OBJECTIVE: To analyze a patient with infertility due to complex chromosome rearrangement by optical genome mapping (OGM). METHODS: A female patient who was diagnosed with "primary infertility" at Shenzhen Longhua District Maternal and Child Health Care Hospital in April 2024 was selected as the study subject. Clinical data of the patient was collected. Chromosome G banding karyotyping analysis was carried out for the patient and her parents, in addition with OGM and copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2023052504). RESULTS: The patient, a 33-year-old female, had infertility for the past 5 years. OGM revealed formation of two derivative chromosomes through rearrangement of chromosomes 5 and 18. A loss of heterozygosity on chromosome 5 was also detected by OGM and CNV-seq techniques. Both of her parents had a normal karyotype. CONCLUSION The OGM technique can refine the position of chromosomal breakpoints and determine the direction and position of insertional fragment. Combined with karyotype analysis, the OGM can accurately determine the chromosomal karyotype of the patient and facilitate genetic counseling.
Humans ; Female ; Adult ; Karyotyping ; DNA Copy Number Variations/genetics* ; Chromosome Mapping/methods* ; Chromosome Aberrations ; Infertility, Female/diagnosis*

Objective To develop an enteral nutrition delivery device for nasal feeding patients to relieve gastrointestinal discomfort during enteral nutrition therapy and solve the problems in heating,quality preservation and constant temperature maintenance of the solution.Methods The enteral nutrition delivery device was mainly composed of a nasal feeding container,a fixing frame,a limiting trough,a heating wire,a temperature control unit and a speed control unit.The heating wire and temperature and speed control units were combined to facilitate the nasogastric solution in the container to be delivered to the patient's stomach and intestines at a constant temperature and a uniform speed.The device developed had its shell made of 304 waterproof stainless steel and the nasal feeding container made of 05-polypropylene.Results The device developed realized constant-temperature and uniform-speed delivery and auto cleaning,and could reduced effectively gastrointestinal adverse reactions during nasal feeding.Conclusion The device developed gains advantages in easy operation and autonomous feeding,and thus is worth promoting for nasal feeding patients clinically.[Chinese Medical Equipment Journal,2025,46(2):108-111]

Hearing loss is the most prevalent disabling disease. Cochlear implantation（CI） serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system（Favorable, Marginal, Poor）. The consensus focuses on common hereditary non-syndromic hearing loss（such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1） and syndromic hereditary hearing loss（such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome）, which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans ; Cochlear Implantation ; Prognosis ; Hearing Loss/surgery* ; Consensus ; Connexin 26 ; Mutation ; Sulfate Transporters ; Connexins/genetics*

Objective:To determine the epidemiological characteristics of human bocavirus (HBoV) in children with acute respiratory infections (ARI) in Bengbu City, Anhui Province, in 2024.Methods:Nasopharyngeal swab samples were collected from 269 children with ARI in Bengbu City, Anhui Province, in 2024. Seventeen respiratory pathogens were screened using quantitative fluorescence PCR. For HBoV-positive samples, the VP1/VP2 structural gene fragments of HBoV were amplified and sequenced for genetic evolutionary analysis.Results:Among the 269 nasopharyngeal swab samples from children with ARI, the overall detection rate of respiratory pathogens was 48.33% (103/269). The top three pathogens with the highest detection rates were: Influenza A virus (FluA): 10.04% (27/269), Respiratory syncytial virus (RSV): 8.18% (22/269), Human bocavirus (HBoV): 7.43% (20/269). The age distribution of HBoV-infected children showed that the detection rate was highest in the 0-2 years age group (50%, 10/20), followed by the 3-5 years age group (25%, 5/20) and the over 6 years age group (25%, 5/20). However, there was no statistically significant difference in viral detection rates among the age groups. Genetic evolutionary analysis based on VP1/VP2 revealed that all 13 HBoV strains were of the HBoV-1 genotype.Conclusions:HBoV is one of the major pathogens causing ARI in children in Bengbu City, Anhui Province, in 2024, with HBoV-1 being the predominant genotype. Additionally, infants aged 0-2 years are the most susceptible population to HBoV infection.

