Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.

Objective: This study evaluated the accuracy of non-invasive prenatal testing (NIPT-SGDs) for dominant monogenic genetic diseases associated with fetal structural abnormalities and to assess the feasibility of clinical application.

Methods: Pregnant women requiring prenatal diagnosis due to fetal structural abnormalities were enrolled. Maternal peripheral blood was analyzed for cell-free DNA (cfDNA) using coordinative allele-aware target enrichment sequencing (COATE-seq).

Relationship between carotid-femoral pulse wave velocity and prognosis in maintenance hemodialysis patients.

Carotid-femoral pulse wave velocity (Cf-PWV) can well predict the prognosis of the general population. However, whether Cf-PWV can be used as a prognostic indicator in maintenance hemodialysis (MHD) patients remains mysterious. The present study endeavored to explore the prognostic value of Cf-PWV among the MHD population.

A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non-syndromic deafness 2A in a Chinese family.

Background: Deafness autosomal dominant 2A (DFNA2A) is related to non-syndromic genetic hearing impairment. The KCNQ4 (Potassium Voltage-Gated Channel Subfamily Q Member 4) can lead to DFNA2A. In this study, we report a case of autosomal dominant non-syndromic hearing loss with six family members as caused by a novel variant in the KCNQ4 gene.

Functional analysis of a novel intronic variant of with autosomal recessive primary microcephaly.

Autosomal Recurrent Primary Microscopic (MCPH, OMIM: 251200) is a neurodevelopmental disorder that is characterized by a noticeable decrease in brain size, particularly in the cerebral cortex, but with a normal brain structure and a non-progressive intellectual disability. has been identified as the gene that triggers primary microcephaly (MCPH1，OMIM: 607117). Here we report a case of autosomal recessive primary microcephaly as caused by a novel variant in the gene.

NLRC3 attenuates osteoclastogenesis by limiting TNFα Th17 cell response in osteoporosis.

NOD-like receptor family CARD domain containing 3 (NLRC3) is the intracellular protein belonging to NLR (NOD-like receptor) family. NLRC3 can negatively regulate inflammatory signal transduction pathways within the adaptive and innate immunocytes. However, studies need to elucidate the biological role of NLRC3 in bone remodeling.

Enhanced trimethylamine metabolism and gut dysbiosis in type 2 diabetes mellitus with microalbumin.

Background: Abnormal gut microbiota and blood trimethylamine-N-oxide (TMAO) metabolome have been reported in patients with type 2 diabetes mellitus (T2DM) and advanced diabetic nephropathy. This study aimed to investigate the gut microbiota profiles and a group of targeted urine metabolic characteristics in T2DM patients with or without microalbuminuria, to determine the correlation between the gut microbiota composition, trimethylamine (TMA) metabolism, and the clinical features during progression of diabetic kidney disease (DKD).

Methods: This study included 26 T2DM patients with microalbuminuria (Micro), 26 T2DM patients with normoalbuminuria (Normo), and 15 healthy controls (HC).

Proliferative glomerulonephritis with monoclonal IgG Lambda deposits caused by plasmablastic lymphoma: a case report.

Introduction: As a very rare form of B-cell lymphoma, plasmablastic lymphoma (PBL) typically occurs in patients with underlying immunosuppression, including human immunodeficiency virus (HIV), organ transplantation, and autoimmune diseases. For HIV-positive patients, PBL normally originates in the gastrointestinal tract, especially from the oral cavity in most cases. It is extremely rare to find abdominal cavity involvement in PBL, and there has been no previously reported instance of proliferative glomerulonephritis with monoclonal immunoglobulin deposits (PGNMID) attributed to monoclonal IgG (MIgG) lambda secreted by PBL.

Identification of Two Novel Variants of the Gene in Chinese Families with Duchenne Muscular Dystrophy.

Background: Duchenne muscular dystrophy (DMD), an X-linked recessive neuromuscular disorder, is caused by pathogenic variants in the gene encoding a large structural protein in muscle cells.

