The TT genotype of methylenetetrahydrofolate reductase 677C>T polymorphism increases the susceptibility to pediatric ischemic stroke: meta-analysis of the 822 cases and 1,552 controls

The 677C>T polymorphism within methylenetetrahydrofolate reductase (MTHFR) gene is related to an elevated level of homocysteine. Thus it may be considered as a genetic risk factor in ischemic stroke. Apparently studies of this type of polymorphism in childhood stroke have shown conflicting results. We performed meta-analysis of all the data that are available in relation with MTHFR polymorphism and the risk of ischemic stroke in children. We searched PubMed (last search dated December 2010) using “MTHFR polymorphism”, “ischemic stroke” “child”, “children”, “pediatric stroke” as keywords and reference lists of studies and reviews on the topic. Finally, 15 case–control studies corresponded to the inclusion criteria for meta-analysis. These studies involved the total number of 822 children and adolescents after ischemic stroke and 1,552 control subjects. Fixed or random effects models were used depending on the heterogeneity between the studies. The association between ischemic stroke and 677C>T polymorphism within MTHFR gene was observed in three of the studies. The pooled analysis showed that TT genotype of MTHFR gene is more common in stroke patients than in controls (p = 0.0402, odds ratio = 1.57, 95 % confidence interval 1.02–2.41). The Egger’s test did not reveal presence of a publication bias. The results based on a sizeable group of cases and controls have proved that the 677C>T polymorphism in MTHFR gene is associated with the development of ischemic stroke in children

On the Use of Variance per Genotype as a Tool to Identify Quantitative Trait Interaction Effects: A Report from the Women's Genome Health Study

Testing for genetic effects on mean values of a quantitative trait has been a very successful strategy. However, most studies to date have not explored genetic effects on the variance of quantitative traits as a relevant consequence of genetic variation. In this report, we demonstrate that, under plausible scenarios of genetic interaction, the variance of a quantitative trait is expected to differ among the three possible genotypes of a biallelic SNP. Leveraging this observation with Levene's test of equality of variance, we propose a novel method to prioritize SNPs for subsequent gene–gene and gene–environment testing. This method has the advantageous characteristic that the interacting covariate need not be known or measured for a SNP to be prioritized. Using simulations, we show that this method has increased power over exhaustive search under certain conditions. We further investigate the utility of variance per genotype by examining data from the Women's Genome Health Study. Using this dataset, we identify new interactions between the LEPR SNP rs12753193 and body mass index in the prediction of C-reactive protein levels, between the ICAM1 SNP rs1799969 and smoking in the prediction of soluble ICAM-1 levels, and between the PNPLA3 SNP rs738409 and body mass index in the prediction of soluble ICAM-1 levels. These results demonstrate the utility of our approach and provide novel genetic insight into the relationship among obesity, smoking, and inflammation

Polymorphisms of −174G>C and −572G>C in the Interleukin 6 (IL-6) Gene and Coronary Heart Disease Risk: A Meta-Analysis of 27 Research Studies

OBJECTIVE: Elevated serum IL-6 level is a risk factor for coronary heart disease (CHD). The -174 G>C and -572 G>C polymorphisms in the IL-6 gene have previously been shown to modulate IL-6 levels. But the association between the -174 G>C and -572 G>C polymorphisms and the risk of CHD is still unclear. A meta-analysis of all eligible studies was carried out to clarify the role of IL-6 gene polymorphisms in CHD. METHODS AND RESULTS: PubMed, EMBASE, Vip, CNKI and CBM-disc were searched for eligible articles in English and Chinese that were published before October 2010. 27 studies involving 11580 patients with CHD and 17103 controls were included. A meta-analysis was performed for the included articles using the RevMan 5.0 and Stata 10.0 softwares. Overall, the -174 C allele was not significantly associated with CHD risk (ORs = 1.04, 95%CI = 0.98 to 1.10) when compared with the -174 G allele in the additive model, and meta-analysis under other genetic models (dominant, recessive, CC versus GG, and GC versus GG) also did not reveal any significant association. On the contrary, the -572 C allele was associated with a decreased risk of CHD when compared with the -572 G allele (ORs = 0.79, 95%CI = 0.68 to 0.93). Furthermore, analyses under the recessive model (ORs = 0.69, 95% = 0.59 to 0.80) and the allele contrast model (genotype of CC versus GG, ORs = 0.49, 95% = 0.35 to 0.70) yielded similar results. However, statistical significance was not found when the meta-analysis was restricted to studies focusing on European populations, studies with large sample size, and cohort studies by using subgroup analysis. CONCLUSIONS: The -174 G>C polymorphism in the IL-6 gene is not significantly associated with increased risks of CHD. However, The -572 G>C polymorphism may contribute to CHD development. Future investigations with better study design and large number of subjects are needed

