Volume 24 (2016): Issue 4 (December 2016)

Background: MiRNA-30c was a tumor suppressor in several human cancers, however, its association with clinicopathological features and prognosis in colorectal cancer (CRC) is unclear.

Materials and Methods: The expression level of miRNA-30c in 192 pairs of colorectal cancer and adjacent normal tissues was detected by Quantitative RT-PCR, the association between miRNA-30c expression and clinical characteristics and prognosis were statistically analyzed.

Results: miRNA-30c was significantly lower in CRC tissues specimens compared with matched normal adjacent tissue (P<0.001). MiRNA-30c was positively correlated with tumor size (P=0.012), TMN stage (P=0.002) and lymph node metastasis (P=0.004). The univariate analysis showed CRC patients with low miRNA-30c had distinctly shorter overall survival (P<0.001) than patients with high miRNA-30c expression level. The multivariate analysis was performed and informed that low miRNA-30c expression (P<0.001) might be an independent prognostic predictor for poor prognosis.

Conclusion: miRNA-30c could predict the prognosis of colorectal cancer which is helpful to choose reasonable treatment measures.

Aim: The present study aim to analyze the relationship between GST M/T genotypes of glutathione S-transferases and cervical intraepithelial neoplasia.

Materials and Methods: A prospective case-control study has been designed including 69 cases with different degrees of cervical dysplasia and 107 controls. All patients had been examined colposcopically. For every patient both cervical and blood specimen have been obtained. The peripheral blood was used for GST M/T genotyping. The statistical analysis was performed using OR and chi-square at a level of significance inferior to 0.05.

Results: No statistically significant differences had been found between cases and controls for GST T-/M- geno-type (T-/M-, χ²=0.03, p= 0.8610) and T+/M+ χ²=0.65, p = 0.4197. Patients with in situ carcinoma had significant GST genotype association for T-/M+ genotype (OR=4.66, CI 95% [0.6528,24.9725], χ²=4.6, p=0.0314) and for T+/M- genotype (OR=0.12, CI 95% [0.0027,0.9465], χ²=0.05, p=0.0219).

Conclusion: The combination of GST genotypes can be included in a predictive score for patients with cervical carcinoma.

Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical and paraclinical particularities of 3 Romanian ARCI patients with NIPAL4 mutation c.527C>A.

Material and methods: Three Caucasian patients were investigated, two sisters and an unrelated female patient, aged 47, 49, and 42 respectively. Skin anomalies were recorded and documented photographically; peripheral blood samples were harvested for DNA extraction and gene analysis. Skin biopsies were used for histological assessment, electron microscopy, and evaluation of in situ transglutaminase 1 activity.

Results: All patients presented with generalized ichthyosis, palmoplantar keratoderma, normal hair shafts, and significant oral manifestations. Natural evolution was relatively stable in all cases, without phenotype changing. Medical treatment with retinoids in patients 1 and 2 resulted in normalisation of the skin condition.

Histological samples showed hyperkeratosis, acanthosisand perivascular inflammatory infiltrates in the dermis. Positive findings of transglutaminase 1 in situ activity excluded TGM1 deficiency. Direct sequencing of amplicons revealed one homozygous mutation in exon 4, a c.527C>A missense mutation.

Conclusions: This is the first report of the hotspot mutation NIPAL4 c.527C>A in Romanian autosomal recessive congenital ichthyosis patients. The phenotype was similar to that reported in the literature, while transglutaminase 1 activity in situ assay detected differences in enzyme distribution between patients bearing the same mutation but different phenotypes. Based on the current data, NIPAL4 mutations are more frequent than TGM1 mutations in Romanian patients with autosomal recessive congenital ichthyosis.

Background: Apelin is a potent endogenous inotropic peptide with a major role in counteracting the aldosterone and angiotensin II and their negative effects on the cardiovascular system. The exact role of apelin in the patho-physiology of this disease is not well understood. We aimed to investigate the possible associations of apelin-13 with clinical and paraclinical characteristics in HF patients as well as studying its dynamics during the course of the heart failure.

Method: We performed a prospective observational cohort single-center study. We compared the baseline serum levels of apelin-13 and NT-proBNP level in 53 heart failure patients (acute heart failure, chronic compensated heart failure and chronic decompensated heart failure). We divided the patients according to the apelin-13 level: above and below the median, and we analyzed the relationship between serum apelin-13 and the clinical, echocardiographic, electrocardiographic and biological parameters. Twenty patients were followed-up (after an average time interval of 9 months), investigating the same parameters.

Results: The median of apelin-13 was 495pg/mL (IQR 276-845pg/mL). We found strong, negative correlation between the serum levels of apelin-13 and NT-proBNP (Spearman rho= −0.83, p<0.001). For the reassessed patients the median apelin level was significantly higher at follow-up (460 pg/mL, IQR 342-871 pg/mL) as compared with the baseline level (395 pg/mL, IQR 270-603 pg/mL), p=0.019, and maintained the negative correlation with NT-proBNP level (Spearman’s rho −0.7, p<0.001. The Low Apelin-13 group have higher NT-proBNP levels and also contains all the patients in NYHA IV class heart failure, 71% of the acute HF patients, and 7 of 8 patients who died before follow-up.

