OBJECTIVE: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. METHODS: Data were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025. Prenatal imaging findings, pregnancy outcomes, and postnatal conditions were analyzed. RESULTS: Among the 86 fetuses, complete ultrasound data were available for 65 cases. Cardiovascular abnormalities were observed in 42 cases, thymic hypoplasia or aplasia in 7 cases, urinary system anomalies in 6 cases, nuchal translucency (NT) thickening in 7 cases, butterfly vertebrae, clubfoot, omphalocele and diaphragmatic hernia in 1 case each, cleft lip and palate in 2 cases, and ultrasound soft markers in 13 cases. The parents of 9 fetuses opted to continue with the pregnancy. Among these, 6 showed no significant ultrasound abnormalities and no related phenotypes postnatally, while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay, immunodeficiency, and cardiac defects. CONCLUSION Fetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth. In addition to cardiovascular anomalies, they may also present with thymic hypoplasia or aplasia, thickened NT, and urinary abnormalities. Fetuses with thickened NT or thymic anomalies should be closely monitored, and thymic assessment should be included in routine prenatal imaging evaluations. For fetuses with 22q11.2DS who show no ultrasound abnormalities, the risk of developing severe phenotypes after birth is relatively low, but occult palate clefts and psychiatric disorders cannot be ruled out. Due to limitations in sample size and follow-up duration, above conclusions require further validation through large-scale prospective studies.
Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; DiGeorge Syndrome/genetics* ; Adult ; Male ; Follow-Up Studies ; Fetus/diagnostic imaging* ; Phenotype ; Infant, Newborn

In August 2025, the American Heart Association, American College of Cardiology, and more than ten other academic organizations jointly released an updated guideline for the prevention, detection, evaluation, and management of high blood pressure in adults. Integrating the latest clinical evidence, the new guideline reflects a risk-based approach centered on "comprehensive blood pressure control" and "lifespan management." It provides more proactive recommendations on hypertension diagnosis criteria, intensive blood pressure-lowering strategies, secondary hypertension screening, antihypertensive pharmacotherapy and device-based therapies. This updated guideline holds significant implications for refining hypertension prevention and management strategies in China.

OBJECTIVE: To investigate the steady-state mechanism of interconversion between the SMN1 and SMN2 genes in a normal population. METHODS: Fluorescence PCR capillary electrophoresis was employed to assess gene conversion and copy number variation of SMN1 and SMN2 in a cohort of 1,133 healthy individuals (including 256 males and 877 females) recruited between 2019 and 2023. This study was approved by the Ethics Committee of Henan Provincial People's Hospital (Ethics No.: 2019-134). RESULTS: No significant gender difference was observed in the single copy carrying rate of SMN1. The probability of conversion from SMN1 to SMN2 was determined to be 3.2% for females, 2.7% for males, and 3.1% for the overall population. The probability of conversion from SMN2 to SMN1 was found to be 5.5% for females, 6.3% for males, and 5.6% for the overall population. No statistically significant difference was found in the conversion probability between different genders (P > 0.05). Among the 99 cases of gene conversion, the SMN1 gene predominantly exhibited a copy number of 2 (97.0%), with the remainder having 3 copies (3%). The SMN2 gene primarily showed a copy number of 2 (72.7%), with the rest having 1 copy (27.3%). CONCLUSION Gene conversion tends to normalize the copy numbers of both SMN1 and SMN2 genes towards 2. However, SMN1 exhibited a higher priority over SMN2, causing the copy numbers approaching two.
Humans ; Male ; Female ; Survival of Motor Neuron 2 Protein/genetics* ; Survival of Motor Neuron 1 Protein/genetics* ; Gene Conversion ; DNA Copy Number Variations/genetics* ; Adult ; Middle Aged ; Gene Dosage

OBJECTIVE: To analyze a Chinese pedigree affected with Non-syndromic autosomal recessive deafness type 12 (NFNB12), validate the function of candidate variants, and explore the underlying mechanisms. METHODS: A NFNB12 pedigree presented at Henan Provincial People's Hospital in February 2023 was selected as the study subject. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing of the pedigree members. Reverse transcription polymerase chain reaction (RT-PCR) was used to determine the level of mRNA transcription in the peripheral blood samples from the pedigree members, and protein expression was evaluated with Western blotting assay. This study was approved by Medical Ethics Committee of Henan Provincial People's Hospital (Ethics No.: 2019-134). RESULTS: WES analysis revealed that the proband has harbored homozygous c.6688delG (p.Ala2230Profs*4) variant of the CDH23 gene, for which both parents were identified as heterozygous carriers. RT-PCR analysis demonstrated the sole presence of the variant mRNA in the proband, and both the variant and wild-type mRNAs in both parents. Furthermore, Western blotting analysis indicated that the proband had exclusively expressed the truncated CDH23 protein, while both the normal and truncated forms of the protein were noted in her parents. CONCLUSION The c.6688delG (p.Ala2230Profs*4) variant of the CDH23 gene probably underlay the pathogenesis of NFNB12 in this pedigree. The loss of function of the CDH23 gene resulting from this variant is not related with nonsense-mediated mRNA decay, but rather production of a truncated protein. Above finding has not only enriched the mutational spectrum of the CDH23 gene and offered a method for investigating the function of its variants using peripheral blood samples, but also delineated the molecular basis for the loss of function, which has provided crucial evidence for genetic counseling and prenatal diagnosis for this family.
Humans ; Pedigree ; Male ; Female ; Asian People/genetics* ; Cadherins/genetics* ; Exome Sequencing ; Deafness/genetics* ; Mutation ; China ; Adult ; Cadherin Related Proteins ; Hearing Loss, Sensorineural/genetics* ; East Asian People

