Exploring the role of genetic variations in NAFLD: implications for disease pathogenesis and precision medicine approaches
AbstractNon-alcoholic fatty liver disease (NAFLD) is one of the leading causes of chronic liver diseases, affecting more than one-quarter of people worldwide. Hepatic steatosis can progress to more severe forms of NAFLD, including NASH and cirrhosis. It also may develop secondary diseases such as diabetes and cardiovascular disease. Genetic and environmental factors regulate NAFLD incidence and progression, making it a complex disease. The contribution of various environmental risk factors, such as type 2 diabetes, obesity, hyperlipidemia, diet, and sedentary lifestyle, to the exacerbation of liver injury is highly underst...
Source: European Journal of Medical Research - March 20, 2024 Category: Research Source Type: research

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario
ConclusionsDespite significant molecular heterogeneity among mutations in HBOC patients from Brazil, three mutations deserve to be highlighted, c.5266dupC, c.156_157insAlu and c.1010G  >  A in theBRCA1,BRCA2 andTP53 genes, respectively. With more than 200 records, these three mutations play a vital role in the pathology of breast and ovarian cancer in Brazil. The data collected shed light on the subject, but there is still not enough data from certain subpopulations. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 20, 2024 Category: Research Source Type: research

Abnormal levels of expression of microRNAs in peripheral blood of patients with traumatic brain injury are induced by microglial activation and correlated with severity of injury
ConclusionAbnormally high levels of expression of hsa-miR-122-5p and hsa-miR-193b-3p in the peripheral blood of patients with TBI were due to the activation of microglia and correlated with the severity of TBI. This discovery may help to increase understanding of the molecular pathology of TBI and guide the development of new strategies for TBI therapy based on microglial function. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 20, 2024 Category: Research Source Type: research

Inflammatory bowel disease is associated with an increase in the incidence of multiple sclerosis: a retrospective cohort study of 24,934 patients
ConclusionThe results of our analysis suggest a notable association between IBD and a subsequent MS diagnosis. These findings warrant further pathophysiological investigation and may have clinical implications for the screening of IBD patients in the future. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 20, 2024 Category: Research Source Type: research

Effect of follicle size on pregnancy outcomes in patients undergoing first letrozole-intrauterine insemination
ConclusionsThe optimal dominant follicle size was between 19.1 and 21.0  mm in hCG-triggered letrozole-IUI cycles. Either too large or too small follicles may lead to a decrease in pregnancy rate. Using follicle size as a predicator of pregnancy outcomes is more meaningful when estrogen on the day of hCG trigger is less than 200 pg/ml. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 18, 2024 Category: Research Source Type: research

Anti-reflux mucosectomy (ARMS) for refractory gastroesophageal reflux disease
AbstractGastroesophageal reflux disease (GERD) is one of the most common diseases seen by gastroenterologists worldwide. A significant proportion of patients have a suboptimal response to acid inhibitors, especially proton pump inhibitors and potassium-competitive acid blockers. Due to concerns regarding the safety of long-term medication, many patients are unwilling to take lifelong medication. Endoscopic antireflux management offers a minimally invasive option for GERD patients. In recent decades, there have been several endoscopic antireflux therapies, including radiofrequency therapy, transoral fundoplication, and muco...
Source: European Journal of Medical Research - March 18, 2024 Category: Research Source Type: research

The efficacy and safety of cannabidiol (CBD) in pediatric patients with Dravet Syndrome: a narrative review of clinical trials
ConclusionThis review consolidates evidence from multiple clinical trials, affirming the potential of CBD as a promising treatment option for pediatric patients with DS. While further research is needed to address existing knowledge gaps, CBD's efficacy and acceptable safety profile make it a valuable addition to the therapeutic tools for DS. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 18, 2024 Category: Research Source Type: research

Kangxianling formula attenuates renal fibrosis by regulating gut microbiota
ConclusionKXL displays a therapeutical potential in protecting renal function and inhibiting RF, and its mechanism of action may be associated with regulating intestinal microbiota. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 18, 2024 Category: Research Source Type: research

