Abstract

Context: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects the upper and lower motor neurons. Most cases are sporadic, being 5-10% familial. Currently, more than 20 genes are described as causing familial ALS, with C9ORF72 and SOD1 the most common. Case report: Woman, 42 years old, with progressive weakness in her left foot for 3 years evolving with difficulty walking. No family history. Neurological exam(NE): asymmetric stepagge gait. Asymmetric proximal, distal and axial muscle weakness and distal atrophy. Hyperactive reflexes. EMG: pre-ganglionic lesion in lower limbs with active denervation. Brain MRI: high signal intensity on left corticospinal tract. ALS genetic panel: c.3878G> A, heterozygois in ErbB4(OMIM* 600543). CASE 2: Female, 55 years old, with parkinsonism for 2 years, evolving with muscle weakness, myalgia, dysphonia and dysphagia. After 7 months, respiratory failure and death. Family history: ALS and atypical parkinsonism. NE: Global amyotrophy, facial hypomimia, dropped head, fasciculations on the tongue. Bradykinesia. Plastic hypertonia in the 4 limbs. Proximal and distal weakness. Babinski sign on the right. Oculomotor apraxia. Dysarthrophonia. EMG: pre-ganglionic lesion in the 4 limbs. Brain MRI: global cortical atrophy with temporal predominance. Exome: pathogenic variant, in heterozygosis c. 2428G>A in ErbB4. Conclusion: There are only 3 cases reported in the literature associated to pathogenic variants in this gene. We suggest an expansion of the clinical phenotype for ALS19.

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

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Summary

Introduction

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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