Role of ZIP14 (SLC39A14) gene histidine rich regions in neural tube defects

Neural tube defects (NTDs) comprise a group of congenital malformations that includes spina bifida, anencephaly, meningomyelocele and encephalocele. Reports have implicated zinc deficiency as one of the causative factors of NTDs. Both environmental and genetic factors are involved in the etiology of NTDs. Inadequate folate intake and nutritional deficiency are important environmental risk factors. The aim of this study was to determine the relation of a zinc related gene ZRT and IRT like protein 14 (ZIP14) and neural tube defects in Turkish patients. The case control study included seventy Turkish mothers who gave birth to NTD infants. Two hundred and thirty-nine healthy controls were consecutively selected without any congenital defects or familial NTD history. Following DNA extraction, PCR, SSCP and DNA sequencing analysis of exons of the ZIP14 gene were performed. Our data revealed that no relation of neural tube defects and ZIP14 was detected in Turkish NTD patients. Zinc deficiency have been reported as a risk factor for Turkish population and other possible zinc related gene defects may have importance.Keywords: Neural tube defects (NTDs); Zinc; ZIP1

Three-dimensional media for mobile devices

Cataloged from PDF version of article.This paper aims at providing an overview of the core technologies enabling the delivery of 3-D Media to next-generation mobile devices. To succeed in the design of the corresponding system, a profound knowledge about the human visual system and the visual cues that form the perception of depth, combined with understanding of the user requirements for designing user experience for mobile 3-D media, are required. These aspects are addressed first and related with the critical parts of the generic system within a novel user-centered research framework. Next-generation mobile devices are characterized through their portable 3-D displays, as those are considered critical for enabling a genuine 3-D experience on mobiles. Quality of 3-D content is emphasized as the most important factor for the adoption of the new technology. Quality is characterized through the most typical, 3-D-specific visual artifacts on portable 3-D displays and through subjective tests addressing the acceptance and satisfaction of different 3-D video representation, coding, and transmission methods. An emphasis is put on 3-D video broadcast over digital video broadcasting-handheld (DVB-H) in order to illustrate the importance of the joint source-channel optimization of 3-D video for its efficient compression and robust transmission over error-prone channels. The comparative results obtained identify the best coding and transmission approaches and enlighten the interaction between video quality and depth perception along with the influence of the context of media use. Finally, the paper speculates on the role and place of 3-D multimedia mobile devices in the future internet continuum involving the users in cocreation and refining of rich 3-D media content

Thrombotic gene polymorphisms and postoperative outcome after coronary artery bypass graft surgery

<p>Abstract</p> <p>Background</p> <p>Emerging perioperative genomics may influence the direction of risk assessment and surgical strategies in cardiac surgery. The aim of this study was to investigate whether single nucleotide polymorphisms (SNP) affect the clinical presentation and predispose to increased risk for postoperative adverse events in patients undergoing coronary artery bypass grafting surgery (CABG).</p> <p>Methods</p> <p>A total of 220 patients undergoing first-time CABG between January 2005 and May 2008 were screened for factor V gene G1691A (FVL), prothrombin/factor II G20210A (PT G20210A), angiotensin I-converting enzyme insertion/deletion (ACE-ins/del) polymorphisms by PCR and Real Time PCR. End points were defined as death, myocardial infarction, stroke, postoperative bleeding, respiratory and renal insufficiency and event-free survival. Patients were compared to assess for any independent association between genotypes for thrombosis and postoperative phenotypes.</p> <p>Results</p> <p>Among 220 patients, the prevalence of the heterozygous FVL mutation was 10.9% (n = 24), and 3.6% (n = 8) were heterozygous carriers of the PT G20210A mutation. Genotype distribution of ACE-ins/del was 16.6%, 51.9%, and 31.5% in genotypes I/I, I/D, and D/D, respectively. FVL and PT G20210A mutations were associated with higher prevalence of totally occluded coronary arteries (p < 0.001). Furthermore the risk of left ventricular aneurysm formation was significantly higher in FVL heterozygote group compared to FVL G1691G (<it>p </it>= 0.002). ACE D/D genotype was associated with hypertension (<it>p </it>= 0.004), peripheral vascular disease (p = 0.006), and previous myocardial infarction (<it>p </it>= 0.007).</p> <p>Conclusions</p> <p>FVL and PT G20210A genotypes had a higher prevalence of totally occluded vessels potentially as a result of atherothrombotic events. However, none of the genotypes investigated were independently associated with mortality.</p

Comparing and improving hybrid deep learning algorithms for identifying and locating primary vertices

Using deep neural networks to identify and locate proton-proton collision points, or primary vertices, in LHCb has been studied for several years. Preliminary results demonstrated the ability for a hybrid deep learning algorithm to achieve similar or better physics performances compared to standard heuristic approaches. The previously studied architectures relied directly on hand-calculated Kernel Density Estimators (KDEs) as input features. Calculating these KDEs was slow, making use of the DNN inference engines in the experiment's real-time analysis (trigger) system problematic. Here we present recent results from a high-performance hybrid deep learning algorithm that uses track parameters as input features rather than KDEs, opening the path to deployment in the real-time trigger system.Comment: Proceedings for the ACAT 2022 conferenc

