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LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls
778
Abstracts
However the gut–brain axis peptide hormone secretion has not been evaluated so far in CD patients prior to treatment initiation or under treatment, irrespective of patients having concomitant T1DM or not. The aim of the study was therefore to evaluate these gut hormones at the pre-prandial levels of CD patients before and under treatment. Methods: Forty-seven CD children: 12 untreated (UCD), 22 treated with gluten-free-diet (TCD) and 13 treated CD with co-existing T1DM (DCD) and 18 healthy controls (HC) were enrolled. Pre-prandial glucagon-like-peptide-1 (GLP-1), glucose-dependent-insulinotropicpolypeptide (GIP), active-amylin, acylated-ghrelin (AG), leptin, pancreatic-polypeptide (PP) and peptide-tyrosine-tyrosine (PYY) were determined with hormone-map-array technology. Results: We found in CD patients compared to HC that the concentration of: a) GLP-1 was reduced remarkably in all patients with CD (p = 0.008), b) GIP was lower in patients with UCD (p = 0.008), c) amylin was remarkably reduced (p b 0.01) in all patients with CD, d) AG was significantly decreased in patients with DCD (p b 0.01), while e) leptin, PP and PYY were not significantly different. GIP, GLP-1 and amylin levels correlated positively with insulin concentrations (p b 0.001, p = 0.004 and p b 0.01, respectively) in all patients. Amylin and GIP levels were strongly associated with triglyceride concentrations (p b 0.001, for both peptides) in children with CD. Conclusions: Our study revealed a different secretion pattern of gut–brain axis hormones in children with CD compared to HC. The alterations in the axis were more pronounced in children with both CD and T1DM.
doi:10.1016/j.clinbiochem.2014.04.064
Cod: 038 LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls S.W. Park Department of Pediatrics, Cheil General Hospital, College of Medicine, Kwandong University, Seoul, Republic of Korea Purpose: Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with precocious puberty (PP) or early puberty (EP). This study aimed to determine the frequency of putative genetic markers in girls with PP or EP. Methods: Genomic DNAs were obtained from 77 to 109 girls that fulfilled the criteria for PP and EP, respectively. The controls in this study were 144 healthy volunteers between 20 and 30 years of age. The haplotypes were reconstructed using 11 SNPs of LIN28B, and haplotype association analysis was performed. The haplotype frequencies were compared. Differences in the clinical and laboratory parameters were analyzed according to the haplotype dosage. Results: Eleven SNPs in LIN28B were all located in a block that was in linkage disequilibrium. The haplotype could be reconstructed using 2 representative SNPs, rs4946651 and rs369065. The AC haplotype was less frequently observed in the PP group than in the controls (0.069 vs. 0.144, P = 0.010). The trend that girls with nonAC haplotypes tended to have earlier puberty onset (P = 0.037) was illustrated even in the EP + PP patient group by Kaplan–Meier analysis. Conclusion: The results of the present study showed that nonAC haplotypes of LIN28B had a significant association with PP in girls.
Keywords: Human LIN28 homolog B, Precocious puberty, Singlenucleotide polymorphism doi:10.1016/j.clinbiochem.2014.04.065
Cod: 039 Mean platelet volume (MPV), platelet distribution width (PDW), platelet count and plateletocrit (PCT) as predictors of in-hospital pediatric mortality Z.M. Golwalab, N. Guptab, H. Shahb, V. Sreenivasa, J. Puliyelb a Department of Biostatistics, All India Institute of Medical Sciences, Delhi, India b St Stephens Hospital, Delhi, India Background: Thrombocytopenia has been shown to predict mortality. We hypothesize that platelet indices may be a more useful prognostic indicator. Our study subjects were children. Aim: Use a case control model to examine if platelet count, plateletocrit (PCT), mean platelet volume (MPV) and platelet distribution width (PDW) and their ratios can predict mortality. Material and methods: Children admitted to the hospital who died during hospital stay were the cases studied. Controls were aged matched children admitted contemporaneously. The first blood sample after admission was used for analysis. Results: 40 cases and 40 controls were studied. Platelet count, PCT and the ratios of MPV/platelet count, MPV/PCT, PDW/platelet count, PDW/PCT and MPV × PDW/platelet count × PCT were significantly different among children who survived compared to those who died. On multiple regression analysis the ratio of MPV/PCT was an independent risk factor for mortality with an odds ratio of 4.31 (95% CI, 1.69–10.99). In 67% of the patients who died MPV/PCT ratio was above 41.8. Conclusion: The MPV/PCT in the first sample after admission in this case control study was an independent predictor of mortality and could predict 67% of deaths accurately. More studies in a prospective cohort are needed to confirm the findings. doi:10.1016/j.clinbiochem.2014.04.066
Cod: 040 First study of polymorphic marker MP6D9 in cystic fibrosis Tunisian patients C. Sahli, S. Hadj Fredj, A. Bibi, T. Messaoud Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, Tunis, Tunisia Since the identification of the gene responsible for cystic fibrosis (CF), over 1900 mutations are described. This large molecular heterogeneity can explain in part the significant clinical variability of the disease which may be due to environmental or genetic factors. With the development of molecular biology techniques, more and more genetic markers can be tested to study the clinical variability of cystic fibrosis. In this work, we are interested to study the involvement of extragenic polymorphic marker MP6D9 on the clinical expression in a CF Tunisian population. Our study involved 60 CF Tunisian patients aged between three days and 12 years. A cohort of 45 healthy controls was also enrolled. The analysis of the polymorphic marker MP6D9 was performed by PCR-RFLP. A statistical analysis was performed on Statistical Package for the Social Sciences (SPSS) version 20 software. The distribution of MP6D-9 genotypes and alleles was significantly different between CF and healthy subjects (p b 0.005). We
Abstracts
However the gut–brain axis peptide hormone secretion has not been evaluated so far in CD patients prior to treatment initiation or under treatment, irrespective of patients having concomitant T1DM or not. The aim of the study was therefore to evaluate these gut hormones at the pre-prandial levels of CD patients before and under treatment. Methods: Forty-seven CD children: 12 untreated (UCD), 22 treated with gluten-free-diet (TCD) and 13 treated CD with co-existing T1DM (DCD) and 18 healthy controls (HC) were enrolled. Pre-prandial glucagon-like-peptide-1 (GLP-1), glucose-dependent-insulinotropicpolypeptide (GIP), active-amylin, acylated-ghrelin (AG), leptin, pancreatic-polypeptide (PP) and peptide-tyrosine-tyrosine (PYY) were determined with hormone-map-array technology. Results: We found in CD patients compared to HC that the concentration of: a) GLP-1 was reduced remarkably in all patients with CD (p = 0.008), b) GIP was lower in patients with UCD (p = 0.008), c) amylin was remarkably reduced (p b 0.01) in all patients with CD, d) AG was significantly decreased in patients with DCD (p b 0.01), while e) leptin, PP and PYY were not significantly different. GIP, GLP-1 and amylin levels correlated positively with insulin concentrations (p b 0.001, p = 0.004 and p b 0.01, respectively) in all patients. Amylin and GIP levels were strongly associated with triglyceride concentrations (p b 0.001, for both peptides) in children with CD. Conclusions: Our study revealed a different secretion pattern of gut–brain axis hormones in children with CD compared to HC. The alterations in the axis were more pronounced in children with both CD and T1DM.
