[Artificial intelligence fluorescence method versus traditional flow cytometry for detection of sperm DFI in oligospermia patients].

Objective: To explore the influence of oligospermia (OS) on the detection of sperm DNA fragmentation index (DFI) by fluorescence method based on artificial intelligence (AI) recognition and flow cytometry-based sperm chromatin structure assay (SCSA).

Methods: We collected semen samples from 201 males, including 50 azoospermia (AS) patients as negative controls, 90 OS patients (sperm concentration >0×10⁶/ml and <15×10⁶/ml), and 61 normal men (sperm concentration ≥15×10⁶/ml). Then we subdivided the OS patients into a mild OS (sperm concentration ≥10×10⁶/ml and <15×10⁶/ml), a moderate OS (sperm concentration ≥5×10⁶/ml and <10×10⁶/ml) and a severe/extremely severe OS group (sperm concentration >0×10⁶/ml and <5×10⁶/ml), with 30 cases in each group, and compared the results of DFI detection between the AI fluorescence method and traditional flow cytometry.

Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.

Objectives: We present prenatal diagnosis of Geleophysic dysplasia (GD) at 22 weeks gestation with prenatal ultrasound findings, molecular genetic analysis and postmortem examination.

Case Report: A 27-year-old primigravida was referred at 22 + 4 weeks gestation for detailed anomaly scanning due to routine ultrasound detection of short limbs. Chorionic villus sampling followed by family-based whole-exome sequencing identified two missense ADAMTSL2 variants, both classified as variants of uncertain significance.

Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities.

This retrospective study analyzed 306 pregnant women, with 182 undergoing genetic testing using NIPT plus and CMA, and 124 undergoing standard NIPT and CMA. The study aimed to compare the clinical performance of NIPT and NIPT plus in prenatal evaluation by using CMA as the gold standard to assess the diagnostic efficiency of the two screening methods. NIPT plus and NIPT results were correlated with ultrasound findings to evaluate their accuracy and clinical utility.

Clinical Phenotype and Genetic Analysis of a Family with Hereditary Antithrombin Deficiency Caused by SERPINC1 Gene Mutation.

Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2,000-3,000) autosomal-dominant disorder with high risk of venous thromboembolism. The molecular basis of this condition has not yet fully understood, highlighting the need for further research to elucidate the underlying pathological mechanisms.This study aimed to investigate coagulation parameters and genetic phenotypes in a proband with hereditary antithrombin deficiency and her family members.

Sensitive and quick electrochemiluminescence biosensor for the detection of reactive oxygen species in seminal plasma based on the valence regulation of gold nanoclusters.

Background: Gold nanoclusters (AuNCs) obtained by electroreduction have excellent electrochemiluminescence (ECL) properties, and its ECL intensity is regulated by the valence state. In addition, their ECL signals can be rapidly quenched by reactive oxygen species (ROS). Based on this observation, a sensitive ROS biosensor was designed based on valence regulation of AuNCs.

Simple and rapid multicolor sensor for seminal plasma ROS detection based on synergistic catalytic etching of gold nanobipyramids dopped agarose composite gel.

Excessive reactive oxygen species (ROS) in seminal plasma can trigger male infertility. Therefore, the development of simple and rapid ROS detection methods is urgently needed, particularly for the early self-screening of preconception couples. Herein, a gold nanobipyramid (Au NBP)-based colorimetric hydrogel for convenient and fast ROS detection is described.

Effect of MSX1 on the cellular function of cardiomyocytes.

MSX1 (Muscle Segment Homeobox 1) has pleiotropic effects in various tissues, including cardiomyocytes, while the effect of MSX1 on cardiomyocyte cellular function was not well known. In this study, we used AC16 cell culture, real-time fluorescence quantitative PCR (qPCR), protein blotting (Western blot), flow cytometry apoptosis assay and lactate dehydrogenase (LDH) ELISA (Enzyme-Linked Immunosorbnent Assay) to investigate the effect of the MSX1 gene on cardiomyocyte function. The results showed that MSX1 plays a protective role against hypoxia of cardiomyocytes.

Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.

Background: The contribution of genetic variants to congenital heart defects (CHDs) has been investigated in many postnatal cohorts but described in few prenatal fetus cohorts. Overall, specific genetic variants especially copy number variants (CNVs) leading to CHDs are somewhat diverse among different prenatal cohort studies. In this study, a total of 1118 fetuses with confirmed CHDs were recruited from three units over a 5-year period, composing 961 of singleton pregnancies and 157 of twin pregnancies.

Overall and individual associations between per- and polyfluoroalkyl substances and liver function indices and the metabolic mechanism.

Per- and polyfluoroalkyl substances (PFAS) can disrupt liver homeostasis. Studies have shown that a single exposure to PFAS may provoke abnormal liver function; however, few studies have investigated the overall effect of PFAS mixtures. We aimed to investigate associations between exposure to PFAS mixtures and liver function indices and explore the relevant mechanisms.

Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.

Objectives: To comprehensively evaluate the contributions of numerical chromosomal abnormality, copy number variant (CNV), and sequence variant (SV) to fetuses with small head circumference in a Chinese cohort using chromosome microarray analysis and whole exome sequencing.

