Background/objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant.
View Article and Find Full Text PDFPatients with heart failure with preserved ejection fraction (HFpEF) are burdened by multiple diet-sensitive comorbidities, including obesity and malnutrition. Despite this, a low percentage of patients with HFpEF have been enrolled in dietary intervention trials in heart failure and few dietary interventions have been conducted in HFpEF exclusively. This scoping review will examine available evidence regarding dietary interventions in patients with HFpEF, highlight existing gaps in knowledge, and discuss emerging dietary therapies in this population.
View Article and Find Full Text PDFIntroduction: The ActiGraph (AG) accelerometer is widely used to assess physical activity (PA) in heart failure (HF) patients. However, the validity of the AG in this population remains unexplored.
Objective: Therefore, this study examined the criterion validity of the AG-GT9X for measuring step counts (SC) and energy expenditure (EE) among HF patients.
Background & Aims: Skeletal muscle (SM) health has significant prognostic value in geriatric and chronic disease populations, yet its assessment is frequently omitted due to challenges in evaluation. The creatinine-to-cystatin C ratio (CCR) is a simple serum-based measure that associates well with measured SM quantity (myopenia) and strength, but evidence for its association with SM quality (myosteatosis) is limited and conflicting. This study investigated the association between CCR and computed tomography (CT) measures of myopenia and myosteatosis.
View Article and Find Full Text PDFIntroduction: Medication for opioid use disorder (MOUD) is the most efficacious treatment for opioid use disorder (OUD). MOUD uptake and continuation may be impacted by health concerns, including weight gain, and social factors, such as food insecurity, that vary between men and women. This study aimed to describe sex and gender differences in body mass index (BMI) and weight-related demographic, psychosocial, and clinical characteristics among adults receiving buprenorphine for OUD.
View Article and Find Full Text PDFEnteric neural stem cell (ENSC) therapy offers great promise for neurointestinal diseases; however, current isolation methods yield insufficient neurons for regenerative applications. Multiomic profiling of enteric glial cells (EGCs) suggests that subpopulations within myenteric ganglia (MyGa) are a reservoir of highly neurogenic ENSCs. Here, we describe protocols to enrich for intraganglionic EGCs by isolating intact fragments of MyGa, generating cultures with higher neuronal purity than traditional methodologies isolating intramuscular single cells (IM-SCs).
View Article and Find Full Text PDFEur Heart J Cardiovasc Imaging
October 2024
Aims: The purpose of this study was to characterize sex differences in the relationship between body composition and cardiac structure and function. In secondary analyses, we explored pathophysiologic mediators of these relationships.
Methods And Results: In a cross-sectional analysis of 25,063 UK Biobank participants (54% female, median age 55 years), the sex-specific associations of visceral adipose tissue volume (VAT), appendicular lean mass (ALM), and muscle fat infiltration (MFI) with cardiac magnetic resonance (CMR) measures of cardiac structure and function were assessed using linear regression models.
Wilderness Environ Med
December 2024
Fishing is a common recreational activity in the United States, with over 29 million registered fishers. Although not inherently dangerous, commonly seen injuries from fishing include embedded fishhooks and injury from flora and fauna. Emergency department (ED) physicians need a basic understanding of how to treat these less-than-frequent injuries.
View Article and Find Full Text PDFThe enteric nervous system (ENS) consists of an extensive network of neurons and glial cells embedded within the wall of the gastrointestinal (GI) tract. Alterations in neuronal distribution and function are strongly associated with GI dysfunction. Current methods for assessing neuronal distribution suffer from undersampling, partly due to challenges associated with imaging and analyzing large tissue areas, and operator bias due to manual analysis.
View Article and Find Full Text PDFPatients undergoing anthracycline-based cancer treatments have an increased risk of heart failure or worsening preexisting heart failure as well as adverse metabolic outcomes such as malnutrition and cachexia. This retrospective study explored the impact of sodium-glucose cotransporter 2 inhibitors (SGLT2i) on these outcomes in patients with heart failure previously treated with anthracyclines. Using the TriNetX research network, we identified 1545 patients with a history of SGLT2i use and 17,681 patients without a history of SGLT2i use.
View Article and Find Full Text PDFJ Appl Physiol (1985)
September 2024
Electronic nicotine delivery systems, often referred to as e-cigarettes, are popular tobacco products frequently advertised as safer alternatives to traditional cigarettes despite preliminary data suggesting a potential negative cardiovascular impact. Cardiorespiratory fitness is a critical cardiovascular health marker that is diminished in individuals who consume traditional tobacco products. Whether the use of e-cigarettes impacts cardiorespiratory fitness is currently unknown.
View Article and Find Full Text PDFBackground: Sarcopenia and hypertension are independently associated with worse cardiovascular disease (CVD) risk and survival. While individuals with sarcopenia may benefit from intensive blood pressure (BP) control, the increased vulnerability of this population raises concerns for potential harm. This study aimed to evaluate clinical and safety outcomes with intensive (target <120 mm Hg) versus standard (<140 mm Hg) systolic BP targets in older hypertensive adults with sarcopenia compared with nonsarcopenic counterparts in the SPRINT (Systolic Blood Pressure Intervention Trial).
View Article and Find Full Text PDFIntroduction: Epidemiological studies have consistently shown an inverse association between cigarette smoking and Parkinson's disease. Literature indicates that both current and former smokers have a reduced risk of developing PD compared to non-smokers. If smoking protects against Parkinson's disease risk or, conversely, smoking habit is abated due to the disease itself, according to the reverse causation, is still an unsolved question.
View Article and Find Full Text PDFPurpose Of Review: Sarcopenic obesity (SO), defined as the coexistence of excess fat mass and reduced skeletal muscle mass and strength, has emerged as an important cardiovascular risk factor, particularly in older adults. This review summarizes recent findings on the diagnosis, prevalence, health impacts, and treatment of SO.
Recent Findings: Growing evidence suggests SO exacerbates cardiometabolic risk and adverse health outcomes beyond either condition alone; however, the heterogeneity in diagnostic criteria and the observational nature of most studies prohibit the evaluation of a causal relationship.
Recurrent headaches, encompassing migraine and tension-type headaches, represent prevalent conditions affecting individuals across different age groups, exerting a substantial influence on daily functioning and quality of life. Headaches serve as common manifestations of underlying health issues. Among these, celiac disease, an autoimmune disorder activated by gluten consumption, has emerged as a noteworthy concern.
View Article and Find Full Text PDFAims: Adults with heart failure with preserved ejection fraction (HFpEF) responded more favourably to an exercise intervention compared with those with reduced ejection fraction. This study explores factors that contributed to this response, focusing on the qualitative perceptions of adults with HFpEF enrolled in an exercise intervention.
Methods And Results: This qualitative descriptive study is a secondary analysis of longitudinal interviews collected at 3, 6, 12, and 18 months from participants with HFpEF enrolled in a randomized controlled trial testing an intervention to promote adherence to exercise.
Hydrogen peroxide (HO) is a biomarker relevant for oxidative stress monitoring. Most chronic airway diseases are characterized by increased oxidative stress. To date, the main methods for the detection of this analyte are expensive and time-consuming laboratory techniques such as fluorometric and colorimetric assays.
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