Publications by authors named "Lara Albuquerque Brito"
Background: Gonadal dysgenesis with minifascicular neuropathy (GDMN) is a rare autosomal recessive condition associated with biallelic DHH pathogenic variants. In 46, XY individuals, this disorder is characterized by an association of minifascicular neuropathy (MFN) and gonadal dysgenesis, while in 46, XX subjects only the neuropathic phenotype is present. Very few patients with GDMN have been reported so far.
View Article and Find Full Text PDFBackground: Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon. We will report a rare case of association of pathogenic variants on PNPLA2 and CLCN1 genes with a mixed phenotype of NLSD-M and a subclinical form of Thomsen's congenital myotonia.
View Article and Find Full Text PDFArticle Synopsis
- Headache is a common symptom in COVID-19, affecting 6.5% to 34% of patients, but previous studies often included unverified cases or focused on severe cases.
- The study analyzed 24 laboratory-confirmed COVID-19 patients who reported headaches, revealing that the average age was 53.8 years and most had no prior history of headaches.
- The headaches were mainly bifrontal or holistic, of a pressure quality, typically began early in illness, and worsened with physical activity, but no unique characteristics were found to distinguish them from other headache causes.
Objective: To evaluate the hepatic effects of colonic carcinogenesis induced by azoxymethane at different doses and times of exposure in rats.
Methods: Forty-four Wistar rats were divided into four groups. The animals were eight weeks at the beginning of the experiment.