Silicosis, caused by the inhalation of silicon dioxide (SiO), is one of the most pressing public health problems. Nevertheless, there is currently no effective treatment. This study employed male C57BL/6 J mice and mouse alveolar macrophage cell line MH-S to investigate the biological mechanism in the development of silicosis, with a view to exploring the potential applications of puerarin (Pue) in the improvement of pulmonary inflammation and fibrosis in SiO-exposed mice.
View Article and Find Full Text PDFZhongguo Dang Dai Er Ke Za Zhi
August 2024
A boy, aged 7 months, presented with severe global developmental delay (GDD), refractory epilepsy, hypotonia, nystagmus, ocular hypertelorism, a broad nasal bridge, everted upper lip, a high palatal arch, and cryptorchidism. Genetic testing revealed a heterozygous missense mutation of c.364G>A(p.
View Article and Find Full Text PDFZhongguo Dang Dai Er Ke Za Zhi
July 2024
This article reports on the clinical and genetic characteristics of monozygotic twins with Marshall-Smith syndrome (MRSHSS) due to a mutation in the gene, along with a review of related literature. Both patients presented with global developmental delays, a prominent forehead, shallow eye sockets, and pectus excavatum. Genetic testing revealed a heterozygous splicing site mutation c.
View Article and Find Full Text PDFObjectives: CLCN4 variations have recently been identified as a genetic cause of X-linked neurodevelopmental disorders. This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants.
Methods: We described 13 individuals with CLCN4-related neurodevelopmental disorder.
Ecotoxicol Environ Saf
June 2024
Silicosis is a disease characterized by lung inflammation and fibrosis caused by long-term inhalation of free silicon dioxide (SiO). Recent studies have found that a large number of lymphatic hyperplasia occurs during the occurrence and development of silicosis. miRNAs play an important role in lymphangiogenesis.
View Article and Find Full Text PDFBackground: The etiology of chronic prostatitis remains unclear; consequently, this disease is associated with recurrence and ineffective clinical therapy. Therefore, there is an urgent need to investigate the underlying pathogenesis of chronic prostatitis in order to develop more efficacious treatments.
Objective: The previous study found that knocking out of PEBP4 leads to chronic prostatitis in the male mice.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
December 2023
Rare pediatric neurogenetic diseases always have early onset, no specific therapy, high mortality, and pose a severe risk to the health and survival of children. Adeno-associated virus (AAV)-mediated gene therapy, a type of disease-modifying therapy, provides a new option for the treatment of rare pediatric neurogenetic diseases and represents a significant advancement in the field. Currently, the US Food and Drug Administration (FDA) and the European Medicines Association (EMA) have approved AAV-mediated gene therapy medications for treating spinal muscular atrophy, aromatic -amino acid decarboxylase deficiency, and Duchenne muscular dystrophy.
View Article and Find Full Text PDFBackground: Long noncoding RNA (lncRNA) is widely acknowledged for its crucial role in the biological processes of various human cancers. MCF2L antisense RNA 1 (MCF2L-AS1) is a newly identified lncRNA, which remains unexplored in the context of cancer.
Methods: MCF2L-AS1 expression was examined using qRT-PCR analysis.
The erosion of the dimple walls is investigated experimentally and numerically. A mathematical simulation framework was proposed to describe quantitatively the morphological evolution of the dimple wall quantitatively. As the wall shape continues to evolve, the wall shear stress, mesh deformation, and erosion rate would decrease and gradually tend to be constant.
View Article and Find Full Text PDFWorld J Clin Cases
July 2023
Background: Cyclin-dependent kinase inhibitor 1C () is a cell proliferation inhibitor that regulates the cell cycle and cell growth through G1 cell cycle arrest. mutations can lead to IMAGe syndrome ( allele gain-of-function mutations lead to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenital, and genitourinary malformations). We present a Silver-Russell syndrome (SRS) pedigree that was due to a missense mutation affecting the same amino acid position, 279, in the gene, resulting in the amino acid substitution p.
