118 results match your criteria: "Maternal and Child Health Hospital of Hunan Province[Affiliation]"

Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.

Am J Hum Genet

January 2025

Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, Guangdong, China. Electronic address:

Article Synopsis
  • EP400 is a gene that encodes an essential protein for ATP-dependent chromatin remodeling, and its role in diseases is not well understood, although this study suggests a link to epilepsy and neurodevelopmental disorders (NDDs).
  • Researchers conducted whole-exome sequencing on 402 families and found EP400 variants associated with individuals experiencing epilepsy and NDDs, with some variants being inherited and others newly formed.
  • The study also demonstrated that EP400 is crucial during brain development, particularly in neurons, and its deficiency can lead to significant neurological issues, making it a potentially key player in these conditions.
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Chrysotoxine regulates ferroptosis and the PI3K/AKT/mTOR pathway to prevent cervical cancer.

J Ethnopharmacol

February 2025

Department of Pathology, The Second Xiangya Hospital of Central South University, Changsha, China; Hunan Clinical Medical Research Center for Cancer Pathogenic Genes Testing and Diagnosis, The Second Xiangya Hospital of Central South University, Changsha, China. Electronic address:

Ethnopharmacological Relevance: Dendrobium (commonly known as Shihu in China), a traditional Chinese medicinal herb recognized in the Pharmacopoeia of China (2020 edition), boasts a rich history of medicinal application. Extensive research has been conducted on its Chinese medicinal prescription due to its demonstrated anti-tumour effects in clinical settings. Dendrobium is comprised of a diverse range of chemical compounds, notably the Bibenzyls, Erianin, and Gigantol, which have exhibited significant inhibitory and therapeutic effects on cervical cancer, thereby suggesting potential therapeutic value.

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Prenatal Exposure to Per- and Polyfluoroalkyl Substances and ASD-Related Symptoms in Early Childhood: Mediation Role of Steroids.

Environ Sci Technol

September 2024

Key Laboratory of Environment and Health (HUST), Ministry of Education & Ministry of Environmental Protection, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei, China.

Article Synopsis
  • * In this study, 396 neonates' cord serum samples were analyzed for 13 PFAS, revealing that higher levels of specific PFAS like PFNA and PFDA correlated with increased ASD-related symptoms as children reached age 4.
  • * The findings suggest significant interactions between multiple PFAS and ASD symptoms, with PFNA identified as a major factor, and indicate that a portion of the impact from long-chain PFAS exposure on sensory symptoms may be mediated through a hormone called androstenedione.
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Background: Recurrent pregnancy loss (RPL) is a common pregnancy complication that brings great pain to pregnant women and their families. Genetic factors are an important cause reason of RPL. However, clinical research on monogenic diseases with recurrent miscarriage is insufficient.

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Background: Carrier screening is the most effective method to block the occurrence of thalassemia. However, due to differences in race and genotype, MCV, MCH, HbA2 and other indicators are far from each other. The purpose of this study is to evaluate the common screening indicators of a, b and ab-compound thalassemia carriers in Hunan Province, and try to use the relevant formulas in the existing literature to predict and distinguish different types of thalassemia carriers.

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Van der Hoeve's syndrome, also known as osteogenesis imperfecta (OI), is a genetic connective tissue disorder characterized by fragile, fracture-prone bone and hearing loss. The disease is caused by a gene mutation in one of the two type I collagen genes COL1A1 or COL1A2. In this study, we identified a novel frameshift mutation of the COL1A1 gene (c.

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PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/β-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids.

Biochem Biophys Res Commun

February 2024

Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan, China; Otolaryngology Major Disease Research Key Laboratory of Hunan Province, Changsha, Hunan, China; Clinical Research Center for Pharyngolaryngeal Diseases and Voice Disorders in Hunan Province, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China. Electronic address:

Waardenburg syndrome type 1 (WS1) is a hereditary disease mainly characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary defects. To elucidate molecular mechanisms underlying PAX3-associated hearing loss, we developed inner ear organoids model using induced pluripotent stem cells (iPSCs) derived from WS1 patient and healthy individual. Our results revealed a significant reduction in the size of inner ear organoids, accompanied by an increased level of apoptosis in organoids derived from WS1 patient-iPSCs carrying PAX3 c.

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[Clinical analysis of 86 cases of acute fatty liver of pregnancy].

Zhonghua Fu Chan Ke Za Zhi

December 2023

Department of Obstetrics and Gynecology, the Third Affiliated Hospital of Guangzhou Medical University, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, Guangzhou 510150, China.

To investigate the clinical characteristics and maternal and fetal prognosis of pregnant women with acute fatty liver of pregnancy (AFLP). The clinical data of 86 AFLP pregnant women admitted to the Third Affiliated Hospital of Guangzhou Medical University from September 2017 to August 2022 were collected, and their general data, clinical characteristics, laboratory tests and maternal and fetal outcomes were retrospectively analyzed. (1) General information: the age of the 86 pregnant women with AFLP was (30.

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This study aims to investigate the predictive values of serum placental growth factor (PIGF), total cholesterol (TC), and triglycerides (TG) in the context of intrahepatic cholestasis of pregnancy (ICP). This retrospective case control study recruited pregnant women from January 2021 to December 2021 at the Maternal and Child Health Hospital of Hunan Province, encompassing pregnant women diagnosed with ICP and those with unremarkable prenatal examinations. A total of 433 pregnant women were included, among whom 167 were diagnosed with ICP after 24 weeks of pregnancy.