doi:10.1016/j.clinbiochem.2014.04.064
Cod: 038 LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls S.W. Park Department of Pediatrics, Cheil General Hospital, College of Medicine, Kwandong University, Seoul, Republic of Korea Purpose: Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with precocious puberty (PP) or early puberty (EP). This study aimed to determine the frequency of putative genetic markers in girls with PP or EP. Methods: Genomic DNAs were obtained from 77 to 109 girls that fulfilled the criteria for PP and EP, respectively. The controls in this study were 144 healthy volunteers between 20 and 30 years of age. The haplotypes were reconstructed using 11 SNPs of LIN28B, and haplotype association analysis was performed. The haplotype frequencies were compared. Differences in the clinical and laboratory parameters were analyzed according to the haplotype dosage. Results: Eleven SNPs in LIN28B were all located in a block that was in linkage disequilibrium. The haplotype could be reconstructed using 2 representative SNPs, rs4946651 and rs369065. The AC haplotype was less frequently observed in the PP group than in the controls (0.069 vs. 0.144, P = 0.010). The trend that girls with nonAC haplotypes tended to have earlier puberty onset (P = 0.037) was illustrated even in the EP + PP patient group by Kaplan–Meier analysis. Conclusion: The results of the present study showed that nonAC haplotypes of LIN28B had a significant association with PP in girls.
Keywords: Human LIN28 homolog B, Precocious puberty, Singlenucleotide polymorphism doi:10.1016/j.clinbiochem.2014.04.065
Cod: 039 Mean platelet volume (MPV), platelet distribution width (PDW), platelet count and plateletocrit (PCT) as predictors of in-hospital pediatric mortality Z.M. Golwalab, N. Guptab, H. Shahb, V. Sreenivasa, J. Puliyelb a Department of Biostatistics, All India Institute of Medical Sciences, Delhi, India b St Stephens Hospital, Delhi, India Background: Thrombocytopenia has been shown to predict mortality. We hypothesize that platelet indices may be a more useful prognostic indicator. Our study subjects were children. Aim: Use a case control model to examine if platelet count, plateletocrit (PCT), mean platelet volume (MPV) and platelet distribution width (PDW) and their ratios can predict mortality. Material and methods: Children admitted to the hospital who died during hospital stay were the cases studied. Controls were aged matched children admitted contemporaneously. The first blood sample after admission was used for analysis. Results: 40 cases and 40 controls were studied. Platelet count, PCT and the ratios of MPV/platelet count, MPV/PCT, PDW/platelet count, PDW/PCT and MPV × PDW/platelet count × PCT were significantly different among children who survived compared to those who died. On multiple regression analysis the ratio of MPV/PCT was an independent risk factor for mortality with an odds ratio of 4.31 (95% CI, 1.69–10.99). In 67% of the patients who died MPV/PCT ratio was above 41.8. Conclusion: The MPV/PCT in the first sample after admission in this case control study was an independent predictor of mortality and could predict 67% of deaths accurately. More studies in a prospective cohort are needed to confirm the findings. doi:10.1016/j.clinbiochem.2014.04.066
Cod: 040 First study of polymorphic marker MP6D9 in cystic fibrosis Tunisian patients C. Sahli, S. Hadj Fredj, A. Bibi, T. Messaoud Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, Tunis, Tunisia Since the identification of the gene responsible for cystic fibrosis (CF), over 1900 mutations are described. This large molecular heterogeneity can explain in part the significant clinical variability of the disease which may be due to environmental or genetic factors. With the development of molecular biology techniques, more and more genetic markers can be tested to study the clinical variability of cystic fibrosis. In this work, we are interested to study the involvement of extragenic polymorphic marker MP6D9 on the clinical expression in a CF Tunisian population. Our study involved 60 CF Tunisian patients aged between three days and 12 years. A cohort of 45 healthy controls was also enrolled. The analysis of the polymorphic marker MP6D9 was performed by PCR-RFLP. A statistical analysis was performed on Statistical Package for the Social Sciences (SPSS) version 20 software. The distribution of MP6D-9 genotypes and alleles was significantly different between CF and healthy subjects (p b 0.005). We