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  1. Article: Arginine for the Treatment of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Systematic Review.

    Argudo, Jennifer M / Astudillo Moncayo, Olga M / Insuasti, Walter / Garofalo, Gabriela / Aguirre, Alex S / Encalada, Sebastian / Villamarin, Jose / Oña, Sebastian / Tenemaza, Maria Gabriela / Eissa-Garcés, Ahmed / Matcheswalla, Sakina / Ortiz, Juan Fernando

    Cureus

    2022  Volume 14, Issue 12, Page(s) e32709

    Abstract: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a mitochondrial disease that lacks a definitive treatment. Lately, there has been an increased interest in the scientific community about the role of arginine in ... ...

    Abstract Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a mitochondrial disease that lacks a definitive treatment. Lately, there has been an increased interest in the scientific community about the role of arginine in the short and long-term settings of the disease. We aim to conduct a systematic review of the clinical use of arginine in the management of MELAS and explore the role of arginine in the pathophysiology of the disease. We used PubMed advanced-strategy searches and only included full-text clinical trials on humans written in the English language. After applying the inclusion/exclusion criteria, four clinical trials were reviewed. We used the Meta-analysis of Observational Studies in Epidemiology (MOOSE) guidelines and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol for this systematic review. We used the Cochrane Collaboration risk-of-bias tool to assess the bias encountered in each study. Overall, IV arginine seems to be effective in improving symptoms during acute attacks of MELAS, while oral arginine supplementation increases endothelial function, preventing further stroke-like episodes.
    Language English
    Publishing date 2022-12-19
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.32709
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome.

    Moncayo, Juan A / Vargas, Maite N / Castillo, Isabel / Granda, Pablo V / Duque, Andrea M / Argudo, Jennifer M / Matcheswalla, Sakina / Lopez Dominguez, Guillermo E / Monteros, Gustavo / Andrade, Andres F / Ojeda, Diego / Yepez, Mario

    Cureus

    2022  Volume 14, Issue 7, Page(s) e27154

    Abstract: Protocadherin 19 (PCDH19) syndrome is inherited as an X-linked pattern and affects mainly females. This syndrome is caused by a mutation in the PCDH19 gene encoding for the protocadherin protein. It is characterized by refractory seizures during febrile ... ...

    Abstract Protocadherin 19 (PCDH19) syndrome is inherited as an X-linked pattern and affects mainly females. This syndrome is caused by a mutation in the PCDH19 gene encoding for the protocadherin protein. It is characterized by refractory seizures during febrile episodes with neuropsychiatric manifestations. There is no consensus on the treatment of PCDH19. We conducted a literature review to investigate the main drugs used for this syndrome, and to evaluate the best possible course of adjuvant treatment for these patients. We used an advanced PubMed search strategy with the following inclusion criteria: a) full-text papers, b) English Language, and c) studies conducted in humans. Exclusion criteria: a) literature reviews, b) systematic reviews, and c) metanalysis. We gathered 26 observational papers to conduct this literature review on clobazam and bromide which have been shown to reduce seizures by 50%. Corticosteroids improved neurological symptoms during the episodes in a few patients. Nevertheless, they recurred after a few months. Preliminary results of ganaxolone, which is still under study, demonstrated a reduction of 60% in seizure episodes. A ketogenic diet has been studied to treat several refractory epilepsies, including PCDH19; it has promising results as effective adjuvant therapy in the resolution of status epilepticus, suggesting it could be used as part of the treatment in early childhood. Stiripentol was given as adjuvant therapy in a patient with PCDH19 epilepsy resulting in the most extended period of seizure-free episodes, but more studies must be performed to assess its efficacy.
    Language English
    Publishing date 2022-07-22
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.27154
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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