View Article and Find Full Text PDFBackground: Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by global developmental delay, epilepsy, hyperkinesis, ataxia, microcephaly, and behavioral disorder. However, the molecular mechanism by which these SLC9A6 mutations cause CS in humans is not entirely understood, and there is no objective method to determine the pathogenicity of single SLC9A6 variants.
Methods: Trio-based whole exome sequencing (WES) was carried out on two individuals with suspicion of CS.
Prostatitis is a common urological condition that affects almost half of all men at some point in their life. The prostate gland has a dense nerve supply that contributes to the production of fluid to nourish sperm and the mechanism to switch between urination and ejaculation. Prostatitis can cause frequent urination, pelvic pain, and even infertility.
View Article and Find Full Text PDFWorld J Mens Health
January 2024
Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is a common and non-lethal urological condition with painful symptoms. The complexity of CP/CPPS's pathogenesis and lack of efficient etiological diagnosis results in incomplete treatment and recurrent episodes, causing long-term mental and psychological suffering in patients. Recent findings indicate that the autonomic nervous system involves in CP/CPPS, including sensory, sympathetic, parasympathetic, and central nervous systems.
View Article and Find Full Text PDFU2 small nuclear RNA auxiliary factor 2 (U2AF2) is an indispensable pre-mRNA splicing factor in the early process of splicing. Recently, U2AF2 was reported as a novel candidate gene associated with neurodevelopmental disorders. Herein, we report a patient with a novel presumed heterozygous missense variant in the U2AF2 gene (c.
View Article and Find Full Text PDFSilicosis is a refractory disease. Previous studies indicate that damaged alveolar epithelial cells act as a driver in pulmonary fibrosis. Our results show that epithelial cells that acquire the mesenchymal phenotype are associated with the pathogenesis of silicosis.
View Article and Find Full Text PDFSilicosis is a common occupational disease characterized by lung inflammation, fibrosis and pulmonary dysfunction caused by long-term inhalation of free SiO. Cell foaming and the change of CyPA have been observed in SiO-induced macrophages, but the specific mechanism of CyPA in SiO-induced foam cells remains poorly understood. The purpose of this study is to explore the mechanism of CyPA in SiO-induced macrophage foaming and its effect on silicosis.
View Article and Find Full Text PDFFront Mol Neurosci
June 2022
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channel plays a critical role in regulating the resting membrane potential and integrating synaptic transmission. Variants of have been recognized as causes of epilepsy, and mutant HCN1 channels could act with loss-of-function (LOF), loss- and gain-of-function (LOF and GOF) and gain-of-function (GOF) mechanisms. However, phenotypes and pathogenesis of HCN1-related epilepsy are still poorly understood.
View Article and Find Full Text PDFEcotoxicol Environ Saf
August 2022
Silicosis is a fibrotic disease caused by long-term inhalation of SiO particles that currently has no effective treatment. Earlier studies have suggested that pulmonary lymphatic vessels play a key role in the transport of silica but have not address the long-term effects of altered pulmonary lymphatic drainage on silicosis. Here, we investigated the impact of impaired pulmonary lymphatic drainage on silicosis.
View Article and Find Full Text PDFDominant TUBB4A variants result in different phenotypes, including hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), dystonia type 4 (DYT4), and isolated hypomyelination. Here, we report four new patients with a novel TUBB4A variant (p.K324T) and three new patients with previously reported variants (p.
View Article and Find Full Text PDFBackground: Hyperpolarization-activated cyclic nucleotide-gated (HCN) current reduces dendritic summation, suppresses dendritic calcium spikes, and enables inhibitory GABA-mediated postsynaptic potentials, thereby suppressing epilepsy. However, it is unclear whether increased HCN current can produce epilepsy. We hypothesized that gain-of-function (GOF) and loss-of-function (LOF) variants of HCN channel genes may cause epilepsy.
View Article and Find Full Text PDFBackground: Diabetic nephropathy (DN) is a serious threat to human health, but its pathogenesis is not fully understood. Otsuka Long-Evans Tokushima Fatty (OLETF) rats are very similar to human DN in many aspects such as pathological changes and processes, and are deemed to be an ideal rodent model.
Objective: This study was aimed to explore the pathogenesis of DN by analyzing the protein expression profile from renal cortices in OLETF rats.