Results 11 to 20 of about 9,576 (247)
Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease. [PDF]
J Peripher Nerv SystABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bjelica B +8 more
europepmc +2 more sources
Saudi Journal of Anaesthesia, 2011 Hereditary sensory autonomic neuropathy type IV is a rare disorder with an autosomal recessive transmission and characterized by self-mutilation due to a lack in pain and heat sensation.
Ergül Yakup +2 more
doaj +3 more sources
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
Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis
Indian Journal of Paediatric Dermatology, 2021 Hereditary sensory and autonomic neuropathy is a rare syndrome characterized by congenital insensitivity to pain, temperature changes, and an autonomic nerve formation disorder. We report an 8-year-old boy who presented with late-onset of self-mutilating
Aradhana Rout +3 more
doaj +1 more source
A rare case of hereditary sensory and autonomic neuropathy type II
Clinical Case Reports, 2023 We describe the follow‐up of a 29‐year‐old man diagnosed with hereditary sensory and autonomic neuropathy type II, including the different complications that presented since his childhood.
Elmira Mamytova +6 more
doaj +1 more source
A rare case of congenital corneal anesthesia
Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023 A 12-year-old male, who had a history of trauma in his right eye at 2 years of age, presented to the clinic with diminution of vision and whitish discoloration in his right eye.
Kunj Naik +4 more
doaj +1 more source
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 +5 more
core +2 more sources
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
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 +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 +9 more
core +4 more sources