Results 71 to 80 of about 293,929 (300)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Bluetongue in white-tailed deer (Odocoileus virginianus) in Northeastern Mexico

Brazilian Journal of Veterinary Pathology, 2017
Bluetongue (BT) and epizootic hemorrhagic disease of deer (EHD) are two distinct viral hemorrhagic diseases of domestic and wild ruminants caused by members of the family Reoviridae and transmitted by Culicoides midges.
Julio Martínez-Burnes, Hugo Barrios-García, Jorge Alva-Pérez, Rafael Ramírez-Romero, Luis J. García-Márquez, Alfonso López-Mayagoitia   +5 more
doaj   +1 more source

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]

, 2003
BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Abdalla, S A, Elliott, C G, Flanagan, J A, Gruenig, E, Halme, M, Harrison, R E, Kermeen, F, Laitinen, T, Machado, R D, McLaughlin, V, Morrell, N W, Olschewski, H, Robbins, I M, Rowell, J, Räisänen-Sokolowski, A, Sankelo, M, Trembath, R C   +16 more
core   +2 more sources

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Hepatic infarction following abdominal interventional procedures. [PDF]

, 2004
To clarify the incidence, background, and progress of hepatic infarction following interventional procedures, cases of hepatic infarction following interventional procedures at our department during the last decade were identified by reviewing the ...
Akaki, Shiro, Fujiwara, Hiroyasu, Hiraki, Takao, Hiraki, Yoshio, Kanazawa, Susumu, Mimura, Hidefumi, Naomoto, Yoshio, Tanaka, Noriaki, Yagi, Takahito, Yasui, Kotaro   +9 more
core   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Pathological anatomy study of a hemorrhagic disease in four (4) pigs

Revista Científica, 2010
Many diseases occur in pigs causing widespread hemorrhages around the world. Among them are viral or bacterial such as, Classical Swine Fever (C S F) which is produced by a Pestivirus (RNA), Togavirus group of the Flaviviridae family, besides African ...
Oswaldo Vale Echeto, Donitzi Vásquez, Jesús Camacho Bracho, Oswaldo Vale Oviedo, María Oviedo de Vale   +4 more
doaj  

Improved Stroke Detection at Early Stages Using Haar Wavelets and Laplacian Pyramid [PDF]

, 2014
Stroke merupakan pembunuh nomor tiga di dunia, namun hanya sedikit metode tentang deteksi dini. Oleh karena itu dibutuhkan metode untuk mendeteksi hal tersebut.
Ndung\u27u, M. (Michael), Tjandrasa, H. (Handayani)   +1 more
core   +3 more sources

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Suspected Crimean-Congo Haemorrhagic Fever Re-Infection: A Case Report with Atypical Serological Profile

Journal of Medical Microbiology and Infectious Diseases
A 53-year-old male farmer presented with clinical manifestations consistent with Crimean-Congo Hemorrhagic Fever (CCHF) virus infection, reporting a recent history of tick bite.
Mostafa Salehi-Vaziri, Tahmineh Jalali, Ali Asghar Bolandakhtar, Mehdi Fazlalipour, Ehsan Mostafavi, Sana Eybpoosh, Vahid Baniasadi, Mahsa Tavakoli, Tahereh Mohammadi, Sanam Azad-Manjiri, Motahareh Hosseini, Zahra Fereydouni, Mohammad Mehdi Gouya, Gary P Kobinger, Mohammad Hassan Pouriayevali   +14 more
doaj   +1 more source