Results 31 to 40 of about 10,587 (266)

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, Neehar Parikh, Dan J. Clauw, David A. Williams, Elliot B. Tapper   +4 more
wiley   +1 more source

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. [PDF]

Neurology, 2019
Objective To evaluate the safety and efficacy of l-serine in humans with hereditary sensory autonomic neuropathy type I (HSAN1). Methods In this randomized, placebo-controlled, parallel-group trial with open-label extension, patients aged 18–70 years ...
Fridman V, Suriyanarayanan S, Novak P, David W, Macklin EA, McKenna-Yasek D, Walsh K, Aziz-Bose R, Oaklander AL, Brown R, Hornemann T, Eichler F.   +11 more
europepmc   +2 more sources

Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study [PDF]

, 2020
Background Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities.
Coelho, Teresa, Conceição, Isabel, Costa, João, de Carvalho, Mamede, Ferreira, Lara, Inês, Mónica   +5 more
core   +2 more sources

Anesthetic management of a child with congenital insensitivity to pain with anhidrosis: A case report

Frontiers in Surgery, 2022
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disease classified as hereditary sensory and autonomic neuropathy type VI. Patients with CIPA are characterized by insensitivity to pain, episodes of unexplained fever,
Ying Zhang, Zhiyu Geng
doaj   +1 more source

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature

Journal of Medical Case Reports, 2017
Background Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which
Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela   +5 more
doaj   +1 more source

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]

, 2016
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 more
core   +4 more sources

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. [PDF]

, 2013
To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this ...
Blake, J, Ernst, D, Hornemann, T, Houlden, H, Laurà, M, Liu, YT, Murphy, SM, Polke, J, Reilly, MM, Wei, Y, Winer, J   +10 more
core   +1 more source

Single-centre experience on transthyretin familial amyloid polyneuropathy : case series and literature review [PDF]

, 2018
Familial amyloid polyneuropathy (FAP) is a most often length-dependent axonal neuropathy, often part of a multisystem disorder also affecting other organs, such as cardiac, gastrointestinal, genitourinary, renal, meningeal and eye tissue.
De Bleecker, Jan, De Pauw, Michel, Martens, Broes   +2 more
core   +2 more sources

Structural, mechanistic and regulatory studies of serine palmitoyltransferase [PDF]

, 2012
SLs (sphingolipids) are composed of fatty acids and a polar head group derived from l-serine. SLs are essential components of all eukaryotic and many prokaryotic membranes but S1P (sphingosine 1-phosphate) is also a potent signalling molecule.
Alexeev, An, Astner, Bejaoui, Bourquin, Breslow, Buede, Dietrich, Dominic J. Campopiano, Eliot, Fahy, Gable, Gable, Gable, Garofalo, Geiger, Han, Han, Han, Hanada, Hanada, Hanada, Hjelmqvist, Hojjati, Hornemann, Hornemann, Huang, Ikushiro, Ikushiro, Ikushiro, Jahan, James H. Naismith, Jonathan Lowther, Kawahara, Kelly, Lowther, Lowther, Merrill, Mun, Nagiec, Nagiec, Penno, Raman, Raman, Roelants, Rotthier, Schmidt, Shiraiwa, Snell, Teresa M. Dunn, Ternes, Weiss, Williams, Yard, Yim, Zhao, Zitomer   +56 more
core   +1 more source

Cutaneous amyloid is a biomarker in early ATTRv neuropathy and progresses across disease stages

Annals of Clinical and Translational Neurology, 2022
Objective To determine the sensitivity and specificity of cutaneous amyloid deposition in relation to patient‐reported measures in the earliest disease stage of hereditary ATTR amyloidosis (ATTRv).
Roy Freeman, Alejandra Gonzalez‐Duarte, Fabio Barroso, Marta Campagnolo, Sharika Rajan, Jennifer Garcia, Jee Young Kim, Ningshan Wang, Lucas Orellana, Christopher Gibbons   +9 more
doaj   +1 more source