Revista da Associacao Medica Brasileira (1992)
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Rev Assoc Med Bras (1992) · Jan 2023
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.
Childhood epilepsy is a common neurological disorder with a prevalence of 300-600 cases per 100,000 people. It is associated with refractory epilepsies, global developmental delay, and epileptic encephalopathies, causing epileptic syndromes characterized by cognitive and behavioral disorders. ⋯ Although the development of gene panels aids in diagnosis, there are still unidentified disorders in this illness category, which is highly variable in genotype and phenotype. Understanding the genetic etiology is vital for genetic counseling and, maybe, the future development of remedies for the etiology.
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Rev Assoc Med Bras (1992) · Jan 2023
The evaluation of superoxide dismutase 1 gene insertion/deletion variant in athletes.
Regular exercise benefits health by increasing the body's antioxidant defenses. However, excessive exercise can produce excessive reactive oxygen species, which can lead to oxidative stress. Superoxide dismutase is the primary enzyme involved in the elimination of reactive oxygen species. This study aimed to determine the relationship between the SOD1 gene insertion/deletion variant and elite athletes. ⋯ As far as we know, this is the first study to evaluate the SOD1 insertion/deletion variant in athletes in Turkey. Our results showed that the SOD1 I allele was more common in female athletes, but not in male athletes.
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Rev Assoc Med Bras (1992) · Jan 2023
The efficacy of liraglutide combined with intragastric balloon on weight loss.
Intragastric balloon placement is an effective method for weight reduction. The aim of this study was to evaluate the efficacy of combining liraglutide with intragastric balloon. ⋯ Liraglutide has benefits in terms of weight, percent body fat, and body mass index reduction when administered with intragastric balloon.
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Rev Assoc Med Bras (1992) · Jan 2023
Does enteral nutrition through a percutaneous endoscopic gastrostomy, attenuate Helicobacter pylori colonization?: is it worth mentioning?
In patients who experience difficulties in oral feeding, alimentary intake can be supported by creating direct access into the stomach through a percutaneous endoscopic gastrostomy. The present study purposed to compare naïve and exchanged percutaneous endoscopic gastrostomy tubes in terms of Helicobacter pylori infection and other clinical characteristics. ⋯ Preliminary outcomes of the present study revealed that enteral nutrition attenuates the incidence of Helicobacter pylori infection. Considering the acute-phase reactant, the significantly lower ferritin values in the exchange group suggest that there is no active inflammatory process in the patients and that immunity is sufficient.
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Rev Assoc Med Bras (1992) · Jan 2023
Effect of a combination of gliptin and metformin on serum vitamin B12, folic acid, and ferritin levels.
The primary objective of this study was to explore the impact of metformin and metformin/gliptin combination therapy on the serum concentrations of vitamin B12, ferritin, and folic acid in individuals diagnosed with type 2 diabetes. ⋯ After 1 year, both groups taking metformin and metformin/gliptin showed low serum ferritin and vitamin B12 levels. Therefore, vitamin B12 levels in patients using these drugs should be closely monitored. Ferritin levels can be used to indicate whether glycemic control has been achieved.