Relationship between the methylenetetrahydrofolate reductase (MTHFR) rs1801133 SNP and serum homocysteine levels of Zhuang hypertensive patients in the central region of Guangxi.

Background: The relationship between the methylenetetrahydrofolate reductase (MTHFR) single nucleotide polymorphism (SNP) and serum homocysteine (Hcy) levels or H-type hypertension in different populations is inconsistent. This study aimed to explore the association between the MTHFR rs1801133 SNP and serum Hcy levels of Zhuang hypertensive patients in the central region of Guangxi.

Methods: A total of 606 Zhuang inpatients with essential hypertension were recruited in our hospital from August 2016 to December 2018.

The Cut-Off Value of Serum Anti-Müllerian Hormone Levels for the Diagnosis of Turner Syndrome with Spontaneous Puberty.

Objective: Preservation of fertility in Turner syndrome (TS) patients may be feasible through cryopreservation of ovarian tissue before follicles begin to disappear. Anti-Müllerian hormone (AMH) is said to be a predictive factor of spontaneous pubertal development in TS. We aimed to determine the cut-off values of AMH for the diagnosis of TS girls with spontaneous puberty.

[Clinical phenotype and genetic analysis of twelve children with ring chromosomes].

Objective: To explore the prevalence and clinical manifestations of ring chromosomes among children featuring abnormal development.

Methods: From January 2015 to August 2021, 7574 children referred for abnormal development were selected, and their peripheral blood samples were subjected to G-banded chromosomal karyotyping analysis.

Results: Twelve cases of ring chromosomes were detected, which have yielded a prevalence of 0.

Maternal paraben exposure and intra-pair thyroid-stimulating hormone difference in twin neonates.

Thyroid hormones are essential for fetal growth and neurodevelopment. The recent frequent use of parabens has raised concerns about their endocrine-disrupting potential. However, the effects of maternal paraben exposure on neonatal thyroid hormone levels are still largely unknown.

Independent and combined effects of exposure to organophosphate esters on thyroid hormones in children and adolescents.

Toxicological studies suggest that organophosphate esters (OPEs) may impair thyroid function. Epidemiological evidence, related to children and adolescents, has not been reported, and little is known about the combined effects of exposure to OPE mixtures. In this study, we collected information of 1156 children and adolescents (aged 6-18 years, 48.

[Application value of CNV-seq for the prenatal diagnosis of women with high-risk pregnancies].

Objective: To assess the application value of copy number variation sequencing (CNV-seq) for women with a high risk for fetal anomalies.

Methods: Based on the results of non-invasive prenatal testing (NIPT), 271 high-risk pregnant women were divided into NIPT positive group (n = 83) and other anomaly group (advanced age, high risk by serological screening, repeated NIPT failure, adverse pregnancy history, abnormal ultrasound finding, and abnormal phenotype) (n = 188). CNV-seq was carried out to detect copy number variations (CNVs) in amniocytic DNA from the two groups of pregnant women, and karyotyping analysis of the amniotic cells was carried out for verification and comparison.

Associations between repeated measurements of urinary polycyclic aromatic hydrocarbon metabolites and thyroid hormones among reproductive-aged men.

Background: Polycyclic aromatic hydrocarbons (PAHs) have been shown to disrupt thyroid function in toxicological studies, but epidemiological evidence is inconsistent. Furthermore, little is known on potential effects of mixtures of PAHs.

Objective: This study aimed to examine the associations of exposure to PAHs as individual chemicals and mixtures with thyroid hormones.

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by gene variant. The aim of this study was to investigate the molecular epidemiological characteristic of the G6PD deficiency among newborn screening population in Wuhan region. A total of 430,806 healthy neonates in Wuhan area of China were screened for G6PD deficiency from November 2016 to December 2021.

SLC26A4 Mutation Promotes Cell Apoptosis by Inducing Pendrin Transfer, Reducing Cl Transport, and Inhibiting PI3K/Akt/mTOR Pathway.

Objective: Pendrin is encoded by SLC26A4, which is expressed in the apical membrane of inner ear epithelial cells and drives chloride reabsorption in the apical septum. In the inner ear, pendrin dysfunction and hypofunctional mutations lead to vestibular aqueduct (EVA) enlargement and sensory neural hearing loss. Mutations in SLC26A4 are a common reason of deafness.

Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China.

Different newborn screening (NBS) programs have been practiced in many countries since the 1960s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing (NESTS) program to screen 11,484 babies in 8 Women and Children's hospitals nationwide in China retrospectively.

Age-specific reference intervals of serum anti-Müllerian hormone in Chinese girls.

Background: This study aimed to establish anti-Mullerian hormone age-specific reference intervals and determine the correlation between the anti-Mullerian hormone concentration and age, body mass index and concentrations of follicle-stimulating hormones and luteinizing hormone in healthy Chinese girls.

Methods: Serum anti-Mullerian hormone concentrations of 1702 healthy girls (0-12 years), recruited between March 2018 and December 2019, were determined using the Beckman Access 2 automated chemiluminescence immunoassay. Single-year-specific medians of anti-Mullerian hormone and effects of age, body mass index, follicle-stimulating hormone and luteinizing hormone on anti-Mullerian hormone concentration were analysed.

[β-Thalassemia among Newborns in Wuhan Region and Its Influence Factors].

Objective: To investigate the screening of β-thalassemia among newborns in Wuhan region, so as to explore the influencing factors of Hb A in dried blood spot.

Methods: Concentrations of Hb A,Hb A2,Hb F in the dried blood spots collected from 99 275 neonates in Wuhan region were analyzed by Sebia capillary electrophoresis. The screening result of β-thalassemia was interpretated accroding to the ratio of each group, the suspicious β-thalassemia newborns were recalled and the gene of thalassemia in those newborns was checked.

Genome-wide methylation analysis of pre-pregnancy women in hypothyroidism.

Background: Hypothyroidism is a systemic metabolic deficiency syndrome caused by a deficiency in thyroid hormone or a decrease in the action of thyroid hormones. It has a high incidence among women of child-bearing age, and pregnant women with hypothyroidism may have a higher risk of birth defects.

Objective: To explore the specific biological mechanism affecting the occurrence of hypothyroidism.

Genome-wide DNA methylation analysis of Hashimoto's thyroiditis during pregnancy.

Hashimoto's thyroiditis (HT) during pregnancy is usually accompanied by an elevation of thyroid-stimulating hormone and a reduction of serum-free thyroxine during gestation, which may lead to abortion, preterm delivery, and reduced intellectual function of the offspring. Epigenetic alterations may provide important insights into genetic-environmental interactions in HT. Here, we examined global DNA methylation patterns in patients with HT during pregnancy.

Effect of Gestational Weight Gain on Associations Between Maternal Thyroid Hormones and Birth Outcomes.

The aim was to investigate the associations between maternal thyroid parameters within the normal ranges during early pregnancy and birth outcomes, and further to examine whether the associations were modified by gestational weight gain (GWG). Maternal serum thyroid-stimulating hormone (TSH), free thyroxine (FT4), and free triiodothyronine (FT3) concentrations within the normal ranges during early pregnancy were measured from 8,107 pregnant women in Wuhan, China. The associations between maternal thyroid parameters and birth outcomes (birth weight, birth length, and low birth weight) were analyzed using multivariable adjusted regression models, and effect modification by pre-pregnancy body mass index (BMI) category and GWG were further evaluated.

A novel G6PD gene variant in a Chinese girl with favism.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The human G6PD gene is highly polymorphic, and over 200 mutations have been identified, many of which are associated with hemolytic anemia. Here, we analyzed the clinical genetics data of a Chinese girl with favism who developed acute hemolytic anemia after fava bean ingestion.

Age-specific reference intervals for anti-Müllerian hormone in Chinese boys: A population-based study.

Background: Anti-Müllerian hormone (AMH) is used for evaluating gonadal development and testicular function. We aimed to establish AMH reference intervals and to determine the correlations between AMH level and age, body mass index (BMI), and follicle stimulating hormone (FSH), luteinizing hormone (LH), and total testosterone (TT) levels in healthy Chinese boys.

Methods: Serum AMH levels of 2,009 healthy boys (age, 0-14 years), recruited between October 2017 and April 2019, were determined using the Beckman Access 2 automated chemiluminescence immunoassay.

The CXCL12 SNPs and their haplotypes are associated with serum lipid traits.

