Journal of Research in Medical Sciences
Volume:30 Issue: 1, Jan 2025

Stickler syndrome, also known as hereditary progresive arthro?ophthalmopathy, is a connective tissue disorder that arises from mutations in multiple genes, each with distinct hereditary patterns. Stickler syndrome type I, which is inherited in an autosomal dominant manner, is specifically linked to mutations in the COL2A1 gene. The objective of this study is to investigate the prevalence of common variants of the COL2A1 gene among individuals suspected of having Stickler syndrome type I.

Twenty?six Iranian patients suspected of having Stickler syndrome type I referring to Al?Zahra Hospital of Isfahan were employed in this cross?sectional study. The DNA was extracted from the patient’s peripheral blood samples, and the selected exons of the COL2A1 gene were amplified by polymerase chain reaction. Subsequently, the purified amplicons were subjected to Sanger sequencing to identify common variants associated with Stickler syndrome type I.

All patients exhibit cleft abnormalities (palate, lip, and alveolar), 84.6% of patients exhibit ocular abnormalities, 53.8% of patients exhibit hearing abnormalities, and 34.6% of patients exhibit skeletal abnormalities. As the data displays, the highest phenotype presentation prevalence rate was related to cleft lip and palate, while hemiparesis was the lowest clinical finding among the patients. Molecular analysis whichconducted to screen the COL2A1 gene of patients, identified two different variants, including a novel nonsense variant, (c.1030C>T), consistent with dominantly inherited Stickler syndrome type I, also synonymous mutation (c.213C>T) affecting in exon 2, which have been reported in database.

Genetic analysis of Twenty-six unrelated families with Stickler syndrome type I disorder discovered one novel pathogenic variant in the COL2A1 gene in a patient with Stickler syndrome type I. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.

Cardiotoxicity from chemotherapy may result in cardiomyopathy and heart failure. Clinicians can use the evaluation of cardiotoxicity?specific biomarkers, such as microRNA, as a tool for the early detection of cardiotoxicity. The study’s objective was to assess miR?146a levels as a potential biomarker for the detection of cardiotoxicity brought on by chemotherapy in patients with breast cancer.

Using quantitative reverse transcription?polymerase chain reaction, the levels of miR?146a were assessed in the blood of 37 breast cancer patients receiving anthracyclines without cardiotoxicity and 33 breast cancer patientsexperiencing cardiotoxicity brought on by chemotherapy after chemotherapy. Left ventricular ejection fraction (LVEF) ?50% was used to define heart failure by echocardiography.

MiR?146a did not show any significant difference in expression between these two study groups (P = 0.48, t?test). The expression level of miR?146a was not significantly associated with LVEF, age, and body mass index (P > 0.05), according to Pearson correlation.

MiR?146a may be a diagnostic or prognostic biomarker for cardiotoxicity brought on by chemotherapy, even though there was no discernible difference in the expression level of miR?146a between the control group and the breast cancer patients who were experiencing this side effect of chemotherapy. Therefore, miR?146a expression needs to be examined in a sizable cohort of breast cancer patients who are experiencing cardiotoxicity brought on by chemotherapy.

Ureteral stones are a common aspect of daily urologic practice, affecting 10%–15% of people worldwide over their lifetime.. This study aimed to assess the efficacy of combined medical expulsive therapy (MET) with intravenous dexamethasone and oral tamsulosin compared to tamsulosin alone in the frequency and duration of distal ureteral stone expulsion.

This prospective, double?blind, randomized controlled trial with 1:1 balanced randomization was conducted from September 2022 to March 2023 at Al?Zahra Hospital, a tertiary care facility affiliated with Isfahan University of MedicalSciences. Of 213 patients admitted to our center with acute renal colic, 134 had distal ureteral stones and were assessed. Among them, 105 patients were eligible and included in the trial and were randomly assigned into the intervention group (n = 52) and control group (n = 53). Data from four patients in the case group were omitted from the analysis due to the drop?out from the study.

Mean initial stone size was 6.5 ± 1.2 mm in the intervention, and 6.3 ± 1.0 mm in the control groups, which was not statistically significant (P = 0.488). Gender was comparable between both groups (P = 0.196), whereas the distribution of BMI (27.2 ± 4.0 vs. 29.8 ± 3.9 kg/m2, P = 0.001) and age (41.5 ± 12.9 vs. 47.9 ± 16.2 years, P = 0.031) was not in balance. In total, 43 patients had expelled the stone by the end of the 2 weeks, resulting in an overall expulsion rate of 42.5%. Specifically, 28 (58.3%) patients in the intervention group and 15 (28.3%) patients in the control group had expelled the stone, a difference that was statistically significant (P = 0.002). The time to stone expulsion did not exhibit a significant difference between the intervention and control groups (9.8 vs. 5.4 days, respectively). However, it is noteworthy that the variability in the time to stone expulsion in the tamsulosin + dexamethasone group was considerably smaller than that in the control group, as indicated by the smaller standard deviation in the former (1.0 vs. 3.8 days, respectively).

Adding dexamethasone to standard MET with tamsulosin for distal ureterolithiasis appears to increase the stone expulsion rate, although it did not significantly shorten the expulsion time.

The objective of this study was to compare the effects of early time?restricted eating (eTRE) and eTRE plus probiotic supplementation to daily caloric restriction (DCR) alone in terms of biomarkers of oxidative stress (OS), antioxidant capacity, inflammation, and blood pressure (BP) in obese women with polycystic ovary syndrome (PCOS).