Methods: Two probands, a 6-year old boy and a 1-month old infant, respectively, were clinically diagnosed with DMD based on elevated levels of creatine kinase and creatine kinase isoenzyme. CNVplex and whole exome sequencing (WES) were performed for causal variants, and Sanger sequencing was used for verification.

Antagonizing exosomal miR-18a-5p derived from prostate cancer cells ameliorates metastasis-induced osteoblastic lesions by targeting Hist1h2bc and activating Wnt/β-catenin pathway.

More than 50% of prostate cancer (PCa) patients have bone metastasis with osteoblastic lesions. MiR-18a-5p is associated with the development and metastasis of PCa, but it remains unclear whether it is involved in osteoblastic lesions. We first found that miR-18a-5p was highly expressed in the bone microenvironment of patients with PCa bone metastases.

Novel compound heterozygous mutations in the gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy.

Background: The most common disease caused by biallelic mutations is spastic ataxia type 5 (SPAX5). Identification of complex phenotypes resulting from biallelic mutations has been increasing in recent years.

Methods: A retrospective analysis was performed on a child with microcephaly and recurrent seizures.

Association of APP gene polymorphisms and promoter methylation with essential hypertension in Guizhou: a case-control study.

Background: Single-nucleotide polymorphisms (SNPs) and DNA methylation are crucial regulators of essential hypertension (EH). Amyloid precursor protein (APP) mutations are implicated in hypertension development. Nonetheless, studies on the association of APP gene polymorphism and promoter methylation with hypertension are limited.

Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China.

Objectives: To explore the application of third-generation sequencing (TGS) for genetic diagnosis and prenatal genetic screening of thalassemia genes.

Methods: Two groups of subjects were enrolled in this study. The first group included 176 subjects with positive hematological phenotypes for thalassemia.

A Three-Year Prospective Study Assessing the Application of Chromosomal Microarray Analysis in 576 High-Risk Pregnant Women.

Background: The use of chromosomal microarray analysis (CMA) in prenatal diagnosis of chromosomal and genetic diseases has resulted in a significant improvement in the diagnosis of genetically caused congenital malformations, neurodevelopmental disorders, and congenital anomalies, with a high diagnostic yield in selected prenatal cases.

Objective: The objective of this study was to evaluate the application of CMA in the prenatal diagnosis of high-risk pregnant women.

Method: A total of 576 pregnancies were selected from May 2018 to October 2020 in our hospital, including amniotic fluid chromosome, karyotype analysis, and CMA detection.

Vasoactive Drug Therapy and Clinical Nursing of Patients with Cardiovascular Disease.

Cardiovascular disease (CVD) is a common human disease with a large number of patients. Vasoactive drugs have a good effect on the contraction and expansion of blood vessels, which can provide certain help for the management of cardiovascular diseases. However, the clinical care of cardiovascular disease has always been based on the superficial resistance level of body fat, weight, and so on, which is unfavorable for the real recovery of patients with cardiovascular disease.

Circulating MicroRNA Panel as a Diagnostic Marker for Hepatocellular Carcinoma.

Background: Current diagnostic markers for hepatocellular carcinoma are compromised and limited by their low sensitivity and speci- ficity. In this study, circulating microRNAs were utilized as a diagnostic tool to segregate hepatocellular carcinoma patients from healthy subjects.

Methods: We analyzed 2 public datasets for differences in plasma microRNA expression profiles of hepatocellular carcinoma patients and healthy controls to identify biomarkers related to hepatocellular carcinoma.

Effect of Fushengong Decoction on PTEN/PI3K/AKT/NF-κB Pathway in Rats With Chronic Renal Failure via Dual-Dimension Network Pharmacology Strategy.

The treatment of chronic renal failure (CRF) with traditional Chinese medicine has attracted much attention, but its mechanism is not clear. Network pharmacology is an effective strategy for exploring the interaction mechanisms between Chinese herbs and diseases, however, it still needs to be validated in cell and/or animal experiments due to its virtual screening characteristics. Herein, the anti-CRF mechanism of the Fushengong decoction (FSGD) was investigated using a dualdimension network pharmacological strategy combined with experiment.

