OBJECTIVE: The aim of this study is to analyze the clinical features and genetic etiology of a patient with multiple morphological abnormalities of the sperm flagella (MMAF) retrospectively. METHODS: A severely oligospermic patient from the Reproductive Center of the First Affiliated Hospital of Ningbo University was selected as the study subject. Clinical data and examination results were collected. High-throughput sequencing and bioinformatics were used to analyze the genetic etiology. And Sanger sequencing was employed to validate findings in the family. Transmission electron microscopy (TEM) was used to observe the sperm ultrastructure, and immunofluorescence analysis was performed to examine the localization of FSIP2 protein in the sperm. RESULTS: The patient presented with severe oligospermia, and sperm morphology displayed MMAF. TEM revealed fibrous sheath and 9+2 microtubule structural disruptions in the sperm. Sequencing identified compound heterozygous variants in the FSIP2 gene (c.17798C > T, c.5927T > G), inherited from the father and mother, respectively. According to the guidelines of the American College of Medical Genetics and Genomics, the variants were classified as pathogenic. The patient's spouse underwent intracytoplasmic single sperm injection, resulting in one embryo, but no clinical pregnancy occurred after embryo transfer. CONCLUSION This study reported the mutation of FSIP2 gene c.17798C > T, c.5927T > G in a patient with MMAF. These findings expand the mutational spectrum of the FSIP2 gene and provide insights for genetic and assisted reproductive counseling for patients with MMAF.
Humans ; Male ; Sperm Tail/pathology* ; Heterozygote ; Oligospermia/genetics* ; Spermatozoa ; Mutation ; Infertility, Male/genetics* ; Adult ; Pedigree ; Retrospective Studies ; Sperm Injections, Intracytoplasmic

Objective:To analyze the epidemiological and clinical characteristics of pertussis cases identified through active surveillance.Methods:Active surveillance for pertussis was conducted in three sentinel hospitals in Yiwu, Zhejiang Province, and Yongcheng, Henan Province. The study population included cases that met the surveillance case definition and sought medical care at outpatient/emergency departments or were hospitalized between June 1, 2021, and May 31, 2022. Samples were collected for bacterial culture and PCR detection. Case information and clinical data were collected. Differences in rates were assessed using the chi-square test or Fisher's exact probability test, and the differences in cough time were compared using the Mann-Whitney U test. Results:Among 1 423 cases of pertussis surveillance, the positive rate of pertussis was 28.11% (400/1 423), with a median age of 5 years (interquartile range: 2, 8). The positive rate in Yongcheng, Henan Province, and Yiwu, Zhejiang Province were 39.27% (216/550) and 21.08% (184/873), respectively; the positive rate of pertussis was highest in July 2021, and the highest positive rate of pertussis was among those aged 10-14. The positive rate of pertussis in hospitalized cases was higher than in outpatient/emergency cases (26.68%) ( χ2=4.16, P=0.041). Among the 400 laboratory test-positive cases, the highest proportion of atypical symptom cases was in adults aged 20-59 (43.33%, 13/30). The specificity rates of apnea and worsening nocturnal cough in monitored cases under 3 months of age were 100.00% and 73.81%, respectively. Among monitored cases aged 3 months to 9 years, the proportions of symptoms including worsening nighttime cough (63.00%) and night sweats (4.59%) in test-positive cases were significantly higher than those in the test-negative group (47.77% and 0.56%, respectively), with statistically significant differences (both P<0.05). The specificity rates of worsened nighttime coughing and night sweats were 52.23% and 99.44%, respectively. Conclusions:The active surveillance results for pertussis showed that the 10-14 age group exhibited the highest positivity rate. Active surveillance enhanced the detection rate of pertussis. Among laboratory-confirmed cases, the proportion of atypical symptoms was the highest in adults, suggesting that laboratory testing should be combined to diagnose programs of pertussis. For infants under 3 months, worsening nighttime cough and apnea increase the diagnostic specificity, while for individuals aged 3 to 9 years old, worsening nighttime cough and night sweats increase the diagnostic specificity.

