Results 121 to 130 of about 932,591 (309)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness +11 more
wiley +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Epilepsy in General Practice [PDF]
Proceedings of the Royal Society of Medicine, 1977 openaire +5 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source
Examining and improving knowledge and attitudes about epilepsy has been a public health priority because of stigma around the disorder. This study had three goals: (1) to update estimates describing U.S.
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Stigma scale of epilepsy - Validation process [PDF]
, 2007 Purpose: To validate a Stigma Scale of Epilepsy (SSE). Methods: The SSE was completed by 40 adult with epilepsy attending an Outpatient Epilepsy Clinic at the University Hospital of UNICAMP, and by 40 people from the community. People were interviewed on
Sander, JW +4 more
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Sudden Unexpected Death in Epilepsy: A Case Report
, 2018 Sudden unexpected death in epilepsy (SUDEP) is a serious problem, and its importance has increased in recent years. It is responsible for the death of 17% of epilepsy patients. As the age of onset rises, the risk increases.
Aslan Öztürk, Dilek +7 more
core +1 more source
Irreversible Electroporation for Inferior Turbinate Reduction Ablation in Adults
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Inferior turbinate hypertrophy is a common cause of nasal airway obstruction. An optimal surgical approach should provide effective volume reduction while preserving mucosal integrity and minimizing postoperative morbidity. Objective To evaluate the safety and efficacy of irreversible electroporation (IRE) for non‐thermal ablation ...
Narin Nard Carmel Neiderman +9 more
wiley +1 more source
Neuropsychology and behavior in juvenile myoclonic epilepsy
, 2013 Following decades of neglect, there has been an increasing interest in the behavioral aspects of juvenile myoclonic epilepsy (JME) in the recent literature.
Feucht, Martha +4 more
core +1 more source
An Investigation of Sleep Macro‐ and Microarchitecture by APOE Genotype
Annals of Neurology, EarlyView.Objectives Apolipoprotein E ε4 (APOE ε4), a robust genetic risk factor for Alzheimer's disease (AD) is associated with functional connectivity deficits and amyloid pathology in brain regions involved in sleep regulation. Thus, alterations in sleep architecture may be one pathway through which ε4 contributes to Alzheimer's disease vulnerability. However,
Gawon Cho +6 more
wiley +1 more source