Results 121 to 130 of about 2,481,224 (301)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

RENAL TUBERCULOSIS IN AN IMMUNOCOMPETENT PATIENT: AN UNEXPECTED DIAGNOSIS

Brazilian Journal of Infectious Diseases
Introduction: Renal tuberculosis is a form of extrapulmonary tuberculosis that occurs through hematogenous dissemination of Mycobacterium tuberculosis from a primary pulmonary focus, often latent or asymptomatic.
Vinícius de Araújo Costa Coelho, Luis Davi Diniz da Silveira, Helber José de Moura dos Anjos, Eriberto Leal de Barros Filhos, Daniel Alvares Vasconcelos   +4 more
doaj   +1 more source

Energetics of the brain and AI

, 2016
Does the energy requirements for the human brain give energy constraints that give reason to doubt the feasibility of artificial intelligence? This report will review some relevant estimates of brain bioenergetics and analyze some of the methods of ...
Sandberg, Anders
core  

Investigation of \u3cem\u3ede novo\u3c/em\u3e cholesterol synthetic capacity in the gonads of goldfish (\u3cem\u3eCarassius auratus\u3c/em\u3e) exposed to the phytosterol beta-sitosterol [PDF]

, 2006
Total and intra-mitochondrial gonadal cholesterol concentrations are decreased in fish exposed to the phytoestrogen beta-sitosterol (beta-sit). The present study examined the potential for beta-sit to disrupt de novo cholesterol synthesis in the gonads ...
Drolet, Melissa, MacLatchy, Deborah L., Sharpe, Rainie L.   +2 more
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

IDN1 and IDN2 are required for de novo DNA methylation in Arabidopsis thaliana. [PDF]

, 2009
DNA methylation is an epigenetic mark affecting genes and transposons. Screening for mutants that fail to establish DNA methylation yielded two we termed "involved in de novo" (idn) 1 and 2.
Ausin, Israel, Chory, Joanne, Jacobsen, Steven E, Mockler, Todd C   +3 more
core  

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Acesso dos homens aos serviços de saúde da atenção primária

Revista Brasileira de Medicina de Família e Comunidade
Introdução: A Política Nacional de Atenção Integral à Saúde do Homem implementada em 2009 visa diminuir barreiras de acesso da população masculina aos serviços de saúde.
Luciane Cristina Feltrin de Oliveira, Juliana Alves Leite Leal, Marcio Costa de Souza, Maria Fernanda Feltrin de Oliveira, André Luiz Nascimento Jesus   +4 more
doaj   +1 more source