Results 71 to 80 of about 5,744 (198)

Retrograde tubing as a rescue treatment for megaoesophagus: a case report

BMJ Open Gastroenterology
Familial dysautonomia (FD) is a genetic disease of the autonomous and sensory nervous systems. Severe gastro-oesophageal reflux is common and one of the major complications. Some patients with FD develop megaoesophagus.
Mordechai Slae, Jonathan Abraham Demma, Chedva S Weiss, Benjamin Koplewitz, Channa Maayan   +4 more
doaj   +1 more source

Cardiac sympathetic denervation in 6-OHDA-treated nonhuman primates. [PDF]

PLoS ONE, 2014
Cardiac sympathetic neurodegeneration and dysautonomia affect patients with sporadic and familial Parkinson's disease (PD) and are currently proposed as prodromal signs of PD. We have recently developed a nonhuman primate model of cardiac dysautonomia by
Valerie Joers, Kristine Dilley, Shahrose Rahman, Corinne Jones, Jeanette Shultz, Heather Simmons, Marina E Emborg   +6 more
doaj   +1 more source

Proposed criteria of levels of evidence for co‐occurring epilepsy in people with functional/dissociative seizures

Epilepsia, EarlyView.
Abstract Objective This work was undertaken to describe the level of evidence for co‐occurring epileptic seizures in patients with known functional/dissociative seizures (FDS) using stratification criteria analogous to the International League Against Epilepsy criteria for functional seizures.
Shruti N. Iyer, Zachary Duarte, Gabriela Figueiredo Pucci, Tara Pirnia, Katherine N. McFarlane, Danielle R. Carns, Alex Israel, Kyr Goyette, Brittany Concilus, Nicholas J. Beimer, Page B. Pennell, M. Angela O'Neal, Laura A. Strom, Laura A. Kirkpatrick, Joseph Ta, Carolina Cuello‐Oderiz, Wesley T. Kerr   +16 more
wiley   +1 more source

Current treatments in familial dysautonomia [PDF]

Expert Opinion on Pharmacotherapy, 2014
Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (type III). The disease is caused by a point mutation in the IKBKAP gene that affects the splicing of the elongator-1 protein (ELP-1) (also known as IKAP). Patients have dramatic blood pressure instability due to baroreflex failure, chronic kidney disease, and impaired ...
Jose-Alberto, Palma, Lucy, Norcliffe-Kaufmann, Cristina, Fuente-Mora, Leila, Percival, Carlos, Mendoza-Santiesteban, Horacio, Kaufmann   +5 more
openaire   +2 more sources

The Burden of Disease and the Changing Task of Medicine [PDF]

, 2014
History of ...
Greene, Jeremy Alan, Jones, David Shumway, Podolsky, Scott Harris   +2 more
core   +1 more source

Equine botulism

Equine Veterinary Journal, EarlyView.
Abstract Botulism is a severe and often fatal disease in equine patients worldwide. Clostridium botulinum is a ubiquitous soil organism which produces a potent neurotoxin resulting in neuromuscular blockade and flaccid paralysis in affected animals. Definitive diagnosis is often impractical or impossible, leading to diagnosis and treatment based on ...
Kali Slavik, Robert Whitlock, Amy Johnson   +2 more
wiley   +1 more source

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  

Metabolic Deficits in the Retina of a Familial Dysautonomia Mouse Model

Metabolites
Neurodegenerative retinal diseases such as glaucoma, diabetic retinopathy, Leber’s hereditary optic neuropathy (LHON), and dominant optic atrophy (DOA) are marked by progressive death of retinal ganglion cells (RGC).
Stephanann M. Costello, Anastasia Schultz, Donald Smith, Danielle Horan, Martha Chaverra, Brian Tripet, Lynn George, Brian Bothner, Frances Lefcort, Valérie Copié   +9 more
doaj   +1 more source

Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients.

PLoS ONE, 2019
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from a point mutation at the 5' splice site of intron 20 in the IKBKAP gene.
Sivan Yannai, Jonathan Zonszain, Maya Donyo, Gil Ast   +3 more
doaj   +1 more source

Wnt Signaling in Neural Crest Ontogenesis and Oncogenesis. [PDF]

, 2019
Neural crest (NC) cells are a temporary population of multipotent stem cells that generate a diverse array of cell types, including craniofacial bone and cartilage, smooth muscle cells, melanocytes, and peripheral neurons and glia during embryonic ...
Hao, Hongyan, Ji, Yu, McMahon, Moira, Reynolds, Kurt, Zhou, Chengji J   +4 more
core   +2 more sources