Objective:To analyze a patient with infertility due to complex chromosome rearrangement by optical genome mapping (OGM).Methods:A female patient who was diagnosed with " primary infertility" at Shenzhen Longhua District Maternal and Child Health Care Hospital in April 2024 was selected as the study subject. Clinical data of the patient was collected. Chromosomal G banding karyotyping analysis was carried out for the patients and her parents, in addition with OGM and copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2023052504).Results:The patient, a 33-year-old female, had infertility for the past 5 years. OGM revealed formation of two derivative chromosomes through rearrangement of chromosomal 5 and 18. A loss of heterozygosity on chromosome 5 was also detected by OGM and CNV-seq techniques. Both of her parents had a normal karyotype.Conclusion:The OGM technique can refine the position of chromosome breakpoints and determine the direction and position of insertional fragment. Combined with karyotype analysis, the OGM can accurately determine the chromosomal karyotype of the patient and facilitate genetic counseling.

Pelvic organ prolapse (POP), whose etiology is influenced by genetic and clinical risk factors, considerably impacts women's quality of life. However, the genetic underpinnings in non-European populations and comprehensive risk models integrating genetic and clinical factors remain underexplored. This study constructed the first polygenic risk score (PRS) for POP in the Chinese population by utilizing 20 disease-associated variants from the largest existing genome-wide association study. We analyzed a discovery cohort of 576 cases and 623 controls and a validation cohort of 264 cases and 200 controls. Results showed that the case group exhibited a significantly higher PRS than the control group. Moreover, the odds ratio of the top 10% risk group was 2.6 times higher than that of the bottom 10%. A high PRS was significantly correlated with POP occurrence in women older than 50 years old and in those with one or no childbirths. As far as we know, the integrated prediction model, which combined PRS and clinical risk factors, demonstrated better predictive accuracy than other existing PRS models. This combined risk assessment model serves as a robust tool for POP risk prediction and stratification, thereby offering insights into individualized preventive measures and treatment strategies in future clinical practice.
Humans ; Female ; Pelvic Organ Prolapse/epidemiology* ; Middle Aged ; Risk Assessment/methods* ; China/epidemiology* ; Multifactorial Inheritance ; Aged ; Risk Factors ; Genome-Wide Association Study ; Genetic Predisposition to Disease ; Case-Control Studies ; Adult ; Polymorphism, Single Nucleotide ; Genetic Risk Score ; East Asian People

OBJECTIVE: This study aimed to explore the association between body mass index (BMI) and mortality based on the 10-year population-based multicenter prospective study. METHODS: A general population-based multicenter prospective study was conducted at four sites in rural China between 2013 and 2023. Multivariate Cox proportional hazards models and restricted cubic spline analyses were used to assess the association between BMI and mortality. Stratified analyses were performed based on the individual characteristics of the participants. RESULTS: Overall, 19,107 participants with a sum of 163,095 person-years were included and 1,910 participants died. The underweight (< 18.5 kg/m ²) presented an increase in all-cause mortality (adjusted hazards ratio [ aHR] = 2.00, 95% confidence interval [ CI]: 1.66-2.41), while overweight (≥ 24.0 to < 28.0 kg/m ²) and obesity (≥ 28.0 kg/m ²) presented a decrease with an aHR of 0.61 (95% CI: 0.52-0.73) and 0.51 (95% CI: 0.37-0.70), respectively. Overweight ( aHR = 0.76, 95% CI: 0.67-0.86) and mild obesity ( aHR = 0.72, 95% CI: 0.59-0.87) had a positive impact on mortality in people older than 60 years. All-cause mortality decreased rapidly until reaching a BMI of 25.7 kg/m ² ( aHR = 0.95, 95% CI: 0.92-0.98) and increased slightly above that value, indicating a U-shaped association. The beneficial impact of being overweight on mortality was robust in most subgroups and sensitivity analyses. CONCLUSION This study provides additional evidence that overweight and mild obesity may be inversely related to the risk of death in individuals older than 60 years. Therefore, it is essential to consider age differences when formulating health and weight management strategies.
Humans ; Body Mass Index ; China/epidemiology* ; Male ; Female ; Middle Aged ; Prospective Studies ; Rural Population/statistics & numerical data* ; Aged ; Follow-Up Studies ; Adult ; Mortality ; Cause of Death ; Obesity/mortality* ; Overweight/mortality*

