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

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

Am J Hum Genet

October 2022

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

Article Synopsis
  • * Eight individuals with developmental issues and rare mutations in FRMD5 showed that these mutations are mostly new (de novo) and suggest that FRMD5 variants contribute to neurological disorders.
  • * Research on the corresponding fly gene (dFrmd) revealed that loss of this gene leads to extreme sensitivity to heat and seizures, indicating that human FRMD5 mutations likely result in neurological abnormalities through similar mechanisms.
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Bone cancer pain (BCP) is one of the typical and distressing symptoms in cancer patients. Morphine is a widely used analgesic drug for BCP; however, long-term morphine administration will lead to analgesic tolerance. Our previous study indicated that spinal glial cell line-derived neurotrophic factor (GDNF) exerts analgesic effects in rats with BCP.

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LncRNA KCNQ1OT1 promotes the metastasis of ovarian cancer by increasing the methylation of EIF2B5 promoter.

Mol Med

September 2022

Department of Gynaecology, The Third Xiangya Hospital of Central South University, No. 138, Tongzipo Road, Changsha, 410013, Hunan Province, People's Republic of China.

Background: Long non-coding RNAs (lncRNAs) have emerged as regulators of human malignancies, including ovarian cancer (OC). LncRNA KCNQ1OT1 could promote OC progression, and EIF2B5 was associated with development of several tumors. This project was aimed to explore the role of lncRNA KCNQ1OT1 in OC development, as well as the involving action mechanism.

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Objective: To establish a novel approach for diagnosing endometriosis (EM) in patients with impaired endometrial receptivity.

Method: Mixed lineage leukemia 1 (MLL1) and enhancer of zeste homolog 2 (EZH2) levels were analyzed. The MLL1:EZH2 ratio in identifying impaired endometrial receptivity has been established and validated.

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Background: Existing evidence highlights that exposure to secondhand smoke (SHS) is a risk factor for pregnant women's health and is possibly affected by individual characteristics. This study aimed to explore the effect of individual socioeconomic status (SES) on SHS exposure among pregnant women in the third trimester and the interaction effect of age.

Methods: A total of 678 nonsmoking pregnant women with a median age of 29.

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Objective: A retrospective study was conducted to explore the role and clinical value of optimized fetal main pulmonary artery Doppler parameters in the diagnosis and prognosis monitoring of neonatal respiratory distress syndrome (NRDS).

Methods: Pregnant women admitted to our hospital for delivery from March 2019 to June 2021 were included in the study. There were 372 singleton pregnant women who voluntarily underwent ultrasound and Doppler examinations with informed consent for the study.

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Extracellular-superoxide dismutase DNA methylation promotes oxidative stress in homocysteine-induced atherosclerosis.

Acta Biochim Biophys Sin (Shanghai)

July 2022

NHC Key Laboratory of Metabolic Cardiovascular Diseases Research, Ningxia Medical University, Yinchuan 750004, China.

Article Synopsis
  • The study examines how homocysteine (Hcy) affects DNA methylation of extracellular-superoxide dismutase (EC-SOD) in the aorta of mice and explores the mechanism in macrophages.
  • Mice were given various diets for 15 weeks, and the researchers measured EC-SOD and DNA methyltransferase 1 (DNMT1) expression, revealing higher Hcy levels correlated with increased oxidative stress and atherogenic lesions.
  • The findings indicate that Hcy suppresses EC-SOD expression through DNA methylation changes mediated by DNMT1, contributing to oxidative stress and the progression of atherosclerosis.
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(A) Sanger sequencing confirmation and family pedigree for the patient. (B) A schematic representation of transcript and translation showing the positions of all CAPZA2 variants identified.

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Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation.

Eur J Hum Genet

December 2023

National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.

Congenital disorders of glycosylation (CDG) is a group inherited disorders. It is characterized by multi-organ dysfunction with significant morbidity and mortality. MAN2B2-CDG caused by pathogenic variants in the MAN2B2 gene was a rare CDG.

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Objective: To study the burden of neurodevelopmental diseases (NDDs) via cost-of-illness analysis of Chinese patients with genetic diagnosis.

Methods: We recruited NDD patients (0-18 years old) with genetic diagnosis (GD) from September 1, 2020 to January 30, 2021. We gathered basic information on the details of diagnosis, as well as the direct medical cost, direct non-healthcare cost and indirect cost before and after receiving GD.

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Cesarean scar pregnancy with expectant management.

J Obstet Gynaecol Res

July 2022

Department of Medical Imaging, Medical College of Yangtze University, Jingzhou, Hubei, China.

Aim: This study aimed to ascertain whether the lower anterior myometrial thickness (MT) between the bladder and the gestational sac in early pregnancy can be used to predict clinical outcomes in women with cesarean scar pregnancy (CSP) after expectant management.

