Results 171 to 180 of about 16,160 (225)
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Current Opinion in Genetics and Development, 2002
Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease. IKAP, the IKBKAP-encoded protein, is a member of the recently identified human Elongator complex.
Susan Slaugenhaupt, James Gusella
exaly +3 more sources
Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease. IKAP, the IKBKAP-encoded protein, is a member of the recently identified human Elongator complex.
Susan Slaugenhaupt, James Gusella
exaly +3 more sources
Pediatrics, 1955
The case of an infant with familial dysautonomia, complicated by an aspiration (lipoid) pneumonia, is presented. The additional manifestation of tongue-biting was attributed to underlying psychiatric disorder.
J R, HARRIS, H, GALL, S, WASSER
exaly +3 more sources
The case of an infant with familial dysautonomia, complicated by an aspiration (lipoid) pneumonia, is presented. The additional manifestation of tongue-biting was attributed to underlying psychiatric disorder.
J R, HARRIS, H, GALL, S, WASSER
exaly +3 more sources
MECP2 Dysautonomia Phenotypes in Boys
Pediatric Neurology, 2022 International audienceBackground: Recognizing and identifying dysautonomia would facilitate the diagnosis and management of MECP2 mutations in boys.
Gaëtan Lesca +2 more
exaly +2 more sources
Dysautonomia after severe traumatic brain injury [PDF]
European Journal of Neurology, 2010 BACKGROUND: Dysautonomia after traumatic brain injury (TBI) is characterized by episodes of increased heart rate, respiratory rate, temperature, blood pressure, muscle tone, decorticate or decerebrate posturing, and profuse sweating. This study addresses
Hendricks, H.T. +2 more
exaly +1 more source
Clinical Autonomic Research, 2023
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. The FD founder mutation in the ELP1 gene arose within the Ashkenazi Jews in the sixteenth century and is present in 1:30 Jews of European ancestry.
Alejandra González-Duarte +3 more
openaire +2 more sources
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. The FD founder mutation in the ELP1 gene arose within the Ashkenazi Jews in the sixteenth century and is present in 1:30 Jews of European ancestry.
Alejandra González-Duarte +3 more
openaire +2 more sources
Dysautonomia and heart rate variability following severe traumatic brain injury
Brain Injury, 2006 Primary objective: To investigate disconnection theories postulated as the cause of dysautonomia following severe traumatic brain injury (TBI) through analysis of heart rate variability (HRV).
Ian Baguley, Ian D Cameron
exaly +1 more source
Current Paediatrics, 1997
Abstract Familial dysautonomia (FD, Riley-Day syndrome, hereditary sensory and autonomic neuropathy type III) can be considered a genetic model for understanding how perturbations in the autonomic nervous system and the sensory system can compromise cognition and alter behavior.
openaire +2 more sources
Abstract Familial dysautonomia (FD, Riley-Day syndrome, hereditary sensory and autonomic neuropathy type III) can be considered a genetic model for understanding how perturbations in the autonomic nervous system and the sensory system can compromise cognition and alter behavior.
openaire +2 more sources
Pediatrics, 1979
The study of 53 patients with dysautonomia by Welton et al (Pediatrics 63:708, 1979) is the most extensive survey of mental ability in this condition yet published. The conclusion is drawn "that the same proportion of the dysautonomic population scored within the average range of intelligence as if found in the general population." The ...
openaire +2 more sources
The study of 53 patients with dysautonomia by Welton et al (Pediatrics 63:708, 1979) is the most extensive survey of mental ability in this condition yet published. The conclusion is drawn "that the same proportion of the dysautonomic population scored within the average range of intelligence as if found in the general population." The ...
openaire +2 more sources
Journal of the American Veterinary Medical Association, 1988
Autonomic dysfunction was diagnosed in a 2.5-year-old spayed domestic shorthair cat. The cat had an 8-day history of progressive anorexia, signs of depression, constipation, weight loss, and intermittent regurgitation. Physical examination findings were signs of depression, dehydration, cachexia, bradycardia, bilateral nonresponsive mydriasis, prolapse
D D, Canton, N J, Sharp, G D, Aguirre
openaire +2 more sources
Autonomic dysfunction was diagnosed in a 2.5-year-old spayed domestic shorthair cat. The cat had an 8-day history of progressive anorexia, signs of depression, constipation, weight loss, and intermittent regurgitation. Physical examination findings were signs of depression, dehydration, cachexia, bradycardia, bilateral nonresponsive mydriasis, prolapse
D D, Canton, N J, Sharp, G D, Aguirre
openaire +2 more sources
Sympathetic Cardioneuropathy in Dysautonomias
New England Journal of Medicine, 1997The classification of dysautonomias has been confusing, and the pathophysiology obscure. We examined sympathetic innervation of the heart in patients with acquired, idiopathic dysautonomias using thoracic positron-emission tomography and assessments of the entry rate of the sympathetic neurotransmitter norepinephrine into the cardiac venous drainage ...
D S, Goldstein +4 more
openaire +3 more sources