The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review
ConclusionsEpidemiology of MLD by geographic regions, quantitative cognitive data, data on the differences between early- and late-juvenile MLD, and humanistic or economic outcomes were limited. Further studies on clinical, humanistic (i.e., quality of life), and economic outcomes are needed to help inform healthcare decisions for patients with MLD. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 18, 2024 Category: Research Source Type: research

PDCL3 is a prognostic biomarker associated with immune infiltration in hepatocellular carcinoma
ConclusionPDCL3 is highly expressed in various cancer types. Our study suggests that elevated PDCL3 expression in hepatocellular carcinoma is associated with poorer prognosis and may serve as a potential diagnostic biomarker for LIHC. PDCL3 may regulate the biological functions of LIHC by modulating immune infiltration. However, the precise regulatory mechanisms of PDCL3 in cancer warrant further investigation. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 17, 2024 Category: Research Source Type: research

Predictive value of the Adult Comorbidity Evaluation 27 on adverse surgical outcomes and survival in elderly with advanced epithelial ovarian cancer undergoing cytoreductive surgery
ConclusionsOur findings demonstrate the ability of ACE-27 to predict grade III  + perioperative complications or unintended ICU admission and survival in elderly patients with AEOC. This highlights the possibility for ACE-27 to play an instrumental role in identifying AEOC patients who are more susceptible to adverse surgical outcomes and have a poor survival rate and assi sting in decisions regarding treatment. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 17, 2024 Category: Research Source Type: research

CD4+ T cell count and HIV-1 viral load dynamics positively impacted by H. pylori infection in HIV-positive patients regardless of ART status in a high-burden setting
ConclusionOur study demonstrates thatH. pylori co-infection was associated with higher CD4+ T cell count and lower HIV-1 viral load in HIV-positive patients, regardless of ART status. These findings show a positive effect ofH. pylori co-infection on the dynamics of HIV-related immunological and virological parameters. Further studies are needed to elucidate the underlying mechanisms of the observed effects. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 17, 2024 Category: Research Source Type: research

Construction of a gene model related to the prognosis of patients with gastric cancer receiving immunotherapy and exploration of COX7A1 gene function
ConclusionsThe ssGSEA score we constructed can serve as a biomarker for GC patients and provide important guidance for individualized treatment. In addition, theCOX7A1 gene can accurately distinguish the prognosis of GC patients and predict the clinical efficacy of immunotherapy for GC patients. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 17, 2024 Category: Research Source Type: research

Machine learning-driven prognostic analysis of cuproptosis and disulfidptosis-related lncRNAs in clear cell renal cell carcinoma: a step towards precision oncology
In this study, we analyzed RNA-seq data, clinical information, and mutation data from The Cancer Genome Atlas (TCGA) on ccRCC and cross-referenced it with known cuproptosis and disulfidptosis-related genes (CDRGs). Using the LASSO machine learning algorithm, we identified four CDRLRs —ACVR2B-AS1, AC095055.1, AL161782.1, and MANEA-DT—that are strongly associated with prognosis and used them to construct a prognostic risk model. To verify the model's reliability and validate these four CDRLRs as significant prognostic factors, we performed dataset grouping validation, followed by RT-qPCR and external database validation ...
Source: European Journal of Medical Research - March 16, 2024 Category: Research Source Type: research

A non-linear connection between the total cholesterol to high-density lipoprotein cholesterol ratio and stroke risk: a retrospective cohort study from the China Health and Retirement Longitudinal Study
ConclusionOur study demonstrated a positive, non-linear connection between the TC/HDL-C ratio and stroke risk in middle-aged and older individuals. There was a significant positive connection between the TC/HDL-C ratio and stroke risk, when the TC/HDL-C ratio was less than 3.71. The current research can be used as a guideline to support clinician consultation and optimize stroke prevention measures for middle-aged and older adults. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - March 16, 2024 Category: Research Source Type: research