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Hace 1 día · Hereditary angioedema (HAE) is a rare, debilitating, life-threatening genetic disorder characterized by recurrent attacks of subcutaneous and/or submucosal angioedema [].Several forms of HAE have been defined based on gene mutations: (1) type 1 HAE identified as C1 inhibitor (C1-INH) deficiency with low levels of C1-INH; (2) type 2 HAE identified as C1-INH dysfunction with normal or slightly ...
Hace 4 días · Descubre la oferta de cine y películas en español. Gratis, de todos los géneros y para todos los públicos en RTVE Play.
Hace 1 día · Background Pulmonary arteriovenous malformations are a relatively uncommon medical condition, affecting roughly 1 in every 2500 individuals. Of those suffering from pulmonary arteriovenous malformations, 80% have an underlying genetic condition: hereditary hemorrhagic telangiectasia. Case presentation We present the case of a 20-year-old Pakistani male with a history of persistent slower-onset ...
Hace 1 día · Nosebleeds and intracranial hemorrhage from brain arteriovenous malformations (bAVMs) are among the most devastating symptoms of patients with hereditary hemorrhagic telangiectasis (HHT). All available managements have limitations. We showed that intravenous (i.v.) delivery of soluble Feline McDonough Sarcoma (FMS)-related tyrosine kinase 1 using an adeno-associated viral vector (AAV9-sFLT1 ...
Hace 6 días · La información y el análisis sobre películas y series españolas. Noticias, críticas, reportajes, ... Cine con Ñ es el medio online sobre cine español.
Hace 5 días · Despicable Me 4. Gru, Lucy, Margo, Edith y Agnes le dan la bienvenida a un nuevo miembro a la familia, Gru Jr., quien está decidido a atormentar a su papá. Gru se enfrenta a un nuevo némesis llamado Maxime Le Mal y su novia Valentina, y la familia se ve obligada a huir.
Hace 2 días · Rare, inherited variants in DNA damage repair (DDR) genes have a recognised role in prostate cancer (PrCa) susceptibility. In addition, these genes are therapeutically targetable. While rare variants are informing clinical management in other common cancers, defining the rare disease-associated variants in PrCa has been challenging. Here, whole-genome and -exome sequencing data from two ...
