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Your search keyword '"Abreu, Nicolas J."' showing total 2 results
Start Over Author "Abreu, Nicolas J." Publisher sage publications inc.
2 results on '"Abreu, Nicolas J."'

1. Two cases of MT-ND5 -related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.

Author

Wilkins, Sophie R, Yu, Amy W, Steigerwald, Connolly, Tanji, Kurenai, Iglesias, Alejandro D, Hirano, Michio, Kister, Ilya, Riley, Claire S, and Abreu, Nicolas J

Subjects
NEUROMYELITIS optica, MITOCHONDRIAL pathology, SPINAL cord, OPTIC nerve, GENETIC testing
Abstract

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease primarily affecting the optic nerves and spinal cord, which is usually associated with anti-aquaporin-4 antibodies. Here, we present two individuals who were negative for anti-aquaporin-4 antibodies and were initially diagnosed with seronegative NMOSD. Each patient's clinical course and radiographic features raised suspicion for an alternative disease process. Both individuals were found to have pathogenic variants of MT-ND5, encoding subunit 5 of mitochondrial complex I, ultimately leading to a revised diagnosis of a primary mitochondrial disorder. These cases illustrate the importance of biochemical and genetic testing in atypical cases of NMOSD. [ABSTRACT FROM AUTHOR]

Published
2023
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2. Book Review: Fragile X Syndrome and Premutation Disorders: New Developments and Treatments.

Author

Abreu, Nicolas J.

Subjects
*FRAGILE X syndrome, *INTELLECTUAL disabilities, *MEDICAL personnel
Abstract

I Fragile X Syndrome and Premutation Disorders: New Developments and Treatments i wonderfully captures the excitement in the field as better understanding of the pathophysiology of disease has opened the doors to disease-specific therapies, as well as the imperative to tackle the ongoing clinical and scientific questions to improve the lives of individuals touched by I FMR1 i disorders. It also can provide perspective on medical decision making, such as treatment options for self-injurious behaviors and navigating discussions with families regarding emerging therapies in Fragile X syndrome. Future editions may tackle additional topics like genetic counseling and revisit targeted treatments in light of ongoing clinical trials and genetically mediated therapies in development. [Extracted from the article]

Published
2021
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