Poststroke epilepsy: current perspectives on diagnosis and treatment

Beata Sarecka-Hujar,1 Ilona Kopyta2 1Department of Pharmaceutical Technology, School of Pharmacy with the Division of Laboratory Medicine in Sosnowiec, Medical University of Silesia in Katowice, Sosnowiec, Poland; 2Department of Paediatric Neurology, School of Medicine in Katowice, Medical University of Silesia in Katowice, Katowice, Poland Abstract: Seizures and epilepsy are quite a common outcome of arterial ischemic stroke (AIS) both in pediatric and adult patients, with distinctly higher occurrence in children. These poststroke consequences affect patients’ lives, often causing disability. Poststroke seizure (PSS) may also increase mortality in patients with AIS. Early PSS (EPSS) occurring up to 7 days after AIS, late PSS (LPSS) occurring up to 2 years after the onset of AIS, as well as poststroke epilepsy (PSE) can be distinguished. However, the exact definition and cutoff point for PSE should be determined. A wide range of risk factors for seizures and epilepsy after AIS are still being detected and analyzed. More accurate knowledge on risk factors for PSS and PSE as well as possible prediction of epileptic seizures after the onset of AIS may have an impact on improving the prevention and treatment of PSE. The aim of the present review was to discuss current perspectives on diagnosis and treatment of PSS and PSE, both in adult and paediatric patients. Keywords: arterial ischemic stroke, early seizures, late seizures, antiepileptic treatmen

Innovative technologies in medicine and pharmacy

Zastosowanie nowoczesnych technologii w medycynie i farmacji pozwala na coraz szybszą i skuteczniejszą diagnostykę oraz terapię wielu chorób. Do innowacyjnych należy np. drukowanie narządów, tkanek i tabletek w technologii 3D (w 2015 roku FDA zaaprobowała pierwszą drukowaną tabletkę zawierającą levetiracetam). Wyspecjalizowane roboty chirurgiczne są wykorzystywane w zabiegach chirurgicznych na odległość. Dzięki eliminowaniu drżenia rąk, ich użycie stanowi przyszłość w chirurgii i będzie coraz powszechniejsze. W poniższej pracy omówiono wykorzystanie potencjału druku 3D w medycynie i farmacji oraz zastosowania robotyki do wykonywania zabiegów chirurgicznych. Przedstawione zostały również przykłady innowacyjnych wynalazków, które mogą być stosowane podczas operacji chirurgicznych oraz w leczeniu bólu i gojeniu się ran.The use of modern technologies in medicine and pharmacy results in more rapid and effective diagnosis and treatment of many diseases. The 3D printing method is one of the innovative solutions that may be implemented for preparing organs, tissues, and solid drugs (in 2015 the FDA approved the first tablet containing levetiracetam, produced by 3DP). Specialized surgical robots are used for remote surgery. They eliminate hand tremor and their use is more and more popular. The following paper discusses the potential use of 3D printing method in medicine and pharmacy, and the application of robotics to perform surgical procedures. We also demonstrated examples of innovative devices, which can be used for surgical operations and in the treatment of pain and wound healing

The role of ectoine in formation of protective water structures around the biomolecules

Ektoina jest iminokwasem wyizolowanym z ekstremofilnych, halofilnych, fototroficznych bakterii purpurowych. Ektoina wykazuje działanie ochronne w stosunku do różnych biomolekuł, może gromadzić się w komórkach w wysokich stężeniach i zabezpieczać je przed stresem środowiskowym np. temperaturowym lub osmotycznym. W warunkach fizjologicznych ektoina występuje w postaci jonu obojnaczego, wykazuje znaczne powinowactwo do cząsteczek wody. Zdolność ektoiny do wiązania cząsteczek wody skutkuje większą gęstością utworzonej trwałej sieci zorientowanych cząsteczek wody wokół biopolimerów, w tym enzymów oraz błon biologicznych. Celem pracy było omówienie budowy i właściwości ektoiny, ze szczególnym uwzględnieniem jej roli w tworzeniu struktur wodnych o charakterze ochronnym.Ectoine is an imino acid, isolated from extremophilic, halophilic, phototrophic purple bacteria. Ectoine shows a protective effect against various biomolecules. It can accumulate in cells at high concentrations and protect cell-important molecules against different stressors, e.g. temperature or osmosis. Under physiological conditions, ectoine occurs in the form of a zwitterion, and has also a significant affinity to water molecules. The ability of the ectoine to bind water molecules results in a higher density of the established stable network of oriented water molecules around biopolymers, including enzymes and biological membranes. The aim of the paper is show the structure and properties of ectoine, with emphasis on its role in the formation of water structures with significant protective importance

Epilepsy in paediatric patients with schizencephaly

Introduction. Schizencephaly is one of the rare congenital defects of the central nervous system (CNS), known as neuronal migration disorders. The etiology of schizencecephaly is unequivocal. Established etiologies include in-utero infections (cytomegalovirus and herpes simplex virus, HSV type I), toxic abuse (cocaine, alcohol), as well as drug use (warfarin). Objectives. The aim of the study was to analyze the clinical presentation of schizencephaly with particular consideration of the course of epilepsy in paediatric patients. Materials and method. The study group consisted of 38 children with schizencephaly (20 of them had seizure) and was retrospectively assessed. Data were analyzed using SAS version 9.4. U Mann-Whitney and χ2 tests and logistic regression analysis were used in statistical analyses. Results. Epilepsy was the most frequent in bilateral type II schizencephaly (p=0.033). In logistic regression analysis, the presence of bilateral open schizencephaly significantly increased the risk of seizures (OR=11.67; 95%CI 2.44–55.83; p=0.002). Drug-resistant epilepsy was observed in 9 children (45% of the children with epilepsy). Prevalence of both epilepsy and drug-resistant epilepsy in schizencephaly did not significantly depend on gender, stage of development, type or localization of schizencephaly, and other coexisting CNS defects or clinical presentation of schizencephaly at follow-up in the study group of patients. Conclusions. The bilateral type of schizencephaly was identified as an independent risk factor for epilepsy in the analyzed children