Association between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects.

BACKGROUND AND AIMS: Neural tube defects (NTDs) occur when the neural tube fails to close within 28 days of human embryonic development. This results in central nervous system disorders like anencephaly, spina bifida, and encephalocele. Early diagnosis and treatment are crucial to minimize their impact on an individual's health and well-being. The present study aims to define the association between prenatal exposure to trace elements (Cu and Zn) and the single nucleotide polymorphism (SNP) of the MTHFR gene involved in folate metabolism pathways in neural tube defects in children and their mothers. MATERIAL AND METHODS: A cross-sectional study involving 331 participants (90 NTD cases, 88 healthy mothers, 85 NTD children, and 68 healthy children) from antenatal check-ups in Obstetrics and Gynaecology and Pediatric Surgery for Neural Tube Defects in the Outpatient Department (OPD) and Inpatient Department (IPD). Assessed Cu and Zn concentrations and their associations. Genomic DNA was extracted, and real-time PCR was used to determine genotypes. Atomic absorption spectrophotometry measured trace elements. Statistical analyses included Chi-Square tests, odds ratios, and Mann-Whitney U tests. RESULTS: Significant associations were found between MTHFR C677T genotypes and NTD risk in mothers (p = 0.0491) and children (p = 0.0297). Allelic frequency analysis indicated a T allele association with NTD risk in children (p = 0.0107). Recessive models showed significant associations in mothers (p = 0.0169) and children (p = 0.1678). Cu levels differed significantly between NTD cases and controls (p < 0.0001), with MTHFR genotypes influencing Cu levels. Zinc levels also varied significantly (p < 0.0001). CONCLUSION: This study reveals complex associations between MTHFR C677T genotypes, trace element concentrations, and NTD risk in mothers and children. This targeted approach allows healthcare providers to identify at-risk pregnancies early, enabling personalised interventions like folic acid supplementation and counselling to moderate neural tube defect (NTD) risk in a future pregnancy.

Relationship of Serum Periostin With Asthma Control in Children: Single Center Experience.

OBJECTIVE: To determine the association between serum periostin levels and asthma control in children. METHODS: Children aged 6-17 years with physician-diagnosed asthma were enrolled in the study. Age-matched (±2 years) control children, who visited our outpatient department with non-respiratory complaints, were also enrolled. RESULTS: A total of 90 children (60 with asthma and 30 control subjects) with a mean (SD) age of 12.1 (2.77) years were enrolled. Children with asthma had significantly higher median (IQR) periostin levels than the controls [23.5 (22,26) vs 22 (19.4, 22.96); P= 0.04]. On multivariable logistic regression analysis, serum periostin levels were associated with poor asthma control in children [OR (95% CI), 1.12 (1.01-1.24); P= 0.02]. Age, body mass index, IgE levels, eosinophil count, forced expiratory volume in first minute (FEV1) and presence of allergic rhinitis did not have any association with asthma control. CONCLUSION: Asthmatic children have a high serum periostin level, and its higher levels are associated with poor asthma control.

Molecular docking analysis of penta galloyl glucose with the bcl-2 family of anti-apoptotic targets.

Apoptosis requires cellular proteins from the B-cell lymphoma 2 (BCL-2) family linked to breast cancer. Therefore, it is of interest to document the Molecular docking analysis data of penta galloyl glucose with the bcl-2 family of anti-apoptotic targets (Bcl-2, BCL-XL, Caspase 3, and Caspase 9). Data shows that Pentagalloyl glucose have optimal binding features with Bcl-2, BCL-XL, Caspase 3, and Caspase 9 proteins with binding energy of -8.6,-7,-7.5 and 4.4 kcal/mol respectively for further consideration in this context.

Speckle Tracking Echocardiographic Assessment of Left Ventricular Function by Myocardial Strain Before and After Aortic Valve Replacement.

