DISC1 genetics, biology and psychiatric illness

Psychiatric disorders are highly heritable, and in many individuals likely arise from the combined effects of genes and the environment. A substantial body of evidence points towards DISC1 being one of the genes that influence risk of schizophrenia, bipolar disorder and depression, and functional studies of DISC1 consequently have the potential to reveal much about the pathways that lead to major mental illness. Here, we review the evidence that DISC1 influences disease risk through effects upon multiple critical pathways in the developing and adult brain

Sorption of platinum on immobilized microorganisms for its on-line preconcentration and chemiluminescent determination in water samples

Fungi of the type Aspergillus sp. were immobilized on a cellulosic resin and used as a biosorbent for the on-line preconcentration and separation of Pt(IV) ions prior to their chemiluminescent determination via flow injection analysis. Biosorption and elution conditions were optimized, and the results compared to biosorbents based on the use of Chlorella vulgaris algae and Saccharomyces cerevisiae yeast in terms of preconcentration and selective retention of Pt(IV). The immobilized fungi presented here have a high potential for use in platinum biosorption. The procedure exhibits the currently lowest limit of detection (0.02 ng mL−1 of Pt) and very high selectivity. The procedure was applied to the determination of Pt(IV) in river water, road run-off, and wastewater samples

Three-Dimensional Regulation of Radial Glial Functions by Lis1-Nde1 and Dystrophin Glycoprotein Complexes

Lis1-Nde1 integrates cerebral cortical neurogenesis with neuronal migration by stabilizing the basal-lateral surface of radial glial cells

Technical aspects and clinical limitations of sperm DNA fragmentation testing in male infertility: a global survey, current guidelines, and expert recommendations.

PURPOSE: Sperm DNA fragmentation (SDF) is a functional sperm abnormality that can impact reproductive potential, for which four assays have been described in the recently published sixth edition of the WHO laboratory manual for the examination and processing of human semen. The purpose of this study was to examine the global practices related to the use of SDF assays and investigate the barriers and limitations that clinicians face in incorporating these tests into their practice. MATERIALS AND METHODS: Clinicians managing male infertility were invited to complete an online survey on practices related to SDF diagnostic and treatment approaches. Their responses related to the technical aspects of SDF testing, current professional society guidelines, and the literature were used to generate expert recommendations via the Delphi method. Finally, challenges related to SDF that the clinicians encounter in their daily practice were captured. RESULTS: The survey was completed by 436 reproductive clinicians. Overall, terminal deoxynucleotidyl transferase deoxyuridine triphosphate Nick-End Labeling (TUNEL) is the most commonly used assay chosen by 28.6%, followed by the sperm chromatin structure assay (24.1%), and the sperm chromatin dispersion (19.1%). The choice of the assay was largely influenced by availability (70% of respondents). A threshold of 30% was the most selected cut-off value for elevated SDF by 33.7% of clinicians. Of respondents, 53.6% recommend SDF testing after 3 to 5 days of abstinence. Although 75.3% believe SDF testing can provide an explanation for many unknown causes of infertility, the main limiting factors selected by respondents are a lack of professional society guideline recommendations (62.7%) and an absence of globally accepted references for SDF interpretation (50.3%). CONCLUSIONS: This study represents the largest global survey on the technical aspects of SDF testing as well as the barriers encountered by clinicians. Unified global recommendations regarding clinician implementation and standard laboratory interpretation of SDF testing are crucial

Controversy and consensus on the management of elevated sperm DNA fragmentation in male infertility: a global survey, current guidelines, and expert recommendations