Objective:To explore the effects of a tiered-categorized-integrated training model in standardized neurology residency training.Methods:This controlled before-and-after study enrolled 109 residents who rotated in the Department of Neurology of Renji Hospital of Shanghai Jiao Tong University School of Medicine from January 2023 to June 2024. Among them, 43 residents from January to July 2023 were assigned to control group to receive the traditional training model, while 66 residents from August 2023 to June 2024 were assigned to observation group to follow the competency-oriented tiered-categorized-integrated training protocol. In the observation group, the residents were categorized into neurology specialty and non-neurology specialty groups to follow a competency-based hierarchical and progressive training approach with systematical optimization and resource integration in terms of faculty allocation, training activities, and assessment evaluations. The effectiveness of the models was evaluated through semi-annual assessments (for neurology specialty), routine assessments and end-of-rotation assessments (for non-neurology specialty), and 360-degree evaluations. SPSS 26.0 was used to perform chi-square tests and t-tests. Results:The non-neurology specialty residents in the observation group significantly outperformed the control group in the total score of end-of-rotation assessments [(90.93±4.21) vs. (86.08±8.98), P=0.004], theoretical examinations [(16.47±2.47) vs. (13.55±5.34), P=0.003], clinical skills [(9.32±0.47) vs. (9.00±0.58), P=0.004], and case analysis [(86.75±5.95) vs. (82.64±11.20), P=0.047]. The neurology specialty residents in the observation group showed a significantly higher physical examination score than the control group [(87.50±8.66) vs. (75.00±8.17), P=0.040]. Furthermore, in the 360-degree evaluation, the observation group exhibited better performance in certain assessment indicators of core competencies, including professional ability, patient management, professionalism, and communication and cooperation ( P<0.05). Conclusions:The tiered-categorized-integrated training model helps residents to better grasp basic knowledge and skills in rotations, and also enhances their core competencies such as professional ability, patient management, and communication and cooperation. This model provides a replicable practical solution for clinical departments to achieve efficient and precise rotation management within the constraints of limited resources.

Acute pancreatitis (AP) is a severe inflammatory disease characterized by self-digestion of pancreatic tissue and inflammatory responses. Recent studies have revealed a close connection between gut microbiota and AP. The gut microbiota community, a complex ecosystem composed of trillions of microorganisms, is closely associated with various physiological activities of the host, including metabolic processes, immune system regulation, and intestinal structure maintenance. However, in patients with AP, dysbiosis of the gut microbiota are believed to play a key role in the occurrence and progression of the disease. This dysbiosis not only impairs the integrity of the intestinal barrier, but may also exacerbate inflammatory responses through multiple mechanisms, thereby affecting the severity of the disease and patient' clinical prognosis. This article reviews the mechanisms of action of gut microbiota in AP, explores how gut microbiota dysbiosis affects disease progression, and evaluates current clinical treatment methods to regulate intestinal flora, including probiotic supplementation, fecal microbiota transplantation, antibiotic therapy, and early enteral nutrition. In addition, this article discusses the efficacy and safety of the aforementioned therapeutic approaches, and outlines future research directions, aiming to provide novel perspectives and strategies for the diagnosis, treatment and prognostic evaluation of AP. Through in-depth understanding the interaction between gut microbiota and AP, it is expected that more precise and personalized therapeutic regimens will be developed to improve patients' quality of life and clinical outcomes.
Humans ; Gastrointestinal Microbiome ; Dysbiosis ; Pancreatitis/microbiology* ; Fecal Microbiota Transplantation ; Probiotics/therapeutic use* ; Acute Disease ; Anti-Bacterial Agents/therapeutic use* ; Enteral Nutrition

This study was aimed at developing an in vitro fluorescent substrate assay for the activity of leucyl aminopeptid-ase(LAP)from Echinococcus multilocularis and comparing it with the chemical chromogenic substrate enzyme activity assay.Through the establishment of reaction conditions for the fluorescent substrate-based in vitro enzyme activity assay,we com-pared the differences between the fluorescent substrate L-Leucine-7-amido-4-methylocoumarin(Leu-AMC)and the chemical chromogenic substrate L-Leucine-4-nitroanilide(Leu-pNA)through molecular docking,inhibition rates,and precision measures.Molecular docking revealed that the fluorescent substrate Leu-AMC had higher affinity for the protein than the chemical chromogenic substrate Leu-pNA.Through analysis of the effects of varying reaction conditions on fluorescence intensi-ty,we optimized the fluorescent substrate enzyme activity assay to demonstrate favorable performance at a reaction temperature of 37℃,a pH of 9.0,a protein concentration of 800 nmol/L,and a reaction duration of 60 minutes.Leu-AMC exhibited significant and distinct responses at a 5 μmol/L substrate concentration,under varying substrate conditions.The fluo-rescent substrate assay demonstrated more significant intergroup differences than the chemical chromogenic substrate assay when various inhibitors were added.This study established a fluorescence-based enzyme activity assay for leucyl aminopeptidase from Echinococcus multilocularis by using Leu-AMC as the substrate;this method demonstrated a more significant intergroup difference and sensitivity than the chemical chromogenic substrate assay.