Objective To analyze the risk factors for acute kidney injury(AKI)in patients with acute non-variceal upper gastrointestinal bleeding(ANVUGIB)and establish a prediction model.Methods A total of 286 ANVUGIB patients admitted to our hospital from August 2021 to August 2024 were enrolled.Patients were divided into an observation group(with AKI,n=43)and a control group(without AKI,n=243).The influencing factors for AKI in ANVUGIB patients were analyzed,and a nomogram prediction model was con-structed to evaluate its predictive efficacy.Results Among 286 ANVUGIB patients,43 cases(15.03%)de-veloped AKI.Logistic regression analysis showed that platelet count had no significant effect on AKI compli-cation in ANVUGIB(P>0.05).Hemoglobin,albumin,and sodium were independent protective factors for AKI complication(P<0.05),while comorbid coronary heart disease,bleeding volume,blood transfusion,and risk grade were independent risk factors(P<0.05).The nomogram prediction model for AKI complication in ANVUGIB demonstrated good fit in the Hosmer-Lemeshow test.ROC curve analysis revealed an AUC of 0.908(95%CI:0.868 to 0.939),with a sensitivity of 83.72%and specificity of 84.77%.The calibration curve showed a Brier score of 0.075 and calibration slope of 0.808,indicating good calibration.Conclusion Comorbid coro-nary heart disease,bleeding volume,blood transfusion,risk grade,hemoglobin,albumin,and sodium are signif-icant influencing factors for AKI complication in ANVUGIB.The nomogram model based on these factors shows favorable predictive performance and serves as a reliable tool for AKI risk stratification in ANVUGIB patients,supporting early clinical intervention decisions.

Objective To develop an enteral nutrition delivery device for nasal feeding patients to relieve gastrointestinal discomfort during enteral nutrition therapy and solve the problems in heating,quality preservation and constant temperature maintenance of the solution.Methods The enteral nutrition delivery device was mainly composed of a nasal feeding container,a fixing frame,a limiting trough,a heating wire,a temperature control unit and a speed control unit.The heating wire and temperature and speed control units were combined to facilitate the nasogastric solution in the container to be delivered to the patient's stomach and intestines at a constant temperature and a uniform speed.The device developed had its shell made of 304 waterproof stainless steel and the nasal feeding container made of 05-polypropylene.Results The device developed realized constant-temperature and uniform-speed delivery and auto cleaning,and could reduced effectively gastrointestinal adverse reactions during nasal feeding.Conclusion The device developed gains advantages in easy operation and autonomous feeding,and thus is worth promoting for nasal feeding patients clinically.[Chinese Medical Equipment Journal,2025,46(2):108-111]

Objective:To analyze a patient with infertility due to complex chromosome rearrangement by optical genome mapping (OGM).Methods:A female patient who was diagnosed with " primary infertility" at Shenzhen Longhua District Maternal and Child Health Care Hospital in April 2024 was selected as the study subject. Clinical data of the patient was collected. Chromosomal G banding karyotyping analysis was carried out for the patients and her parents, in addition with OGM and copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2023052504).Results:The patient, a 33-year-old female, had infertility for the past 5 years. OGM revealed formation of two derivative chromosomes through rearrangement of chromosomal 5 and 18. A loss of heterozygosity on chromosome 5 was also detected by OGM and CNV-seq techniques. Both of her parents had a normal karyotype.Conclusion:The OGM technique can refine the position of chromosome breakpoints and determine the direction and position of insertional fragment. Combined with karyotype analysis, the OGM can accurately determine the chromosomal karyotype of the patient and facilitate genetic counseling.