Into a Deeper Understanding of CYP2D6's Role in Risperidone Monotherapy and the Potential Side Effects in Schizophrenia Spectrum Disorders.

Schizophrenia spectrum disorders (SSD) are a group of diseases characterized by one or more abnormal features in perception, thought processing and behavior. Patients suffering from SSD are at risk of developing life-threatening complications. Pharmacogenetic studies have shown promising results on personalized treatment of psychosis. In the current study, 103 patients diagnosed with SSD treated with risperidone as antipsychotic monotherapy were enrolled. Socio-demographics and clinical data were recorded, and laboratory tests and genotyping standard procedure for cytochrome P450 (CYP) 2D6*4 were performed. Patients were evaluated by the Positive and Negative Syndrome Scale (PANSS) on admission and at discharge. Based on the reduction in the PANSS total score, subjects were divided into non-responders, partial responders and full responders. Only 11 subjects had a full response to risperidone (10.67%), 53 subjects (51.45%) had a partial response, and 39 participants (37.86%) were non-responders. Patients at first episode psychosis showed significantly higher levels of blood glucose and prolactin levels, while chronic patients showed significantly higher LDL levels. Adverse drug reactions (ADR) such as tremor and stiffness significantly correlated with genetic phenotypes (p = 0.0145). While CYP2D6 showed no impact on treatment response, ADR were significantly more frequent among poor and intermediate metabolizers.

Polymorphism Patterns and Socioeconomic Characteristics and Their Influence on the Risk of Preeclampsia.

Background: Preeclampsia (PE) is a critical condition affecting pregnancies worldwide. Understanding its etiology, particularly the genetic factors, is vital. This study aims to investigate the association between ACE gene polymorphisms, specifically the ACE G2350A (rs4343) variant, and the predisposition to PE, offering insights into the genetic predisposition towards this complex condition. Methods: A case-control study was conducted with 140 participants without PE (Control Group) and 128 participants diagnosed with PE (PE Group). The study focused on comparing the prevalence of the rs4343 polymorphism between the groups. Results: The analysis identified a significantly reduced risk associated with the AG genotype and an insignificant increase in risk with the AA genotype. Statistically significant differences in demographic and clinical characteristics, such as BMI and marital status, were observed between the groups, suggesting a multifaceted risk profile for PE that includes genetic, environmental, and socio-economic factors. Conclusions: The study highlight the significant role of genetic variations, specifically the ACE G2350A (rs4343) polymorphism, in influencing PE predisposition. It highlights the intricate interplay between genetic predispositions and other risk factors in the development of PE. Further research is encouraged to expand on these findings and explore a wider range of genetic polymorphisms and their interactions with environmental factors.

Coffee Consumption and CYP1A2 Polymorphism Involvement in Type 2 Diabetes in a Romanian Population.

Cytochrome P450 1A2 (CYP1A2) is known to be the main enzyme directly responsible for caffeine metabolism. Rs762551 (NC_000015.10:g.74749576C>A) is a single nucleotide polymorphism of the CYP1A2 gene, and it is known mainly for metabolizing caffeine. A significant worldwide health issue, type 2 diabetes (T2DM), has been reported to be negatively associated with coffee consumption. Yet, some studies have proven that high intakes of coffee can lead to a late onset of T2DM. OBJECTIVES: This study aims to find any significant correlations among CYP1A2 polymorphism, coffee consumption, and T2DM. METHODS: A total of 358 people were enrolled in this study-218 diagnosed with T2DM, and 140 representing the control sample. The qPCR technique was performed, analyzing rs762551 (assay C_8881221) on the LightCycler 480 (Roche, Basel, Switzerland) with Gene Scanning software version 1.5.1 (Roche). RESULTS: Our first observation was that the diabetic patients were likely to consume more coffee than the non-diabetic subjects. People with the AA genotype, or the fast metabolizers, are the least common, yet they are the highest coffee consumers and present the highest glucose and cholesterol levels. Another important finding is the correlation between coffee intake and glucose level, which showed statistically significant differences between the diabetic group (p = 0.0002) and the control group (p = 0.029). CONCLUSIONS: The main conclusion of this study is that according to genotype, caffeine levels, glucose, and cholesterol are interconnected and proportionally related, regardless of type 2 diabetes.

Shiga Toxin-Producing Escherichia coli Strains from Romania: A Whole Genome-Based Description.

The zoonotic Shiga toxin-producing Escherichia coli (STEC) group is unanimously regarded as exceptionally hazardous for humans. This study aimed to provide a genomic perspective on the STEC recovered sporadically from humans and have a foundation of internationally comparable data. Fifty clinical STEC isolates, representing the culture-confirmed infections reported by the STEC Reference Laboratory between 2016 and 2023, were subjected to whole-genome sequencing (WGS) analysis and sequences were interpreted using both commercial and public free bioinformatics tools. The WGS analysis revealed a genetically diverse population of STEC dominated by non-O157 serogroups commonly reported in human STEC infections in the European Union. The O26:H11 strains of ST21 lineage played a major role in the clinical disease resulting in hospitalisation and cases of paediatric HUS in Romania surpassing the O157:H7 strains. The latter were all clade 7 and mostly ST1804. Notably, among the Romanian isolates was a stx2a-harbouring cryptic clade I strain associated with a HUS case, stx2f- and stx2e-positive strains, and hybrid strains displaying a mixture of intestinal and extraintestinal virulence genes were found. As a clearer picture emerges of the STEC strains responsible for infections in Romania, further surveillance efforts are needed to uncover their prevalence, sources, and reservoirs.