Methods: We retrospectively analyzed the clinical data and early pregnancy ultrasound images of 21 patients who received expectant management for CSP. Among them, 11 patients with serious complications during pregnancy, such as intraoperative blood loss ≥1000 mL or with severe forms of morbidly adherent placenta (MAP; placenta increta or placenta percreta), were assigned to group A.

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The Roundabout (Robo) receptors, located on growth cones of neurons, induce axon repulsion in response to the extracellular ligand Slit. The Robo family of proteins controls midline crossing of commissural neurons during development in flies. Mono- and bi-allelic variants in human ROBO1 (HGNC: 10249) have been associated with incomplete penetrance and variable expressivity for a breath of phenotypes, including neurodevelopmental defects such as strabismus, pituitary defects, intellectual impairment, as well as defects in heart and kidney.

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Background: Antipsychotics contribute to the development of type 2 diabetes mellitus (T2DM) in individuals with schizophrenia. However, the extent of the relationship between antipsychotic use and T2DM varies in different settings, and the magnitude of the drug-specific effects fluctuates widely. This study aimed to explore the association of T2DM with antipsychotic use among enrollees with schizophrenia in China's National Basic Public Health Service Program (NBPHSP) and the drug-specific relationship with T2DM among patients receiving antipsychotic monotherapy.

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Despite the extensive efforts, there is still a lack of a licensed vaccine against Chlamydia trachomatis in humans. The mouse genital tract infection with Chlamydia muridarum has been used to both investigate chlamydial pathogenic mechanisms and evaluate vaccine candidates due to the C. muridarum ability to induce mouse hydrosalpinx.

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C-terminal truncation (MCTT) syndrome is caused by variants in the C-terminal region of , which were first described in 2020. The clinical features of MCTT syndrome includes severe neurodevelopmental and brain abnormalities. We reported on a patient who carried the variant in the C-terminal region with mild developmental delay and normal brain magnetic resonance image (MRI).

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Surface coating prolongs the degradation and maintains the mechanical strength of surgical suture in vivo.

Colloids Surf B Biointerfaces

January 2022

Dr. Li Dak Sum & Yip Yio Chin Center for Stem Cells and Regenerative Medicine, Zhejiang University School of Medicine, Hangzhou, China; International Institutes of Medicine, the Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, China. Electronic address:

Biodegradable and absorbable sutures have been widely used in surgical procedures. However, for the repair of ligament and tendon injures, the biodegradable suture cannot provide sufficient mechanical support to close the wound for a long period of time which is important to completely heal the tissue. Herein, we develop a simple method that makes a surface coating to prolong the degradation of the suture in vivo.

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Chlamydia trachomatis is a leading infectious cause of infertility in women due to its induction of lasting pathology such as hydrosalpinx. Chlamydia muridarum induces mouse hydrosalpinx because C. muridarum can both invade tubal epithelia directly (as a first hit) and induce lymphocytes to promote hydrosalpinx indirectly (as a second hit).

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Maternal obesity is associated with multiple adverse reproductive outcomes, whereas the underlying molecular mechanisms are still not fully understood. Here, we found the reduced nicotinamide phosphoribosyl transferase (NAMPT) expression and lowered nicotinamide adenine dinucleotide (NAD ) content in oocytes from obese mice. Next, by performing morpholino knockdown assay and pharmacological inhibition, we revealed that NAMPT deficiency not only severely disrupts maturational progression and meiotic apparatus, but also induces the metabolic dysfunction in oocytes.

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Introduction: Newborn screening is an important supplement to thalassemia control and prevention. Capillary electrophoresis (CE) technology has several advantages for thalassemia screening but with low sensitivity, especially for thalassemia carriers. This study aims to illustrate the application of an optimized interpretation model in newborn thalassemia screening by capillary hemoglobin electrophoresis.

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Congenital disorders of glycosylation (CDGs) are inherited metabolic diseases affecting protein and lipid glycosylation. DDOST-CDG is a rare, newly identified type of CDGs, with only one case reported so far. In this study, we report a Chinese patient with a homozygous pathogenic variant in DDOST (c.

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Spreads to the Large Intestine Lumen via Multiple Pathways.

Infect Immun

September 2021

Department of Microbiology, Immunology and Molecular Genetics, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA.

in the genital tract is known to spread via the blood circulation system to the large intestine lumen to achieve long-lasting colonization. However, the precise pathways by which genital accesses the large intestine lumen remain unclear. The spleen was recently reported to be critical for chlamydial spreading.

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Chlamydia is known to both ascend to the upper genital tract and spread to the gastrointestinal tract following intravaginal inoculation. Gastrointestinal Chlamydia was recently reported to promote chlamydial pathogenicity in the genital tract since mice intravaginally inoculated with an attenuated Chlamydia strain, which alone failed to develop pathology in the genital tract, were restored to develop hydrosalpinx by intragastric coinoculation with wild-type Chlamydia. Gastrointestinal Chlamydia promoted hydrosalpinx via an indirect mechanism since Chlamydia in the gut did not directly spread to the genital tract lumen.

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