Results 71 to 80 of about 187,613 (226)

Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia

, 2017
Clinical data suggest that optic neuropathy and retinal ganglion cell loss are the main cause of visual decline in patients with familial dysautonomia, but this has not previously been confirmed by pathological analyses.
Hedges, 3rd, Thomas R, Nada Farhat, Mendoza-Santiesteban, Carlos E, Farhat, Nada, Thomas R. Hedges, Lucy Norcliffe-Kaufmann, Horacio Kaufmann, Jose-Alberto Palma, Nora V. Laver, Carlos E. Mendoza-Santiesteban, Palma, Jose-Alberto, Norcliffe-Kaufmann, Lucy, Kaufmann, Horacio, Laver, Nora V   +13 more
core   +1 more source

Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]

, 1999
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Spranger, S., Benninger, C., Schwab, S., Spranger, Matthias, Dichgans, Martin   +4 more
core   +1 more source

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

The Role of Repetitive Transcranial Magnetic Stimulation in Modulating Autonomic Dysfunction in Irritable Bowel Syndrome rTMS for IBS Autonomic Dysfunction

Sensory Neuroscience, EarlyView.
Irritable bowel syndrome (IBS) is associated with dysregulation of the autonomic nervous system and altered brain–gut communication. rTMS may alleviate IBS symptoms by modulating central autonomic and pain‐processing networks, potentially restoring sympathovagal balance and reducing visceral hypersensitivity.
Aliasghar Karimi, Habib Zakeri, Mohammad Radmehr, Saba Moalemi, Pegah Pedramfard   +4 more
wiley   +1 more source

Immune checkpoint inhibitor‐induced arrhythmias: Mechanistic insights from clinical and preclinical studies

British Journal of Pharmacology, EarlyView.
Immune checkpoint inhibitors (ICIs) have transformed cancer therapy, but their efficacy continues to be limited by immune‐related adverse events. Among these, ICI‐induced cardiac arrhythmias are increasingly recognised as a major adverse reaction, encompassing a broad spectrum of clinical phenotypes, including conduction blocks, atrial fibrillation and
Anand R. Ramalingam, Zoltán Márton Köhler, Péter Ferdinandy, Zoltán V. Varga   +3 more
wiley   +1 more source

Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Sleep‐disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been ...
Jessica Taytard, Segolène Falquero, Sophie Denamur, Pierre‐Yves Boelle, Karl Leroux, Harriet Corvol, Aimé Ravel, Clotilde Mircher, Jeanne Toulas, Emmanuelle Prioux, Marie‐Anne Caillaud, Guillaume Aubertin, Hervé Walti   +12 more
wiley   +1 more source

Current treatments in familial dysautonomia

, 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).
Mendoza-Santiesteban, Carlos, Palma, Jose-Alberto, Norcliffe-Kaufmann, Lucy, Fuente-Mora, Cristina, Percival, Leila, Kaufmann, Horacio   +5 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

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