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Condition: Rare Diseases
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Total 294 results found since Jan 2013.
Hereditary thrombotic thrombocytopenic purpura and COVID-19: Impacts of vaccination and infection in this rare disease
DISCUSSION: The risk of an acute episode triggered by COVID-19 seems higher than following vaccination in hTTP patients, who can be safely vaccinated against SARS-CoV-2.PMID:36284639 | PMC:PMC9585384 | DOI:10.1002/rth2.12814
Source: Thrombosis and Haemostasis - October 26, 2022 Category: Hematology Authors: Erika Tarasco Anne Sophie von Krogh Radomira Hrdlickova Thomas R Braschler Teresa Iwaniec Paul N Kn öbl Eriko Hamada Oleg Pikovsky Stefan Farese Odit Gutwein Petr Kessler Nina H Schultz Charis von Auer Jerzy Windyga Kenneth Friedman Ingrid Hrachovinova J Source Type: research
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia
AbstractAdenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due toADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia. This retrospective study conducted at seven major tertiary medical centers examined the phenotypic and genotypic variabilities, clinical and diagnostic findings, and treatment outcomes among 20 Saudi patients with DADA2 from 14 families. The median age of the study cohort was 9.5 years (4–26 years). The clin...
Source: Journal of Clinical Immunology - October 14, 2022 Category: Allergy & Immunology Source Type: research
Spontaneous cervical epidural haematoma mimicking stroke: a case report and literature review
Folia Neuropathol. 2022;60(2):261-265. doi: 10.5114/fn.2022.116940.ABSTRACTSpontaneous spinal epidural haematoma (SSEH) is a rare disease that requires emergency decompression or haematoma evacuation to prevent permanent neurological deficits. Hemiparesis is an extremely rare presentation of SSEH, commonly misdiagnosed as stroke. With the help of case studies and references, this paper comprehensively discusses the effective methods to distinguish SSEH from stroke and provides theoretical support and ideas for rapid and accurate identification of SSEH. Herein, we report on the case of a 51-year-old man with SSEH who presen...
Source: Folia Neuropathologica - August 11, 2022 Category: Neurology Authors: Tian Lv Yaya Bao Jingjing Lou Dadong Gu Source Type: research
