Revista da Associacao Medica Brasileira (1992)
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Rev Assoc Med Bras (1992) · Jan 2023
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Charcot-Marie-Tooth disease covers a group of inherited peripheral neuropathies. The aim of this study was to investigate the effect of targeted next-generation sequencing panels on the molecular diagnosis of Charcot-Marie-Tooth disease and its subtypes in routine clinical practice, and also to show the limitations and importance of next-generation sequencing in the diagnosis of Charcot-Marie-Tooth diseases. ⋯ The molecular etiology in Charcot-Marie-Tooth disease patients can be determined according to pre-test evaluation, deciding the inheritance type with pedigree analysis, the clinical phenotype, and an algorithm for the genetic analysis. The presence of patients without a molecular diagnosis in all the literature suggests that there are new genes or mechanisms waiting to be discovered in the etiology of Charcot-Marie-Tooth disease.
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Rev Assoc Med Bras (1992) · Jan 2023
Sociodemographic characteristics associated with indications for surgical menopause in women: a retrospective study.
The aim of this study was to evaluate the surgical menopause indications and sociodemographic characteristics of women. ⋯ More than half of the women with surgical menopause indications were between 41 and 46 years of age. Additionally, 54.9% of the women had a chronic disease. Therefore, it is recommended to plan preventive health services for morbidity and mortality risks that may develop due to surgical menopause.
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Rev Assoc Med Bras (1992) · Jan 2023
Role of magnetic resonance imaging in the differentiation of mucinous ovarian carcinoma and mucinous borderline ovarian tumors.
This study was carried out to investigate the differentiation of mucinous borderline ovarian tumor from mucinous ovarian carcinoma using magnetic resonance imaging. ⋯ magnetic resonance imaging findings of these two pathologies overlapped considerably. Compared with mucinous borderline ovarian tumors, mucinous ovarian carcinomas frequently had mural nodules larger than 5 mm, larger tumor size, peritoneal dissemination, and abnormal ascites.
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Rev Assoc Med Bras (1992) · Jan 2023
Accuracy of intrapartum cardiotocography in identifying acidemia at birth by umbilical cord blood gasometry in high-risk pregnancies.
The aim of this study was to evaluate the accuracy of intrapartum cardiotocography in identifying acidemia at birth by umbilical cord blood gasometry in high-risk pregnancies. ⋯ All three categories of intrapartum cardiotocography showed low sensitivity and high specificity for identifying acidemia at birth.
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Rev Assoc Med Bras (1992) · Jan 2023
Electrophysiological study in chagasics with syncope and conduction disorder.
Investigation of syncope involves the use of electrophysiological study, particularly in patients with cardiac conduction disorder. There is conflicting evidence about the role of electrophysiological study in patients with Chagas disease. ⋯ More than half of the patients with Chagas disease, syncope, and cardiac conduction disorder have inducible malignant ventricular arrhythmias. Prolonged HV interval was observed in only 20% of population. Wide QRS, prolonged HV, reduced ejection fraction, and higher Rassi score were associated with increased risk of malignant ventricular arrhythmias.