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Background: Postpartum depression (PPD) is associated with several psychological and obstetric factors. Hepatitis B virus (HBV) infection has been linked with a high risk of depression, but little is known about the relationship between maternal HBV infection and PPD. We aimed to investigate the association between HBV infection and PPD.

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Background: To research the effect of China's many-child policy on the number of births and the prevalence of serious teratogenic and disabling defects (STDDs) in Hunan province.

Methods: We performed an observational study based on the Birth Defect (BD) Surveillance System of Hunan Province and chose STDD case cards. From 2012-2022, we defined the following 4 periods: the one-child policy (OCP) (2012.

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Objective: To investigate the correlation of the severity of teratospermia and the age of the patient with sperm DNA fragmentation index (DFI) and high DNA stainability (HDS) in male infertility patients.

Methods: We collected semen samples from 1 393 infertile males from July to December 2021. Based on the WHO Laboratory Manual for the Examination and Processing of Human Semen (5th Ed), we performed sperm morphology analysis, examined perm DFI and HDS by flow cytometry, and analyzed the impacts of the severity of teratospermia and the age of the patients on sperm DFI and HDS.

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Objectives: Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients.

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Age at treatment initiation predicts response in children with chronic hepatitis B.

Aliment Pharmacol Ther

November 2023

Department of Maternal and Child Health, Xiangya School of Public Health, Central South University, Changsha, China.

Background: Accumulating evidence suggests that age has a significant impact on disease progression and outcome of hepatitis B virus (HBV) infection. However, its effect on treatment response has not yet been fully elucidated.

Aim: To investigate the associations of age at treatment initiation with clinical treatment outcomes in children with chronic hepatitis B (CHB).

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The optimization of culture conditions is one of the main strategies to improve the embryo development competence in fertilization (IVF). Glucose is an important carbon source while also exists in the oviductal fluid , the effect of glucose in embryo development microenvironment is still unclear. Here we employed the LC-MS to detect and analyze the metabolites in the culture medium of different cleavage stages including 2-Cell, 4-Cell and 8-Cell mouse embryos, respectively.

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Functional identification of two novel variants and a hypomorphic variant in from patients with Citrullinemia type I.

Front Genet

July 2023

Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China.

Citrullinemia type I (CTLN1) is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the gene encoding the arginosuccinate synthetase (ASS1) enzyme. Classic CTLN1 often manifests with acute hyperammonemia and neurological symptoms. Molecular genetic testing is critical for patient diagnosis.

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Maternal Hepatitis B Virus Infection and Risk of Congenital Heart Diseases.

JAMA Pediatr

September 2023

Department of Maternal and Child Health, Xiangya School of Public Health, Central South University, Changsha, China.

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The differences in immune features and genomic profiling between squamous cell carcinoma and adenocarcinoma - A multi-center study in Chinese patients with uterine cervical cancer.

Gynecol Oncol

August 2023

Department of Gynecologic Oncology, Fudan University Shanghai Cancer Center, Fudan University, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. Electronic address:

Article Synopsis
  • The study investigated the immune features and genomic differences between squamous cell carcinoma (SCC) and adenocarcinoma (AC) of the cervix, involving 336 patients over several medical centers in China.
  • Results showed that AC had more mutations linked to immunotherapy resistance, while SCC had higher tumor mutational burdens and better immune cell infiltration, particularly of CD4+ T cells.
  • The findings suggest that SCC and AC have distinct genetic profiles, which may inform different treatment approaches for these cervical cancer subtypes.
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The authors conducted an observational study to explore the association between body fat composition and the risk of hyperhomocysteinemia (HHcy) and their combined effect on the risk of developing cardiovascular disease (CVD). Adults aged 18-74 years from the Northwest China Natural Population Cohort: Ningxia Project (CNC-NX) were recruited in this study. Association between body fat composition and HHcy was evaluated by logistic regression model.

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Using deep learning to predict survival outcome in non-surgical cervical cancer patients based on pathological images.

J Cancer Res Clin Oncol

August 2023

Department of Oncology, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China.

Purpose: We analyzed clinical features and the representative HE-stained pathologic images to predict 5-year overall survival via the deep-learning approach in cervical cancer patients in order to assist oncologists in designing the optimal treatment strategies.

Methods: The research retrospectively collected 238 non-surgical cervical cancer patients treated with radiochemotherapy from 2014 to 2017. These patients were randomly divided into the training set (n = 165) and test set (n = 73).

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The aim of this study was to investigate the clinical features and risk factors of intrahepatic cholestasis of pregnancy (ICP) and its effect on pregnancy outcomes. The data from 300 pregnant women with ICP and 300 pregnant women without ICP admitted from July 2015 to December 2016 at Changsha Maternal and Child Health Hospital were collected. The factors associated with ICP were examined.

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This study investigated the implication of monitoring hypertensive disorders in pregnancy (HDP) to prevent preeclampsia (PE) in pregnant women of advanced maternal age. Between January 2016 and April 2021, 262 consecutive pregnant women aged ≥40 years were recruited. Extensive monitoring of hypertensive disorders in pregnancy, including blood hypercoagulability screening and subsequent interventions, was performed in 129 pregnant women in our university hospital.

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SUPT16H encodes the large subunit of the FAcilitate Chromatin Transcription (FACT) complex, which functions as a nucleosome organizer during transcription. We identified two individuals from unrelated families carrying de novo missense variants in SUPT16H. The probands exhibit global developmental delay, intellectual disability, epilepsy, facial dysmorphism and brain structural abnormalities.

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