INTRODUCTION: Leptin is an adipokine which has a direct relationship to obesity. Our aim was to measure this hormone in pregnant women at three months intervals throughout their pregnancies to determine the serum value of those who developed preeclampsia. MATERIAL AND METHODS: We followed 19 women (median age 24.8 +/- 5.7 years) with pre-gestational Body Mass Index (BMI) less than 25 kg/m2, 21 (median age 26.1 +/- 4.6 years) with BMI higher than 25 kg/m2 and 16 (median age 30.9 +/- 5.8 years) with Gestational Diabetes Mellitus (GDM) (median age 30.9 +/- 5.8 years), recruited in the 1st trimester of pregnancy. Serum levels of leptin were measured with radioimmunoassay (RIA) technique. RESULTS: In the first trimester of pregnancy leptin levels showed statistically significant differences between normal weight and overweight-obese women (p < 0.001), diabetic women (p < 0.05) and the subgroup of preeclamptic women (p < 0.001). For those women with PGBMI > or = 40 kg/m2 and leptin > or = 40 ng/ml in the second trimester, the Odds Ratio (OR) to develop preeclampsia was of 47.95% CI (4.1-527.2). Analyzing leptin values with ROC curves, the greatest area under the curve (AUC) was for leptin in the second trimester (0.773, CI: 0.634-0.911). CONCLUSION: Women with morbid obesity (BMI > or = 40 kg/m2) had significantly higher levels of serum leptin (p < 0.01) and a value of 40 ng/ml of this hormone seems to be predictive of developing preeclampsia in this group of patients. and H. Mendieta Zerón, VJ. García Solorio, PM. Nava Díaz, A. Garduño Alanís, JG. Santillán Benítez, V. Domínguez García, C. Escobar Briones, E. Denova Gutiérrez
Dideoxynucleotide DNA sequencing is one of the principal procedures in molecular biology. Loss of an initial part of nucleotides behind the 3' end of the sequencing primer limits the readability of sequenced amplicons. We present a method which extends the readability by using sequencing primers modified by polyadenylated tails attached to their 5' ends. Performing a polymerase chain reaction, we amplified eight amplicons of six human genes (AMELX, APOE, HFE, MBL2, SERPINA1 and TGFB1) ranging from 106 bp to 680 bp. Polyadenylation of the sequencing primers minimized the loss of bases in all amplicons. Complete sequences of shorter products (AMELX 106 bp, SERPINA1 121 bp, HFE 208 bp, APOE 244 bp, MBL2 317 bp) were obtained. In addition, in the case of TGFB1 products (366 bp, 432 bp, and 680 bp, respectively), the lengths of sequencing readings were significantly longer if adenylated primers were used. Thus, single strand dideoxynucleotide sequencing with adenylated primers enables complete or near complete readability of short PCR amplicons. and M. Beránek, M. Drastíková, J. Petera
The colorectal cancer ranks high among the malignant tumours in incidence and mortality and irinotecan is standardly used in palliative treatment of metastatic disease in every therapeutic line. Unfortunately, the treatment with irinotecan is often associated with severe toxicities, especially neutropenia and diarrhea. The majority of the toxic manifestation is caused by the insufficient deactivation (glucuronidation) of irinotecan active metabolite SN-38 by UGT1A enzyme. The elevated SN-38 plasma concentration is responsible for the hematological and gastrointestinal toxicity that can become life-threatening. The patients carrying the mutation of the gene encoding UGT1A enzyme lack the ability of bilirubin glucuronidation, and suffer from the inherited un-conjugated hyperbilirubinemia (Gilbert syndrome, Crigler-Najjar type 1 and 2 syndrome). The mutations in other enzyme systems also play role in the etiopathogenesis of the irinotecan toxicity: CYP3A (cytochrome P-450), ABC family of transmembrane transporters (adenosine-triphosphate binding cassette). The goal of the contemporary research is to determine the predictive factors that will enable the individual adjustment of the individual drug dosage while minimising the adverse effects and maintaining the treatment benefit. and A. Paulík, J. Grim, S. Filip
BACKGROUND: The presence of several risk factors (genetic and non-genetic) has greater impact on the risk of premature coronary artery disease (CAD) than single risk factor. OBJECTIVE: The aim of the study was to establish possible relations between genotypes and alleles of 677C>T polymorphism of MTHFR gene and some traditional risk factors e.g. elevated levels of lipid parameters and smoking in development of premature CAD. METHODS: The groups comprised 152 patients with angiographically documented premature CAD (aged 42.9 +/- 5.5) and 121 age-matched blood donors (aged 42.3 +/- 6.5) were studied. The MTHFR 677C>T polymorphism was genotyped with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. RESULTS: Patients with TT genotype who simultaneously smoked had increased risk of premature CAD compared to non-smoking cases with CC genotype (OR = 24.62). We also found that individuals with TT genotype and elevated LDL-cholesterol (LDL-chol.) level had significantly higher risk of CAD (OR = 9.92) than individuals with normal LDL-chol. level and CC genotype. CONCLUSIONS: The present study shows that simultaneous presence of MTHFR TT genotype and smoking or elevated levels of LDL-chol. influences the risk of premature CAD. This findings give interesting contribution to gene-environment interaction problem that may have clinical implications in the future. and B. Sarecka-Hujar, I. Zak, J. Krauze