Methods: A total of 157 fetuses with small heads defined as head circumference < - 2 standard deviation (SD) were recruited between October 2014 and March 2023. We used the ultrasonic measurement parameter Z-score to define small head as possible microcephaly (3 < Z ≤ -2), microcephaly (-5 < Z ≤ -3), or pathologic microcephaly (Z ≤ -5).

Integrative profiling of extrachromosomal circular DNA in placenta and maternal plasma provides insights into the biology of fetal growth restriction and reveals potential biomarkers.

Fetal growth restriction (FGR) is a placenta-mediated pregnancy complication that predisposes fetuses to perinatal complications. Maternal plasma cell-free DNA harbors DNA originating from placental trophoblasts, which is promising for the prenatal diagnosis and prediction of pregnancy complications. Extrachromosomal circular DNA (eccDNA) is emerging as an ideal biomarker and target for several diseases.

Application of SNPs with low minor allele frequencies in missing person identification (MPI) through kinship analysis of DNA mixtures.

The need to identify a missing person (MP) through kinship analysis of DNA samples found at a crime scene has become increasingly prevalent. DNA samples from MPs can be severely degraded, contain little DNA and mixed with other contributors, which often makes it difficult to apply conventional methods in practice. This study developed a massively parallel sequencing-based panel that contains 1661 single-nucleotide polymorphisms (SNPs) with low minor allele frequencies (MAFs) (averaged at 0.

[A consensus on prenatal diagnosis and genetic counseling for chromosomal mosaicism].

With the extensive application of highly sensitive genetic techniques in the field of prenatal diagnosis, prenatal chromosomal mosaicisms including true fetal mosaicisms and confined placental mosaicisms are frequently identified in clinical settings, and the diagnostic criteria and principle of genetic counseling and clinical management for such cases may vary significantly among healthcare centers across the country. This not only has brought challenges to laboratory technician, genetic counselor and fetal medicine doctor, but can also cause confusion and anxiety of the pregnant woman and their family members. In this regard, we have formulated a consensus over the prenatal diagnosis and genetic counseling for chromosomal mosaicisms with the aim to promote more accurate and rational evaluation for fetal chromosomal mosaicisms in prenatal clinics.

Effect of exposures to mixtures of lead and various metals on hypertension, pre-hypertension, and blood pressure: A cross-sectional study from the China National Human Biomonitoring.

We aimed to explore the effects of mixtures of lead and various metals on blood pressure (BP) and the odds of pre-hypertension (systolic blood pressure (SBP) 120-139 mmHg, and/or diastolic blood pressure (DBP) 80-89 mmHg) and hypertension (SBP/DBP ≥140/90 mmHg) among Chinese adults in a cross-sectional study. This study included 11,037 adults aged 18 years or older from the 2017-2018 China National Human Biomonitoring. Average BP and 13 metals (lead, antimony, arsenic, cadmium, mercury, thallium, chromium, cobalt, molybdenum, manganese, nickel, selenium, and tin) in blood and urine were measured and lifestyle and demographic data were collected.

Elevated Hb A is Not Always Indicative of β-Thalassemia.

Hb A levels are usually high in carriers of β-thalassemia (β-thal). These levels also provide a sensitive marker for the identification of hemoglobin (Hb) variants. In this study, we aimed to examine two patients from two Chinese families who showed elevated Hb A levels but did not show any signs of β-thal.

Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects.

Background: Discordance between traditional cytogenetic and molecular cytogenetic tests is rare but not uncommon. The explanation of discordance between two genetic methods is difficult but especially important for genetic counseling, particularly for prenatal genetic diagnosis.

Case Presentation: Two unrelated fetuses were diagnosed with cardiac defects by prenatal ultrasound examination, and invasive cordocentesis was performed to obtain cord blood samples for prenatal genetic diagnosis.

Higher blood cadmium level is associated with greater cognitive decline in rural Chinese adults aged 65 or older.

Cadmium (Cd) exposure has been reported to have neurotoxic effects in animal studies and associated with increased Alzheimer's Disease mortality and lower cognitive function in cross-sectional and case-control studies. However, no results from longitudinal studies on Cd and cognitive decline are available. In this prospective cohort study, we recruited 1867 participants aged 65 years or older from rural areas in China, blood Cd and cognitive function were measured at baseline (2010-2012), and 1554 participants completed cognitive function tests during a 3-year follow-up (2013-2015).

Cohort profile: China National Human Biomonitoring (CNHBM)-A nationally representative, prospective cohort in Chinese population.

Objective: Globally, developed countries such as the United States, Canada, Germany, Korea, have carried out long-term and systematic biomonitoring programs for environmental chemicals in their populations. The China National Human Biomonitoring (CNHBM) was to document the extent of human exposure to a wide array of environmental chemicals, to understand exposure profiles, magnitude and ongoing trends in exposure in the general Chinese population, and to establish a national biorepository.

Methods: CNHBM adopted three-stage sampling method to obtain a nationally representative sample of the population.

A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing.

Objectives: β-Thalassemia (β-thal) is a genetic disease of the blood caused by mutations in the β-globin gene. Conventional methods for detecting thalassemia variants often miss rare and novel variants. Identifying the rare and novel β-thal variants, especially in the high prevalence regions, would enable better disease prevention.