Results 191 to 200 of about 48,964 (396)

The Stroke Riskometer™ in the Outpatient Clinic as an Educational Campaign for Acute Ischemic Stroke. [PDF]

Rev Neurol
Ortega-Moreno DA, Tienda-López F, Sánchez-Peralta ES, León-Pérez AL, Loaiza-Pérez D, Chávez-Ríos F, Góngora-Rivera F, GECEN-Investigators.   +7 more
europepmc   +1 more source

Frailty Index and Incident Mortality, Hospitalization, and Institutionalization in Alzheimer's Disease: Data From the ICTUS Study.

The journals of gerontology. Series A, Biological sciences and medical sciences, 2016
E. Kelaiditi, S. Andrieu, C. Cantet, B. Vellas, M. Cesari   +4 more
semanticscholar   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Stanniocalcin2, A Promising New Target for Identifying Patients with Stroke/Ictus. [PDF]

Int J Mol Sci
Bermejo N, López JJ, Berna-Erro A, Fernández E, Corbacho AJ, Vázquez MT, Granados MP, Redondo PC.   +7 more
europepmc   +1 more source

21513. OPTIMIZACIÓN DE LOS TIEMPOS DE ACTUACIÓN EN LA FASE INTRAHOSPITALARIA DEL CÓDIGO ICTUS A TRAVÉS DE LA METODOLOGÍA LEAN

Á. Ortega Sánchez, Camilo Martínez, R Navarro, R. Delgado Mederos, Á. Calleja Bonilla, Mònica Balaguer, Marta García, O. Romero Krauchi, S. Tur Campos   +8 more
openalex   +1 more source

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Therapeutic hypothermia with rapid thin liquid convection is safe and feasible in acute ischemic stroke patients: the SISCO pilot study. [PDF]

Front Neurol
Salerian JA, Schock RB, Schirmer CM, Sen S, Martin-Schild S, Goren O, Kupas DF, Freedman RJ, Aysenne A.   +8 more
europepmc   +1 more source

Trombectomía mecánica como tratamiento del ictus isquémico

, 2023
Jorge Eduardo Ortega, Diego S. Ortega
openalex   +2 more sources

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source