The relationship among the single nucleotide polymorphisms (SNPs) of the C-X-C motif chemokine ligand 12 gene (CXCL12) and the serum lipid profiles in the Chinese population has rarely been described, especially in somewhat old-fashioned and isolated Maonan minority. The goal of the current study was to elucidate the connection among the CXCL12 rs501120 and rs1746048 SNPs, haplotypes, several environmental factors and serum lipid traits in the Maonan as well as Han populations. Genotyping of the two SNPs, gel electrophoresis and direct sequencing were accomplished in 1,494 distinct subjects (Maonan, 750 and Han, 744) using polymerase chain reaction and restriction fragment length polymorphism.

[Genetic Analysis and Prenatal Diagnosis for Thalassemia of Pregnant Women in Wuhan Area of China].

Objective: To investigate the common genotypes of thalassemia of the pregnant woman in Wuhan area of China, and to make the prenantal gentic diagnosis for the fetus at high risk of thalassemia.

Methods: A total of 357 pregnant woman with the primary positive screening in Wuhan area were included in this study. Genotypes were measured with PCR-flow cytometry, and fluorescence hybridization was used for detecting thalassmia gene.

Prevalence and genetic analysis of thalassemia in neonates in Wuhan area: a national megacity in central China.

Background: Thalassemia is one of the most common genetic diseases in southern China. Accurate population frequency data regarding the occurrence and distribution of thalassemia is important for designing appropriate prevention strategies of thalassemia.

Objective: The aim of this study is to reveal the prevalence and the mutation spectrum of thalassemia in neonates in the Wuhan region of central China.

A novel lncRNA-miRNA-mRNA triple network identifies lncRNA as an important regulator of miRNA and gene expression in coronary artery disease.

Background: Long non-coding RNAs (lncRNAs) are involved in numerous physiological functions. Yet, their mechanisms in coronary artery disease (CAD) are not well understood.

Methods: The expression profile of genes associated to CAD was reannotated into the lncRNA-mRNA biphasic profile.

Integrated DNA methylation and gene expression analysis in the pathogenesis of coronary artery disease.

To evaluate DNA methylation sites and gene expression associated with coronary artery disease (CAD) and the possible pathological mechanism involved, we performed (1) genome-wide DNA methylation and mRNA expression profiling in peripheral blood datasets from the Gene Expression Omnibus repository of CAD samples and controls; (2) functional enrichment analysis and differential methylation gene regulatory network construction; (3) validation tests of 11 differential methylation positions of interest and the corresponding gene expression; and (4) correlation analysis for DNA methylation and mRNA expression data. A total of 669 differentially expressed mRNAs were matched to differentially methylated genes. After disease ontology, Kyoto Encyclopedia of Genes and Genomes pathway, gene ontology, protein-protein interaction and network construction and module analyses, 11 differentially methylated positions (DMPs) corresponding to 11 unique genes were observed: - cg26949694, - cg24381155, - cg02223351, - cg11267527, - cg27637738, - cg13104385, - cg20545410, - cg25613180, - cg00559992, - cg27178677 and - cg09247619.

[Prevalence and Genetic Analysis of β-Thalassemia in Neonates in Wuhan Area of China].

Objective: To investigate the β-thalassemia genotypes in neonates in Wuhan area of China and their characteristics of molecular epidemiology.

Methods: A total of 2721 neonates in Wuhan who were positive in primary screening for β-thalassemia were included in this study. Genotypes of β-thalassemia gene were determined with PCR-flow cytometry and fluorescence hybridization assay.

An Ultrasensitive Colorimetric Strategy for Detection of Cadmium Based on the Peroxidase-like Activity of G-Quadruplex-Cd(II) Specific Aptamer.

We rationally designed an ultrasensitive and label-free sensing platform for determination of cadmium (Cd). The sensing platform contains G-quadruplex-Cd(II) specific aptamer (GCDSA) constructed by incorporating G-rich sequence at the end of 5' and the critical domain of the Cd-4 aptamer. GCDSA designed act as both a special recognition sequence for Cd and a signal DNAzyme.

Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal recessive disorder with causative genes including HPLH1, PRF1, UNC13D, STX11 and STXBP2.

Case Presentation: Here, we reported an 8-month-old female patient with compound heterozygosity in the UNC13D gene.