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Prenatal Diagnosis Jun 2024To determine the incremental yield of prenatal exome sequencing (PES) over standard testing in fetuses with an isolated congenital heart abnormality (CHA), CHA... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
To determine the incremental yield of prenatal exome sequencing (PES) over standard testing in fetuses with an isolated congenital heart abnormality (CHA), CHA associated with extra-cardiac malformations (ECMs) and CHA dependent upon anatomical subclassification.
METHODS
A systematic review of the literature was performed using MEDLINE, EMBASE, Web of Science and grey literature January 2010-February 2023. Studies were selected if they included greater than 20 cases of prenatally diagnosed CHA when standard testing (QF-PCR/chromosome microarray/karyotype) was negative. Pooled incremental yield was determined. PROSPERO CRD 42022364747.
RESULTS
Overall, 21 studies, incorporating 1957 cases were included. The incremental yield of PES (causative pathogenic and likely pathogenic variants) over standard testing was 17.4% (95% CI, 13.5%-21.6%), 9.3% (95% CI, 6.6%-12.3%) and 35.9% (95% CI, 21.0%-52.3%) for all CHAs, isolated CHAs and CHAs associated with ECMs. The subgroup with the greatest yield was complex lesions/heterotaxy; 35.2% (95% CI 9.7%-65.3%). The most common syndrome was Kabuki syndrome (31/256, 12.1%) and most pathogenic variants occurred de novo and in autosomal dominant (monoallelic) disease causing genes (114/224, 50.9%).
CONCLUSION
The likelihood of a monogenic aetiology in fetuses with multi-system CHAs is high. Clinicians must consider the clinical utility of offering PES in selected isolated cardiac lesions.
Topics: Humans; Heart Defects, Congenital; Female; Pregnancy; Exome Sequencing; Prenatal Diagnosis
PubMed: 38708840
DOI: 10.1002/pd.6581 -
World Journal of Emergency Surgery :... Apr 2024For traumatic lower extremity artery injury, it is unclear whether it is better to perform endovascular therapy (ET) or open surgical repair (OSR). This study aimed to... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
For traumatic lower extremity artery injury, it is unclear whether it is better to perform endovascular therapy (ET) or open surgical repair (OSR). This study aimed to compare the clinical outcomes of ET versus OSR for traumatic lower extremity artery injury.
METHODS
The Medline, Embase, and Cochrane Databases were searched for studies. Cohort studies and case series reporting outcomes of ET or OSR were eligible for inclusion. Robins-I tool and an 18-item tool were used to assess the risk of bias. The primary outcome was amputation. The secondary outcomes included fasciotomy or compartment syndrome, mortality, length of stay and lower extremity nerve injury. We used the random effects model to calculate pooled estimates.
RESULTS
A total of 32 studies with low or moderate risk of bias were included in the meta-analysis. The results showed that patients who underwent ET had a significantly decreased risk of major amputation (OR = 0.42, 95% CI 0.21-0.85; I=34%) and fasciotomy or compartment syndrome (OR = 0.31, 95% CI 0.20-0.50, I = 14%) than patients who underwent OSR. No significant difference was observed between the two groups regarding all-cause mortality (OR = 1.11, 95% CI 0.75-1.64, I = 31%). Patients with ET repair had a shorter length of stay than patients with OSR repair (MD=-5.06, 95% CI -6.76 to -3.36, I = 65%). Intraoperative nerve injury was just reported in OSR patients with a pooled incidence of 15% (95% CI 6%-27%).
CONCLUSION
Endovascular therapy may represent a better choice for patients with traumatic lower extremity arterial injury, because it can provide lower risks of amputation, fasciotomy or compartment syndrome, and nerve injury, as well as shorter length of stay.