BACKGROUND & OBJECTIVES: In patients of aortic stenosis and regurgitation, pressure and volume effects on left ventricular function are occult and missed by routine echocardiography markers like ejection fraction (EF). Speckle tracking analysis by measuring global longitudinal strain and global circumferential strain seems to ascertain this occult LV function parameters at an early phase in a more comprehensive manner. Limited studies have examined these parameters pre/post aortic valve replacement (AVR). METHODS: 94 consecutive patients with symptomatic severe aortic stenosis (AS) or aortic regurgitation (AR), planned for AVR were included (as per set inclusion criteria) along with 15 normal controls-15 months prospective study. Routine echocardiography and speckle tracking imaging was done at baseline (pre AVR) and post AVR at 1st week, 1st month and 3rd month of follow up. RESULTS: 90 patients completed study (70 in AS and 20 in AR group). In AS group mean values (± 2 standard deviations) of global longitudinal strain (GLS) improved from a baseline -10.9% (± 3.9) to -19.4% (±3.8) at 3rd month (p value < 0.0001). Mean values of global circumferential strain (GCS) too improved from -17.3% (±4.5) to -21.4% (±3.6) respectively (p value < 0.0001). In AR group too mean values of global longitudinal strain progressed from a baseline -12.6% (±3.9) to -19.4% (±3.4) at three months of follow (p value < 0.0001) and mean values of global circumferential strain also progressed from -15.3% (±3.4) at baseline to -21.7% (±3.1) respectively (p value < 0.0001). CONCLUSION: Magnitude of recovery of GLS and GCS after AVR was more as compared to recovery in EF. Poor GLS/GCS values at baseline were associated with lesser recovery pressing need for an earlier intervention.

Role of Genetic Variants and Gene Expression in the Susceptibility and Severity of COVID-19.

Since its first report in December 2019, coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has rapidly emerged as a pandemic affecting nearly all countries worldwide. As the COVID-19 pandemic progresses, the need to identify genetic risk factors for susceptibility to this serious illness has emerged. Host genetic factors, along with other risk factors may help determine susceptibility to respiratory tract infections. It is hypothesized that the ACE2 gene, encoding angiotensin-converting enzyme 2 (ACE2), is a genetic risk factor for SARS-CoV-2 infection and is required by the virus to enter cells. Together with ACE2, transmembrane protease serine 2 (TMPRSS2) and dipeptidyl peptidase-4 (DPP4) also play an important role in disease severity. Evaluating the role of genetic variants in determining the direction of respiratory infections will help identify potential drug target candidates for further study in COVID-19 patients. We have summarized the latest reports demonstrating that ACE2 variants, their expression, and epigenetic factors may influence an individual's susceptibility to SARS-CoV-2 infection and disease outcome.

Association of syntax score with short-term outcomes among acute ST-elevation myocardial infarction patients undergoing primary PCI.

OBJECTIVE: Syntax score (SX) has emerged as a reproducible angiographic tool to quantify the extent of coronary artery disease based on location and complexity of each lesion. It has been shown to predict long-term clinical outcomes in patients with left main or multi-vessel disease and recently also in ST-segment elevation myocardial infarction undergoing primary PCI. The aim of this study was to evaluate whether the syntax score is associated with short-term cardiovascular outcomes in patients treated with primary percutaneous coronary intervention (PCI) for acute ST-segment elevation myocardial infarction (STEMI). METHODS: Syntax score was determined in 90 consecutive patients (mean age 54.2±11.6) of STEMI undergoing primary PCI. Outcomes were stratified according to syntax score groups: SX low ≤15 (n=33), SX mid 16-22 (n=30), and SX high ≥23 (n=27). The primary endpoint was all-cause mortality at 30 days. Secondary endpoints were nonfatal major adverse cardiac and cerebrovascular events (MACE) defined as a composite of any repeat revascularization, acute coronary syndrome, and stroke at 30 days in patients discharged alive. RESULTS: Mortality at 30 days was higher in the SX high group compared to the SX mid and SX low group (18.5% vs 3.3% p=0.011), MACE at 30 days was higher in SX high group compared to SX mid and SX low group (48.1% vs 16.6% vs 9.1%, p=0.001). CONCLUSIONS: The syntax score is associated with 30-day mortality in patients with STEMI undergoing primary PCI. In those discharged, it is associated with risk of MACE at 30 days.