Results 121 to 130 of about 9,990,798 (260)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

“Low‐Positive” MOG‐IgG Cases Among Adults With a First Event Suggestive of Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the prevalence and clinical characteristics of patients with “low‐positive” (LP) MOG‐IgG (titres 1:160–1:320) among adults with a first demyelinating event (FDE) suggestive of multiple sclerosis (MS). Methods From the Barcelona CIS inception cohort, we included adult patients with serum collected ≤ 6 months from the FDE.
Javier Villacieros‐Álvarez, Carmen Espejo, Georgina Arrambide, Mireia Castillo, Marta Rodriguez, Helena Ariño, Iker Elosua, Carmen Tur, Angela Vidal‐Jordana, Andreu Vilaseca, Joaquín Castilló, Ingrid Galán, Luciana Midaglia, Carlos Nos, Breogan Rodríguez‐Acevedo, Ana Zabalza, Luca Bollo, Agustín Pappolla, René Carvajal, Neus Mongay‐Ochoa, Jordi Rio, Jaume Sastre‐Garriga, Manuel Comabella, Gesualdina Busiello, Sofia Sceppacuercia, Àlex Rovira, Xavier Montalban, Mar Tintoré, Cristina Auger, Álvaro Cobo‐Calvo   +29 more
wiley   +1 more source

Aspectos relevantes sobre Toxoplasma gondii y su diversidad genética en animales silvestres

Visión Antataura
Toxoplasma gondii es un parásito intracelular obligado de alta prevalencia a nivel mundial, presenta una gran diversidad genética, característica que le permite poder infectar a una gran variedad de hospederos como aves, reptiles y mamíferos, incluidos ...
Héctor J. Cruz De G.
doaj   +1 more source

Manual básico para una atención en Salud mental basada en la evidencia.

, 2012
Publicado en la página web del Servicio Andaluz de Salud: http://www.juntadeandalucia.es/servicioandaluzdesalud (Servicio Andaluz de salud/principal/La organización/publicaciones)Este Manual se enmarca en la línea estratégica de Gestión del Conocimiento ...
Servicio Andaluz de Salud
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Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

National Center for Occupational Health and Environmental Health (CENSOPAS) [PDF]

, 2004
Atención en el servicio de psicología en el Centro Nacional de Salud Ocupacional y Protección del Ambiente para la Salud En el mes de octubre, se atendieron en el servicio de psicología del Centro Nacional de Salud Ocupacional del INS, 185 personas, de ...
Instituto Nacional de Salud
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A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Los Xenartros como puentes de conocimiento entre Colombia y Brasil

Mammalogy Notes
Los xenartros son un grupo prioritario para la conservación en América del Sur debido a su singularidad evolutiva y a las crecientes amenazas derivadas de la transformación del paisaje.
Nathalia Moreno-Niño, Juan Camilo Montoya-Díaz, Catalina Concha, Diego J. Lizcano   +3 more
doaj   +1 more source

Bartonelosis situation in the department of Cuzco [PDF]

, 1999
Fuente : Dirección de Salud CuscoConocida también como Enfermedad de Carrión o Verruga peruana, transmitida por los mosquitos del género Lutzomyias, se presenta con fiebre y anemia aguda con rápida postración y grave compromiso del estado general en fase
Instituto Nacional de Salud
core  

Cracking the Code: Which Ocular Symptoms Predict Dry Eye Signs? Insights From a Large International Sicca Registry

Arthritis Care &Research, EarlyView.
Objective The study aimed to identify symptom‐based predictors of dry eye disease (DED) signs in the Sjögren's International Collaborative Clinical Alliance (SICCA) cohort. Methods We performed a retrospective analysis examining 16 ocular symptoms (most graded 0–4) and artificial tear (AT) use (graded 0–3) as predictors of DED signs (abnormal ocular ...
Pragnya R. Donthineni, Chloe Shields, Rohit Muralidhar, Shreya Bhatt, Alan Baer, Robert Fox, Sara S. McCoy, Anat Galor   +7 more
wiley   +1 more source