Topics: Humans; Endovascular Procedures; Lower Extremity; Vascular System Injuries; Amputation, Surgical; Arteries; Fasciotomy; Vascular Surgical Procedures; Compartment Syndromes; Length of Stay
PubMed: 38678282
DOI: 10.1186/s13017-024-00544-9 -
International Journal of Environmental... Apr 2024The underreporting of laboratory-reported cases of community-based gastrointestinal (GI) infections poses a challenge for epidemiologists understanding the burden and... (Review)
Review
The underreporting of laboratory-reported cases of community-based gastrointestinal (GI) infections poses a challenge for epidemiologists understanding the burden and seasonal patterns of GI pathogens. Syndromic surveillance has the potential to overcome the limitations of laboratory reporting through real-time data and more representative population coverage. This systematic review summarizes the utility of syndromic surveillance for early detection and surveillance of GI infections. Relevant articles were identified using the following keyword combinations: 'early warning', 'detection', 'gastrointestinal activity', 'gastrointestinal infections', 'syndrome monitoring', 'real-time monitoring', 'syndromic surveillance'. In total, 1820 studies were identified, 126 duplicates were removed, and 1694 studies were reviewed. Data extraction focused on studies reporting the routine use and effectiveness of syndromic surveillance for GI infections using relevant GI symptoms. Eligible studies ( = 29) were included in the narrative synthesis. Syndromic surveillance for GI infections has been implemented and validated for routine use in ten countries, with emergency department attendances being the most common source. Evidence suggests that syndromic surveillance can be effective in the early detection and routine monitoring of GI infections; however, 24% of the included studies did not provide conclusive findings. Further investigation is necessary to comprehensively understand the strengths and limitations associated with each type of syndromic surveillance system.
Topics: Humans; Gastrointestinal Diseases; Population Surveillance; Early Diagnosis
PubMed: 38673400
DOI: 10.3390/ijerph21040489 -
Metabolic Syndrome and Related Disorders Apr 2024The duration and quality of sleep are believed to significantly influence the onset of metabolic syndrome (MetS), but existing data lack consistency. The meta-analysis...
The duration and quality of sleep are believed to significantly influence the onset of metabolic syndrome (MetS), but existing data lack consistency. The meta-analysis aims to evaluate the prevalence of the MetS in association with sleep duration. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses 2020 guidelines. A comprehensive search of PubMed, Google Scholar, and Research Gate databases was performed to identify cohort and cross-sectional studies published in English between 2013 and 2023. We included studies that examined the association between sleep duration/quality and MetS, and two independent reviewers assessed study quality and bias using the Newcastle-Ottawa scale. The systematic review included 11 studies with a total of 343,669 participants, including 4 cohort studies and 7 cross-sectional studies. Sample sizes varied widely, ranging from 293 to 162,121 individuals. The studies had different follow-up periods, participant ages ranging from 10 to 80 years, and predominantly male populations. The prevalence of MetS was higher in average sleepers [52%, 95% confidence interval (CI): 40%-64%] compared with short sleepers (13%, 95% CI: 8%-18%) and long sleepers (15%, 95% CI: 9%-24%). Globally, North American countries exhibit the highest prevalence of MetS across short- (25.3%, 95% CI: 4.2%-72.4%) and long-sleeper (22.4%, 95% CI: 2.8%-74.1%) categories, whereas Asian countries experience the highest prevalence among the average sleeper category (58.7%, 95% CI: 44.1%-71.9%). Our meta-analysis indicates an elevated prevalence of MetS in average sleepers. Future research endeavors address delve into the underlying mechanisms and incorporate objective measures to understand the multifaceted connection between sleep patterns and MetS, guiding more effective preventive and management strategies.
PubMed: 38634783
DOI: 10.1089/met.2024.0004 -
Frontiers in Neurology 2024Several clinical trials have suggested that fenfluramine (FFA) is effective for the treatment of epilepsy in Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS)....
OBJECTIVE
Several clinical trials have suggested that fenfluramine (FFA) is effective for the treatment of epilepsy in Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS). However, the exploration of its optimal target dose is ongoing. This study aimed to summarize the best evidence to inform this clinical issue.
