Bruuswelch3823

BACKGROUND French Polynesia is a French overseas collectivity in the South Pacific Ocean, where data on infective endocarditis (IE) are lacking. AIMS To investigate the epidemiology and outcomes of IE in French Polynesia. METHODS All hospital records from consecutive patients hospitalized in Taaone Hospital, Tahiti, from 2015 to 2018, with an International Classification of Diseases, 10th revision, separation diagnosis of IE (I330), were reviewed retrospectively. RESULTS From 190 hospital charts reviewed, 105 patients with a final diagnosis of IE, confirmed according to the modified Duke criteria, were included. The median duration of follow-up was 71 days (interquartile range 18-163 days). The mean age was 55±17 years, and there were 68 men (65%). Thirty-five patients (33%) had a history of rheumatic carditis and 43 (41%) had a prosthetic valve. There were 40 (38%) cases of staphylococcal IE, 32 (30%) of streptococcal IE and six (6%) of enterococcal IE. Cardiogenic shock, septic shock and clinically relevant cerebral complications were strongly associated with death from any cause (hazard ratio [HR] 16.85, 95% confidence interval [CI] 5.45-52.05 [P less then 0.001]; HR 2.62, 95% CI 1.23-5.56 [P=0.01]; and HR 4.14, 95% CI 1.92-8.92 [P less then 0.001], respectively). Seventy-three patients (69%) had a theoretical indication for surgery, which was performed in 38 patients (36%). Lack of surgery when there was a theoretical indication was significantly associated with death (HR 6.93, 95% CI 3.47-13.83; P less then 0.0001). CONCLUSIONS The pattern of IE in French Polynesia differs from Western countries in many ways. Postrheumatic valvular disease remains the main underlying disease, and access to emergency heart surgery is still a challenge. BACKGROUND Fibroblast growth factor 23 (FGF-23) has a role in arterial stiffness (AS) apart from regulating mineral metabolism. We investigated the association between FGF-23 concentration and peripheral AS in renal transplantation (RT) recipients. METHODS The fasting blood samples of RT recipients (n = 66) were collected and analyzed. RESULTS A total of 29 (43.9%) RT recipients were classified under the peripheral AS group. The RT recipients in this group had a higher prevalence of diabetes (P  less then  0.001), hypertension (P = 0.001), and metabolic syndrome (P = 0.023); longer post-RT duration (P = 0.006); higher systolic blood pressure (P  less then  0.001) and diastolic blood pressure (P = 0.024); and higher fasting glucose (P = 0.002), total cholesterol (P = 0.049), blood urea nitrogen (P = 0.027), phosphorus (P = 0.047), and FGF-23 concentrations (P = 0.003) and FGF-23/α-klotho ratio (P  less then  0.001) but lower klotho concentrations (P = 0.025) than those in the control group. Moreover, FGF-23 concentration (adjusted odds ratio 1.057, 95% confidence interval 1.011-1.105, P = 0.015) was found to be an independent predictor of peripheral AS in RT recipients. CONCLUSIONS Serum FGF-23 concentration was a significant predictor of peripheral AS in RT recipients. BACKGROUND The secretor type α(1,2)fucosyltransferase gene (FUT2) is known to be rich in population-specific polymorphisms. However, genetic variations of FUT2 have not been well examined in Latin American populations in which nonsecretors are rare. METHODS Conventional polymerase chain reactions and direct sequencing were performed to detect single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) of FUT2 in Mexicans including Americans of Mexican ancestry, Puerto Ricans, Caribbeans, and Colombians. FUT2 alleles were determined by cloning into plasmids or PHASE software. The impact of uncharacterized missense SNPs on the enzyme activity were examined by transient transfection assays and estimated by several software programs. RESULTS Three alleles, Se357, Se, and se428, were common, and the frequency of nonsecretors was relatively low in the studied populations. Selleckchem GDC-0980 We also encountered several alleles specific to Africans, Europeans, and South and East Asians including a South Asian-specific sedel. In contrast to the in silico prediction, a transient expression study suggested that both of two missense SNPs, 235G > A and 304G > A, did not impair the enzyme activity. CONCLUSIONS The allelic polymorphism of FUT2 suggests that the modern Latin American populations were formed via genetic admixture among Native Americans and populations whose ancestors migrated from other continents. In this study, we have observed a discrepancy between in silico and functional analyses for FUT2 for the first time. Therefore, experimental functional analysis is required for evaluation of SNPs of FUT2. V.INTRODUCTION Carnitine is essential for long-chain fatty acid oxidation in muscle and heart. Tissue stores are regulated by organic cation/Cn transporter plasmalemmal Octn2. We previously demonstrated low carnitine in quadriceps/gluteus and heart of adult mdx mice. METHODS We studied protein and mRNA expression of Octn2, mitochondrial Octn1 and peroxisomal Octn3 in adult male C57BL/10ScSn-DMD mdx/J quadriceps, heart, and diaphragm compared to C57BL/10SnJ mice. RESULTS We demonstrated reduction in mOctn2 expression on Western blot and similar expression of mOctn1 and mOctn3 in mdx quadriceps, heart and diaphragm. There was a significant upregulation of mOctn1 and mOctn2 mRNA by qRT-PCR in mdx quadriceps and of mOctn2 and mOctn3 mRNA in mdx heart. We showed upregulation of mdx mOctn1 and mOctn3 mRNA but no increase in protein expression. DISCUSSION Dystrophin deficiency likely disrupts Octn2 expression decreasing muscle carnitine uptake thus contributing to membranotoxic long-chain acyl-CoAs with sarcolemmal and organellar membrane oxidative injury providing a treatment rationale for early L-carnitine in DMD. V.BACKGROUND-AIM Measurement of serum thyrotropin is currently the recommended test for the screening of thyroid dysfunction, while serum free thyroxine is kept as a reflex test. In our laboratory, the strategy followed in adult individuals from Primary Care includes a 'safety margin' for requests with a thyrotropin ≤1.0 or ≥4.0 mIU/L (normal 0.35-4.95 mIU/L). Our aim was to optimize the thyrotropin cut-off values for the addition of free thyroxine and, based on these cut-offs, to retrospectively analyze avoidable free thyroxine measurements and possible adverse clinical consequences. METHODS Retrospective observational study performed in a tertiary care hospital between 2013 and 2018. We considered all laboratory requests for screening of thyroid dysfunction (TD) in adult patients from Primary Care. Requests from patients with a previous diagnosis of thyroid disease or pregnant women were excluded. Different receiver operating characteristic (ROC) curves were performed and the obtained thyrotropin cut-off values were compared.