Results 191 to 200 of about 40,116 (312)

[Ictus laryngis].

Lijecnicki vjesnik, 1998
C, ILIC, P, STEFANOVIC
openaire   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Nimodipine after aneurysmal subarachnoid hemorrhage: shortened treatment in an unselected patient cohort. [PDF]

Brain Spine
Baldvinsdóttir B, Wästberg P, Hansen BM, Uvelius E, Kronvall E.   +4 more
europepmc   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Predictive model and scoring system for delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage: A ten-year prospective analysis of observational data. [PDF]

Brain Spine
Djilvesi D, Nikolic D, Nikolic MB, Jelaca B, Golubovic J, Pajicic F, Lasica N.   +6 more
europepmc   +1 more source

Aberratio Ictus

, 2017
O Tema em análise – aberratio ictus –ou o chamado erro de execução –tem sido objecto de larga discussão no que respeita ao tratamento a dar a estes casos –em que o agente na fase de execução do crime, acaba por atingir objecto diverso do que na realidade pretendia –não representando assim o que projectou, por situaçõesque lhe são externas.
openaire   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

SAHRANG: Subarachnoid Hemorrhage Recovery and Galantamine: A Pilot Multicenter Randomized Placebo-Controlled Trial. [PDF]

Neurocrit Care
Yang BSK, Savarraj JPJ, Moreno E, Immanuel KE, Hergenroeder G, Torres G, Kim JH, Samuel S, Pedroza C, Grotta JC, Barreto A, Choi HA.   +11 more
europepmc   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

[Cost-Effectiveness Analysis of an ICTUS Unit: A Case Study of the University Hospital Complex of Santiago de Compostela]. [PDF]

Rev Neurol
Reyes-Santias F, Castro ADCP, Santamaria-Cadavid M, Castro E, Rodriguez-Yañez M, Prieto-Gonzalez JM, Aibar-Guzman B.   +6 more
europepmc   +1 more source