MATERIALS AND METHODS
We searched PubMed, Embase (via Ovid), and Web of Science for relevant literature published before December 1st, 2023. Randomized, double-blind, placebo-controlled studies that evaluated the efficacy, safety, and tolerability of FFA in DS and LGS were identified and meta-analysis was performed according to doses. The study was registered with PROSPERO (CRD42023392454).
RESULTS
Six hundred and twelve patients from four randomized controlled trials were enrolled. The results demonstrated that FFA at 0.2, 0.4, or 0.7 mg/kg/d showed significantly greater efficacy compared to placebo in terms of at least 50% reduction ( < 0.001, < 0.001, < 0.001) and at least 75% reduction ( < 0.001, = 0.007, < 0.001) in monthly seizure frequency from baseline. Moreover, significantly more patients receiving FFA than placebo were rated as much improved or very much improved in CGI-I by both caregivers/parents and investigators ( < 0.001). The most common treatment-emergent adverse events were decreased appetite, diarrhea, fatigue, and weight loss, with no valvular heart disease or pulmonary hypertension observed in any participant. For dose comparison, 0.7 mg/kg/d group presented higher efficacy on at least 75% reduction in seizure ( = 0.006) but not on at least 50% reduction. Weight loss ( = 0.002), decreased appetite ( = 0.04), and all-cause withdrawal ( = 0.036) were more common in 0.7 mg/kg/d group than 0.2 mg/kg/d. There was no statistical difference in other safety parameters between these two groups.
CONCLUSION
The higher range of the licensed dose achieves the optimal balance between efficacy, safety, and tolerability in patients with DS and LGS.
CLINICAL TRIAL REGISTRATION
https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42023392454.
PubMed: 38590719
DOI: 10.3389/fneur.2024.1371704 -
The American Journal of Cardiology Jun 2024A strategy of complete revascularization (CR) is recommended in patients with acute coronary syndrome (ACS) and multivessel disease (MVD). However, the optimal timing of... (Meta-Analysis)
Meta-Analysis
A strategy of complete revascularization (CR) is recommended in patients with acute coronary syndrome (ACS) and multivessel disease (MVD). However, the optimal timing of CR remains equivocal. We searched MEDLINE, Embase, the Cochrane Library, and ClinicalTrials.gov for randomized controlled trials (RCTs) comparing immediate CR (ICR) with staged CR in patients with ACS and MVD. Our primary outcomes were all-cause and cardiovascular mortality. All outcomes were assessed at 3 time points: in-hospital or at 30 days, at 6 months to 1 year, and at >1 year. Data were pooled in RevMan 5.4 using risk ratios as the effect measure. A total of 9 RCTs (7,506 patients) were included in our review. A total of 7 trials enrolled patients with ST-segment elevation myocardial infarction (STEMI), 1 enrolled patients with non-STEMI only, and 1 enrolled patients with all types of ACS. There was no difference between ICR and staged CR regarding all-cause and cardiovascular mortality at any time window. ICR reduced the rate of myocardial infarction and decreased the rate of repeat revascularization at 6 months and beyond. The rates of cerebrovascular events and stent thrombosis were similar between the 2 groups. In conclusion, the present meta-analysis demonstrated a lower rate of myocardial infarction and a reduction in repeat revascularization at and after 6 months with ICR strategy in patients with mainly STEMI and MVD. The 2 groups had no difference in the risk of all-cause and cardiovascular mortality. Further RCTs are needed to provide more definitive conclusions and investigate CR strategies in other ACS.
