Premature death

OBJECTIVE: To investigate the associations across genetic and lifestyle factors with lifespan. DESIGN: A longitudinal cohort study. SETTING: UK Biobank. PARTICIPANTS: 353 742 adults of European ancestry, who were recruited from 2006 to 2010 and were followed up until 2021. EXPOSURES: A polygenic risk score for lifespan with long (<lowest quintile), intermediate (quintiles 2 to 4), and short (>highest quintile) risk categories and a weighted healthy lifestyle score, including no current smoking, moderate alcohol consumption, regular physical activity, healthy body shape, adequate sleep duration, and a healthy diet, categorised into favourable, intermediate, and unfavourable lifestyles...

BACKGROUND: People with opioid use disorder (OUD) are at risk of premature death and can benefit from palliative care. We sought to compare palliative care provision for decedents with and without OUD. METHODS: We conducted a cohort study using health administrative databases in Ontario, Canada, to identify people who died between July 1, 2015, and Dec. 31, 2021. The exposure was OUD, defined as having emergency department visits, hospital admissions, or pharmacologic treatments suggestive of OUD within 3 years of death...

Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive neurodegenerative disease caused by deficient activity of the lysosomal enzyme arylsulfatase A (ARSA), resulting in sulfatide accumulation and subsequent demyelination and neuronal damage within the central and peripheral nervous systems. Three clinical forms of MLD have been described, based on age at symptom onset. The most frequent and severe forms have an early onset, with the disease progressing rapidly toward severe motor and cognitive regression and ultimately premature death...

AIM: To investigate the association of gestational diabetes mellitus (GDM) with premature mortality and cardiovascular (CVD) outcomes and risk factors. MATERIALS AND METHODS: Parous women recruited to the UK Biobank cohort during 2006-2010 were followed up from their first delivery until 31 October 2021. The data were linked to Hospital Episode Statistics and mortality registries. Multivariate Cox proportional hazard models investigated associations of GDM with all-cause mortality, CVD, diabetes, hypertension and dyslipidaemia...

BACKGROUND & AIMS: Intrahepatic cholangiocarcinoma (iCCA) is a fatal malignancy of the biliary system. The lack of a detailed understanding of oncogenic signaling or global gene expression alterations has impeded clinical iCCA diagnosis and therapy. The role of protein lactylation, a newly unraveled post-translational modification that orchestrates gene expression, remains largely elusive in the pathogenesis of iCCA. METHODS: Proteomics analysis of clinical iCCA specimens and adjacent tissues was performed to screen for proteins aberrantly lactylated in iCCA...

BACKGROUND: Exposure to high levels of environmental air pollution causes several health outcomes and has been associated with increased mortality, premature mortality, and morbidity. Ambient exposure to PM2.5 is currently considered the leading environmental risk factor globally. A causal relationship between exposure to PM2.5 and the contribution of this exposure to cardiovascular morbidity and mortality was already demonstrated by the American Heart Association. METHODS: To estimate the burden of mortality attributable to environmental risk factors, a comparative risk assessment was performed, considering a "top-down" approach...

Primary ovarian insufficiency (POI) in younger women (under 40) manifests as irregular periods, high follicle-stimulating hormone (FSH), and low estradiol (E2), often triggered by chemotherapy. Though mesenchymal stem cell (MSC) therapy shows promise in treating POI, its exact mechanism remains unclear. This study reveals that human umbilical cord-derived MSCs (hUC-MSCs) can protect ovarian granulosa cells (GCs) from cyclophosphamide (CTX)-induced ferroptosis, a form of cell death driven by iron accumulation...

A less than one-month-old infant with symptoms of rhinitis died unexpectedly in his sleep. He was not born prematurely and had no known underlying disease. Cerebrospinal fluid, nasopharyngeal and lung samples, and rectal swab were found to be positive for subgroup A rhinovirus, while the blood was negative. This case highlights the important finding that the rhinovirus, a common pathogen associated with upper respiratory tract infections, can sometimes, as the only pathogen, lead to complications such as a cerebrospinal infection and be involved in the sudden infant death syndrome (SIDS)...

Objectives: The study aimed to develop a deep learning-based edge AI model deployed on electrocardiograph (ECG) devices for the real-time detection of atrial fibrillation (AF) risk during sinus rhythm (SR) using standard 10 s, 12-lead electrocardiograms (ECGs). Methods: A novel approach was used to convert standard 12-lead ECGs into binary images for model input, and a lightweight convolutional neural network (CNN)-based model was trained using data collected by the Japan Agency for Medical and Research Development (AMED) between 2019 and 2022...

BACKGROUND: Access to health care services is a basic human right, and an individual's health and overall quality of life may suffer as a result of barriers to accessing health services. Access to comprehensive and quality health care is fundamental for promoting and maintaining health, preventing and treating diseases, and reducing premature deaths. However, only half of the African population has access to modern health services. Therefore, this study aimed to assess the health care access and associated factors among female youths in low-income East African countries...