To investigate the expression and significance of cell surface receptor signaling lymphocyte activation molecule family member 7 (SLAMF7) in normal intestinal tissues and intestinal inflammatory tissues of mice.

Although olaparib has demonstrated substantial clinical benefits as maintenance therapy in BRCA mutation-carrying women with newly diagnosed advanced ovarian cancer, its effectiveness in patients without BRCA mutations remains poorly investigated. This study aims to provide the first evidence on the efficacy of mono-olaparib maintenance therapy in such context. Using real-world data from 11 high-volume tertiary care centers in China, a retrospective cohort study was conducted to assess the efficacy and safety of olaparib as first-line maintenance therapy in patients with BRCA wild-type ovarian cancer. The primary objective was 1-year progression-free survival rate. Safety was also evaluated. Fifty patients with a median age of 54 years were included, and all of them tested negative for BRCA mutations but positive for homologous recombination deficiency (HRD). The 1-year PFS rate was 75.2% (95% CI, 63.4 to 89.2), and the median PFS was 21.0 months (95% CI, 13.8 to 28.2). All the patients received olaparib at a starting dose of 300 mg twice daily, and none experienced serious adverse events (AEs). Eight (16%) patients had dose adjustment, but none discontinued olaparib treatment due to AEs. We provide the first evidence that mono-olaparib could be a safe and effective maintenance treatment option for patients newly diagnosed with HRD-positive/BRCA wild-type ovarian cancer.
Humans ; Female ; Phthalazines/adverse effects* ; Piperazines/administration & dosage* ; Middle Aged ; Ovarian Neoplasms/genetics* ; Retrospective Studies ; Adult ; Aged ; Poly(ADP-ribose) Polymerase Inhibitors/administration & dosage* ; China ; Maintenance Chemotherapy ; BRCA2 Protein/genetics* ; Antineoplastic Agents/adverse effects* ; Progression-Free Survival ; BRCA1 Protein/genetics*

Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy and dilated cardiomyopathy, are X-linked recessive genetic disorders due to variants of the dystrophin gene, which can seriously affect quality of life and health. Genetic diagnosis plays a crucial role in their diagnosis, treatment, and prevention. How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire. By compiling expertise of experts from the relevant areas and guidelines published home and abroad, this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques, testing strategies, and detection process for dystrophinopathies.
Humans ; Quality of Life ; Consensus ; Dystrophin/genetics* ; Muscular Dystrophy, Duchenne/therapy* ; Cardiomyopathy, Dilated/genetics* ; Electrocardiography

OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Cohen syndrome. METHODS: A proband who was admitted to Zhengzhou People's Hospital on June 2, 2021 due to intellectual disability and developmental delay, in addition with her younger sister and other family members, were selected as the study subjects. Clinical data of the proband and her younger sister were collected. Genomic DNA was extracted from peripheral venous blood and chorionic villi samples. Chromosomal abnormalities were detected with chromosomal microarray analysis (CMA). Whole exome sequencing (WES) and Sanger sequencing were carried out to detect candidate variants in the proband. With RNA extracted from the peripheral blood samples, VPS13B gene transcripts and expression were analyzed by PCR and real-time quantitative PCR. Prenatal diagnosis was carried out at 12 weeks' gestation. RESULTS: The proband was a 10-year-old female with clinical manifestations including development delay, obesity, severe myopia and peculiar facial features. Her sister was 3 years old with a similar phenotype. CMA revealed no chromosomal abnormality in the proband, while WES results revealed that the proband and her sister had both harbored compound heterozygous variants of the VPS13B gene, namely c.10076_10077delCA (p.T3359fs*29) and c.6940+1G>T, which were respectively inherited from their mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PS4+PM4+PP1; PVS1+PM2_Supporting+PM3+PP1). In vivo splicing assay confirmed that the c.6940+1G>T variant has produced a frameshift transcript with skipping of exon 38. Compared with the control group, the expression of RNA in the peripheral blood of the proband's parents has decreased to 65% ~ 70% (P < 0.01), whilst that in the proband and her sister has decreased to 40% (P < 0.001). Prenatal diagnosis at 12 weeks of gestation has found that the fetus only harbored the heterozygous c.10076_ 10077delCA variant. CONCLUSION The c.10076_10077delCA (p.T3359fs*29) frameshift variant and c.6940+1G>T splicing variant probably underlay the Cohen syndrome in this pedigree. Genetic testing has facilitated the diagnosis of this disease.
Female ; Humans ; East Asian People ; Intellectual Disability/genetics* ; Mutation ; Myopia/genetics* ; Pedigree ; Vesicular Transport Proteins/genetics* ; Child, Preschool ; Child

