4 research outputs found

    rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population

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    There is now substantial evidence that zinc-finger proteins are implicated in adiposity. Aims were to datamine for high-frequency (near-neutral selection) pretermination-codon (PTC) single-nucleotide polymorphisms (SNPs; n = 141) from a database with > 550,000 variants and analyze possible association with body mass index in a large Polish sample (n = 5757). BMI was regressed (males/females together or separately) against genetic models. Regression for rs67047829 uncovered an interaction-independent association with BMI with both sexes together: mean ± standard deviation, kg/m2: [G];[G], 25.4 ± 4.59 (n = 3650); [G](;)[A], 25.0 ± 4.28 (n = 731); [A];[A], 23.4 ± 3.60 (n = 44); additive model adjusted for age and sex: p = 4.08 × 10–5; beta: − 0.0458, 95% confidence interval (CI) − 0.0732 : − 0.0183; surviving Bonferroni correction; for males: [G];[G], 24.8 ± 4.94 (n = 1878); [G](;)[A], 24.2 ± 4.31 (n = 386); [A];[A], 22.4 ± 3.69 (n = 23); p = 4.20 × 10–4; beta: − 0.0573, CI − 0.0947 : − 0.0199. For average-height males the difference between [G];[G] and [A];[A] genotypes would correspond to ~ 6 kg, suggesting considerable protection against increased BMI. rs67047829 gives a pretermination codon in ERV3-1 which shares an exonic region and possibly promoter with ZNF117, previously associated with adiposity and type-2 diabetes. As this result occurs in a near-neutral Mendelian setting, a drug targetting ERV3-1/ZNF117 might potentially provide considerable benefits with minimal side-effects. This result needs to be replicated, followed by analyses of splice-variant mRNAs and protein expression.The POPULOUS database was the outcome of the project TESTOPLEK which was funded by the Innovative Economy Operational Programme provided by the European Regional Development Fund 2007–2013. This source had no involvement in the study other than funding for the database

    Analysis of the Influence of Pre-Pregnancy BMI and Weight Gain during Pregnancy on the Weight of Healthy Children during the First 2 Years of Life: A Prospective Study

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    Background: Increased pre-pregnancy maternal BMI (pBMI) and gestational weight gain (GWG) have been found to increase infants’ birthweight and result in the programming of child weight and impact its later weight gain. Aim: To assess the impact of pBMI and GWG on the weight of children from birth to 2 years of age and over the duration of breastfeeding. Methods: Single Centre observational prospective longitudinal cohort study. Data were collected from medical records, and medical history. The analysis of multiple linear and mixed models was involved. Findings: 20% of females were overweight, while 13% were obese before the pregnancy. An overall model, including gender and smoking, indicated a significant impact of pBMI category on a child’s birth mass (p = 0.01). The GWG category affected a child’s birth weight (p = 0.018, Effect size 0.41). pBMI did not affect the breastfeeding duration. Conclusion: pBMI and GWG correlate with birth weight and weight in neonatal period, however they become insignificant in later childhood. Weight assessment methods among children aged up to two years of age require standardization. Maternal weight before the pregnancy nor the weight gain during the pregnancy do not influence the length of breastfeeding. The biggest limitation was the small sample size and the failure to account for weight gain per trimester of pregnancy. Further research on a larger population should be continued

    The Role of Deep Hypothermia in Cardiac Surgery

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    Hypothermia is defined as a decrease in body core temperature to below 35 °C. In cardiac surgery, four stages of hypothermia are distinguished: mild, moderate, deep, and profound. The organ protection offered by deep hypothermia (DH) enables safe circulatory arrest as a prerequisite to carrying out cardiac surgical intervention. In adult cardiac surgery, DH is mainly used in aortic arch surgery, surgical treatment of pulmonary embolism, and acute type-A aortic dissection interventions. In surgery treating congenital defects, DH is used to assist aortic arch reconstructions, hypoplastic left heart syndrome interventions, and for multi-stage treatment of infants with a single heart ventricle during the neonatal period. However, it should be noted that a safe duration of circulatory arrest in DH for the central nervous system is 30 to 40 min at most and should not be exceeded to prevent severe neurological adverse events. Personalized therapy for the patient and adequate blood temperature monitoring, glycemia, hematocrit, pH, and cerebral oxygenation is a prerequisite and indispensable part of DH
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