INTRODUCTION: Sarcopenia is characterized by the loss of muscle mass and strength associated with aging; however, individuals with chronic diseases are at risk at the early stages. In rheumatoid arthritis (RA), sustained chronic inflammation influences muscle deterioration. It may expedite the development of sarcopenia, which has been linked to physical disability, cardiovascular events, disease activity of RA, and premature death. We aimed to compare the inflammatory profiles of patients with RA with and without sarcopenia...

Genes of the Sprouty family (Spry1-4) restrain signaling by certain receptor tyrosine kinases. Consequently, these genes participate in several developmental processes and function as tumor suppressors in adult life. Despite these important roles, the biology of this family of genes still remains obscure. Here we show that Sprouty proteins are general mediators of cellular senescence. Induction of cellular senescence by several triggers in vitro correlates with upregulation of Sprouty protein levels. More importantly, overexpression of Sprouty genes is sufficient to cause premature cellular senescence, via a conserved N-terminal tyrosine (Tyrosine 53 of Sprouty1)...

A number of countries including the UK are currently experiencing large outbreaks of measles affecting mainly young children but also adolescents and young adults. Women of childbearing age are a particular group of concern because the 1988 Wakefield Lancet paper, which falsely asserted a connection between the MMR vaccine and autism, was associated with a large and sharp decline in childhood MMR uptake over several years. This has left large cohorts of non-immune adolescents and young adults (born between 1998 and 2004), including young women who are now of childbearing age and remain susceptible to measles as well as rubella...

BACKGROUND: Hypertrophic Cardiomyopathy (HCM) is characterized by unexplained left ventricle hypertrophy (LVH) ≥15 mm. The condition is often hereditary and family screening is recommended to reduce the risk of adverse disease complications and premature death among relatives. Correct diagnosis of index patients is important to ensure that only relatives at risk of disease development are invited for family screening. PURPOSE: To investigate if patients with ICD-10 codes for HCM (DI421) or hypertrophic obstructive cardiomyopathy (DI422) fulfilled recognised diagnostic criteria...

IMPORTANCE: Extensive evidence documents health disparities for lesbian, gay, and bisexual (LGB) women, including worse physical, mental, and behavioral health than heterosexual women. These factors have been linked to premature mortality, yet few studies have investigated premature mortality disparities among LGB women and whether they differ by lesbian or bisexual identity. OBJECTIVE: To examine differences in mortality by sexual orientation. DESIGN, SETTING, AND PARTICIPANTS: This prospective cohort study examined differences in time to mortality across sexual orientation, adjusting for birth cohort...

BACKGROUND: Type 1 diabetes (T1D) is associated with an increased risk of premature death compared to those without T1D, yet perceptions of dying have not been well studied. The purpose of this secondary analysis of existing data was to explore the fears of adolescents with T1D and their parents related to the possibility of death due to T1D. METHOD: A reflexive thematic analysis was used to examine data from interviews conducted with adolescents with T1D and their parents who participated in a primary grounded theory study of interdependence in T1D management...

Dravet syndrome is a developmental and epileptic encephalopathy (DEE) characterized by intractable seizures, comorbidities related to developmental, cognitive, and motor delays, and a high mortality burden due to sudden unexpected death in epilepsy (SUDEP). Most Dravet syndrome cases are attributed to SCN1A haploinsufficiency, with genetic modifiers and environmental factors influencing disease severity. Mouse models with heterozygous deletion of Scn1a recapitulate key features of Dravet syndrome, including seizures and premature mortality; however, severity varies depending on genetic background...

BACKGROUND: Phospholamban (PLN) is a key regulator of cardiac function connecting adrenergic signaling and calcium homeostasis. The R9C mutation of PLN is known to cause early onset dilated cardiomyopathy (DCM) and premature death, yet the detailed mechanisms underlie the pathologic remodeling process are not well defined in human cardiomyocytes. The aim of this study is to unravel the role of PLN R9C in DCM and identify potential therapeutic targets. METHODS: PLN R9C knock-in (KI) and patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) were generated and comprehensively examined for their expression profile, contractile function, and cellular signaling under both baseline conditions and following functional challenges...

Background and aim Oral iron therapy is effective in treating iron deficiency anemia in outpatient pregnant women but has not been studied in inpatient pregnant women. We aimed to evaluate the effect of oral iron therapy versus no therapy during hospitalization on maternal and neonatal outcomes in women with anemia who are hospitalized for pregnancy-related morbidities (i.e., preterm premature rupture of membranes, preterm labor, pre-eclampsia, abnormal placentation, or fetal monitoring). Methods A retrospective, single-center study was conducted in hospitalized pregnant women (2018 to 2020) with inpatient stays of more than three days...

BACKGROUND: In cancer biology, circRAD18 promotes glucose metabolism, potentially indicating its involvement in glucose metabolism-related disorders, such as gestational diabetes mellitus (GDM). The present study investigated the predictive role of circRAD18 in GDM and its potential adverse effects. METHODS: A total of 482 women who intended to get pregnant in short-term were enrolled. For those who successfully conceived, plasma samples were collected and followed up until delivery to monitor the occurrence of GDM and its associated adverse events...