Clinics
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Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of which are benign polymorphisms. Identifying rare disease-causing SNVs remains challenging, and often requires functional in vitro studies. Prioritizing the most likely pathogenic SNVs is of utmost importance, and several computational methods have been developed for this purpose. However, these methods are based on different assumptions, and often produce discordant results. The aim of the present study was to evaluate the performance of 11 widely used pathogenicity prediction tools, which are freely available for identifying known pathogenic SNVs: Fathmn, Mutation Assessor, Protein Analysis Through Evolutionary Relationships (Phanter), Sorting Intolerant From Tolerant (SIFT), Mutation Taster, Polymorphism Phenotyping v2 (Polyphen-2), Align Grantham Variation Grantham Deviation (Align-GVGD), CAAD, Provean, SNPs&GO, and MutPred. ⋯ Computational algorithms are important tools for SNV analysis, but their correlation with functional studies not consistent. In the present analysis, the best performing tools (based on accuracy, precision, and specificity) were Mutation Assessor, MutPred, and SNPs&GO, which presented the best concordance with functional studies.
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Positive fluid balance is frequent in critically ill patients and has been considered a potential biomarker for acute kidney injury (AKI). This study aimed to evaluate positive fluid balance as a biomarker for the early detection of AKI in critically ill patients. ⋯ These results suggest that a positive fluid balance might be an early biomarker for AKI development in critically ill patients.
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Bacterial and aseptic meningitis after neurosurgery can present similar clinical signs and symptoms. The aims of this study were to develop and test a molecular method to diagnose bacterial meningitis (BM) after neurosurgery. ⋯ Molecular methods may complement the diagnosis, guide treatment, and identify non-cultivable microorganisms. We suggest the association of methods for suspected cases of BM after neurosurgery, especially for instances in which the culture is negative.
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To identify the clinical discriminative value and determinants of arterial stiffness in individuals with type 2 diabetes mellitus (T2DM). ⋯ In T2DM, an indicator of the discriminative value of arterial stiffness was cfPWV of 7.9 m/s. Clinical findings and comorbidities, such as hypertension, glucose, poor glycemic control, and dyslipidemia, were associated with and were determinants of arterial stiffness in T2DM. Reinforcement of monitoring risk factors, such as hypertension, dyslipidemia, and glycemic control, seems to be essential to the process of arterial stiffening. Confirmation of this discriminative value in larger populations is recommended.
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Several predictors of type 2 diabetes mellitus (T2DM) remission after metabolic surgery have been proposed and used to develop predictive scores. These scores may not be reproducible in diverse geographic regions with different baseline characteristics. This study aimed to identify predictive factors associated with T2DM remission after Roux-en-Y gastric bypass (RYGB) in patients with severe obesity. We hypothesized that the body composition alterations induced by bariatric surgery could also contribute to diabetes remission. ⋯ Preoperative C-peptide levels can be useful for predicting T2DM remission after RYGB. Trunk mass is the most important difference in postoperative body composition changes between non-diabetic and diabetic patients.