Internal and emergency medicine
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The aim was to estimate the prevalence of low muscle mass (LMM) and low muscle mass associated with obesity (LMM-O) in healthy adult, and to verify the performance of raw bioelectrical impedance parameters (BIA) and vector analysis (BIVA) in the screening of this tow conditions. This is a cross-sectional study including 1025 healthy adults. Body composition was assessed by the BIA technique. ⋯ The RXc graph was able to identify LMM subjects, with clustering on the right side: area of low cellularity, high R/H and low-phase angle. Traditional anthropometric indices were the least effective in identifying LMM-O. The BIVA approach, PhA, R and R/H are effective in the screening of LMM and LMM-O, irrespective of age, gender, intra- and extracellular hydration status.
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Gallstones are among the most frequent hepatobiliary conditions. Although in most cases, they remain asymptomatic, they can cause complications and, in such cases, invasive treatments like endoscopic retrograde cholangiography (ERC) or cholecystectomy are required. Here, we present the results of genetic testing of a single family with a high incidence of symptomatic gallstones and cholestatic liver phenotypes. ⋯ All genotyped patients also carried the predisposing variants c.1331C>T and c.3084A>G of the hepatobiliary bile salt export pump ABCB11 in either heterozygous or homozygous form. Hence, we propose that these variants taken together may have contributed to the high frequency of gallstone disease in this family, although functional studies for some variants are still lacking. In this report, we present these findings and discuss the challenges associated with interpreting sequencing data.