Results 71 to 80 of about 744 (162)

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

Diagnostic approach to peripheral neuropathy

Annals of Indian Academy of Neurology, 2008
Peripheral neuropathy refers to disorders of the peripheral nervous system. They have numerous causes and diverse presentations; hence, a systematic and logical approach is needed for cost-effective diagnosis, especially of treatable neuropathies.
Misra Usha, Kalita Jayantee, Nair Pradeep   +2 more
doaj  

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

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

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

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

Hereditary sensory and autonomic neuropathy: review and a case report with dental implications

, 2000
Hereditary sensory and autonomic neuropathy (HSAN) is a rare syndrome which is seen in early childhood. Five different types are described. Absence of pain and self-mutilation are characteristic findings of this syndrome.
Ilguy, D, Sirin, S, Ozcan, I, Erdem, TL
core   +1 more source

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I [PDF]

, 2010
Hereditary sensory and autonomic neuropathy type I (HSAN-I) is an axonal peripheral neuropathy associated with progressive distal sensory loss and severe ulcerations.
Almeida-Souza, Leonardo, Seemann, P, Michaela Auer-Grumbach, Janssens, K, Rotthier, Annelies, Katrien Janssens, Petr Vondráček, Vondráček, Petr, Van Hoof, K, Hornemann, Thorsten, Timmerman, Vincent, Vincent Timmerman, Van Dijck, P, Auer-Grumbach, Michaela, De Vriendt, Els, Auer-Grumbach, M, Jacobs, A, Janssens, Katrien, Löscher, Wolfgang, Beate Schlotter-Weigel, Annelies Rotthier, Jordanova, Albena, Kim Van Hoof, Penno, Anke, Anke Penno, Penno, A, Wolfgang Löscher, Jordanova, A, Schlotter-Weigel, Beate, Schlotter-Weigel, B, Almeida-Souza, L, Hornemann, T, Albena Jordanova, Timmerman, V, Vondráček, P, Seeman, Pavel, Löscher, W, De Vriendt, E, De Jonghe, Peter, Pavel Seeman, Jonathan Baets, Leonardo Almeida-Souza, Jacobs, An, Van Hoof, Kim, Peter De Jonghe, Thorsten Hornemann, Baets, J, Els De Vriendt, Van Dijck, Patrick, An Jacobs, Baets, Jonathan, Patrick Van Dijck, de Almeida Souza, Leonardo, De Jonghe, P, Rotthier, A   +54 more
core   +1 more source

Nanomedicine applications in lymphoma: Advancing precision diagnostics, targeted therapeutics, and prospective developments

VIEW, EarlyView.
Lymphoma is a group of blood cancers that can appear in lymph nodes, blood, bone marrow, spleen, liver, or the central nervous system, which makes drug delivery and disease monitoring difficult. This review summarizes how nanomedicine technologies may improve targeted treatment and imaging, while carefully separating approved or guideline‐supported ...
Mohd Ahmar Rauf, Yara Mashal, Afeefa Rao, Nasar Ata, Arun K. Iyer, Farhan Shah   +5 more
wiley   +1 more source

Macular telangiectasia type 2 genetic risk variants associated with clinical characteristics in the Slovenian cohort

Acta Ophthalmologica, EarlyView.
Abstract Purpose Early diagnosis of macular telangiectasia type 2 (MacTel) remains challenging, and the contribution of genetic variation to its clinical heterogeneity is unclear. This study investigated associations between MacTel risk variants and clinical characteristics in a Slovenian cohort.
Ajda Kunčič, Nataša Debeljak, Petra Hudler, Janez Smerkolj, Mojca Urbančič   +4 more
wiley   +1 more source