Objective:To explore the value of magnetic resonance examination in distinguishing invasive and non-invasive pancreatic solid pseudopapillary neoplasms (SPN).Methods:The clinical and MRI data of 167 patients with SPN who underwent surgery and were pathologically diagnosed at Zhongshan Hospital ,Fudan University from Oct 2013 to Oct 2023 were retrospectively analyzed.Results:There was no statistically significant difference between invasive and non-invasive SPN in terms of age, gender, clinical symptoms, laboratory tests, location, growth pattern, tumor size, relationship with the pancreas, bleeding, and pancreatic duct dilation ( P>0.05). However, there were statistically significant differences between the two groups in terms of tumor morphology, margins, capsule, cystic solid ratio, pancreatic atrophy, enhancement pattern, and enhancement features ( P<0.05). The area under the ROC curve for the combined indicators (tumor morphology, margins, capsule, cystic solid ratio, and pancreatic atrophy) was 0.679 (95% CI: 0.594-0.764), with a sensitivity of 73.7% and specificity of 70.9%. Conclusion:Magnetic resonance examination is helpful in distinguishing invasive and non-invasive pancreatic solid pseudopapillary neoplasms.

Objective To investigate the presumed correlation between lactate level and clearance during extracorporeal life support(ECLS)and death in elderly cardiac intensive care patients.Methods A total of 93 elderly cardiac intensive care patients who received ECLS in Department of Critical Care Medicine,Xiangya Medical College Affiliated Changsha Hospital,Central South University,from March 2019 to October 2024 were retrospectively included to manage low cardiac production syndrome after major cardiac surgery.According to hospital outcomes,the patients were divided into a death group(n=45)and a survival group(n=48).Blood lactate measurements were performed every 4 hours from the beginning of ECLS treatment to calculate peak lactate and lactate clearance rate(LCR).Routine ICU scores,such as sequential organ failure score(SOFA)and reactive organ dysfunction(ROD)score,and postoperative complications were recorded.Results The death group received larger amounts of packed red blood cell concentrate,fresh frozen plasma and platelet concentrate,and exhibited higher ratios of norepinephrine and epinephrine administration and higher incidences of re-thoracotomy and hemolytic episodes when compared with the survival group(P＜0.05,P＜0.01).At the end of ECLS,higher SOFA and ROD scores were observed in the death group(P＜0.01).The death group also demonstrated higher lactate level from venoarterial ECLS(P＜0.001)and increased median peak lactate level,but lower median LCR than the survival group(P＜0.01).Multivariate logistic analysis showed that peak lactate and LCR were independent prognostic factors in the elderly cardiac ICU patients(P＜0.05,P＜0.01).The AUC value(95％CI)of peak lactate and LCR in predicting patient outcomes was 0.723(95％CI:0.615-0.831)and 0.846(95％CI:0.761-0.932),respectively,and the value of their combination in predicting in-hospital death was 0.846(95％CI:0.762-0.931),with a sensitivity of 0.629 and a specificity of 0.937.Conclusion Lactate level and its clearance rate during ECLS can affect the survival rate of elderly cardiac intensive care patients.Peak lactate and LCR can predict the prognosis of elderly cardiac intensive care patients,and can be used as prognostic indicators for clinical monitoring.

Objective By analyzing the current status and challenges of electronic medical record(EMR)system construction in medical institutions in Shanghai,it proposes targeted optimization strategies to provide references for advancing hospital informatization centered on EMR systems.Methods A random sampling method was employed to survey 54 secondary and tertiary medical institutions in Shanghai that have implemented EMR systems.Key informant interviews were also conducted to examine the current status and major issues in EMR system development.Results The development of EMR systems in Shanghai's medical institutions has progressed steadily,with continuous improvements in smart hospital development.However,challenges such as incomplete functionalities,limited application scope,and substandard data quality persist.Conclusion Further optimization of EMR system construction should focus on quality control standards,platform development,training and promotion efforts,and independent development capabilities to enhance its role as a robust tool for improving healthcare quality and efficiency.

