Results 31 to 40 of about 225,755 (317)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Ventricular Tachycardia in Pregnant Patients
, 2010 Ventricular tachycardia although not common, can occasionally complicate pregnancy. Its presence may indicate an underlying cardiac structural abnormality, or undiagnosed congenital arrhythmic disease.
Ameen Patel +2 more
core +1 more source
Indian Journal of PsychiatryBackground: Diamine oxidase (DAO) deficiency, a key marker of histamine intolerance (HIT), often mimics anxiety or panic disorders, leading to a misdiagnoses and delayed treatment.
Ilkay Keskinel
doaj +1 more source
Prenatal diagnosis and postnatal follow-up of congenitally corrected transposition of the great arteries and recurrent supraventricular tachycardia [PDF]
, 2013 The prenatal sonographic diagnosis of congenitally corrected transposition of the great arteries (ccTGA), a rare form of congenital heart disease is very difficult.
Celik, I. +3 more
core
Dual chamber pacemaker in the treatment of paroxysmal atrial fibrillation [PDF]
Vojnosanitetski Pregled, 2005 Background. Atrial fibrillation is the most frequent cardiac dysrhythmia. The aim of this study was to show the role and the efficacy of a dual chamber pacemaker with the algorithm of atrial dynamic overdrive, in the suppression of paroxysmal atrial ...
Rađen Goran +3 more
doaj +1 more source
Postural tachycardia syndrome among adolescents.
, 2022 Postural tachycardia syndrome (PoTS) is a polymorphic clinical syndrome that is underdiagnosed, especially in adolescents. It is a form of dysautonomia, but its exact physiopathology remains elusive.
Caflisch, M +3 more
core +1 more source
Catheter Ablation of Atrial Tachycardia in a Giant Right Atrium. [PDF]
, 2020 A 25-year-old male patient with a giant right atrium presented with atrial tachycardia. Electroanatomic mapping revealed micro-re-entry from a low-voltage zone in the region of the right atrial appendage.
Kueffer, Thomas +3 more
core +1 more source