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Condition: Rare Diseases

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Total 294 results found since Jan 2013.

Spontaneous Spinal Epidural Hematoma in an Adult Patient with Complex Congenital Heart Disease
We report the case of a 27-year-old man who developed sudden upper back pain with no specific precipitant. Five days later, he visited our emergency department complaining of weakness in both lower limbs and dysuria. He had a history of intracardiac repair and a Blalock-Park procedure for an interrupted aortic arch and ventricular septal defect in infancy. Additionally, he had undergone an aortic root dilatation and aortic valve replacement at the age of 10 because of progression of aortic and supra-aortic stenosis and had received chronic anticoagulation and antiplatelet therapy with warfarin and aspirin, respectively. An...
Source: International Heart Journal - July 8, 2021 Category: Cardiology Authors: Toshinobu Ifuku Toshihiro Nishiguchi Source Type: research

NIH-funded study finds gene therapy may restore missing enzyme in rare disease
(NIH/National Institute of Neurological Disorders and Stroke) A new study published in Nature Communications suggests that gene therapy delivered into the brain may be safe and effective in treating aromatic L-amino acid decarboxylase (AADC) deficiency. AADC deficiency is a rare neurological disorder that develops in infancy and leads to near absent levels of certain brain chemicals, serotonin and dopamine, that are critical for movement, behavior, and sleep.
Source: EurekAlert! - Medicine and Health - July 16, 2021 Category: International Medicine & Public Health Source Type: news

Spontaneous Spinal Epidural Hematoma in an Adult Patient with Complex Congenital Heart Disease
We report the case of a 27-year-old man who developed sudden upper back pain with no specific precipitant. Five days later, he visited our emergency department complaining of weakness in both lower limbs and dysuria. He had a history of intracardiac repair and a Blalock-Park procedure for an interrupted aortic arch and ventricular septal defect in infancy. Additionally, he had undergone an aortic root dilatation and aortic valve replacement at the age of 10 because of progression of aortic and supra-aortic stenosis and had received chronic anticoagulation and antiplatelet therapy with warfarin and aspirin, respectively. An...
Source: International Heart Journal - July 8, 2021 Category: Cardiology Authors: Toshinobu Ifuku Toshihiro Nishiguchi Source Type: research

Posterior reversible encephalopathy syndrome (PRES) in a patient with moyamoya disease: A case report
Conclusion: This report suggests that patients with MMD may be susceptible to PRES. It highlights the importance of considering PRES as a differential diagnosis while providing care to MMD patients with concurrent acute neurological symptoms and a prompt intervention contributes to a favorable clinical prognosis.
Source: Medicine - August 6, 2021 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Cerebral Venous Thrombosis: Clinical, Radiological, Biological, and Etiological Characteristics of a French Prospective Cohort (FPCCVT) —Comparison With ISCVT Cohort
Conclusions: We demonstrated that the FPCCVT cohort had radiological, biological, and etiological characteristics similar to the historical ISCVT cohort. Nevertheless, the initial clinical presentation was less severe in our study probably due to an improvement in diagnostic methods between the two studies.
Source: Frontiers in Neurology - November 8, 2021 Category: Neurology Source Type: research

Basilar artery trunk aneurysm: clinical and angiographic outcomes of endovascular treatment
Conclusions EVT might be a feasible option for this rare disease entity. Unfavorable angiographic outcome might be expected in a large/giant aneurysm or a long lesion. It can be difficult to treat BA trunk aneurysms by EVT, needing multiple procedures or various techniques due to diverse clinical and angiographic features.
Source: Journal of NeuroInterventional Surgery - February 16, 2022 Category: Neurosurgery Authors: Sim, S. Y., Chung, J., Choi, J. H., Kim, M. J., Shin, Y. S., Lim, Y. C. Tags: Hemorrhagic stroke Source Type: research

The neurovascular unit in leukodystrophies: towards solving the puzzle
AbstractThe neurovascular unit (NVU) is a highly organized multicellular system localized in the brain, formed by neuronal, glial (astrocytes, oligodendrocytes, and microglia) and vascular (endothelial cells and pericytes) cells. The blood –brain barrier, a complex and dynamic endothelial cell barrier in the brain microvasculature that separates the blood from the brain parenchyma, is a component of the NVU. In a variety of neurological disorders, including Alzheimer’s disease, multiple sclerosis, and stroke, dysfunctions of the N VU occurs. There is, however, a lack of knowledge regarding the NVU function in leukodyst...
Source: Fluids and Barriers of the CNS - February 28, 2022 Category: Neuroscience 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

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