Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis.

BACKGROUND: Digital Polymerase Chain Reaction (dPCR) presents a promising approach for quantifying DNA and analyzing copy number variants, particularly in non-invasive prenatal testing. This method offers a streamlined and time-efficient procedure in contrast to the widely used next-generation sequencing for non-invasive prenatal testing. Studies have reported encouraging results for dPCR in detecting fetal autosomal aneuploidies. Consequently, this systematic review aimed to evaluate the effectiveness of dPCR in screening for trisomy 21, 18, and 13. METHODS: A systematic search was conducted in PubMed, Web of Sciences, and Embase for relevant articles published up to December 30, 2023. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) was utilized for the quality assessment of the included articles. Furthermore, a bivariate random-effect regression model was used to conduct a meta-analysis on the utility of dPCR for trisomy 21 screening. RESULTS: A total of 9 articles were included in this review, with all of them assessing the utility of dPCR in trisomy 21 screening, and 2 and 1 studies conducting additional analysis on the screening abilities of dPCR for trisomy 18 and 13, respectively. A bivariate random-effects model calculated pooled sensitivity and specificity with a 95% confidence interval (CI). Meta-analysis of 6 studies comparing trisomy-21 screening with karyotyping demonstrated dPCR's pooled sensitivity of 98% [95% CI: 94 -100] and specificity of 99% [95% CI: 99 -100]. While conducting a meta-analysis for trisomy 13 and 18 proved impractical, reported values for sensitivity and specificity were favorable. CONCLUSIONS: These findings suggest that dPCR holds promise as an effective tool for non-invasive prenatal testing, presenting a less time-consuming and intricate alternative to next-generation sequencing. However, further research is necessary to evaluate dPCR's applicability in clinical settings and to delineate its specific advantages over next-generation sequencing. This study contributes valuable insights into the potential of dPCR for enhancing prenatal screening methodologies. TRIAL REGISTRATION: The protocol of this study was registered in the International Prospective Register of Systematic Reviews (PROSPERO) on 7/3/2024, with a registration code of CRD42024517523.

Vitamin D levels and lipid profiles in patients with polycystic ovary syndrome.

BACKGROUND: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder among women. Dyslipidemia is a prevalent metabolic abnormality in individuals with PCOS. Moreover, vitamin D deficiency is widespread across all societal strata, with a particularly heightened prevalence observed in patients afflicted with PCOS. The present study aimed to investigate the level of vitamin D and its correlation with lipid profiles in Iranian women diagnosed with PCOS. METHODS: This cross-sectional study was carried out at the PCOS and infertility clinic of Arash Women's Hospital in Tehran. The study encompassed the medical records of PCOS patients who attended the clinic from March 2021 to December 2023. All patients underwent blood tests, which included assessments of fasting blood sugar levels, lipid profiles, and 25-hydroxyvitamin D (25(OH)D) levels. The investigation focused on evaluating the relationship between vitamin D levels and lipid profiles. Statistical analyses, including the chi-square test and Spearman's correlation coefficient, were employed to analyze the data. RESULTS: A total of 1004 women diagnosed with PCOS were included in the study. The age range of the participants was 14 to 46 years. The majority of the participants had a body mass index (BMI) within the normal range (n = 555, 55.3%). The median vitamin D level among the participants was 26.00 (IQR: 19.00-34.00). The relationship between vitamin D levels and lipid profile parameters was assessed, revealing no significant correlation between vitamin D levels and low-density lipoprotein (LDL) (r = 0.021, p = 0.505), high-density lipoprotein (HDL) (r = 0.011, p = 0.719), or triglyceride (TG) (r = -0.026, p = 0.417) levels, both in non-adjusted and age-adjusted analyses. CONCLUSION: According to the present study, there was no significant correlation between serum 25(OH)D deficiency and elevated TG or LDL levels or decreased HDL levels in PCOS patients. Nevertheless, further prospective studies are needed to determine whether there is a causal relationship between vitamin D deficiency and lipid profile alterations, specifically among PCOS patients.

Predictors of major adverse cardiac and cerebrovascular events after percutaneous coronary intervention in older adults: a systematic review and meta-analysis.