Objective: To determine the current prevalence of health risk behaviors among college students in Henan Province, and to conduct an in depth analysis of the impact of cumulative ecological risks on health risk behaviors, so as to provide scientific basis for promoting healthy development of adolescents. Methods: Using a multi stage stratified cluster sampling method, 9 743 college students from six universities in Henan Province were included as the research subjects from April to June 2023. A questionnaire survey was conducted using the College Student Cumulative Ecological Risk Scale and the China Urban Adolescent Health Related Behavior Survey Questionnaire (University Version). Data were analyzed by descriptive statistical analysis, Chi square test and binary Logistic regression. Results: The reporting rates of unhealthy eating behavior, unhealthy weight loss behaviors, lack of physical activity, daily risk behaviors, negative emotions, current smoking behavior current drinking behaviors, Internet addiction emotions and dangerous sexual behaviors among college students in Henan Province were 40.2%, 39.5%, 76.0%, 13.7%, 28.1%, 11.3%, 12.7%, 5.9% and 2.2%, respectively. The reporting rates of negative emotions, current smoking behaviors, current drinking behaviors, dangerous sexual behaviors and daily risk behaviors of college students were higher in boys than in girls ( χ 2=44.00, 995.20, 902.49, 121.95, 103.09, P <0.05). In terms of reporting rates of unhealthy diet, unhealthy weight loss and lack of exercise behavior, girls were higher than boys ( χ 2=107.59, 13.01, 145.83, P <0.05). Cumulative ecological risk was positively correlated with overall health risk behaviors. For every unit increase in the cumulative ecological risk index, the risk of health risk behaviors among college students increased by 48%. Conclusions The prevalence of health risk behaviors among college students is relatively common. It should adrocate for a healthy lifestyle, reduce the cumulative ecological risk and the occurrence of health risk behaviors to promote the healthy development of adolescents.

Objective: To track and investigate the changes in visual acuity of primary and secondary school students in Henan Province during the COVID-19 pandemic home confinement, so as to provide theoretical basis for the prevention and control of myopia. Methods: A cohort study design was employed for this research. In September 2019, visual acuity tests were conducted among 2 222 primary and secondary school students by Multi stage random cluster sampling method from four cities in Henan Province, including Zhengzhou, Xinxiang, Zhoukou, and Pingdingshan. A follow up study was conducted in June 2020, with on site visual acuity tests and questionnaire surveys. Wilcoxon rank sum test, Kruskal Wallis rank sum test, Chi square test, one way analysis of variance, and multiple linear regression model were used to analyze the changes in visual acuity of primary and secondary school students and the influencing factors from 2019 to 2020. Results: Compared with 2019, the overall myopia rate of students increased in 2020, and the difference was statistically significant (55.7%, 64.9%, χ 2=1 035.91, P <0.01), and the difference between mild, moderate and severe myopia rates occurred at 2 years (2019:32.4%, 18.8%, 4.4%, 2020:36.7%, 22.5%, 5.7%, χ 2= 8.43, 9.23, 3.94, P <0.05). The myopia incidence rate of primary and secondary school students in 2020 was 28.3%. As presented in multiple linear regression analysis, middle school, grade 4th-6th and grade 1st-3rd of primary school, low economic level, using television for online classes, the study desk being not bright on sunny days, without looking far away during breaks, the brightness of the study desk and desktop which was average on sunny days, and using roof lamp only when studying at night were associated with myopia progression among students ( B=-0.16, -0.18, -0.20, -0.06, -0.21, -0.13, -0.11, -0.40, P <0.05). Conclusions During 2019-2020, primary and secondary school students in Henan Province experience a progression towards myopia, which is comprehensively influenced by education stage, economic level, the habit of using eyes, and visual environment. Myopia prevention and control should be actively intervened and strengthened to improve the eye environment for primary and secondary school students, in order to slow down the development of myopia.