Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.

While de novo missense variants in the BTB domains of atypical RhoGTPase RHOBTB2 cause a severe developmental and epileptic encephalopathy, de novo missense variants in the GTPase domain or bi-allelic truncating variants are associated with more variable neurodevelopmental and seizure phenotypes. Apart from the observation of RHOBTB2 abundance resulting from BTB-domain variants and increased seizure susceptibility in Drosophila overexpressing RhoBTB, our knowledge on RHOBTB2-related pathomechanisms is limited. We now found enrichment for ion channels among the differentially expressed genes from RNA-Seq on fly heads overexpressing RhoBTB.

Bibliometric analysis of neurocysticercosis case reports and evaluation of presented cases.

Neurocysticercosis (NCC) has been classified as a neglected tropical disease by the World Health Organization (WHO), with the condition being regarded as the most significant parasitic disease affecting the nervous system. Hence, the aim of this study was to conduct a review of previously published case reports on this topic in order to ascertain whether there is an increasing trend of NCC worldwide and evaluate the cases that have been presented. After a comprehensive search of the Web of Science Core Collection using the keywords "neurocysticercosis" and "case reports", studies were selected by applying inclusion criteria.

A Parasite That Should not be Neglected in Patients with Ulcerative Colitis: .

Objective: To determine the prevalence of amoebiasis, which has been neglected in recent years according to the World Health Organization, in ulcerative colitis patients and investigate the relationship between amoebiasis and ulcerative colitis.

Methods: The study included 150 individuals, including 100 ulcerative colitis patients and 50 healthy individuals without gastrointestinal complaints. The samples collected were first analyzed macroscopically and then using native-Lugol, trichrome staining, and enzyme-linked immunosorbent assay (ELISA).

Acid sphingomyelinase activity suggests a new antipsychotic pharmaco-treatment strategy for schizophrenia.

Schizophrenia is a chronic and severe mental disorder. It is currently treated with antipsychotic drugs (APD). However, APD's work only in a limited number of patients and may have cognition impairing side effects.

Metabolic rewiring controlled by HIF-1α tunes IgA-producing B-cell differentiation and intestinal inflammation.

Germinal centers where B cells undergo clonal expansion and antibody affinity maturation are hypoxic microenvironments. However, the function of hypoxia-inducible factor (HIF)-1α in immunoglobulin production remains incompletely characterized. Here, we demonstrated that B cells lacking HIF-1α exhibited significantly lower glycolytic metabolism and impaired IgA production.

Mutual Amplification of GLI2/Hedgehog and Transcription Factor JUN/AP-1 Signaling in Fibroblasts in Systemic Sclerosis: Potential Implications for Combined Therapies.

Objective: Deregulation of the cJUN/AP-1 and hedgehog/GLI2 signaling pathways has been implicated in fibroblast activation in systemic sclerosis (SSc). However, the consequences of their concomitant up-regulation are unknown. Here, we tested the hypothesis that mutual amplification of both pathways might drive persistent fibroblast activation.

Prevalence of Blastocystis infection in humans in Türkiye: A systematic review and meta-analysis.

Although Blastocystis, a protozoan, is commonly found in all species of animals and in humans, there remains a lack of clear information about its epidemiology and routes of transmission. The aim of this meta-analysis study was to determine the changes in Blastocystis prevalence and subtype distribution in humans in Türkiye according to geographical regions. Databases were searched using the Web of Science, PubMed, Scopus, EBSCO, and TRDizin to identify studies on the prevalence of Blastocystis in humans in Türkiye published from 2009 to 2023.

Hot water epilepsy with alone and spontaneous seizures in childhood.

Objectives: Hot water epilepsy (HWE) is a type of epilepsy that primarily affects children. This study was aimed to evaluate the clinical, electroencephalogram (EEG), neuroimaging findings, and treatment options in children with HWE.

Methods: The medical records of 24 patients who had HWE were evaluated retrospectively.

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Germline mutations in BRCA1 and BRCA2 (gBRCA1/2) are required for a PARP inhibitor therapy in patients with HER2-negative (HER2-) advanced breast cancer (aBC). However, little is known about the prognostic impact of gBRCA1/2 mutations in aBC patients treated with chemotherapy. This study aimed to investigate the frequencies and prognosis of germline and somatic BRCA1/2 mutations in HER2- aBC patients receiving the first chemotherapy in the advanced setting.

Elderly and aged asthma have different characteristics: results of a multicenter study.

Background/aim: Characteristics of asthma in the elderly population is not well-known. The aim of the present study was to evaluate asthma in the elderly population, to compare disease characteristics between patients diagnosed <60 (aged asthma) and ≥60 (elderly asthma) years of age.

