Results 21 to 30 of about 297,361 (266)

Peripheral nervous system manifestations of Chediak-Higashi disease [PDF]

Muscle & Nerve, 2016
Chediak-Higashi disease (CHD) is a rare autosomal recessive disorder with hematologic, infectious, pigmentary, and neurologic manifestations. Classic CHD (C-CHD) presents in early childhood with severe infectious or hematologic complications unless treated with bone marrow transplantation. Atypical CHD (A-CHD) has less severe hematologic and infectious
Barbara Lear, Camilo Toro, Wendy J. Introne, Tanya J. Lehky, Catherine Groden   +4 more
openaire   +3 more sources

Living with Duchenne Muscular Dystrophy Beyond the Physical Implications: Cognitive Features, Psychopathology Aspects, and Psychosocial Resources—A Narrative Review

Brain Sciences
Background/Objectives: Duchenne muscular dystrophy (DMD) is often discussed in the literature with regard to physical impairments. This narrative review aims to show that living with DMD involves psychological, psychosocial, and cognitive aspects in ...
Federica Tizzoni, Giulia Canella, Antonella Delle Fave, Daniele Di Lernia, Maria Luisa Lorusso, Maria Nobile, Maria Grazia D’Angelo   +6 more
doaj   +1 more source

The role of the peripheral and central nervous systems in rotator cuff disease [PDF]

Journal of Shoulder and Elbow Surgery, 2015
Rotator cuff (RC) disease is an extremely common condition associated with shoulder pain, reduced functional capacities, and impaired quality of life. It primarily involves alterations in tendon health and mechanical properties that can ultimately lead to tendon failure.
Damien Bachasson, Anshuman Singh, Sameer B. Shah, John G. Lane, Samuel R. Ward   +4 more
openaire   +5 more sources

POEMS Syndrome: Case report

Türk Nöroloji Dergisi, 2010
Presented with characteristic polyneuropathy and multisystemic manifestations, POEMS syndrome is a rare plasma cell disorder. Vascular endothelial growth factor, secreted by plasmacytoma, is considered responsible for these symptoms.
Figen Gökçay, Ramiz Ahmedov, Aslı Köşkderelioğlu, Bengü Gerçeker, Serkan Ocakçı, Ahmet Gökçay   +5 more
doaj   +2 more sources

Transcriptional regulation of neuropeptide receptors underlies context‐dependent adaptation in Drosophila melanogaster

FEBS Open Bio, EarlyView.
Under environmental changes, the expression level of neuropeptide (NP) and neuropeptide receptor (NPR) genes changes to confer context‐dependent adaptation to the model organism Drosophila melanogaster. Through finding more regulatory elements in the NPR genes in comparison with their ligands (NPs), we found that NPR‐biased transcriptional regulation ...
SeungHeui Ryu, Yanan Wei, Zekun Wu, Tianmu Zhang, DoHoon Lee, Hadi Najafi, Woo Jae Kim   +6 more
wiley   +1 more source

Neurological complications in systemic lupus erythematosus and rheumatoid arthritis

Aktualności Neurologiczne, 2018
Rheumatic diseases are characterised by damage to connective tissue, which is most frequently autoimmune in nature. The inflammation resulting from auto-aggression involves various organs and the heterogenous clinical symptoms depend on the intensity of ...
Agnieszka Damiza-Detmer, Marta Milewska-Jędrzejczak, Małgorzata Pawełczyk, Andrzej Głąbiński   +3 more
doaj   +1 more source

Tryptophan metabolite atlas uncovers organ, age, and sex‐specific variations

FEBS Open Bio, EarlyView.
Tryptophan metabolites were analyzed across twelve organs, the central nervous system, and serum in male and female mice at three life stages. We found tissue‐, sex‐, and age‐specific differences, including increased indole‐3‐pyruvate and kynurenine in aging males.
Lizbeth Perez‐Castro, Afshan F. Nawas, Jessica A. Kilgore, Pedro A. S. Nogueira, M.Carmen Lafita‐Navarro, Paul H. Acosta, Roy Garcia, Noelle S. Williams, Maralice Conacci‐Sorrell   +8 more
wiley   +1 more source

Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data

Orphanet Journal of Rare Diseases
Background Myasthenia gravis (MG) is a rare autoimmune disorder. Several new treatment concepts have emerged in recent years, but access to these treatments varies due to differing national reimbursement regulations, leading to disparities across Europe.
Abderhmane Slioui, Giulia Tammam, Fiammetta Vanoli, Adela Della Marina, Stanislav Vohanka, Nils Erik Gilhus, Isabella Moroni, Maria Isabel Leite, Fredrik Piehl, Carlo Antozzi, Jonathan Pini, Frauke Stascheit, Shahram Attarian, Ernestina Santos, Jan Verschuuren, Lou Canonge, Jeremy Garcia, Caroline Perriard, Elena Cortés-Vicente, Renato Mantegazza, Andreas Meisel, Sabrina Sacconi   +21 more
doaj   +1 more source

Results of the survey of the physicians opinion on medical rehabilitation organization of children in Russian federation regions

Журнал инфектологии, 2018
The purpose of the study: the study of expert opinions of specialists from different regions of the Russian Federation on the  organization of rehabilitation of children with diseases of the central  and/or peripheral nervous system, including pediatric ...
I. G. Samojlova
doaj   +1 more source

Molecular determinants of signal transduction in tropomyosin receptor kinases

FEBS Open Bio, EarlyView.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source