Results 11 to 20 of about 5,744 (198)
Contemporary management of pain in cirrhosis: Toward precision therapy for pain
Hepatology, EarlyView., 2022 Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman +4 more
wiley +1 more source
Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells. [PDF]
PLoS ONE, 2010 Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from abnormal development and progressive degeneration of the sensory and autonomic nervous system.
Hadas Keren +5 more
doaj +1 more source
The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
Human Genome Variation, 2021 We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered ...
Yuki Kawashima-Sonoyama +5 more
doaj +1 more source
Familial dysautonomy (Riley-Day syndrome)
Arquivos de Neuro-Psiquiatria, 1994 Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta ...
Edward R. Tonholo Silva +2 more
doaj +1 more source
A rare case of postoperative pain in congenital analgesia: case report
Revista de Medicina da UFC, 2023 Objective: we describe a case of a patient with familial dysautonomia and postoperative pain. Methodology: clinical follow-up for 10 years in a tertiary pediatric hospital.
André Lavor Alves +4 more
doaj +1 more source
Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy [PDF]
, 2003 Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Lobato L, Beirão I, Silva M, Bravo F, Silvestre F, Guimarães S, Sousa A, Noël LH, Sequeiros J.
Beirao, I. +8 more
core +1 more source
Stem Cell Research, 2021 Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy affecting the development and function of the peripheral nervous system. FD causing gene is IKBKAP, encoding IkappaB kinase complex-associated protein also named elongator complex
Lior Dor +5 more
doaj +1 more source
Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area [PDF]
, 2018 Introduction: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and
Andrés, N. +2 more
core +2 more sources
Neurotrophic keratitis in a patient with disseminated lymphangiomatosis. [PDF]
, 2009 INTRODUCTION: Neurotrophic keratitis, a degenerative corneal disease caused by trigeminal nerve impairment, has many etiologies and remains very difficult to treat.
Charukamnoetkanok, Puwat +2 more
core +2 more sources
Familial Dysautonomia: Mechanisms and Models
Genetics and Molecular BiologyHereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions.
Paula Dietrich, Ioannis Dragatsis
doaj +3 more sources