Materials And Methods: The study was a prospective, multicenter, cross-sectional type.

Molecular Characterization of and spp. Detected in Humans in Ağrı, Türkiye.

Background: We aimed to determine the prevalence of and spp. in patients who admitted hospital with diarrhea and to gain information about the transmission of these parasites in Ağrı, Türkiye.

Methods: This study included 184 patients who applied to Ağrı-Diyadin State Hospital, Türkiye in 2022.

Roflumilast inhibits tumor growth and migration in STK11/LKB1 deficient pancreatic cancer.

Pancreatic cancer is a malignant tumor of the digestive system. It is highly aggressive, easily metastasizes, and extremely difficult to treat. This study aimed to analyze the genes that might regulate pancreatic cancer migration to provide an essential basis for the prognostic assessment of pancreatic cancer and individualized treatment.

Increased PD-1 Expression on Circulating T Cells Correlates with Inferior Outcome after Autologous Stem Cell Transplantation.

High-dose chemotherapy followed by autologous stem cell transplantation (auto-SCT) is a well-established treatment option for multiple myeloma and malignant lymphoma patients. It is able to induce long-term progression-free survival (PFS) in both patient groups and even provide a cure in patients with aggressive lymphoma. However, relapse is common and has been associated with the pace and quality of immunologic reconstitution after transplantation, as well as with immune cell exhaustion and immunometabolic defects.

CD200 fibroblasts form a pro-resolving mesenchymal network in arthritis.

Fibroblasts are important regulators of inflammation, but whether fibroblasts change phenotype during resolution of inflammation is not clear. Here we use positron emission tomography to detect fibroblast activation protein (FAP) as a means to visualize fibroblast activation in vivo during inflammation in humans. While tracer accumulation is high in active arthritis, it decreases after tumor necrosis factor and interleukin-17A inhibition.

Head Space Single Drop Micro Extraction Gas Chromatography Flame Ionization Detection (HS-SDME-GC-FID) Method for the Analysis of Common Fatty Acids.

Objectives: Post-marketing/surveillance studies show that most of the many vegetable oils that are sold with health-promoting claims or statements with high nutritional values and are beneficial against diseases are off-limits of related monographs/criteria. Defining the oil with a fast, cheap, and efficient analytical method is needed to express fatty acids in any herbal product to authenticate, trace, specify, and classify the content.The majority of the after marketing/surveillance studies shows that most of the many vegetable oils that are sold with health-promoting claims or statements with high nutritional values and are beneficial against diseases are off-limits of related monographs/criteria.

Genotyping of Human Isolates Obtained from the Puncture, Aspiration, Injection, and Re-Aspiration (PAIR) Process in Türkiye.

Background: is spread by the excretion of cystic organs into the environment. The dog is infected via eating the cystic organ. It then contaminates the environment with eggs of , which are infective to humans and animals.

Spread of Intestinal Parasites in Patients Presenting with Gastrointestinal Complaints.

Objective: The aim of this study is to determine the prevalence of intestinal parasites in patients admitted to University of Health Sciences Türkiye (UHS) Van Training and Research Hospital.

Methods: A total of 300 patients between the ages of 18-90 who applied to UHS Van Training and Research Hospital with gastrointestinal complaints and were referred to the parasitology laboratory between September 2021 and December 2021, and 100 patients without any chronic disease and gastrointestinal complaints in the control group were included in the study. Stool samples taken from patients included in the study and individuals in the control group were analyzed by native-lugol and modified acid-fast staining methods.

Differential Effects of Very-Low-Volume Exercise Modalities on Telomere Length, Inflammation, and Cardiometabolic Health in Obese Metabolic Syndrome Patients: A Subanalysis from Two Randomized Controlled Trials.

Oxidative stress (OS) and inflammation are features of metabolic syndrome (MetS) that can contribute to the shortening of telomere length (TL), a marker of cellular ageing. Research indicates that exercise can positively influence MetS-associated conditions and TL. However, the effects of low-volume exercise types on TL are still unknown.

NLRP3 Inhibition Leads to Impaired Mucosal Fibroblast Function in Patients with Inflammatory Bowel Diseases.

Background And Aims: Inflammatory bowel diseases (IBD) are characterized by mucosal inflammation and sequential fibrosis formation, but the exact role of the hyperactive NLRP3 inflammasome in these processes is unclear. Thus, we studied the expression and function of the NLRP3 inflammasome in the context of inflammation and fibrosis in IBD.

Methods: We analysed intestinal NLRP3 expression in mucosal immune cells and fibroblasts from IBD patients and NLRP3-associated gene expression via single-cell RNA sequencing and microarray analyses.