Conclusion: Apelin-13 was negatively correlated with NT-proBNP. The Low Apelin-13 group contained the majority of the patients with a negative outcome (death before follow-up), most of the patients who presented with acute HF and all the patients in NYHA IV class.

Cassia mimosoides Linn has been used from ancient times and used for treating hepatitis for its supposedly medically beneficial properties. In this study, different constituents of the Cassia mimosoides Linn (β-Sitosterol, Oleanolic Acid, Emodin, Carotene, Resorcinol, Luteolin, and α-L-Rhamnose) were evaluated for potential anti-HMG-CoA reductase effect. The inhibitory effects of HMG-CoA reductase of Cassia mimosoides Linn extracts and Pravastatin inhibitor at different concentrations (at doses of 1, 5, 25 or 125 μg/mL, respectively) in reaction system (70 mmol/L phosphate buffer, 200mmol/L NADPH, 5 μg HMG-CoA reductase, 2 mmol/L EDTA, 2 mmol/L cysteamine, 0.06% BSA) into 37°C preheat HMG-CoA for initiating this reaction, and then determined the change of HMG-CoA reductase activity (ΔAΔt) at 340 nm, the inhibition ratio of HMG-CoA reductase activity and its dynamic change of inhibitory effect within 15 min and the descent rate of NADPH. Emodin, Luteolin, β-Sitosterol, Oleanolic Acid, α-L-Rhamnose and Carotene showed good inhibition of HMG-CoA reductase activity. Among them, only the Emodin (1 and 5 μg/mL) groups showed a significant decrease of HMG-CoA reductase activity compared to the Pravastatin (1 and 5 μg/mL) groups respectively. In addition, the HMG-CoA reductase activity in the Emodin and Luteolin (25 and 125 μg/mL) groups was clearly lower than the Pravastatin (25 and 125 μg/mL) groups respectively. And the Emodin and Luteolin (1, 5, 25 or 125 μg/mL) groups exhibited a stable effect on inhibiting the HMG-CoA reductase within 15 min. These findings further support the exploration of Cassia mimosoides Linn as a potential agent for the treatment of hepatitis in future studies.

Type 2 diabetes (T2D) is a chronic disorder with different genetics and environmental factors. It is one of growing diseases in the world. Previous studies show association between Transcription Factor 7 Like2 (TCF7L2) and T2D. The current study set to evaluate the relation between TCF7L2 polymorphisms and T2D in Southeast Iran. The present case-control study was done on 250 T2D and 250 healthy controls (HCs). For genotyping polymorphisms TCF7L2 (rs11196205) and (rs4132670) Amplification-Refractory Mutation System-Polymers Chain Reaction (ARMS-PCR) was used. The results showed frequency rates of GC and CC genotypes increased in patients compared to controls (31% vs. 6% and 55% vs. 8%, respectively), showing a statistically significant difference (OR=2.67(1.37-5.21), P<0.05 and OR=3.31(1.92-5.71), P< 0.05, respectively). The C allele was associated with an increased risk of T2D, with the frequency of 28% and 11% in patients and controls, respectively (OR=3.11 (2.22-4.37), P< 0.05). Another Polymorphism of this gene TCF7L2 (rs4132670) was not associated with T2D. Furthermore, the haplotype analysis revealed that rs11196205C/rs4132670C and rs11196205C/rs4132670T are risk factors against T2D (OR=2.08 (1.49-2.86, P<0.05 and OR=1.72 (1.06-2.78) P<0.05, respectively). The findings demonstrated that TCF7L2 (rs11196205) genotypes GC, CC, and allele (C) confer risk for susceptibility to T2D.

This parameter’s results accuracy has a special importance in the management of diabetic patients since targets for optimal glycemic control are established using HbA1c values. Several error sources can influence the obtained value, some of them can be counteracted (ex. pipetting errors, storage), and others should be taken into consideration at the interpretation of the result (ex. presence of hemoglobin variants). The aim of this study was to compare four chromatographic methods regarding the costs and the influence of certain error sources on the accuracy of the result. Materials and methods: Samples and controls were analyzed using Variant I, Micromat II and In2it (Bio-Rad) systems, and the BIOMIDI reagent kit for HbA1c measurement. Results: Positive correlation could be observed comparing the results obtained using different methods, except the patients presenting elevated HbF. Pipetting errors modify the results up to 5% in case of Variant I, and up to 10% in case of Micromat II in the tested range. One day of improper storage at room temperature causes 3% deviation from the actual value using the Variant I analyzer and 5% in case of Micromat II and In2it equipment. As a conclusion, depending on the number of samples, automated chromatographic analyzers are the most appropriate equipments for the determination of HbA1c.