AIM: We systematically reviewed and meta-analyzed the predictors of major adverse cardiac and cerebrovascular events (MACE/MACCE) in older adults who underwent PCI. METHODS: Three databases, PubMed, Embase, and Scopus, were searched for observational studies considering the out-of-hospital MACE/MACCE in adults ≥ 60 years old with coronary artery disease (acute or chronic) who underwent PCI. Studies were eligible if they had determined at least two statistically significant predictors of MACE/MACCE by multivariable analysis. We used the QUIPS tool to evaluate the risk of bias in the studies. Random-effects meta-analysis was utilized to pool the hazard ratios (HRs) of the most reported predictors. RESULTS: A total of 34 studies were included in the review. Older age (HR = 1.04, 95% Confidence Interval (CI): 1.03-1.06, P-value < 0.001), diabetes (HR = 1.36, 95% CI: 1.22-1.53, P < 0.001), history of myocardial infarction (MI) (HR = 1.88, 95% CI: 1.37-2.57, P < 0.001), ST-elevation MI (STEMI) at presentation (HR = 1.72, 95% CI: 1.37-2.18, P < 0.001), reduced left ventricular ejection fraction (LVEF) (HR = 2.01, 95% CI: 1.52-2.65, P < 0.001), successful PCI (HR = 0.35, 95% CI: 0.27-0.47, P < 0.001), eGFR (HR = 0.99, 95% CI: 0.97-1.00; P-value = 0.04) and left main coronary artery (LMCA) disease (HR = 2.07, 95% CI: 1.52-2.84, P < 0.001) were identified as predictors of MACE. CONCLUSION: We identified older age, diabetes, history of MI, STEMI presentation, lower LVEF, and LMCA disease increased the risk of MACE/MACCE after PCI in older adults. Meanwhile, higher eGFR and successful PCI predicted lower adverse events risk. Future studies should focus on a more robust methodology and a precise definition of MACE. REGISTRATION: PROSPERO (CRD42023480332).

Predicting outcomes in patients with low ejection fraction undergoing coronary artery bypass graft.

Introduction: Reduced left ventricular ejection fraction (LVEF) is a well-known predictor of adverse events after cardiac surgery. We aimed to assess the outcomes in patients with low LVEF undergoing coronary artery bypass graft. Methods: In this retrospective cohort, we included all patients with left ventricular ejection fraction ≤ 40 who underwent coronary artery bypass grafting between March 2007 and March 2016 (with a median follow-up of nine years) at Tehran Heart Center. Demographics and clinical characteristics were extracted from the data registry. Akaike information criterion (AIC) was used. The univariate Cox regression was performed. We investigated the predictors of mortality and major adverse cardiac and cerebrovascular events (MACCE) using Cox multivariable regression. Results: In total, 5,532 cases (79 % male) with a mean age of 65.58 were included in the study. The nine-year overall survival was calculated at 68 %, and more than half of the patients had MACCE (55 %). In adjusted multivariable Cox regression analysis, moderate to severe mitral valve regurgitation, glomerular filtration rate ≤ 60, mild right ventricular dysfunction, and valvular heart disease independently predicted higher mortality. The abovementioned predictors and peripheral vascular disease significantly increased MACCE. Conclusion: Our study indicates the clinical significance of mitral regurgitation, valvular heart disease, and renal function in patients with low ejection fraction treated by coronary artery bypass grafting surgery. Identifying predictors of adverse events can help with clinical decision-making and risk stratification, ultimately improving patient outcomes.

Prevalence of obesity and overweight in an adult population of Tehran metropolis.

Purpose: Obesity is a chronic low-grade inflammatory condition with increasing global prevalence and is associated with cardiovascular diseases. In this study, we aimed to investigate the prevalence of obesity in the Tehran cohort study (TeCS) population. Methods: We used the data collected by systematic random sampling during the recruitment phase of TeCS. The data comprised 4215 households from all districts of the Tehran metropolis, from which 8296 adults aged ≥ 35 years participated between May 2016 and February 2019. Sociodemographic data, medical history, laboratory tests, and anthropometric measurements were gathered from the participants. Participants with missing data were excluded from the final analysis. Finally, the data was analyzed using SPSS version 23, and distribution maps were created by Stata 14.2. Results: A total of 8211 participants (53.9% women) with an average age of 53.7 ± 12.6 years were studied. The age-weighted prevalence of overweight and obese among women was (37.5% [95% confidence interval (CI): 34.5, 40.6] and 35.5% [95% CI: 32.6 -38.6]) compared to men (47% [95% CI: 43.6, 50.3] and 22.9% [95% CI: 20.1 -25.8]). The prevalence of substantially increased risk of metabolic complications (SIRMC) based on waist circumference (WC) and waist-to-hip ratio (WHR) was 49.2% (95% CI: 46.3 -52.2) and 75.5% (95% CI: 72.7 -78.1) respectively. Conclusions: The prevalence of obesity in Tehran (29.3%) was much higher than in previous reports, particularly among older people, women, and socioeconomically underdeveloped districts. After age 55, more than 80% of women had SIRMC compared to 30% of men. Supplementary Information: The online version contains supplementary material available at 10.1007/s40200-023-01365-4.