The research was conducted as a randomized, parallel, placebo?controlled clinical trial with an 8?week follow?up period. Participants were randomly assigned to one of three groups: 14:10 eTRE with probiotic supplementation (n = 30), 14:10 eTRE with placebo supplementation (n = 30),or DCR with placebo supplementation (n = 30). At the beginning and 8 weeks of the intervention, systolic blood pressure (SBP) and diastolic BP, inflammation, and OS parameters were evaluated.

A total of 90 participants (mean age, 30.49 years and mean weight, 81.45 kg) were enrolled in this trial. After 8?week intervention, we observed SBP significantly decreased in both the eTRE + probiotic group (?0.31 mmHg [95% confidence interval (CI): ?0.55, ?0.07]) and the eTRE + placebo group (?0.24 mmHg [95% CI: ?0.43, 0.04]), with no significant differences observed between groups. Moreover, C?reactive protein (CRP) levels were significantly reduced in all groups (P < 0.005). Total antioxidant capacity (TAC) also showed notable improvement in both the eTRE + probiotic group (P = 0.012) and the DCR group (P = 0.032). However, there were no significant differences between the three groups regarding BP, OS, TAC, and CRP markers.

It was not found that eTRE alone or eTRE with probiotics intervention resulted in improving BP, inflammatory, OS, and antioxidant capacity biomarkers than a standard DCR diet among obese women with PCOS. The present study did not reveal significant improvements in BP, inflammatory markers, OS, or antioxidant capacity with either eTRE alone or eTRE combined with probiotics compared to a standard DCR among obese women diagnosed with PCOS.Trial Register no: IRCT20121110011421N5.

Cardiovascular diseases (CVDs) are highly prevalent among the end?stage renal disease (ESRD) patients. Prognostic value of cardiac troponin I (cTnI) in patients with asymptomatic ESRD is less conclusive. This study was an  bservational study to evaluate correlation of first admitted cTnI level with early and late (during 6 months) hospitalization and mortality of ESRD patient admitted due to non-acute coronary and non-heart failure causes in ESRD patients.

In this prospective observational study, 460 dialysis patients without overt CVD who were admitted at two university hospital were included and followed during 6 months. Patients’ demographic information and laboratory investigations including cTnI level and cause of admission were recorded. The association between cTnI level with in?hospital and late mortality was evaluated.

cTnI level was higher in female (35.9%), hemodialysis patients (28.1%), and patients with permanent catheter vascular access (29.4%). There were significant differences in level of triglyceride (TG), low?density lipoprotein (LDL) cholesterol, and high?density lipoprotein (HDL) cholesterol between patients with normal and abnormal cTnI levels (P < 0.05). Patients with abnormal cTnI levels had higher level of TG and LDL cholesterol and lower level of HDL cholesterol. cTnI levels were associated with higher in?hospital and 6?month follow?up mortality rate. In logistic regression analysis, only female gender (odds ratio [OR] =1.89, confidence interval [CI] =1.22–3.076) and TG (OR = 1.007, CI = 1.003–1.01) were positively and HDL cholesterol level (OR = 0.994, CI = 0.98–0.99) was negatively associated with increased cTnI level. cTnI level was associated with early (OR = 4.81, CI = 1.64–14.89) and late (OR = 4.31, CI = 1.61–10.96) mortality.

Although in this study, cTnI level is not directly associated with cardiovascular disorders and admission and readmission causes, it is a strong predictor of early and late mortality.

The rising prevalence of lifestyle diseases, including cardiovascular conditions, diabetes, obesity, and mental health disorders, poses a significant threat to global health. The aim of the study is to highlight the impact of sedentary lifestyles, poor diets, and chronic stress on individuals and communities. It advocates for comprehensive strategies involving public health policies, education, and community engagement. Overcoming challenges through lifestyle modifications and policy interventions is crucial. The study also discusses successful global interventions and their application in low?resource settings to combat lifestyle diseases and improve public health. Lifestyle diseases pose a serious global health threat. Urgent action is needed to address sedentary lifestyles, poor diets, and chronic stress. Coordinated efforts through policy, education, and community engagement are crucial. Promoting healthy habits and leveraging global interventions can lead to significant progress. Collaboration among stakeholders is essential for improving global well?being.

The gut ecosystem, comprising the gut microbiota and its interactions, plays a crucial role in human health and disease. This complex ecosystem involves a diverse array of microorganisms such as viruses, fungi, and bacteria, collectively known as the gut microbiota. These microorganisms contribute to various functions, including nutrient metabolism and immune modulation, thereby impacting human health. Dysbiosis, or an imbalance in the gut microbiota, has been associated with the pathogenesis of several diseases, ranging from intestinal disorders such as inflammatory bowel disease to extra?intestinal conditions such as metabolic and neurological disorders. The implications of dysbiosis in the gut ecosystem are far?reaching, affecting not only gastrointestinal health but also contributing to the development and progression of conditions such as autoimmune gastritis and gastric cancer. Furthermore, the burden of antimicrobial use and subsequent side effects, including antibiotic resistance, poses additional challenges in managing gastrointestinal diseases. In light of these complexities, investigating the role of bacteriophages as regulators of the gut ecosystem and their potential clinical applications presents a promising opportunity to tackle antibiotic resistance and fight infectious diseases.