Results 71 to 80 of about 3,106 (209)

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Uncoupling neurotrophic function from nociception of nerve growth factor: what can be learned from a rare human disease?

Neural Regeneration Research, 2019
Nerve growth factor (NGF) is a powerful trophic factor that provides essential support for the survival and differentiation of sympathetic and sensory neurons during development.
Kijung Sung, Wanlin Yang, Chengbiao Wu
doaj   +1 more source

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases

Muscle &Nerve, EarlyView.
This scoping review summarizes the spectrum of upper extremity assistive devices for adults with progressive neuromuscular diseases, ranging from low‐tech supports to advanced robotics, exoskeletons, and brain‐computer interface systems. While these technologies show promise for improving enabling function, current evidence is largely limited to ...
Katherine M. Burke, Stephanie Johnson, Kayla Chomko, Angela Escalante, Kendall C. Hall, Melis Lydston, Courtney Uek, Gabriella Casagrande, Hyun Jung Kim, James Arnold, David Pont‐Esteban, Harrison Young, Conor Walsh, Sabrina Paganoni   +13 more
wiley   +1 more source

Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre. [PDF]

Paediatr Child Health, 2023
Reddi R, Horvath GA.
europepmc   +1 more source

Hereditary Sensory and Autonomic Neuropathy: Case Report and Discussion [PDF]

, 2020
Hereditary sensory and autonomic neuropathies (HSAN) are a diverse group of diseases involving the peripheral nervous system. Patients present with profound distal sensory loss and variable degrees of autonomic disturbances.
E J Wright, Hongtao Liu, D C Wan, R M Garza   +3 more
core  

A comprehensive Sustainable Development Goal‐guided framework for advancing survivorship, rehabilitation, and quality of life in breast cancer patients

Precision Medical Sciences, EarlyView.
This article presents an Sustainable Development Goal‐aligned framework integrating survivorship care, rehabilitation, and quality‐of‐life strategies for breast cancer patients, emphasizing equity, gender responsiveness, and health system strengthening. It highlights multidisciplinary, patient‐centered interventions and global partnerships as essential
Emmanuel Ifeanyi Obeagu
wiley   +1 more source

High-density genotyping reveals signatures of selection related to acclimation and economically important traits in 15 local sheep breeds from Russia

BMC Genomics, 2019
Background Domestication and centuries of selective breeding have changed genomes of sheep breeds to respond to environmental challenges and human needs.
Andrey A. Yurchenko, Tatiana E. Deniskova, Nikolay S. Yudin, Arsen V. Dotsev, Timur N. Khamiruev, Marina I. Selionova, Sergey V. Egorov, Henry Reyer, Klaus Wimmers, Gottfried Brem, Natalia A. Zinovieva, Denis M. Larkin   +11 more
doaj   +1 more source

Neurotrophic Signaling, Sleep Physiology, and Retinal Neuroprotection: Integrative Mechanisms and Therapeutic Implications for Glaucoma

Sensory Neuroscience, EarlyView.
Glaucoma is increasingly understood as a neurodegenerative disorder shaped by sleep and circadian physiology, not intraocular pressure alone. Sleep loss and obstructive sleep apnea suppress BDNF–TrkB neurotrophic signaling, impair sleep‐dependent glymphatic clearance, and trigger microglial neuroinflammation and vascular insult at the optic nerve head,
Karyme M. Alemán‐Villa, Emiliano Terán, Javier A. Magaña‐Gómez, Loranda Calderón‐Zamora, Beatriz K. De la Herrán‐Arita, Alberto K. De la Herrán‐Arita   +5 more
wiley   +1 more source

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

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   +1 more source

Anestesia em paciente com insensibilidade congênita a dor e anidrose Anestesia en paciente con insensibilidad congénita al dolor y anhidrosis Anesthesia in a patient with congenital insensitivity to pain and anhidrosis

Revista Brasileira de Anestesiologia, 2009
JUSTIFICATIVA E OBJETIVOS: A insensibilidade congênita a dor e anidrose (ICDA) ou neuropatia hereditária sensorial e autonômica tipo IV (NHSA tipo IV) é neuropatia autossômica recessiva rara do grupo das neuropatias hereditárias sensoriais e autonômicas (
Carlos Rogério Degrandi Oliveira, Valter César Paris, Renato Augusto Pereira, Felipe Souza Thyrso de Lara   +3 more
doaj   +1 more source