Results 11 to 20 of about 4,841 (226)

Hereditary sensory neuropathy type I [PDF]

Orphanet Journal of Rare Diseases, 2008
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.
Auer-Grumbach Michaela
doaj   +5 more sources

The neuroimmune axis and chronic pain disorders [PDF]

iScience
Summary: Both the nervous system and the immune system alert and protect the body against pathogen invasion and damage, but the extent of their interactions have only truly been elaborated in the past few decades.
Rebecca A. Feenstra, Wilfred F.A. den Dunnen, Jon D. Laman   +2 more
doaj   +2 more sources

Ultrasound-guided femoral nerve block combined with lateral femoral cutaneous nerve block in a patient with congenital insensitivity to pain and anhidrosis: a case report [PDF]

BMC Anesthesiology
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathies (HSAN I-V), is an exceptionally rare autosomal recessive disorder. The pathogenesis of CIPA remains not fully elucidated.
Jianzhong Li, Mingming Zhang, Dalong Dong, Hong Xu, Ankui Wang, Qi Liu, Lei Duan   +6 more
doaj   +2 more sources

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. [PDF]

Brain, 2009
Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons.
Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.   +14 more
europepmc   +6 more sources

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4. [PDF]

BMJ Case Rep
Gowda VK, Varghese A, Kinhal UV, Srinivasan VM, Nayyer A.   +4 more
europepmc   +3 more sources

A case of hereditary sensory and autonomic neuropathy type 4 presenting with chronic trophic ulcers [PDF]

, 2019
Hereditary Sensory and Autonomic Neuropathy (HSAN) is a rare group of diseases involving varying degrees of peripheral nervous system. It is classified into five main types.
Kedar M. Tilak, Pratibha B. Shamkuwar
openalex   +3 more sources

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease. [PDF]

J Peripher Nerv Syst
ABSTRACT 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, Hendrich C, von Hardenberg S, Vukojevic M, Körner S, Gschwendtberger T, Haghikia A, Peric S, Petri S.   +8 more
europepmc   +2 more sources

Hereditary autonomic neuropathy of the oral cavity and its management: A case report [PDF]

, 2022
Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic disorders that often manifest during childhood in the form of absence of pain sensation or self-mutilation.
Ardakani, Hossein Shojaaldini, aref, parissa, Ashrafi, Mahmoud Reza, Esmaeilzadeh, Niloofar, Seraj, Bahman   +4 more
core   +2 more sources

Role of skin punch biopsy in diagnosis of small fiber neuropathy-A review for the neuropathologist

Indian Journal of Pathology and Microbiology, 2022
Over the last three decades, skin punch biopsy has become the gold standard for diagnosis of small fiber neuropathies, including autonomic neuropathies commonly seen in diabetics, patients with HIV, and children with hereditary sensory autonomic ...
Deepti Narasimhaiah, Anita Mahadevan
doaj   +1 more source

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