Results 81 to 90 of about 187,598 (208)

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

Renal Transplantation in Familial Dysautonomia

, 2010
Background and objectives: Chronic kidney disease (CKD) is an increasingly recognized complication of familial dysautonomia (FD), a neurodevelopmental disorder with protean systemic manifestations that are the result of sensory and autonomic dysfunction.
Felicia B. Axelrod, Cohen, Scott D., Gerald B. Appel, Dominique M. Jan, Appel, Gerald B., Kaufmann, Horacio, Radhakrishnan, Jai, Jai Radhakrishnan, Horacio Kaufmann, Rekhtman, Yelena, Axelrod, Felicia B., Andrew S. Bomback, Scott D. Cohen, Drexler, Yelena, Jan, Dominique M., Yelena Rekhtman, Martin A. Nash, Matalon, Albert, Nash, Martin A., Bomback, Andrew S., Albert Matalon   +20 more
core   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Optic Nerve Dysfunction in Familial Dysautonomia

, 1988
Familial dysautonomia Is a rare hereditary disease of Ashkenasi Jews which Is known to affect peripheral autonomic and sensory nerve ...
Greg A. Diamond, MD; Robert A. D\u27Amico, MD; Felicia B. Axelrod, MD
core  

Association of Prodromal Parkinson's Disease‐Like Features in Long COVID With Dream‐Enactment Behaviours

Journal of Sleep Research, EarlyView.
ABSTRACT Emerging evidence links COVID‐19 to the predisposition of Parkinson's disease (PD). However, the relationship between long COVID and prodromal PD‐like features remains unclear, particularly in long COVID participants with dream‐enactment behaviours (DEBs) that may be suggestive of possible REM sleep behaviour disorder.
Siyi Gong, Yaping Liu, Bei Huang, Ngan Yin Chan, Eemil Partinen, Christian Benedict, Bjørn Bjorvatn, Ilona Merikanto, Luigi De Gennaro, Yves Dauvilliers, Brigitte Holzinger, Juliana Yordanova, Maria Korman, Cátia Reis, Anne‐Marie Landtblom, Sergio Mota‐Rolim, Michael R. Nadorff, Frances Chung, Yuichi Inoue, Harald Hrubos‐Strøm, Kentaro Matsui, Courtney J. Bolstad, Pei Xue, Colin A. Espie, Charles M. Morin, Thomas Penzel, Giuseppe Plazzi, Markku Partinen, Yun Kwok Wing   +28 more
wiley   +1 more source

Clinical Neuro-Ophthalmic Findings in Familial Dysautonomia

, 2011
Familial dysautonomia (FD) or Riley Day Syndrome is a recessive hereditary sensory and autonomic neuropathy caused by mutations in the IKBKAP gene.
Carlos Mendoza-Santiesteban; Thomas R. Hedges III; Felicia Axerold; Horacio Kaufmann; Floyd Warren
core  

Selective retinal ganglion cell loss in familial dysautonomia

, 2014
To define the retinal phenotype of subjects with familial dysautonomia (FD). A cross-sectional study was carried out in 90 subjects divided in three groups of 30 each (FD subjects, asymptomatic carriers and controls).
Hedges, Thomas R., Norcliffe-Kaufmann, Lucy, Axelrod, Felicia, Kaufmann, Horacio, Mendoza-Santiesteban, Carlos E.   +4 more
core   +1 more source

Reflex Syncope With Complete Heart Block Triggered by Swallowing in a Patient on Immune Checkpoint Inhibitor Therapy

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Immune checkpoint inhibitors (ICIs) are now standard of care for most advanced solid tumors. While effective, they are associated with immune‐related adverse events (irAEs), including rare autonomic complications. We present a patient with metastatic lung adenocarcinoma receiving nivolumab and ipilimumab who developed reflex syncope with ...
Ashley Bouzon, Michael Oropesa, Bardia Adibmoradi, Daniel Weitz   +3 more
wiley   +1 more source

Individuals with persisting post‐concussion symptoms with physiological subtype demonstrate altered cardiovascular and autonomic responses to face cooling

Experimental Physiology, EarlyView.
Abstract Individuals with persisting post‐concussion symptoms with physiological subtype (PPCS‐P) demonstrate exercise intolerance due to exacerbation of concussion‐like symptoms during incremental exercise. We tested the hypothesis that individuals with PPCS‐P (n = 12) would have a blunted cardiac autonomic response to face cooling compared to healthy
Phillip J. Wallace, Steve Lidstone, Josh G. Nowlan, Johnathan Ljubanovich, Brandon J. McKinlay, Stephen A. Klassen, Stephen S. Cheung   +6 more
wiley   +1 more source

Cannabinoid exposure during pregnancy: Cardiorespiratory effects and offspring outcomes

The Journal of Physiology, EarlyView.
Abstract figure legend Prenatal exposure to cannabinoids has been investigated across human and animal studies to understand its impact on physiological development. Evidence suggests that early‐life cannabinoid exposure influence multiple developmental processes, extending beyond neurodevelopmental outcomes to potentially affect placental function ...
Luis Gustavo A. Patrone, Luciane H. Gargaglioni   +1 more
wiley   +1 more source