Significance of Maternal Serum Folate and Vitamin B12 levels with Factor V leiden, Factor II g.20210G>A, MTHFR C667T and MTHFR A1298C variations in Anencephaly

Amaç Multifaktöryel anensefali etyolojisi halen tam olarak bilinmeyen durumlardan biridir. Etiyolojinin daha iyi anlaşılması için bilinen faktörler olan Folat ve vitamin B12 düzeyleri yanı sıra Faktör V Leiden, Faktör II g.20210G>A, MTHFR c.667C>T and MTHFR c.1298A>C polimorfizmlerini anensefalili gebeliği olan ve sağlıklı gebeliği olan annelerde inceleyerek karşılaştırmayı amaçladık. Materyal ve Metot Çalışmamızda 10 anensefalili gebeliği olan anne ve 32 sağlıklı gebede serum folat ve B12 vitamin düzeyleri yanı sıra Real-Time PCR ile Faktör V Leiden, Faktör II G20210A, MTHFR C667T ve MTHFR A1298C polimorfizmlerinin genotipleri incelenerek karşılaştırıldı. Sonuç Çalışmamızda serum folat düzeyi ve MTHFR A1298C genotipi açısından gruplar arasında anlamlı fark saptandı. Serum B12 vitamin düzeyi, FVL, FII G20210A ve MTHFR C667T varyasyonları anensefalili gebe ve kontrollerin karşılaştırmasında anlamlı farklılık olmadığı belirlendi. Tartışma Anensefali ve nöral tüp defekti gelişiminde anne folat düzeylerinin düşük olması bilinen bir faktördür. MTHFR gen polimorfizmleri ile ilişkili çalışmalar da bulunmaktadır. Biz de çalışmamızda folat eksikliğinin etiyolojide önemli rol oynadığını; ancak diğer faktörlerin anlamlı fark yaratmadığını belirledik. Ayrıca, anensefali için daha fazla araştırmaya gerek olduğu kanaatindeyiz.Aim Exact etiology of multifactorial anencephaly is still unclear. For a better understanding of the etiology, we sought to determine serum levels of folate and vitamin B12 as well as genetic variations including Factor V Leiden, Factor II g.20210G>A, MTHFR c.667C>T and MTHFR c.1298A>C in pregnant Turkish women with fetal anencephaly, and healthy pregnant women to point out significant differences. Material-Methods We compared the concentration of serum folate, vitamin B12 and genotype related with Factor V Leiden (FVL), Factor II (FII) G20210A, MTHFR C667T and MTHFR A1298C variations in 10 pregnant mothers with fetal anencephaly, and 32 mothers with healthy pregnancies. Gene polymorphisms were genotyped using Real-Time PCR. Results We found a significant difference in serum folate concentrations and MTHFR A1298C genotypes between groups. However, serum B12 vitamin concentrations and Factor V Leiden, Factor II G20210A, and MTHFR C667T genotypes were not significantly different in mothers with fetal anencephaly, compared to controls. Conclusion Low maternal folate level is a known factor in the development of anencephaly and neural tube defects. Studies indicating an association with MTHFR gene polymorphisms are also present. We have determined that the lack of folic acid plays an important role in the etiology of anencephaly, however other factors are not significant. We believe that more research is needed as the etiology of anencephaly is still not fully understood

The real-life efficacy of the second line treatment strategy in advanced pancreas cancer

