9 results match your criteria: "Shenzhen Maternity and Child Health Care Hospital Affiliated to Southern Medical University[Affiliation]"

Docosahexaenoic acid insufficiency impairs placental angiogenesis by repressing the methylene-bridge fatty acylation of AKT in preeclampsia.

Placenta

September 2024

Obstetrics and Gynecology Hospital of Fudan University, Fangxie Road 419, Huangpu District, Shanghai, China; The Institute of Biomedical Science, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine-Related Diseases, Shanghai, China; Department of Obstetrics, Shenzhen Maternal and Child Health Care Hospital Affiliated to Southern Medical University, Shenzhen, China. Electronic address:

Introduction: Preeclampsia (PE), characterised by hypertension in pregnancy, is regarded as a placental metabolism-related syndrome affecting 5-8% of pregnancies worldwide. The insufficiency of polyunsaturated fatty acids (PUFAs), such as docosahexaenoic acid (DHA), is a causative factor of PE pathogenesis. However, its molecular aetiology is yet to be comprehensively elucidated.

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Article Synopsis
  • The study aimed to uncover the genetic causes of a rare heart disease in a Chinese family, focusing on a 5-month-old boy with Barth syndrome.
  • Researchers conducted trio-whole exome sequencing on the child and his parents, discovering significant variants in the TAZ and TNNI3 genes, which are linked to his condition and familial heart issues.
  • Findings suggest that the TAZ gene variant likely causes Barth syndrome in the child, while a TNNI3 gene variant may be responsible for heart problems in his mother and other relatives, enhancing understanding of these genetic conditions.
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Mosaic Evolution of Beta-Barrel-Porin-Encoding Genes in .

Appl Environ Microbiol

April 2022

Youth Innovation Team of Medical Bioinformatics, Shenzhen University Health Science Center, Shenzhen, China.

Bacterial porin-encoding genes are often found under positive selection. Local recombination has also been identified in a few of them to facilitate bacterial rapid adaptation, although it remains unknown whether it is a common evolutionary mechanism for the porins or outer membrane proteins in Gram-negative bacteria. In this study, we investigated the beta-barrel (β-barrel) porin-encoding genes in Escherichia coli that were reported under positive Darwinian selection.

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Objective: To investigate the clinical characteristics, diagnosis, treatment and etiology of persistent Müllerian duct syndrome (PMDS).

Methods: A 3-year-old boy was diagnosed with PMDS according to the clinical manifestations and the results of ultrasonography, laboratory examinations and earlier surgical examination. We performed genetic tests for the patient and his family members, removed the infantile uterus by laparoscopic wedge hysterectomy, biopsied and descended the bilateral testes, and ligated the bilateral internal rings, followed by a retrospective analysis and review of relevant literature.

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Objective: To explore the genetic etiology for a newborn with corneal opacity.

Methods: The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis. Copy number variation (CNV) was analyzed with low-coverage whole-genome sequencing (WGS) and single nucleotide polymorphism microarray (SNP array).

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Objective: To explore the genetic basis for a family affected with congenital heart defects.

Methods: G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.

Results: G-banding karyotyping showed the patient was 45,XY,rob(15;21)(q10;q10)[36]/46,XY[64], while the fetus had an normal karyotype.

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Background: Gestational diabetes mellitus (GDM) can cause severe adverse effects on fetal and neonatal outcomes. The following study investigates the relationship between retinol-binding protein 4 (RBP4) and GDM in pregnant women with different grades (A1 and A2) and different gestational weeks.

Methods: In this retrospective study, 194 GDM patients (GDM group) and 67 normal glucose tolerance pregnant women (control group) were enrolled from 2014 to 2017.

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Objective: This study aimed to analyze the possible association between known genetic risks and preeclampsia in a Han Chinese population.

Methods: A total of 156 patients with preeclampsia and 286 healthy Han Chinese women were enrolled and genotyped for 27 genetic alleles associated with preeclampsia in different populations. The association between the genotypes of the individual alleles and preeclampsia and the possible interaction among the alleles were analyzed.

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Objective: To investigate the fat emulsion tolerance in preterm infants of different gestational ages in the early stage after birth.

Methods: A total of 98 preterm infants were enrolled and divided into extremely preterm infant group (n=17), early preterm infant group (n=48), and moderate-to-late preterm infant group (n=33). According to the dose of fat emulsion, they were further divided into low- and high-dose subgroups.

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