Results 51 to 60 of about 9,704 (246)

Novel mutations in congenital factor XII deficiency

Frontiers in Bioscience, 2016
Several mutations in factor XII have been reported in patients with factor XII deficiency. Here, we described three mutations in the F12 gene (c. 6635G more than A (p. G259E), c. 6658G more than C (p. R267G) and c. 8489G more than A (p. E521K)) of five patients with congenital FXII deficiency. Among these, two were heterozygous mutations.
Peipei, Jin, Wenli, Jiang, Hui, Yan, Lanbo, Liu, Song, Gu, Xuefeng, Wang, Lisong, Shen, Xi, Mo   +7 more
openaire   +2 more sources

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source

Pronóstico materno y perinatal en el embarazo con deficiencia del factor XII

Revista Chilena de Obstetricia y Ginecología, 2012
Antecedentes: El déficit de factor XII es una enfermedad poco frecuente, relacionada con trombosis y abortos a repetición. Objetivo: Evaluar el resultado materno y perinatal en 25 embarazadas con déficit del factor XII.
Amelia Vizcaíno M, Milagros Cruz M, Encarnación Arévalo R, Ana María Fernández A   +3 more
doaj  

Unusual Presentation of Factor XII Deficiency with Bleeding: A Rare Case Report

Liaquat Medical Research Journal, 2020
Factor XII (FXII) is a coagulation protein involved in the initiation of coagulation via contact activation system. Congenital FXII deficiency is a rare, asymptomatic disorder, associated with an isolated prolonged activated partial thromboplastin ...
Fayal Qadir
doaj  

Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor

Allergy, Asthma & Clinical Immunology, 2010
Until recently it was assumed that hereditary angioedema is a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity and protein in plasma were described.
Bork Konrad
doaj   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

A Patient with a Prolonged Activated Partial Thromboplastin Time and a Deep Intracerebral Haemorrhage

Case Reports in Neurology, 2012
We report on a 57-year-old woman with a pontine haemorrhage and an extremely prolonged activated partial thromboplastin time (aPTT) of more than 240 s, suggestive of a coagulation disorder.
Roger K. Schindhelm, Mariëlle J. Wondergem, Joke Admiraal, Gert Nap, Edwin ten Boekel, Lahcen Hani   +5 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Evaluation of thromboelastography in two factor XII-deficient cats

Journal of Feline Medicine and Surgery Open Reports, 2015
Case summary The current report describes thromboelastography (TEG) findings in two cats with factor XII (FXII) deficiency. The first cat was diagnosed with bilateral perinephric pseudocysts; hemostatic testing was performed prior to performing renal ...
Shauna L Blois, Marie K Holowaychuk, R Darren Wood   +2 more
doaj   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source