A Survey of Quality of Service Differentiation Mechanisms for Optical Burst Switching Networks

Cataloged from PDF version of article.This paper presents an overview of Quality of Service (QoS) differentiation mechanisms proposed for Optical Burst Switching (OBS) networks. OBS has been proposed to couple the benefits of both circuit and packet switching for the ‘‘on demand’’ use of capacity in the future optical Internet. In such a case, QoS support imposes some important challenges before this technology is deployed. This paper takes a broader view on QoS, including QoS differentiation not only at the burst but also at the transport levels for OBS networks. A classification of existing QoS differentiation mechanisms for OBS is given and their efficiency and complexity are comparatively discussed. We provide numerical examples on how QoS differentiation with respect to burst loss rate and transport layer throughput can be achieved in OBS networks. © 2009 Elsevier B.V. All rights reserved

Apoptotic Vascular Smooth Muscle Cell Depletion via BCL2 Family of Proteins in Human Ascending Aortic Aneurysm and Dissection

Cataloged from PDF version of article.Aims: This study investigates the expression patterns of BCL2 (B-cell CLL/lymphoma2) family of proteins and the extent of vascular smooth muscle cell (VSMC) apoptosis in thoracic aortic aneurysms (TAA), type-A aortic dissections (TAD), and nondilated ascending aortic samples. Methods: Aortic wall specimens were obtained from patients undergoing surgical repair for TAA (n = 24), TAD (n = 20), and normal aortic tissues from organ donors (n = 6). The expression pattern of BCL2, BCL2L1 (BCL2-like1), BAK1 (BCL2-antagonist/killer1), and BAX (BCL2-associated X protein) proteins was investigated by immunohistochemistry. Furthermore, colocalization of alpha smooth muscle actin (ACTA2) and caspase3 (CASP3) in aortic VSMCs was analyzed by double-immunofluorescence staining. Onset of DNA fragmentation was measured by TUNEL assay. Results: Apoptotic index was significantly increased in both TAD group (31.3 ± 17.2, P < 0.001) and TAA group (21.1 ± 12.7, P = 0.001) relative to control aortas (2.0 ± 1.2). Anti-CASP3 and ACTA2 double-immunostaining confirmed apoptosis in VSMCs in TAA and TAD groups but not in controls. Proapoptotic BAX expression was significantly elevated in VSMCs of TAA patients, compared with that of controls (OR = 20; P = 0.02; 95% CI, 16-250). In contrast, antiapoptotic BCL2L1 expression was higher in controls compared with that of TAA group (OR = 11.2; P = 0.049; 95% CI, 1.0-123.9). Furthermore, BAX/BCL2 ratio was significantly increased in both TAA (1.2 ± 0.7, P < 0.001) and TAD (0.6 ± 0.4, P = 0.05) groups relative to controls (0.2 ± 0.1, P < 0.001). Conclusions: Apoptotic VSMC depletion in human TAA/TAD is associated with disturbance of the balance between proapoptotic and antiapoptotic members of the BCL2 family proteins, which may have a role in the pathogenesis of vascular remodelling in aortic disease. In light of the future studies, targeting apoptotic pathways in TAA and TAD pathogenesis may provide therapeutic benefits to patients by slowing down the progression and even possibly preventing the TAD. © 2012 Blackwell Publishing Ltd

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

Financial support provided by The Medical Research Council-MR/K000292/1, Children with Cancer- 2013/144 and Blood Wise-14032 (AJW, LC, SC, AE, TV, HT and ID). KMG is supported by the National Institute for Health Research through the NIHR Southampton Biomedical Research Centre

A survey of quality of service differentiation mechanisms for optical burst switching networks

This paper presents an overview of Quality of Service (QoS) differentiation mechanisms proposed for Optical Burst Switching (OBS) networks. OBS has been proposed to couple the benefits of both circuit and packet switching for the "on demand" use of capacity in the future optical Internet. In such a case, QoS support imposes some important challenges before this technology is deployed. This paper takes a broader view on QoS, including QoS differentiation not only at the burst but also at the transport levels for OBS networks. A classification of existing QoS differentiation mechanisms for OBS is given and their efficiency and complexity are comparatively discussed. We provide numerical examples on how QoS differentiation with respect to burst loss rate and transport layer throughput can be achieved in OBS networks. © 2009 Elsevier B.V. All rights reserved

Measurement of Branching Fractions and Rate Asymmetries in the Rare Decays B -> K(*) l+ l-

In a sample of 471 million BB events collected with the BABAR detector at the PEP-II e+e- collider we study the rare decays B -> K(*) l+ l-, where l+ l- is either e+e- or mu+mu-. We report results on partial branching fractions and isospin asymmetries in seven bins of di-lepton mass-squared. We further present CP and lepton-flavor asymmetries for di-lepton masses below and above the J/psi resonance. We find no evidence for CP or lepton-flavor violation. The partial branching fractions and isospin asymmetries are consistent with the Standard Model predictions and with results from other experiments.Comment: 16 pages, 14 figures, accepted by Phys. Rev.