Objective:To develop a deep learning-based segmentation model MT-UNet to automatically segment bone metastases and benign bone lesions in bone scintigraphy with SPECT/CT.Methods:A total of 93 patients (48 males and 45 females, age 28-84 years) who underwent bone SPECT/CT in the Department of Nuclear Medicine, General Hospital of Northern Theater Command from June 2023 to December 2023 were enrolled retrospectively in this study, with a total of 184 bone lesions (94 benign lesions and 90 metastatic tumors). The MT-UNet was employed to segment bone lesions in SPECT, CT and SPECT/CT images respectively. Comparative analysis with 8 segmentation models was performed. The training set and validation set were divided by using 5-fold cross-validation and transfer learning was introduced to further enhance the robustness of the model. An additional cohort of 22 patients (15 males and 7 females, age 37-87 years) who received bone SPECT/CT in the Department of Nuclear Medicine, General Hospital of Northern Theater Command from April 2023 to May 2023 were included, comprising 40 bone lesions (22 benign lesions and 18 metastatic tumors) as the test set of MT-UNet. Segmentation performance of different models was assessed using accuracy, sensitivity, specificity, AUC, intersection over union and Dice similarity coefficient (DSC). Delong test was used to compare the segmentation efficacy among different models in the test set.Results:In the validation set, MT-UNet demonstrated DSC of 0.940, 0.962, and 0.963 for SPECT, CT, and SPECT/CT bone lesion segmentation, respectively, which were outperformed other models. Following transfer learning implementation, the SPECT/CT model′s DSC was improved to 0.984. In the test set, MT-UNet maintained comparable segmentation performance to the validation set, with significant AUC differences among the three models ( Z values: from -15.42 to -9.27, all P<0.01). Compared with conventional image interpretation, MT-UNet-based segmentation reduced physician interpretation time from 164min to 102min. Conclusion:MT-UNet has shown good performance in automatic segmentation of bone metastases and benign bone lesions, and is expected to become an important part of SPECT/CT image intelligent diagnosis system for bone metastases.

Objective:To establish a set of dynamic definition methods and key operational techniques for community pediatric services contents within the framework of an integrated children health services model.Methods:This was a cross-sectional study. From December 2023 to June 2024, a study was conducted at the Shanghai Gumei Community Health Service Center. The study was divided into three phases: identifying the health needs of community children (Phase A), developing the service content and methods for community children (Phase B), and establishing a community children service network (Phase C). A variety of methods, including questionnaires and focus group interviews, were comprehensively employed in each phase to develop the ABC demand network and its construction approach for community children, and to establish a networked service system.Results:A total of 512 questionnaires were distributed in Phase A, of which 499 were returned for an effective recovery rate of 97.5%. Of the parents, 488 (97.8%, 488/499) would actively seek information related to children′s health. Of those parents, 90.6% (452/499), 80.8% (403/499), and 71.9% (359/499) expressed concern about their children′s growth and development, mental health and social adaptation, and the prevention and treatment of common, frequently occurring diseases, respectively. The research clarified the health needs of children in the community and the health issues of children in different age groups. This included the mental health and social adaptation of community children, as well as common and frequently occurring diseases. The study also revealed a lack of mental health and social adaptation's services for children in the community. After sorting the community′s services into categories such as children′s growth and development detection, diagnosis and treatment of common diseases, and planned immunizations, and establishing corresponding service methods, it was found that Gumei community Health Service Center had strong diagnostic service capabilities for children aged 0-3 and 4-6, but need improved for children aged 7-12 and 13-15. At the same time, a service network consisting of five major categories, represented by medical alliances, has been established to address unmet needs in diagnosis and rehabilitation care for mental health and social adaptation, as well as major diseases.Conclusions:The study has developed an ABC demand network and its construction method for community children. It provides new ideas for defining the content of community pediatric services and establishing supporting methods, and it offers a practical basis for the constructing a community pediatric service system.