±3.25 and 26.58±2.77, respectively, which were significantly improved compared with those before surgery ( P<0.05), and there was no statistical significance compared with the first day after surgery ( P>0.05). All 24 patients completed SF-36 scale assessment, and the results showed that there were statistically significant differences in physiological function, physiological role, physical pain, general health status, social function scores and mental health between the patients before surgery and the last follow-up ( P<0.05), while there were no statistically significant differences in vitality and emotional function ( P>0.05). At the last follow-up, the Odom criteria showed excellent results in 18 cases, good in 4 cases, and fair in 2 cases. Conclusions:The application of minimally invasive double anchoring (single nail fixation) combined with PKP in the treatment of Kümmell disease can effectively prevent the loosening and displacement of bone cement masses, and the fixation effect is satisfactory, which can restore the height of the injured vertebrum, reduce kyphosis and improve spinal function. The clinical symptoms of the patients were significantly improved, and the quality of life was enhanced.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective:To compare the safety and efficacy of novel en-bloc Holmium laser enucleation of the prostate（HoLEP）with complete membranous urethral mucosa sparing technique with traditional 2-lobe technique HoLEP in benign prostatic hyperplasia（BPH）treatment.Methods:The data of BPH patients treated with HoLEP from January 2023 to May 2024 in Xinhua Hospital，School of Medicine，Shanghai Jiaotong University were retrospectively reviewed. Seventy-two patients received novel en-bloc HoLEP with complete membranous urethral mucosa sparing technique（novel en-bloc group），while 79 patients received traditional 2-lobe technique HoLEP（traditional 2-lobe technique group）.There was no significant difference between novel en-bloc group and traditional 2-lobe technique group in the age［（71.0 ± 7.1）years vs.（69.8 ± 6.5）years］，body mass index［（24.5 ± 2.8）kg/m 2 vs.（23.9 ± 3.5）kg/m 2］，international prostate symptom score（IPSS）［26.0（22.0，28.0）vs. 25.0（22.0，28.0）］，quality of life（QOL）score［5.0（5.0，6.0）vs. 5.0（5.0，6.0）］，prostate sepcific antigen（PSA）［4.98（2.40，11.11）ng/ml vs. 4.38（1.62，7.54）ng/ml］and prostate volume［（74.06 ± 42.67）ml vs.（70.10 ± 33.94）ml］（all P > 0.05）. The incidence of acute urinary retention in novel en-bloc group was significantly higher than that in traditional 2-lobe technique group［31.94%（23/72）vs. 17.72%（14/79）， P = 0.042］.The procedure of novel en-bloc was shown as followed：expose the prostatic capsule near the verumontanum and expand the initial capsule plane on both sides. The prostatic urethral mucosa was cut off in a circular pattern medial to the external urethral sphincter，which could form a complete “circular mucosal pad”. Seperate the apical gland along the capsule plane at 12 o’clock and expand the capsule plane until the bladder neck was reached.The bladder neck was then used as a marker so as to separate the glands on both sides along the capsule plane and merge with the initial plane. The entire lobe of the prostate was finally removed along the surgical capsule of the prostate. The procedure of traditional two lobe method was shown as followed：expose the prostatic capsule near the verumontanum and then divide the prostate into two lobes by longitudinal incision at 6 and 12 o’clock. The mucosa was horizontally cut at 12 o’clock，medial to the external urethral sphincter in order to preserve the apical urethral mucosal flap. The twp lobes were then removedd respectively along the capsule layer. The surgery-related indicators，perioperative complications and other data were compared between the two groups，as well as IPSS，QOL score，lower urinary tract symptoms，and the incidence of stress urinary incontinence in the two groups 1 month after surgery. Results:Compared with the patients underwent 2-lobe technique HoLEP，the patients underwent novel en-bloc HoLEP had lower hemoglobin loss［0.50（-5.50，7.50）g/L vs. 7.00（1.00，13.25）g/L， P = 0.003］，lower operation time［（72.06 ± 34.37）min vs.（85.42 ± 40.35）min， P = 0.030］，higher surgical efficacy［（0.72 ± 0.31）g/min vs.（0.55 ± 0.29）g/min， P = 0.002］and lower incidence of stress urinary incontinence one month after operation［2.78%（2/72）vs. 10.13%（8/79）， P = 0.070］. There was no significant difference in the incidence of postoperative gross hematuria［0 vs. 2.53%（2/79）］，postoperative sepsis［1.39%（1/72）vs. 1.27%（1/79）］，postoperative dysuria［4.17%（3/72）vs. 5.06%（4/79）］，postoperative IPSS improvement［12.0（11.0，13.0）vs. 12.0（10.0，14.0）］and postoperative QOL improvement［3.0（2.0，3.0）vs. 3.0（2.0，3.0）］between the two groups（ P > 0.05）. The patients were further divided into 2 sub-groups according to whether prostate volume ≥ 60 ml or not. In the patients of prostate volume < 60 ml，surgical efficacy was significantly higher in novel en-bloc HoLEP group than that in traditional 2-lobe technique group［（0.55 ± 0.25）g/min vs.（0.41 ± 0.19）g/min， P = 0.028］. In the patients of prostate volume ≥ 60 ml，the surgical efficacy of novel en-bloc HoLEP was also higher［（0.88 ± 0.28）g/min vs.（0.66 ± 0.31）g/min， P = 0.006］. Conclusions:Novel en-bloc HoLEP with complete membranous urethral mucosa sparing technique was demonstrated to has lower blood loss，shorter operation time，higher surgical efficacy and lower incidence of stress urinary incontinence，which is suitable of all sizes of prostate.