Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.

Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.

Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.

Enhanced stability of hairpin-functionalized DNA tetrahedral nanostructures for miRNA detection in plasma from ischemic stroke patients.

The enzyme-free amplification technique using the Hybridization Chain Reaction (HCR) is gaining traction for its efficiency in miRNA analysis. Conventional HCR (C-HCR) with hairpin probes faces challenges due to enzymatic degradation in body fluids, leading to potential false-positive results. This study addresses the critical need for a more reliable method that resists enzymatic breakdown and improves diagnostic accuracy for detecting miRNA related to ischemic stroke.

Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations.

This study aimed to evaluate the etiology and pregnancy outcomes of fetuses underwent invasive prenatal diagnosis for fetal growth restriction (FGR) accompanied by structural malformations. Data from 130 pregnancies referred for prenatal diagnosis for FGR accompanied by structural malformations were obtained between July 2011 and July 2023. Traditional karyotyping was conducted for all the subjects.

Experience of copy number variation sequencing applied in spontaneous abortion.

Purpose: We evaluated the value of copy number variation sequencing (CNV-seq) and quantitative fluorescence (QF)-PCR for analyzing chromosomal abnormalities (CA) in spontaneous abortion specimens.

Methods: A total of 650 products of conception (POCs) were collected from spontaneous abortion between April 2018 and May 2020. CNV-seq and QF-PCR were performed to determine the characteristics and frequencies of copy number variants (CNVs) with clinical significance.

Genetic evaluation for twin pregnancies using karyotyping and single nucleotide polymorphism array analysis.

The study aimed to assess chromosomal abnormalities in twin pregnancies using karyotyping and SNP array analysis. The research involved 530 twin pregnancies from two prenatal diagnosis centers between October 2012 and October 2022. Two types of twin pregnancies were considered: monochorionic diamniotic (MCDA) and dichorionic diamniotic (DCDA), with a total of 177 MCDA and 353 DCDA cases.

Identification of a novel 91.5 kb-deletion (αα) in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing.

Objectives: To present a novel 91.5-kb deletion of the α-globin gene cluster (αα) identified by genetic assay and prenatal diagnosis in a Chinese family.

Subjects And Methods: The proband was a 34-year-old G3P1 (Gravida 3, Para 1) female at the gestational age of 21 weeks with a history of an edematous fetus.

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.

Introduction: Genetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects. In this study, we have recruited seven families from China with neurodevelopmental abnormalities in which epilepsy was a predominant manifestation, aiming to elucidate the underlying causes and make a precise diagnosis for the cases.

Methods: Whole-exome sequencing (WES) combined with Sanger sequencing was used to identify the causative variants associated with the diseases in addition to essential imaging and biomedical examination.

Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center.

Objectives: The aim of this study was to explore the frequency and profile of non-mosaic sex chromosome abnormalities detected in prenatal diagnosis over the past 10 years.

Methods: We retrospectively reviewed pregnancies diagnosed with non-mosaic sex chromosome abnormalities between January 2012 and December 2021, using karyotyping and/or single nucleotide polymorphism (SNP) array. Maternal age, indications for testing, and outcomes were recorded.

Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center.

Objectives: Non-immune hydrops fetalis (NIHF) is a non-specific symptom associated with a wide range of disorders. The prognosis of NIHF depends on the underlying etiology. In this study, we investigated the incidence of chromosomal abnormalities and Bart's hydrops fetalis in pregnancies associated with NIHF in South China.

Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience.

Background: Prenatal invasive genetic testing is commonly recommended to pregnancies of early-onset FGR or FGR combined with a structural defect. Our study aimed to explore the genetic findings for FGR without structural malformations according to cytogenetic karyotyping and single nucleotide polymorphism array (SNP array) technology over a 10-year period.

Methods: A total of 488 pregnancies diagnosed with FGR without structural malformation were retrospectively reviewed.

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios.

Background: Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pregnancies with polyhydramnios are limited. The aim of this study is to evaluate the implications of pregnancy with polyhydramnios by CMA testing and routine karyotyping.

APA scoring system: a novel predictive model based on risk factors of pregnancy loss for recurrent spontaneous abortion patients.

The aim of this study was to analyse the risk factors of pregnancy loss of patients with recurrent spontaneous abortion (RSA) and develop a scoring system to predict RSA. Clinical data of 242 cases, with RSA who were treated at Fujian Provincial Maternity and Children's Hospital, were selected. The factors of pregnancy loss for RSA patients were evaluated by univariate and multivariate analyses.

Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center.

Objective: This retrospective study aimed to systematically evaluate the genetic disorders, cytomegalovirus (CMV) infection, extra ultrasound findings and outcomes of fetuses with bilateral ventriculomegaly (BVM).

Methods: Data from pregnancies with fetal BVM were obtained between 2014 and 2020. The cases were divided into groups of isolated bilateral ventriculomegaly (IBVM) and non-isolated bilateral ventriculomegaly (NIBVM) according to the presence of extra prenatal imaging.

Peripheral Blood Inflammatory-Immune Cells as a Predictor of Infertility in Women with Polycystic Ovary Syndrome.

Purpose: This study aimed to investigate the inflammatory-immune cells in the peripheral blood of women with polycystic ovary syndrome (PCOS) and assessed the potential correlation between inflammatory-immune cells and infertility in PCOS women.

Materials And Methods: In this case-control study, the profiles of lymphocyte subsets were analyzed by flow cytometry. White blood cells (WBC), neutrophils (Neu), lymphocytes, Ferriman-Gallwey (F-G) score, testosterone, prolactin, follicle-stimulating hormone, luteinizing hormone, fasting blood glucose, and fasting plasma insulin were measured, together with body mass index.

LZAP promotes the proliferation and invasiveness of cervical carcinoma cells by targeting AKT and EMT.

: To explore the relationship and mechanism of LZAP in the occurrence and development of cervical cancer and to provide a new target and intervention method for the treatment of cervical cancer. : Data mining and analysis of LZAP expression levels were performed using several online databases, including The Cancer Genome Atlas (TCGA). A cervical cancer cell line that stably overexpresses LZAP was established, and the effect of LZAP overexpression on cell proliferation, invasion, migration and tumor formation in vivo as well as its mechanism were explored.

Molecular spectrum of β-thalassemia in Fujian Province, Southeastern China.

To provide basic information for β-thalassemia (β-thal) screening, genetic counseling and prenatal diagnosis (PND), we characterized β-thal mutations in Fujian Province, Southeastern China. A total of 16 different β-thal gene mutations were identified from 1058 patients. Of these, the IVS-II-654 (C>T) and codons 41/42 (-TCTT) were the most prevalent, accounting for 76.