Results 31 to 40 of about 253,124 (183)

Familial dysautonomia. [PDF]

BMJ, 1968
Alfred A. Smith
openalex   +4 more sources

Experience With Dexmedetomidine Use in the Treatment of Dysautonomic Crisis in Familial Dysautonomia: An Off-Label Use. [PDF]

Cureus, 2022
Familial dysautonomia is a rare genetic neurodevelopmental disorder characterized by episodes of hyperautonomic state known as dysautonomic crises. The features of dysautonomic crises are hypertension, tachycardia, vomiting, sweating, flushing, and ...
Subedi A, Sharma R, Lalani I.
europepmc   +2 more sources

Familial Dysautonomia, Report of 3 Cases from Iran and a Discussion about Their General and Anaesthesia Care

Novelty in Biomedicine, 2015
Background: Familial Dysautonomia (FD) is a rare hereditary syndrome which is an autosomal recessive trait that typically affects Jewish children. Important signs and symptoms of the disorder include; diminished pain perception, absence of overflow tears,
Badiozaman Radpay, Mahtab Poor Zamany Nejat Kermany, Ali Asghar Halimi-Asl   +2 more
doaj   +1 more source

Jaw-in-a-Riley-Day: Mandibular Free Flap Reconstruction With Virtual Surgical Planning in a Patient With Familial Dysautonomia. [PDF]

Cureus, 2022
We present a unique case of mandibular reconstruction using virtual surgical planning (VSP) of a post-traumatic mandibular non-union defect for a patient with familial dysautonomia (FD), also known as Riley-Day Syndrome.
Itamura K, Kupferman S, Lee J, Mallen-St Clair J.   +3 more
europepmc   +2 more sources

Familial Dysautonomia [PDF]

, 2020
National Cancer Institute
  +5 more sources

Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia

Disease Models & Mechanisms, 2018
Familial dysautonomia (FD) is an autosomal recessive disorder marked by developmental and progressive neuropathies. It is caused by an intronic point-mutation in the IKBKAP/ELP1 gene, which encodes the inhibitor of κB kinase complex-associated protein ...
Yumi Ueki, Veronika Shchepetkina, Frances Lefcort   +2 more
doaj   +2 more sources

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia. [PDF]

Hum Mol Genet, 2022
Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease caused by a splicing mutation in the gene encoding Elongator complex protein 1 (ELP1, also known as IKBKAP).
Chekuri A, Logan EM, Krauson AJ, Salani M, Ackerman S, Kirchner EG, Bolduc JM, Wang X, Dietrich P, Dragatsis I, Vandenberghe LH, Slaugenhaupt SA, Morini E.   +12 more
europepmc   +2 more sources

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system. [PDF]

Sci Rep
Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 ( ELP1 ) gene.
Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, Chekuri A, Currall B, Yadav R, Erdin S, Talkowski ME, Gao D, Slaugenhaupt S.   +12 more
europepmc   +2 more sources

Case report: Perioperative management of a patient with familial dysautonomia

Journal of Clinical Intensive Care and Medicine, 2021
Familial dysautonomia is a rare autosomal recessive neurodegenerative disease affecting cells of the autonomic nervous system. Patients with this disease are insensitive to pain but their autonomic nervous system is still activated with noxious stimuli ...
Sarebanha Melodie, Valente Laura, Kalra Minnea, Joseph Layon A, Crimi Ettore   +4 more
openalex   +2 more sources

Increased frequency of rhabdomyolysis in familial dysautonomia. [PDF]

Muscle Nerve, 2015
Palma JA, Roda R, Norcliffe-Kaufmann L, Kaufmann H.   +3 more
europepmc   +3 more sources