Results 141 to 150 of about 2,954,248 (364)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Magnetorheological Characterization of Blood Analogues Seeded with Paramagnetic Particles [PDF]

arXiv
Magnetic particles can be useful in various medical applications, gaining access to the whole body if deployed in the blood stream. Localised drug delivery, haemorrhage control and cancer treatment are among the applications with potential to become revolutionary therapies. Despite this interest, a magnetorheological characterisation of particle-seeded
arxiv  

Numerical-experimental estimation of the deformability of human red blood cells from rheometrical data [PDF]

The deformability of human red blood cells (RBCs), which comprise almost 99% of the cells in whole blood, is largely related not only to pathophysiological blood flow but also to the levels of intracellular compounds. Therefore, statistical estimates of the deformability of individual RBCs are of paramount importance in the clinical diagnosis of blood ...
arxiv   +1 more source

The proinflammatory activity of recombinant serum amyloid A is not shared by the endogenous protein in the circulation.

, 2010
OBJECTIVE: Elevated serum levels of the acute-phase protein serum amyloid A (SAA) are a marker for active rheumatoid arthritis (RA), and SAA can also be found in the tissues of patients with active RA.
Björkman, Lena, Bylund, Johan, Dahlgren, Claes, Karlsson, Anna, Raynes, John G, Shah, Chandrabala   +5 more
core   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Flow Cytometric Immunophenotyping: Minimal Differences in Fresh and Cryopreserved Peripheral Blood Mononuclear Cells versus Whole Blood

Biomedicines
Background/Objectives: Flow cytometry is a convenient tool in immunophenotyping for monitoring the status of immunological conditions and diseases. The aim of this study was to investigate the effect of isolation and cryopreservation by flow cytometric ...
Andrea Tompa, Junko Johansson, Ulrika Islander, Maria Faresjö   +3 more
doaj   +1 more source

Cellular uptake of soy-derived phytoestrogens in vitro and in human whole blood [PDF]

, 2008
Epidemiological studies comparing typical Western and traditional Eastern lifestyles indicate that dietary intake of soyderived phytoestrogens, including genistein, daidzein, and equol, may have significant health protective effects on hormone-dependent ...
Bracke, Marc, De Keukeleire, Denis, Depypere, Herman, Heyerick, Arne, Maubach, Julie   +4 more
core  

Cortical Excitability Before and After Long‐Term Perampanel Treatment for Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Antiseizure medications (ASMs), which may influence cortical excitability, are the mainstay of epilepsy treatment. Transcranial magnetic stimulation (TMS) helps evaluate cortical excitability. We assessed changes in TMS responses using serial TMS measurements in people treated with an adjunctive noncompetitive AMPA‐receptor ...
Robert M. Helling, Johannes P. van Dijk, Prisca R. Bauer, Roland D. Thijs, Josemir W. Sander, Machiel Zwarts, Gerhard H. Visser   +6 more
wiley   +1 more source

MicroRNAs as potential biomarkers for diagnosis of post-traumatic stress disorder

Neural Regeneration Research
Post-traumatic stress disorder is a mental disorder caused by exposure to severe traumatic life events. Currently, there are no validated biomarkers or laboratory tests that can distinguish between trauma survivors with and without post-traumatic stress ...
Bridget Martinez, Philip V. Peplow
doaj   +1 more source