Short and mid-term outcomes of valve-sparing, aortic root reimplantation (David's procedure).

BACKGROUND: In the current study, we aimed to report the short- and mid-term outcomes of patients undergoing valve-sparing aortic root reimplantation (VSARR) and our center's experience with the procedure. METHODS: Forty patients with aortic root aneurysms underwent VSARR at our center from 2010 until 2022. We retrospectively reviewed the medical records of these patients and extracted the relevant data. After carefully examining the aortic valve, the surgeon decided to perform Bentall or David's procedure during the operation. RESULTS: The study population comprised 31 (77.5%) men and nine (22.5%) women, with a mean age of 55.35 ± 15.40. One patient developed hemodynamic instability post-surgery in the hospital and died from multi-organ failure. Another patient had severe AI in the intraoperative echocardiography, and aortic valve replacement with a prosthetic graft was performed during the same operation. In pre-operation echocardiography, 25 (62.5%) patients had severe, nine (22.5%) had moderate, and six (15%) had mild AI. In the in-hospital post-operation follow-up echo, AI was improved, and no patients had severe AI (P < 0.001). Only eight patients had moderate AI in post-one-year follow-up echo exams, while the rest had mild AI. CONCLUSION: David's procedure showed excellent mid-term results in our center, with only one in-hospital mortality.

Coronary artery bypass grafting in octogenarians: a nomogram for predicting all-cause mortality.

BACKGROUND: The benefits and risks of coronary artery bypass grafting (CABG) in octogenarians remain unclear. This study aimed to identify the predictors of increased risk of all-cause mortality in octogenarian patients after CABG. METHODS: We retrospectively analyzed the data of 1636 octogenarians who underwent isolated elective on-pump CABG between 2007 and 2016. The primary endpoint was mortality from any cause. The Kaplan-Meier curve was generated for mortality. A univariate Cox regression was performed for preprocedural and procedural variables. The Akaike information criterion (AIC) using the Cox proportional hazard model was applied to determine the strongest predictors. We designed a nomogram based on the selected variables to calculate the mortality risk after one, five, and ten years. The bootstrap resampling based on the C-index was performed to validate the final model. Calibration plots were created at different time points. RESULTS: The mean age of the patients was 82.03 years (SD = 1.74), and 74% were male. In a median follow-up of 9.2 (95% CI 9.0,9.5) years, 626 (38.2%) patients died. After the selection of best predictors based on AIC, the multivariable Cox regression showed that ejection fraction < 40 (HR 1.41, 95% CI 1.21-1.65, P < 0.001), two-vessel disease (HR: 0.59, 95% CI 0.40-0.89, P = 0.012), peripheral vascular disease (HR 1.52, 95% CI 1.05-2.21, P = 0.027), and valvular heart disease (HR 1.45, 95% CI 1.24-1.69, P < 0.001) were the significant predictors of all-cause mortality. CONCLUSION: Octogenarians who undergo CABG have a high mortality risk, influenced by several preprocedural and procedural risk factors. The proposed nomogram can be considered for optimizing the management of this vulnerable age group. Clinical registration number IR.TUMS.THC.REC.1400.081.

Long-Term Effects of Opium Consumption Following Percutaneous Coronary Intervention: A 10-year Follow-Up Study.

Background: Opium consumption has been an overlooked health issue in the Iranian population, and the prognostic role of opium consumption in patients undergoing coronary revascularization is unknown. Hypothesis: We aimed to assess the association between opium consumption and long-term cardiovascular outcomes after percutaneous coronary intervention (PCI). Methods: We screened 2203 consecutive patients who underwent elective PCI between April 2009 and April 2010 at Tehran Heart Center. Exclusion criteria were unsuccessful PCI, non-elective PCI, and missing opium use data. Opium consumption was defined as self-reported ever use of any traditional opium substances. Outcomes of interest were all-cause mortality and a composite of major adverse cardiac and cerebrovascular events (MACCE). The association between opium use and study outcomes was evaluated using the inverse probability of treatment weighting (IPTW) method. Cumulative hazard curves were demonstrated to further assess the association visually. Furthermore, the effect of opium consumption on individual components of MACCE was evaluated in a competing risk setting. Results: A total of 2025 elective PCI patients were included (age: 58.7 ± 10.67, 29.1% women), among whom 297 (14.6%) patients were opium users. After a median follow-up of 10.7 years, opium consumption was associated with a higher risk of all-cause mortality (IPTW-hazard ratio [HR] = 1.705, 95% CI: 1.125-2.585; P = 0.012) and MACCE (IPTW-HR = 1.578, 95% CI: 1.156-2.153; P = 0.004). The assessment of MACCE components suggested a non-significant borderline trend for higher non-fatal myocardial infarction (IPTW-sub-distribution HR [SHR] = 1.731, 95% CI: 0.928-3.231; P = 0.084) and mortality (IPTW-SHR = 1.441, 95% CI: 0.884-2.351; P = 0.143) among opium users. Conclusions: Opium consumption is associated with a more than 50% increase in long-term risk of mortality and MACCE in patients undergoing PCI. These findings accentuate the importance of preventive strategies to quit opium addiction in this population.

