Background Sudden cardiac arrest is the leading mode of death in the United States. Epilepsy affects 1% of Americans; yet epidemiological data show a prevalence of 4% in cases of sudden cardiac arrest. Sudden unexpected death in epilepsy (SUDEP) may share features with sudden cardiac arrest. The objective of this study was to report autopsy and genomic findings in a large cohort of SUDEP cases. Methods and Results Mayo Clinic Sudden Death Registry containing cases (ages 0–90 years) of sudden unexpected and unexplained deaths 1960 to present was queried. Exome sequencing performed on decedent cases. From 13 687 cases of sudden death, 656 (4.8%) had a history of seizures, including 368 confirmed by electroencephalography, 96 classified as SUDEP, 58 as non‐SUDEP, and 214 as unknown (insufficient records). Mean age of death in SUDEP was 37 (±19.7) years; 56 (58.3%) were male; 65% of deaths occurred at night; 54% were found in bed; and 80.6% were prone. Autopsies were obtained in 83 cases; bystander coronary artery disease was frequently reported as cause of death; nonspecific fibrosis was seen in 32.6% of cases, in structurally normal hearts. There were 4 cases of Dravet syndrome with pathogenic variants in SCN1A gene. Using whole exome sequencing in 11 cases, 18 ultrarare nonsynonymous variants were identified in 6 cases including CACNB2, RYR2, CLNB, CACNA1H, and CLCN2 . Conclusions This study examined one of the largest single‐center US series of SUDEP cases. Several cases were reclassified as SUDEP, 15% had an ECG when alive, and 11 (11.4%) had blood for whole exome sequencing analysis. The most frequent antemortem genetic finding was pathogenic variants in SCN1A ; postmortem whole exome sequencing identified 18 ultrarare variants.
Melioidosis is a tropical infectious disease with diverse clinical presentations. We aimed to investigate the characteristics and mortality risk factors of patients diagnosed with melioidosis in the past 10 years. This was a retrospective cohort study conducted at a quaternary care centre in South India. Clinical, demographic, and biochemical data in patients diagnosed with melioidosis with cultures were collected between January 2011 and December 2020 from medical records. Logistic regression analysis was performed to screen mortality risk factors of melioidosis in addition to descriptive statistics and chi-square analysis. Seventy-three melioidosis patients’ records were analysed, and the most common comorbidity was type 2 diabetes mellitus (n = 53, 72.6%). The patients showed diverse presentations: pulmonary involvement, 30 (41.1%); splenomegaly, 29 (39.7%); abscesses and cutaneous involvement, 18 (24.7%); lymph node, 10 (13.7%); arthritis and osteomyelitis, 9 (12.3%); and genitourinary infection, 4 (5.4%). The mortality was noted to be 15 (20.5%). Logistic regression analysis indicated that chronic kidney disease (OR = 14.0), CRP >100 IU/L (OR = 6.964), and S. albumin <3 gm/dl (OR = 8.0) were risk factors associated with mortality and can guide in risk stratification. Hypoalbuminemia is a novel mortality risk factor, detected in this study, and requires further investigation to validate its utility as a prognostic marker and reveal possible therapeutic benefits in clinical correction.
Stenosis or occlusion of the mesenteric arterial circulation is the predominant causative factor of chronic mesenteric ischemia (CMI) (1). While acute mesenteric ischemia has a dramatic presentation, CMI has an insidious course (2). The natural course of CMI is gradual with non-specific abdominal pain and unremarkable physical findings. Hence diagnosis of CMI is often delayed by months or even years (3). Atherosclerosis is the leading cause of CMI (3,4). The process of atherosclerosis is a generalized process affecting all vascular beds (such as renal artery, coronary artery, peripheral artery etc.) (5). However, variability of sequence and severity of affectation at various sites exists. Numerous studies have demonstrated asymptomatic arterial narrowing in vascular territory during evaluation of symptomatic lesions involving another region (6,7). Limited prospective data exists regarding mesenteric arterial stenosis (MAS) (5,8,9). Asymptomatic MAS Summary Coronary artery disease (CAD) patients might have concomitant mesenteric artery stenosis (MAS). Identification of risk factors predicting mesenteric artery involvement might guide screening high risk individuals. A dilemma of intervention in radiologically severe MAS exists. This prospective study included CAD patients undergoing a coronary angiogram. A concomitant mesenteric angiogram was performed to diagnose MAS. Clinically relevant MAS (CR-MAS) was defined as i) presence of classical mesenteric angina with any degree of MAS or ii) severe stenosis (> 70%) involving two or more vessels. Risk factors for CR-MAS were studied and followed up prospectively. One hundred and three patients were included in the study. Left anterior descending artery was the most common involved coronary artery and was affected in 73% (n = 76). Mesenteric angiogram revealed 42.7% (n = 44) to have MAS. CR-MAS was present in 21 patients (20.4%). Involvement of celiac axis, superior mesenteric artery and inferior mesenteric artery was 22, 39 and 15 respectively. Multivariate analysis showed mesenteric angina (p < 0.01), diabetes mellitus (p < 0.01) and peripheral artery disease (p < 0.01) to be independent predictors of CR-MAS. At a median follow-up of 36 months (range 29-48 months), there was no acute mesenteric ischemia. In patients with CR-MAS, 16 (76.2%) had symptomatic improvement and 5 (23.8%) had stable symptoms. Three patients underwent angioplasty of superior mesenteric artery for persistent symptoms. Chronic CAD patients had a high prevalence of MAS. Mesenteric angina, diabetes mellitus and peripheral artery disease are independent predictors of CR-MAS. Intervention for MAS should be dictated by symptoms and not radiological severity. Lifestyle modification and medication for atherosclerotic ischemic heart disease probably prevents acute mesenteric ischemia in CAD patients.
