Results 101 to 110 of about 10,587 (266)

A case of hereditary sensory autonomic neuropathy type IV

Annals of Indian Academy of Neurology, 2012
Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation.
G P Prashanth, Mahesh Kamate
doaj   +1 more source

Pathological classification of equine recurrent laryngeal neuropathy [PDF]

, 2018
Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle ...
Draper, A C E, Piercy, R J
core   +2 more sources

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Peripheral Blood Cell Gene Expression Diagnostic for Identifying Symptomatic Transthyretin Amyloidosis Patients: Male and Female Specific Signatures [PDF]

, 2016
BACKGROUND: Early diagnosis of familial transthyretin (TTR) amyloid diseases remains challenging because of variable disease penetrance. Currently, patients must have an amyloid positive tissue biopsy to be eligible for disease-modifying therapies ...
Buxbaum, J., Coelho, T., Gelbart, T., Kelly, J., Kurian, S., Novais, M., Salomon, D., Whisenant, T.   +7 more
core   +1 more source

Older Adults' Self‐Care and Family Caregiver Contribution in Multiple Chronic Conditions: A Dyadic Qualitative Study

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aims To explore how older adult‐family caregiver dyads jointly manage multiple chronic conditions. Specifically, it investigates how dyads (i) prioritise chronic diseases, (ii) make and negotiate decisions related to self‐care and (iii) define and distribute self‐care tasks and caregiver contributions.
Giulia Andrea Baldan, Irene Dello Iacono, Valentina Giurissevich, Davide Ausili, Ercole Vellone, Maddalena De Maria, Maria Matarese   +6 more
wiley   +1 more source

Hereditary sensory autonomic neuropathy type VI in the age of genetic testing

Annals of the Child Neurology Society
Hereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin (DST) gene. We report a novel homozygous alternate transcript mutation in the DST gene causing a severe neonatal ...
Lekshmi Peringassery Sateesh, Pavani Chitamanni, Danielle Akinsanmi, Suman Ghosh, Steven Pavlakis, Alexandra Reznikov   +5 more
semanticscholar   +1 more source

A rare case of congenital insensitivity to pain with anhydrosiss

Indian Journal of Pain, 2015
Congenital insensitivity to pain syndrome with anhydrosis (CIPA) is a rare inherited disorder. It is characterized by loss of pain and temperature sensation, lack of sweating and mild mental retardation.
Govardhani Yanamadala, Varaprasad Ussa, Pavani Medisetty, Bhavya Gatte   +3 more
doaj   +1 more source

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.
Shamkuwar, Pratibha B., Tilak, Kedar M.
core   +2 more sources

Immune cell infiltration correlates with intestinal permeability, inflammation, and gastrointestinal symptoms in type 1 diabetes

Journal of Diabetes Investigation, EarlyView.
In individuals with type 1 diabetes, immune cell infiltration in the colon mucosa tended to correlate with fecal and systemic markers of intestinal permeability and inflammation, as well as gastrointestinal symptoms. These findings suggest that low‐grade gut immune activation might link the intestinal barrier dysfunction with systemic endotoxin ...
Polina Zalizko, Reinis Isaks, Leonora Pahirko, Aleksejs Fedulovs, Eduards Krustins, Jurijs Nazarovs, Sergejs Dubencovs, Hanne Salmenkari, Markku Lehto, Kaspars Jēkabsons, Una Riekstiņa, Per‐Henrik Groop, Niina Sandholm, Jeļizaveta Sokolovska   +13 more
wiley   +1 more source

Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient

Basic and Clinical Neuroscience, 2013
Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose their feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene ...
Nasrollah Saleh-gohari, Marzye Mohammadi-Anaie   +1 more
doaj   +2 more sources