Comparison of Omicron and Delta Variants of SARS-CoV-2: A Systematic Review of Current Evidence.

INTRODUCTION: Severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) caused the outbreak of coronavirus disease 2019 (COVID-19) in late 2019 in Wuhan, China. In early 2020, the disease spread rapidly around the world. Since the pandemic, SARS-CoV-2 has evolved dramatically into a wide variety of variants endowed with devastating properties. As of March 6, 2022, five SARS-CoV-2 variants of concern, including Alpha, Beta, Gamma, Delta, and Omicron strains have been identified. Due to the crucial importance of understanding the differences between the Omicron and Delta variants, this systematic review was conducted. METHODS: This systematic review investigated new variants of Omicron SARS-CoV-2 based on current studies. Online databases were searched for English articles as of January 03, 2023. Selection of publications was a two-step process of title/abstract and full-text assessment against eligibility criteria. The relevant data from the included articles were systematically collected and organized in a designed table for analysis. To ensure the quality of the review, the PRISMA checklist and Newcastle- Ottawa Scale (NOS) of quality assessment were utilized. RESULTS: The data extracted from 58 articles were analyzed, including 10003 pieces of evidence. Lower risk of hospitalization, ICU admission, and mortality after vaccination were reported in the Omicron variant compared to the Delta variant. Additionally, the Delta variant led to more severe clinical symptoms in comparison to the Omicron variant. CONCLUSION: The Omicron variant of SARS-CoV-2 results in less severe disease outcomes as compared to Delta. Nevertheless, it remains crucial to maintain ongoing monitoring, implement containment measures, and adapt vaccination protocols to effectively address the evolving variants.

A Rare Case of Inguinal Hernia of a Ureter Belonging to a Duplex Kidney.

Introduction: Inguinal herniation of the ureter is a rare entity that occurs either as a complication of renal transplantation or spontaneously. Patients may suffer from obstructive uropathy or groin pain due to the unusual ectopic course of the ureter. This case report highlights the importance of recognizing a ureteroinguinal hernia. Methods: In this case report, we present a 75-year-old man with a surgical history of a right inguinal hernia repair who was referred to our center with burning left inguinal pain that persisted for two weeks. The patient's history and physical examination were consistent with an inguinal hernia. The suspected indirect inguinal hernia was found on preoperative imaging to be a tubular structure distinct from the intestine or adjacent organs. An open exploration of the inguinal canal was performed to prevent further hernia development. Results: The unusual structure in the inguinal canal turned out to be an ectopic ureter originating from the left upper pole moiety of the left duplex kidney (i.e., with duplicated ureters) and containing concentrated urine, as confirmed on a postoperative computerized tomography urogram. Conclusion: It is crucial to perform a thorough clinical examination and utilize adequate imaging modalities before surgical procedures when encountering unidentified structures.

Core Needle Biopsy in Suspicious Malignant Thyroid Nodules with Repeated Nondiagnostic Fine Needle Aspiration.

Key message: The clinician could have CNB in mind for thyroid nodules when FNA results were nondiagnostic. Our study would suggest CNB a safe and efficient method for investigating thyroid nodules. Abstract: Usefulness of preoperative tissue sampling and pathology diagnoses in thyroid tumors were accepted worldwide. We investigate the role of Core needle biopsy (CNB) in the thyroid nodules lesions when FNA results are nondiagnostic. We conducted a cross-sectional study to evaluate twenty-six CNBs results of suspicious malignant thyroid nodules with nondiagnostic repeated fine needle aspiration. 25 from 26 CNBs were diagnostic. Twenty-one needle biopsy reports were papillary thyroid carcinoma, three CNB samples diagnosed medullary thyroid carcinoma and one of them had anaplastic results. All diagnostic needle biopsies results were compatible with final pathology. Our study would suggest CNB a safe and efficient method for investigating thyroid nodules while repeated FNA yielded nondiagnostic results.