Abstract
Background: Dravet syndrome (DS) is a rare and severe epileptic syndrome of childhood with a prevalence around 1/40,000 people worldwide. Approximately 80% of patients with DS present SCN1A pathogenic variants, which encodes an alpha subunit of a neural voltage- dependent sodium channel. SCN1A variants were also related to DS. There is a correlation between PCDH19 pathogenic variants, encodes the protocadherin 19, and a similar disease to DS known as DS-like phenotype. Objectives: To clarify the differences between DS and DS-like phenotype according to the SCN1A and PCDH19 variants. Methodology: A review from March/2019 to November/2020 was conducted in PubMed and VHL databases, following PRISMA criteria. Results: 19 studies were included and a significant proportion of patients with DS carrying SCN1A was greater than patients with DS-like phenotype harboring PCDH19 variants (76.6% vs. 23.4%). Considering SCN1A and PCDH19, 47 variants were pathogenic and 12 of uncertain significance; 25% were deletions and 75% were single- nucleotide variants. Autism was predominantly observed in patients with DS-like carrying PCDH19 variants compared to SCN1A variants carriers (62.5% vs. 37.5%, p=0.044). In addition, it was noticed a significant predisposition to hyperthermia during seizures in patients with variants in the PCDH19 (p=0.003). There was no significance differences between both groups and cognitive deficit, ataxia, behavior problems, and motor deficit. Conclusions: The study is the first to point out differences between the DS and DS-like phenotype according to the SCN1A and PCDH19 variants.
Highlights
Capsaicin is able to induce mast cell degranulation, an event probably related to the pathophysiology of a migraine attack
The present review study aimed to address the mechanisms of action of capsaicin and other chemical inducers in mast cell degranulation and an interaction of nerves and events that happen in the dura mater with the activation of mast cells
Conclusion: the analyzed data indicate that the polymorphisms contributed to the susceptibility to Parkinson’s disease (PD), further studies related to the polymorphisms and their relationship to PD are still needed for more ethnic groups, and early diagnosis is possible
Summary
Capsaicin is able to induce mast cell degranulation, an event probably related to the pathophysiology of a migraine attack. Methods: A literature review and an observational, descriptive and transversal data collect on treatment for acute demyelinating polyradiculoneuritis, available at DATASUS from January 2008 to December 2020, and articles available at Scielo and PubMed. Results: There were 7,917 hospitalizations, representing a total expenditure of R$ 9,392,552.04, 2009 being the year with the highest number of hospitalizations (809) and 2017 with the highest amount spent during the period (R$ 967,284.65). Methods: A literature review and an observational, descriptive and transversal data collect on surgical treatment was carried out, available from January 2008 to December 2020 and articles available in Scielo, Lilacs and PubMed. Results: There were 15,148 hospitalizations for surgical procedures for the treatment of chronic subdural hematoma, representing a total expenditure of R$ 45,365,258.21, with 2018 being the year with the highest number of hospitalizations (1,418) and with the highest amount spent during the period (R$ 4,570,334.28). Conclusions: The “Coca-Cola Bottle sign” is a classic sign of Graves’ disease, some signs, such as, unilateral and single orbital musculature involvement, may be suggestive of involvement by other etiologies, suggesting the benefit of an early expanded investigation
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