ABS TRACT Objective: Pancreatic cancer is one of the leading causes of cancer-related death. Despite the introduction of new therapeutic agents, survival rates remain low. Furthermore, few trials have evaluated the options for second-line therapy and the prognostic variables. In this study, we aimed to determine the real-world efficacy and prognostic parameters of second-line treatment for advanced pancreatic cancer. Material and Methods: Patients with advanced pancreatic cancer from different centers who received second-line treatment were enrolled in the study. The patients’ demographic, clinical, and pathological characteristics were retrieved retrospectively. Results: A total of 161 patients were enrolled in the study. The majority of the patients (50.3%) received oxaliplatin plus fluoropyrimidine as second-line treatment. The median progression-free survival and overall survival for the entire cohort were 2.5 months and 4.5 months, respectively. In univariate anal-yses, an Eastern Cooperative Oncology Group performance status ≥2, age ≥65 years, hypoalbuminemia, thrombocytosis, presence of metastatic peritoneal disease, elevated alkaline phosphatase and carcinoembryonic antigen levels, and a neutrophil-lymphocyte ratio (NLR) ≥3 were identified as poor prognostic factors. In multivariable analyses, low albumin level (p=0.031) and high NLR (p=0.05) were found to be independent prognostic factors for overall survival. Conclusion: Pancreatic cancer is a unique malignancy, and advanced disease has a dismal prog-nosis. In univariate analyses, we identified multiple factors that were poor prognostic variables. In particular, the albumin level and NLR were independent prognostic factors for overall survival, and these parameters might be useful in selecting the second-line treatment and pre-dicting the survival of these patients

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Henoch-Schonlein purpura: A case with involvement of the penis and scrotum

Henoch-Schönlein purpurası (HSP), artrit / artralji, gastrointestinal ve genitoüriner sistem tutulumunun eşlik ettiği non- trombositopenik purpura ile karakterize, çocukluk çağının en sık görülen vaskülitidir. Genitoüriner sistem tutulumu olan olgularda hem skrotum hem de penis etkilenmesi oldukça nadirdir. Bu yazıda, tipik deri bulguları, eklem bulguları, skrotum ve penis tutulumu olan üç buçuk yaşındaki bir erkek olgu sunulmak istenmiştir. Hastada prednizolon ve ibuprofen tedavisi ile dört günde tamamen iyileşme sağlanmıştır. Sonuç olarak, penis ve skrotum tutulumu gösteren HSP olgularında, tartışmalı olmakla birlikte, ibuprofen ve steroid tedavisi uygulanabilir.Henoch-Schönlein purpura (HSP), characterized by non-thrombocytopenic purpura accompanied by arthritis / arthralgia, gastrointestinal and genitourinary system involvement is the most common vasculitis in childhood. In case of genitourinary system involvement, the involvement of both the scrotum and the penis is very rare. In this report, a 3.5 year-old boy with typical skin symptoms, joint symptoms, scrotum and penis involvement is presented. In this patient, prednisolon and ibuprofen treatment has resulted in the resolution of the symptoms in four days. In conclusion, ibuprofen and steroid treatment could be administered in HSP children with penile and scrotum involvement although controversial

Nanofabrication and plasma polymerization assisted surface modification of a transducer based on localized surface plasmon resonance of gold nanostructure arrays for biosensor applications

WOS: 000315205200001The nanofabrication and surface modification of a transducer based on localized surface plasmon resonance (LSPR) of gold nanostructure arrays for biosensing was studied. We used electron beam lithography for the nanopatterning technique, which let us choose LSPR sensor properties by providing immense control over nanostructural geometry. A critical step in the utilization of this transducer is to form a selective biolayer over the gold nanostructures. We applied plasma polymerization and wet chemistry techniques for ethylenediamine (EDA) modification and glutaraldehyde immobilization as intermediate layers, respectively. The gold nanostructure arrays were primarily modified using EDA in order to activate the surface with amine groups that are cross-linked with later added avidin molecules by the help of glutaraldhyde layer residing in between. The success of plasma polymerization was validated with x-ray photoelectron spectroscopy measurements. As a last step, we introduced biotin to the surface (biotin has a high affinity for avidin). We were able to detect the LSPR resonance wavelength shift in the transmission spectra at each step of modification, including the avidin-biotin interaction, which acts as a model for specific molecule detection using LSPR. (C) 2012 Society of Photo-Optical Instrumentation Engineers (SPIE). [DOI: 10.1117/1.JNP.6.061602]DPT-HAMIT; ESF-EPIGRAT; EU-N4E; NATO-SET-181; TUBITAK [107A004, 107A012, 109E301]; Turkish Academy of SciencesThis work is supported by the projects DPT-HAMIT, ESF-EPIGRAT, EU-N4E, NATO-SET-181, and TUBITAK under Project Nos., 107A004, 107A012, 109E301. One of the authors (E.O.) also acknowledges partial support from the Turkish Academy of Sciences. All of the authors have made significant contributions to this study. Mr. Adil Burak Turhan worked on nanofabrication and performed optical measurements. Mr. Yasin Sen, Ms. Demet Ataman, and Mr. Adil Burak Turhan did the plasma polymerization process. Ms. Demet Ataman worked on wet chemistry, made XPS measurements and evaluated results. Mr. Adil Burak Turhan and Ms. Demet Ataman wrote the manuscript. Study was supervised and directed by Professor Mehmet Mutlu and Professor Ekmel zbay

