Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.54069
Abstract: Key Points Question What proportion of infant mortality is explained by genetic diseases? Findings In this cohort study of 112 infant deaths, single-locus genetic diseases were the most common antecedent of infant mortality (41%). Treatments… read more here.
Keywords: genetic diseases; infant mortality; reclassification etiology; etiology ... See more keywords
Severity and Etiology of Incident Stroke in Patients Screened for Atrial Fibrillation vs Usual Care and the Impact of Prior Stroke
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Neurology"
DOI: 10.1001/jamaneurol.2022.3031
Abstract: This post hoc analysis of the Atrial Fibrillation Detected by Continuous Electrocardiogram Monitoring Using Implantable Loop Recorder to Prevent Stroke in High-Risk Individuals (LOOP) randomized clinical trial investigates if implantable loop recorder screening for atrial… read more here.
Keywords: atrial fibrillation; etiology; severity etiology; prior stroke ... See more keywords
The Genetic Architecture of Major Depressive Disorder in Han Chinese Women
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Psychiatry"
DOI: 10.1001/jamapsychiatry.2016.3578
Abstract: Importance Despite the moderate, well-demonstrated heritability of major depressive disorder (MDD), there has been limited success in identifying replicable genetic risk loci, suggesting a complex genetic architecture. Research is needed to quantify the relative contribution… read more here.
Keywords: risk; etiology; mdd; genetic architecture ... See more keywords
Etiology of the Broad Avoidant Restrictive Food Intake Disorder Phenotype in Swedish Twins Aged 6 to 12 Years
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Psychiatry"
DOI: 10.1001/jamapsychiatry.2022.4612
Abstract: Key Points Question To what extent do genetic and environmental factors contribute to the liability to avoidant restrictive food intake disorder (ARFID)? Findings In this nationwide Swedish twin study including 16 951 twin pairs aged 6… read more here.
Keywords: etiology; aged years; avoidant restrictive; restrictive food ... See more keywords
Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Psychiatry"
DOI: 10.1001/jamapsychiatry.2022.4974
Abstract: Key Points Question To what extent are shared genetic determinants in the comorbidities and associations between gastrointestinal tract diseases and psychiatry disorders involved in the gut-brain axis? Findings In this genome-wide pleiotropic association study using… read more here.
Keywords: brain axis; shared genetic; etiology; gut brain ... See more keywords
Determining an infectious or autoimmune etiology in encephalitis
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51608
Abstract: Early presentation and workup for acute infectious (IE) and autoimmune encephalitis (AE) are similar. This study aims to identify routine laboratory markers at presentation that are associated with IE or AE. read more here.
Keywords: etiology; determining infectious; etiology encephalitis; autoimmune etiology ... See more keywords
The role of dietary calcium in the etiology of childhood rickets in the past and the present
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Human Biology"
DOI: 10.1002/ajhb.23819
Abstract: For more than two centuries, lack of sunlight has been understood to cause vitamin D deficiency and documented as a primary cause of rickets. As such, evidence of rickets in the archeological record has been… read more here.
Keywords: dietary calcium; calcium; calcium deficiency; role ... See more keywords
ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26380
Abstract: Rapid‐onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD), is a severe pediatric disorder of uncertain etiology resulting in hypothalamic dysfunction and frequent sudden death. Frequent co‐occurrence of neuroblastic tumors have fueled suspicion of… read more here.
Keywords: autoantibodies associated; pediatric paraneoplastic; zscan1 autoantibodies; associated pediatric ... See more keywords
Effect Modification between Genes and Environment and Parkinson's Disease Risk
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26467
Abstract: Parkinson's disease (PD) is a complex neurodegenerative condition in which genetic and environmental factors interact to contribute to its etiology. Remarkable progress has been made in deciphering disease etiology through genetic approaches, but there is… read more here.
Keywords: disease; modification genes; etiology; parkinson disease ... See more keywords
Genomic strategies to untangle the etiology of autism: A primer
Sign Up to like & getrecommendations! Published in 2022 at "Autism Research"
DOI: 10.1002/aur.2844
Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication, diminished social skills, and restrictive and repetitive behaviors and interests. ASD affects approximately 2.3% of the population and is highly heterogeneous, both… read more here.
Keywords: genomic strategies; autism; etiology; etiology autism ... See more keywords
PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.
Sign Up to like & getrecommendations! Published in 2019 at "Birth defects research"
DOI: 10.1002/bdr2.1630
Abstract: Nonsyndromic cleft lip and palate (NSCLP) is one of the most common craniofacial anomalies in humans, affecting more than 135,000 newborns worldwide. NSCLP has a multifactorial etiology with more than 50 genes postulated to play… read more here.
Keywords: hispanic families; tp63; etiology; nonsyndromic cleft ... See more keywords