Topics: Humans; Acute Coronary Syndrome; Randomized Controlled Trials as Topic; Myocardial Revascularization; Percutaneous Coronary Intervention; Time Factors; Time-to-Treatment; ST Elevation Myocardial Infarction
PubMed: 38582316
DOI: 10.1016/j.amjcard.2024.03.037 -
PloS One 2024Cardiovascular diseases (CVD) are the leading causes of morbidity and mortality. Heart rate variability (HRV) represents the modulatory capacity of the autonomous... (Clinical Trial)
Clinical Trial Meta-Analysis
BACKGROUND
Cardiovascular diseases (CVD) are the leading causes of morbidity and mortality. Heart rate variability (HRV) represents the modulatory capacity of the autonomous nervous system and influences mortality. By surveying this meta-analysis, we investigated the impact of physical activity on HRV.
METHODS
Databases, online journal libraries and clinical trial registries were searched for publications of randomized controlled and non-randomized controlled trials concerning adults with coronary artery disease (CAD)/ischemic heart disease (IHD), congestive heart failure (CHF), peripheral arterial disease (PAD) or after acute coronary syndrome (ACS) joining an intervention group with physical activity or a control group with usual care or no intervention. Extracted time-domain and frequency-domain parameter of HRV were analyzed in a meta-analysis using a random effect model. Subgroup analyses concerning intervention type, study design and type of heart disease and sensitivity analysis were performed.
RESULTS
Significant results were obtained for RR-Interval (p = 0.05) and standard deviation of Normal-to-Normal intervals (SDNN) (p = 0.01) for short-term assessment and for the ratio of low-frequency power (LF) to high-frequency power (HF) (p = 0.05) for 24-hour assessment. Subgroup analyses also resulted significant: root-mean-square difference of successive normal R-R intervals (RMSSD) (p = 0.01), SDNN (p = 0.02) and HF (p < 0.01) concerning CHF.
CONCLUSION
We were able to demonstrate the positive impact of physical activity on HRV, especially in patients with CHF. Cardiac rehabilitation exercise programs need to be individualized to identify the most beneficial method of training for improving the prognosis of patients with CVD.
Topics: Adult; Humans; Heart Rate; Coronary Artery Disease; Myocardial Ischemia; Heart Failure; Randomized Controlled Trials as Topic
PubMed: 38578755
DOI: 10.1371/journal.pone.0299793 -
Current Problems in Cardiology May 2024Heart failure is a clinical syndrome with different etiologies and phenotypes. For all forms, supervised exercise training and individual physical activity are class IA... (Meta-Analysis)
Meta-Analysis
A review regarding the article 'Supervised exercise training in heart failure with preserved ejection fraction: A systematic review and meta-analysis of randomized controlled trials'.
Heart failure is a clinical syndrome with different etiologies and phenotypes. For all forms, supervised exercise training and individual physical activity are class IA recommendations in current guidelines. Over the past two decades it has become recognized that physical deconditioning may play a key role in the progression of symptoms and poor outcomes. A number of prior studies have assessed the ability of exercise training to improve functional capacity in patients with HF. Most of these previous studies showed positive effects of exercise training on exercise capacity, quality of life, and biomarkers and observed relatively few complications during training. These studies also suggested that exercise training might improve survival and decrease HF hospitalizations. Despite the failure of pharmacological interventions to reduce mortality and hospitalization in HFpEF, exercise training has shown efficacy in improving maximal exercise capacity, assessed through peak oxygen consumption (peak V˙o2), in clinically stable patients. Nonetheless, there remains a safety concern regarding exercise training in HF. Although the complication rate for patients participating in cardiac rehabilitation has been reported to be extremely low, the complication rate for HF patients in clinical trials of exercise training has been substantially higher. One potential reason is the 100-fold increased risk for myocardial infarction and 50-fold increased risk of sudden death that exercisers, who are habitually sedentary, experience when initiating exercise training. Additionally, comprehensive insights into the potential effects of exercise training, not only on critical clinical outcomes such as hospitalization, mortality, and cardiovascular events but also on cost-effectiveness, require longer-term trials.