PURPOSE: Sperm DNA fragmentation (SDF) has been associated with male infertility and poor outcomes of assisted reproductive technology (ART). The purpose of this study was to investigate global practices related to the management of elevated SDF in infertile men, summarize the relevant professional society recommendations, and provide expert recommendations for managing this condition. MATERIALS AND METHODS: An online global survey on clinical practices related to SDF was disseminated to reproductive clinicians, according to the CHERRIES checklist criteria. Management protocols for various conditions associated with SDF were captured and compared to the relevant recommendations in professional society guidelines and the appropriate available evidence. Expert recommendations and consensus on the management of infertile men with elevated SDF were then formulated and adapted using the Delphi method. RESULTS: A total of 436 experts from 55 different countries submitted responses. As an initial approach, 79.1% of reproductive experts recommend lifestyle modifications for infertile men with elevated SDF, and 76.9% prescribe empiric antioxidants. Regarding antioxidant duration, 39.3% recommend 4-6 months and 38.1% recommend 3 months. For men with unexplained or idiopathic infertility, and couples experiencing recurrent miscarriages associated with elevated SDF, most respondents refer to ART 6 months after failure of conservative and empiric medical management. Infertile men with clinical varicocele, normal conventional semen parameters, and elevated SDF are offered varicocele repair immediately after diagnosis by 31.4%, and after failure of antioxidants and conservative measures by 40.9%. Sperm selection techniques and testicular sperm extraction are also management options for couples undergoing ART. For most questions, heterogenous practices were demonstrated. CONCLUSIONS: This paper presents the results of a large global survey on the management of infertile men with elevated SDF and reveals a lack of consensus among clinicians. Furthermore, it demonstrates the scarcity of professional society guidelines in this regard and attempts to highlight the relevant evidence. Expert recommendations are proposed to help guide clinicians

Controversy and consensus on indications for sperm DNA fragmentation testing in male infertility: a global survey, current guidelines, and expert recommendations.

PURPOSE: Sperm DNA fragmentation (SDF) testing was recently added to the sixth edition of the World Health Organization laboratory manual for the examination and processing of human semen. Many conditions and risk factors have been associated with elevated SDF; therefore, it is important to identify the population of infertile men who might benefit from this test. The purpose of this study was to investigate global practices related to indications for SDF testing, compare the relevant professional society guideline recommendations, and provide expert recommendations. MATERIALS AND METHODS: Clinicians managing male infertility were invited to take part in a global online survey on SDF clinical practices. This was conducted following the CHERRIES checklist criteria. The responses were compared to professional society guideline recommendations related to SDF and the appropriate available evidence. Expert recommendations on indications for SDF testing were then formulated, and the Delphi method was used to reach consensus. RESULTS: The survey was completed by 436 experts from 55 countries. Almost 75% of respondents test for SDF in all or some men with unexplained or idiopathic infertility, 39% order it routinely in the work-up of recurrent pregnancy loss (RPL), and 62.2% investigate SDF in smokers. While 47% of reproductive urologists test SDF to support the decision for varicocele repair surgery when conventional semen parameters are normal, significantly fewer general urologists (23%; p=0.008) do the same. Nearly 70% would assess SDF before assisted reproductive technologies (ART), either always or for certain conditions. Recurrent ART failure is a common indication for SDF testing. Very few society recommendations were found regarding SDF testing. CONCLUSIONS: This article presents the largest global survey on the indications for SDF testing in infertile men, and demonstrates diverse practices. Furthermore, it highlights the paucity of professional society guideline recommendations. Expert recommendations are proposed to help guide clinicians

Male Oxidative Stress Infertility (MOSI):proposed terminology and clinical practice guidelines for management of idiopathic male infertility

Despite advances in the field of male reproductive health, idiopathic male infertility, in which a man has altered semen characteristics without an identifiable cause and there is no female factor infertility, remains a challenging condition to diagnose and manage. Increasing evidence suggests that oxidative stress (OS) plays an independent role in the etiology of male infertility, with 30% to 80% of infertile men having elevated seminal reactive oxygen species levels. OS can negatively affect fertility via a number of pathways, including interference with capacitation and possible damage to sperm membrane and DNA, which may impair the sperm's potential to fertilize an egg and develop into a healthy embryo. Adequate evaluation of male reproductive potential should therefore include an assessment of sperm OS. We propose the term Male Oxidative Stress Infertility, or MOSI, as a novel descriptor for infertile men with abnormal semen characteristics and OS, including many patients who were previously classified as having idiopathic male infertility. Oxidation-reduction potential (ORP) can be a useful clinical biomarker for the classification of MOSI, as it takes into account the levels of both oxidants and reductants (antioxidants). Current treatment protocols for OS, including the use of antioxidants, are not evidence-based and have the potential for complications and increased healthcare-related expenditures. Utilizing an easy, reproducible, and cost-effective test to measure ORP may provide a more targeted, reliable approach for administering antioxidant therapy while minimizing the risk of antioxidant overdose. With the increasing awareness and understanding of MOSI as a distinct male infertility diagnosis, future research endeavors can facilitate the development of evidence-based treatments that target its underlying cause

