Results 51 to 60 of about 8,876 (241)

Coagulation factor XII haploinsufficiency is protective against venous thromboembolism in a population-scale multidimensional analysis

Nature Communications
Coagulation factor XII has been identified as a potential drug target that could prevent thrombosis without increasing the risk of bleeding. However, human data to support the development of factor XII-directed therapeutics are lacking.
Amelia K. Haj, David S. Paul, Sean J. Jurgens, Harish Eswaran, Lu-Chen Weng, Justine Ryu, Alfonso Rodriguez Espada, Sharjeel Chaudhry, Louis M. Feingold, Kristen Burke, Satoshi Koyama, Xin Wang, Joyce Francis, Seung Hoan Choi, Nigel Mackman, Wolfgang Bergmeier, Alex Burgin, Joel T. Rämö, Patrick T. Ellinor, Steven P. Grover, Pavan K. Bendapudi   +20 more
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

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

Genetic analysis for an inherited coagulation factor XII deficiency pedigree

Hematology
Objective: This study aimed to analyze the phenotype and genotype of a consanguineous marriage pedigree with inherited coagulation factor Ⅻ (FⅫ) deficiency and to elucidate the potential molecular pathogenesis.Clinical presentation: The proband was a 51 ...
Conglian Wu, Zhishan Zhang, Yiyin Chen, Mengcha Tian, Meina Liu, Shuibing Cheng   +5 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

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

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 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