Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.

Autosomal dominant deafness-15 which is caused by mutation in the POU4F3 gene, has been reported with a wide degree of clinical heterogeneity, even between intrafamilial members. However, the reason is still elusive. In this study, A four-generation Chinese family with 11 patients manifesting late-onset progressive non-syndromic hearing loss was recruited.

The association between anthropogenic heat and parent-report symptoms of childhood attention deficit hyperactivity disorder in China: A novel perspective reflecting climate change.

Anthropogenic climate change will have a negative impact on worldwide well-being over and above the direct consequences of rising average temperatures. But anthropogenic heat (AH) relationship with childhood attention deficit hyperactivity disorder (ADHD) is unknown. To assess the relationship with AH exposure and childhood ADHD symptoms in the context of global climate change, this study was conducted in a cross-sectional survey from April 2012 to May 2018 in the northeastern, northwestern, and southern regions of China, with a total enrollment of 179,846 children aged 6-18 years.

Improving pregnancy outcomes in patients with recurrent implantation failure: The power of RNA-seq-based endometrial receptivity testing.

To evaluate whether RNA-seq-based endometrial receptivity testing (rsERT) can improve pregnancy outcomes in personalized frozen-thawed embryo transfer (pFET) during hormone replacement therapy (HRT) cycles among patients with recurrent implantation failure (RIF). We conducted a retrospective cohort study involving 98 RIF patients undergoing HRT for FET. The experimental group consisted of 58 patients who underwent pFET after rsERT, while the control group included 40 patients who refused rsERT and underwent conventional ET.

Exploring the link between dietary zinc intake and endometriosis risk: insights from a cross-sectional analysis of American women.

Background: Endometriosis is a complex disorder with genetic, immune, inflammatory, and multifactorial etiologies. Zinc, an essential trace element, plays a crucial role in various physiological processes. Dysregulation or deficiency of zinc can lead to aberrations in human physiology.

Latexin deficiency limits foam cell formation and ameliorates atherosclerosis by promoting macrophage phenotype differentiation.

Latexin (LXN) is abundant in macrophages and plays critical roles in inflammation. Much is known about macrophages in atherosclerosis, the role of macrophage LXN in atherosclerosis has remained elusive. Here, the expression of LXN in human and mouse atherosclerotic lesions was examined by immunofluorescence and immunohistochemistry.

Elucidating the Role of Autophagy-related Genes in Polycystic Ovary Syndrome: Implications for Diagnostic Models and Immune Response Regulation.

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder that negatively affects female reproductive capacity. Although the association between autophagy and PCOS is known, there are few detailed studies on the association between autophagy-related genes and PCOS.

Methods: Publicly available gene expression datasets (GSE102293, GSE138518, GSE34526, GSE114419, GSE137684, GSE155489) were used in a comprehensive analysis to identify a role for autophagy in PCOS.

Association between dietary vitamin B6 intake and endometriosis risk: evidence from the national health and nutrition examination survey.

Background: Endometriosis is a multifaceted disorder with genetic, immune, inflammatory, and multifactorial origins. Vitamin B6 serves as a pivotal coenzyme in various metabolic pathways involving lipids, hemes, nucleic acids, proteins, and carbohydrates. Dysregulation or deficiency of vitamin B6 can perturb human physiology.

The characteristics of intestinal microbiota in patients with type 2 diabetes and the correlation with the percentage of T-helper cells.

Background: Type 2 diabetes (T2D) is related to intestinal microflora changes and immune inflammation. We aimed to investigate the pattern of intestinal flora-systematic T helper (Th) cell linkage in T2D patients.

Methods: Participants with T2D diagnosed by physicians and healthy controls were enrolled in the study.

Bibliometric analysis of vitamin D and obesity research over the period 2000 to 2023.

Background: Globally, the incidence rates of obesity and its related diseases, such as cardiovascular diseases and type 2 diabetes, are continuously rising, posing a significant public health challenge. Studies have indicated a potential correlation between vitamin D deficiency and obesity. However, a quantitative analysis of the studies related vitamin D and obesity is lacking.

CRISPR/Cas12a-triggered ordered concatemeric DNA probes signal-on/off multifunctional analytical sensing system for ultrasensitive detection of thalassemia.

Based on CRISPR/Cas12a triggered ordered concatemeric DNA probes, a "on/off" self-powered biosensor is developed to achieve highly sensitive detection of thalassemia gene CD142 through open-circuit potential-assisted visual signal output. The ingeniously constructed glucose oxidase (GOD)-functionalized ordered concatemeric DNA probe structure can significantly amplify signal output, while the coupled CRISPR/Cas12a system is served as a "signal switch" with excellent signal-transducing capabilities. When the ordered concatemeric DNA probe structure is anchored on electrode, the response signal of the sensing system is in the "signal on" mode.

Effectiveness of Psychobiotic BB05 in Managing Psychosomatic Diarrhea in College Students by Regulating Gut Microbiota: A Randomized, Double-Blind, Placebo-Controlled Trial.

Diarrhea of college students (DCS) is a prevalent issue among college students, affecting their daily lives and academic performance. This study aims to explore the potential effect of BB05 supplements on the DCS. Initially, fifty healthy and fifty diarrheal students were recruited in the observational experiment and allocated into control and diarrhea groups, respectively.

[Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of Gene].

