5 results match your criteria: "King Saud Bin Abdulaziz University-Health Science[Affiliation]"
Medullary brainstem gliomas in an adult: A rare case report and challenging tumor.
Surg Neurol Int
June 2023
Department of Neurosurgery, King Faisal Univeristy, Ahsa, Saudi Arabia.
Background: Medullary brainstem lesions are rare tumors that are challenging to treat due to their location in the brainstem, which controls vital functions such as breathing, heart rate, and blood pressure. While the most common subtype is the aggressive diffuse intrinsic pontine glioma, other subtypes exist, including focal brainstem gliomas and cervicomedullary gliomas. The prognosis for patients with brainstem gliomas is generally poor, and treatment options are limited.
View Article and Find Full Text PDFPhenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
March 2020
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
Article Synopsis
- RAMSVPS (Retinal Arterial Macroaneurysms with Supravalvular Pulmonic Stenosis) is a rare genetic condition affecting multiple systems, characterized by retinal macroaneurysms and heart issues.
- A case series of 30 patients highlights key findings, including a high frequency of recurrent bleeding from macroaneurysms and significant heart defects, with the majority needing surgical interventions.
- The study emphasizes the serious health risks associated with RAMSVPS, including potential for early death and liver complications, and suggests recommendations for early detection and management of these health issues.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
September 2019
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
N-alpha-acetylation is one of the most common co-translational protein modifications in humans and is essential for normal cell function. NAA10 encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. The auxiliary and regulatory subunits of the NatA complex are NAA15 and Huntington-interacting protein (HYPK), respectively.
View Article and Find Full Text PDFEndoscopic and Abdominal Management of Complete Benign Esophageal Obstruction.
ACG Case Rep J
April 2016
Department of Gastroenterology, King Saud Bin Abdulaziz University-Health Science, King Fahad Medical City, Riyadh, Saudi Arabia.
Benign esophageal strictures leading to complete esophageal occlusion are well known. In the pre-endoscopic era, such cases required surgery, but over the last decade, various novel endoscopic techniques have been developed to prevent morbidity and mortality. A 37-year-old man presented after 1 year of dysphagia and weight loss, and was found to have complete esophageal obstruction, not allowing even passage of guidewire.
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