Background: While many factors are known to play a role in outcomes of sepsis, the role of micronutrients such as zinc remains a gray area. This study assesses the correlation of plasma zinc levels with mortality and severity of sepsis. Objective was to study the association between plasma zinc levels with mortality and severity of sepsis.Methods: Comparative prospective observational study which included 89 patients with proven sepsis according to the society of critical care medicine (SCCM) guidelines. The study was conducted at a tertiary care centre in South India. A total of 89 patients who were admitted into the medical ICU directly from ER, from December 2014 to August 2015 were chosen for the study after satisfying specific inclusion criteria and divided into 2 outcome groups based on mortality.Results: There was a significant association between plasma zinc (categorized as low, normal and high plasma zinc) and outcome. While the severity of sepsis as per SOFA score on admission did not have an association, there was a significant association between plasma zinc and the 48-hour SOFA score.Conclusions: Higher plasma zinc values had lower mortality and lower 48 hours SOFA score, strengthening the hypothesis regarding the role of zinc in the immune response to sepsis. More research is needed regarding the role of zinc in assessing the severity and predicting the mortality of patients with sepsis.
BackgroundCompelling evidence links obstructive sleep apnea (OSA), a prevalent sleep disorder, to heightened morbidity and mortality. Individuals with family history (FH) of OSA exhibit increased risk of developing this sleep disorder, suggesting that genetics, in addition to demographic and lifestyle factors, are likely implicated in the pathogenesis of OSA. However, it is unclear whether a positive FH of OSA predisposes to other unfavorable health outcomes. In this regard, data on its impact on vulnerability to obesity, both a precursor and a consequence of OSA, are lacking.ObjectiveWe sought to assess the association between FH of OSA and risk of obesity.MethodsThe study population consisted of 612 individuals (66% male, age 48.1±17.3 years) who took part in research studies performed in the Cardiovascular/Sleep Laboratory at Mayo Clinic and had complete family history data. FH of OSA and obesity were determined from questionnaires. Demographics and medical comorbidities including OSA diagnosis were obtained from self‐reports. Body mass index (BMI, kg/m2) was calculated from height and weight measures and used to determine obesity status as follows: normal weight (BMI <25 kg/m2), overweight (BMI 25–29.9 kg/m2), and obese (BMI ≥30 kg/m2). Measurements of waist circumference were obtained to determine central obesity (defined as waist circumference ≥88 cm in women and ≥102 cm in men).ResultsFH of OSA was reported by twelve percent of the sample (n=72). Individuals with FH of OSA were younger and more likely to be female than those without (age: 40.8±12.6 years vs 49.1±17.6 years, P<0.0001; sex: 48.6% vs 32.2%, P=0.008). Those with positive FH had higher BMI (31.5±6.8 kg/m2 vs 29.2±7 kg/m2, P=0.009), were more frequently obese (59.7% vs 39.8%, P=0.007), and had higher prevalence of central obesity (67.7% vs 53.8%, P=0.036). Multivariable regression models showed the FH of OSA was associated with 3.2‐times greater risk of obesity (95% CI 1.7–5.9, P=0.0002) and with 2.3‐times greater risk of central obesity (95% CI 1.2–4.5, P=0.011) after correcting for age, sex, OSA diagnosis, and FH of obesity.ConclusionFamily history of OSA is accompanied by an increased likelihood of obesity, especially central obesity, even if subjects with FH of OSA are much younger. This relationship is independent of conventional risk factors, including OSA diagnosis, suggesting that comorbid OSA in the offspring is unlikely to be implicated. Research addressing the potential pathophysiological mechanisms underlying our findings is warranted.Support or Funding InformationResearch support: VKS and PS are supported by NIH HL65176. NC is supported by American Heart Association grant 16SDG27250156, and Mayo Clinic CCaTS grant Marie Ingalls Cardiovascular Research Career Development Fund.This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.