Objective: To perform molecular diagnosis and pedigree analysis for one case with α-thalassemia who does not conform to the genetic laws, and explore the effects of a newly discovered rare mutation () on clinical phenotypes.

Methods: Blood samples of the proband and her family members were collected for blood routine analysis, and the hemoglobin components were analyzed by capillary electrophoresis. The common α- and β-globin gene loci in Chinese population were detected by conventional techniques (Gap-PCR, RDB-PCR).

Pretreatment with or without GnRH-agonist before frozen-thawed embryo transfer in patients with PCOS: a systematic review and meta-analysis.

Purpose: This study was aimed to systematically evaluate the efficacy of artificial cycle-prepared frozen-thawed embryo transfer (FET) with or without gonadotrophin-releasing hormone agonist (GnRH-a) pretreatment for women with polycystic ovary syndrome (PCOS).

Methods: The analysis was carried out by searching the PubMed, EMBASE, and CNKI databases with a combination of keywords before October 2021. The available studies of the effects of GnRH-a pretreatment or no pretreatment on FET in PCOS patients were considered.

Differentiation of bone marrow mesenchymal stem cells into Leydig-like cells with testicular extract liquid in vitro.

Differentiation of Leydig cells plays a key role in male reproductive function. Bone marrow mesenchymal stem cells (BMSCs) have emerged as a potential cell source for generating Leydig-like cells due to their multipotent differentiation capacity and accessibility. This study aimed to investigate the morphological and genetic expression changes of BMSCs during differentiation into Leydig-like cells.

[Cases Analysis of Hemoglobin H Disease Caused by and Mutations].

Objective: To investigate two cases of rare pathogenic genes, initiation codon mutations in gene, combined with Southeast Asian deletion and their family members to understand the relationship of and mutations with clinical phenotype.

Methods: The peripheral blood of family members was obtained for blood cell analysis and capillary electrophoresis hemoglobin analysis. Gap-PCR and reverse dot blotting (RDB) were used to detect common types of mutations in ɑ-thalassaemia gene.

Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.

Aim: Abnormalities in oocyte maturation, fertilization, and early embryonic development are major causes of primary infertility in women who are undergoing IVF/ICSI attempts. Although many genetic factors responsible for these abnormal phenotypes have been identified, there are more additional pathogenic genes and variants yet to be discovered. Previous studies confirmed that bi-allelic PATL2 deficiency is an important factor for female infertility.

A study on the relationship between gut microbiota and intrahepatic cholestasis of pregnancy.

Objective: Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disease associated with a high incidence of complications in the mid and late stages of gestation. This study investigates differences in the composition of intestinal flora among pregnant women diagnosed with ICP, employing Illumina MiSeq high-throughput sequencing technology.

Methods: This case-control study obtained patient data from the hospital information system (HIS) and the laboratory information system (LIS).

Proximal tubal occlusion first or oocyte retrieval first for patients with hydrosalpinx?

Purpose: Our study aimed to investigate the best time to manage hydrosalpinx to improve pregnancy outcomes during in vitro fertilization-embryo transfer (IVF-ET).

Methods: Patients with hydrosalpinx who received IVF treatment were analyzed retrospectively. And two groups were included to compare the effects of different timing treatment of hydrosalpinx on IVF pregnancy outcomes, "Proximal Tubal Occlusion First Group" (Group Ligation-COH) and "Oocyte Retrieval First Group" (Group COH-Ligation).

Assessing social cognition in patients with schizophrenia and healthy controls using the reading the mind in the eyes test (RMET): a systematic review and meta-regression.

The reading the mind in the eyes test (RMET) - which assesses the theory of mind component of social cognition - is often used to compare social cognition between patients with schizophrenia and healthy controls. There is, however, no systematic review integrating the results of these studies. We identified 198 studies published before July 2020 that administered RMET to patients with schizophrenia or healthy controls from three English-language and two Chinese-language databases.

Atosiban application in fresh ET cycle is effective for women undergoing repeated embryo implantation failures, especially for advanced-age obese patients.

To assess the effect of atosiban in pregnancy outcomes of the fresh embryo transfer (ET), the retrospective cohort study was conducted. Six hundred and eighty-nine cases (using atosiban) and 1377 age and ET cycle-matched controls were collected from the January 2016 to May 2022 to perform the fresh IVF-ET cycle. The essential characteristics and pregnancy outcomes were analyzed.

EGR1 modulates EPHB4-induced trophoblast dysfunction in recurrent spontaneous abortion†.

Recurrent spontaneous abortion, defined as at least three unexplained abortions occurring before the 20-24 week of pregnancy, has a great impact on women's quality of life. Ephrin receptor B4 has been associated with trophoblast function in preeclampsia. The present study aimed to verify the hypothesis that ephrin receptor B4 regulates the biological functions of trophoblasts in recurrent spontaneous abortion and to explore the upstream mechanism.

Reproductive outcomes of single frozen-thawed embryo transfer in patients with endometriosis after preimplantation genetic testing.

Purpose: The reproductive outcomes of patients with endometriosis who are infertile have attracted recent attention. We aimed to explore whether endometriosis affects endometrial receptivity by observing pregnancy outcomes following a euploid blastocyst frozen embryo transfer.

Methods: This retrospective cohort study analyzed the data of patients with endometriosis from the reproductive hospital affiliated to Shandong University between January 2015 and December 2021.