Characteristics of human oral microbiome and its non-invasive diagnostic value in chronic kidney disease.

Background: Morbidity of chronic kidney disease (CKD) is increased, with many complications and high mortality rates. The characteristics of oral microbiome in CKD patients have not been reported. This study aims to analyze the oral microbiome, and to demonstrate the potential of microbiome as noninvasive biomarkers for CKD patients.

The biological function of metazoan-specific subunit nuclear factor related to kappaB binding protein of INO80 complex.

The INO80 chromatin remodeling complex plays an essential role in the regulation of gene transcription, which participate in a variety of important biological processes in cells including DNA repair and DNA replication. Difference from the yeast INO80 complex, metazoan INO80 complex have the specific subunit G, which is known as nuclear factor related to kappaB binding protein (NFRKB). Recently, NFRKB has been received much attention in many aspects, such as DNA repair, cell pluripotency, telomere protection, and protein activity regulation.

Inflammatory osteoclasts-derived exosomes promote bone formation by selectively transferring lncRNA LIOCE into osteoblasts to interact with and stabilize Osterix.

Bone loss is a hallmark of inflammatory bone diseases caused by aberrantly activated osteoclasts (OCLs). Studies have shown that OCLs exhibit various phenotypes and functions due to variations in the source(s) of precursor cells, cytokine expressions, and microenvironment-dependent factors. During these conditions, inflammatory osteoclasts (iOCLs) lose their immune-suppressive effect relative to OCLs under physiological conditions.

Triptolide Alleviates Podocyte Epithelial-Mesenchymal Transition via Kindlin-2 and EMT-Related TGF-β/Smad Signaling Pathway in Diabetic Kidney Disease.

Diabetes-induced chronic kidney diseases are widespread and decrease the quality of life for millions of affected individuals in China. To date, no therapies effectively alleviate these conditions. Triptolide, a traditionally used Chinese medicine, has shown promise in treating renal diseases.

Protective role of PERK-eIF2α-ATF4 pathway in chronic renal failure induced injury of rat hippocampal neurons.

Purpose: Chronic renal failure (CRF) is associated with impairment of hippocampal neurons. This study investigated the effect of PERK-eIF2α-ATF4 pathway in CRF.

Methods: Rat CRF model was established and rat hippocampal neurons were separated.

Antifungal property of acrylic denture soft liner containing silver nanoparticles synthesized in situ.

Objectives: Denture soft liner is applied to relieve pain from candida-induced denture stomatitis and promote healing, but with shortage of antifungal activity and easily harbors fungi. To overcome this problem, the in-situ method was used to synthesize silver nanoparticles (AgNPs) in acrylic soft liner to obtain antifungal effects.

Methods: Acrylic soft-liner with various weight percentage of silver 2-ethylhexanoate (0%, 0.

Alterations of the Human Gut Microbiome in Chronic Kidney Disease.

Gut microbiota make up the largest microecosystem in the human body and are closely related to chronic metabolic diseases. Herein, 520 fecal samples are collected from different regions of China, the gut microbiome in chronic kidney disease (CKD) is characterized, and CKD classifiers based on microbial markers are constructed. Compared with healthy controls (HC, = 210), gut microbial diversity is significantly decreased in CKD ( = 110), and the microbial community is remarkably distinguished from HC.

Performance of HPV16/18 in Triage of Cytological Atypical Squamous Cells of Undetermined Significance.

Context: Human papillomavirus (HPV) testing is widely used in cervical cancer screening in women; however, its efficiency in triaging women with atypical squamous cells of undetermined significance (ASC-US) needs to be validated.

Objective: To evaluate the performance of HPV16/18 in the triage of women with ASC-US.

Methods: Women presenting for routine cervical cancer screening had cervical specimens collected, with which both liquid-based cytology (LBC) and hrHPVs were examined; those with ASC-US cytology underwent colposcopy.