Fast and simple procedure for fractionation of zinc in soil using an ultrasound probe and FAAS detection. Validation of the analytical method and evaluation of the uncertainty budget

A new fast method for determination of mobile zinc fractions in soil is proposed in this work. The three-stage modified BCR procedure used for fractionation of zinc in soil was accelerated by using ultrasounds. The working parameters of an ultrasound probe, a power and a time of sonication, were optimized in order to acquire the content of analyte in soil extracts obtained by ultrasound-assisted sequential extraction (USE) consistent with that obtained by conventional modified Community Bureau of Reference (BCR) procedure. The content of zinc in extracts was determined by flame atomic absorption spectrometry. The developed USE procedure allowed for shortening the total extraction time from 48 h to 27 min in comparison to conventional modified BCR procedure. The method was fully validated, and the uncertainty budget was evaluated. The trueness and reproducibility of the developed method was confirmed by analysis of certified reference material of lake sediment BCR-701. The applicability of the procedure for fast, low costs and reliable determination of mobile zinc fraction in soil, which may be useful for assessing of anthropogenic impacts on natural resources and environmental monitoring purposes, was proved by analysis of different types of soil collected from Podlaskie Province (Poland). ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s10661-015-5020-6) contains supplementary material, which is available to authorized users

Evaluation of syringe-connected minicolumn technique for preconcentration of some trace elements using chromosorb-103 and determination by flame atomic absorption spectrometry

A syringe-connected minicolumn (SCM) technique has been developed for preconcentration and enrichment of cobalt, iron, and lead in river-water samples prior to their determination by flame atomic absorption spectrometry (FAAS). The proposed technique is substituted for the classical batch and column techniques all of which are off-line methods. The method proposed was compared with the column technique with respect to easiness, rapidness, simplicity and some analytic performances such as recovery, precision, accuracy and risk of contamination. The minicolumn was filled with Chromosorb-103 as a sorbent. In order to retain the analyte elements, the sample solution was drawn into the syringe and discharged back passing through the sorbent in the minicolumn. The analyte elements were quantitatively retained at pH greater than or equal to4 if they were complexed with ammonium pyrrolidine dithiocarbamate (APDC) prior to passing through to the sorbent. The analytes sorbed on the minicolumn was then eluted with 1.0 mol L-1 HNO3 in acetone again drawing and discharging the eluent. Optimum flow rates of sample or eluent for sorption and elution procedure were 20 mL min(-1) for both drawing and discharging cases. The proposed technique was successfully applied to the determination of analytes in certified reference material and spiked river-water samples. The recoveries of analytes from certified reference material (Bovine liver) and river-water samples were quantitative and reproducible (>96%, with relative standard deviation (RSD) of 1-5%). The developed technique is simple, fast, and accurate. Detection limits (3sigma) were 4.8 mug L-1 for Co, 14 mug L-1 for Fe, and 15 mug L-1 for Pb. Very high preconcentration factors up to 200-fold could be achieved

Online solid phase preconcentration using EGDMA-MAA copolymer for lead determination by FAAS

A Ethylene glycol dimethacrylate (EGDMA) methacrylic acid (MAA) resin was used for preconcentration of lead at trace levels in water samples. For this purpose, a flow-injection, solid phase extraction method was developed for the determination of lead by flame atomic absorption spectrometry. Lead ions were sorbed on a EGDMA-MAA column at pH 4, followed by an elution step using 288?L of 4.0 M nitric acid solution and determination by flame atomic absorption spectrometry. Optimum conditions for quantitative sorption involving the pH, sample volume, loading and elution flow rates, eluent type, and volume were investigated. A 868-fold enrichment factor could be reached. The detection limit for the water samples, estimated from the noise on the signal obtained for 250 mL of 10?gL-1 loaded at 4.9mL min-1 was 1.04?g L-1. The method was applied for lead determination in river water samples collected in Edirne, Turkey. Recoveries of spike solutions (10 ?gL-1) to river water samples were quantitative. Finally, the method was validated by the analysis of certified reference material SRM 2704 (Buffalo River Sediment). © 2009 Taylor & Francis.Trakya Üniversitesi: TUBAP-835The authors are grateful for the financial support of the Unit of the Scientific Research of Trakya University (TUBAP-835)