Topics: Humans; Heart Failure; Quality of Life; Exercise Therapy; Stroke Volume; Randomized Controlled Trials as Topic; Exercise; Exercise Tolerance
PubMed: 38492623
DOI: 10.1016/j.cpcardiol.2024.102518 -
European Journal of Gastroenterology &... May 2024Non-alcoholic fatty liver disease (NAFLD), characterized by hepatic steatosis without heavy alcohol consumption or other chronic conditions, encompasses a spectrum from... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND OBJECTIVE
Non-alcoholic fatty liver disease (NAFLD), characterized by hepatic steatosis without heavy alcohol consumption or other chronic conditions, encompasses a spectrum from non-alcoholic fatty liver to non-alcoholic steatohepatitis leading to cirrhosis. This analysis aimed to investigate the correlation between NAFLD and carotid intimal media thickness (C-IMT), a non-invasive surrogate for atherosclerosis.
METHODOLOGY
Database searches, including PubMed, EMBASE and Cochrane Library, yielded studies up to April 2023. Included were studies exploring the NAFLD-C-IMT relationship in populations aged >18 years. Exclusions comprised non-English papers, those involving animals or pediatric populations and studies lacking control groups.
RESULTS
No statistical significance was noted between mild and moderate NAFLD compared to the control group regarding C-IMT [95% confidence intervals (CI): -0.03, 0.12] and (95% CI: -0.03, 0.21), respectively. There was a statistically significant difference only in the Severe NAFLD group ( P value 0.03). NAFLD with and without metabolic syndrome showed statistically significant differences compared to control regarding C-IMT (95% CI: 0.04, 0.12) and (95% CI: 0.01, 0.07), respectively. Fifty-nine studies were mentioned without classification of NAFLD severity and revealed a high statistically significant difference between NAFLD and controls regarding C-IMT with (95% CI: 0.09, 0.12, P < 0.00001). Stratified analysis according to sex was done in two studies and revealed statistical differences between NAFLD and control regarding C-IMT in both groups.
CONCLUSION
This meta-analysis underscores a significant association between NAFLD and increased C-IMT, emphasizing the importance of assessing C-IMT in NAFLD patients to identify cardiovascular risk and tailor therapeutic interventions for improved patient outcomes.
Topics: Animals; Child; Humans; Non-alcoholic Fatty Liver Disease; Carotid Intima-Media Thickness; Atherosclerosis; Metabolic Syndrome; Carotid Arteries; Risk Factors
PubMed: 38489662
DOI: 10.1097/MEG.0000000000002721 -
Cureus Feb 2024Marfan syndrome (MFS) is a progressive connective tissue disease with a broad range of clinical manifestations. We sought to establish the spectrum of structural... (Review)
Review
Marfan syndrome (MFS) is a progressive connective tissue disease with a broad range of clinical manifestations. We sought to establish the spectrum of structural valvular abnormalities as cardiovascular involvement has been identified as the most life-threatening aspect of the syndrome. This was a systematic review with a meta-analysis of studies indexed in Medline from the inception of the database to November 7, 2022. Using the random-effects model, separate Forest and Galbraith plots were generated for each valvular abnormality assessed. Heterogeneity was assessed using the statistics whilst funnel plots and Egger's test were used to assess for publication bias. From a total of 35 studies, a random-effects meta-analysis approximated the pooled summary estimates for the prevalence of cardiac valve abnormalities as mitral valve prolapse 65% (95% CI: 57%-73%); mitral valve regurgitation 40% (95% CI: 29%-51%); aortic valve regurgitation 40% (95% CI: 28%-53%); tricuspid valve prolapse 35% (95% CI: 15%-55%); and tricuspid valve regurgitation 43% (95% CI: 8%-78%). Only one study reported on the involvement of the pulmonary valve (pulmonary valve prolapse was estimated at 5.3% (95% CI: 1.9%-11.1%) in a cohort of 114 patients with MFS). We believe this study provides a description of the structural valvular disease spectrum and may help inform providers and patients in understanding the clinical history of MFS in the current treatment era with its increased life expectancy.
PubMed: 38487153
DOI: 10.7759/cureus.54141