A Case of Late Diagnosis with Rubinstein-Taybi Syndrome

Rubinstein-Taybi Sendromu (RSTS) karakteristik yüz bulgulari, kisa boy, orta-ağir entelektüel yetersizlik, geniş el ve ayak başparmaklari ile seyreden nadir bir genetik hastaliktir. Hastalarin yaşamlarinin ilk yillarinda karşilaştiklari problemlere doğru ve daha çözümcül yaklaşilabilmesi için taninin erken konulabilmesi oldukça önemlidir. Bu yazida geç tanili RSTS'li bir olgu sunulmaktadir.Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder, characterized by distinctive facial features, short stature, moderate to severe intellectual disability, and broad thumbs and first toes. It is important to establish an early diagnosis for these patients in order to ascertain accurate solutions for the problems they face in the early stages of life. In this report, we present a case with a late diagnosis of RSTS

Reproducibility of rCBV in glioblastomas using T2*-weighted perfusion MRI: an evaluation of sampling, normalization, and experience

PURPOSEThe reproducibility of relative cerebral blood volume (rCBV) measurements among readers with different levels of experience is a concern. This study aimed to investigate the inter-reader reproducibility of rCBV measurement of glioblastomas using the hotspot method in dynamic susceptibility contrast perfusion magnetic resonance imaging (DSC–MRI) with various strategies.METHODSIn this institutional review board-approved single-center study, 30 patients with glioblastoma were retrospectively evaluated with DSC–MRI at a 3.0 Tesla scanner. Three groups of reviewers, including neuroradiologists, general radiologists, and radiology residents, calculated the rCBV based on the number of regions of interest (ROIs) and reference areas. For statistical analysis of feature reproducibility, the intraclass correlation coefficient (ICC) and Bland–Altman plots were used. Analyses were made among individuals, reader groups, reader-group pooling, and a population that contained all of them.RESULTSFor individuals, the highest inter-reader reproducibility was observed between neuroradiologists [ICC: 0.527; 95% confidence interval (CI): 0.21–0.74] and between residents (ICC: 0.513; 95% CI: 0.20–0.73). There was poor reproducibility in the analyses of individuals with different levels of experience (ICC range: 0.296–0.335) and in reader-wise and group-wise pooling (ICC range: 0.296–0.335 and 0.397–0.427, respectively). However, an increase in ICC values was observed when five ROIs were used. In an analysis of all strategies, the ICC for the centrum semiovale was significantly higher than that for contralateral white matter (P < 0.001).CONCLUSIONThe inter-reader reproducibility of rCBV measurement was poor to moderate regardless of whether it was calculated by neuroradiologists, general radiologists, or residents, which may indicate the need for automated methods. Choosing five ROIs and using the centrum semiovale as a reference area may increase reliability for all users

Comparison of GnRH agonist and antagonist protocols in stage III-IV endometriosis patients who underwent endometrioma resection surgery

29th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE) -- JUL 07-10, 2013 -- London, ENGLAND[No Abstract Available]European Soc Human Reprod & Embryol (ESHRE