Primary prevention of neural tube defects: data from the portuguese national registry of congenital anomalies (RENAC)

Background: In Portugal folic acid supplementation is recommended to start at least 2-3 months before conception for primary prevention of Neural Tube Defects. The aim of this study was to evaluate, within gestations with at least one congenital anomaly, possible association between maternal socio-demographic factors and the use of folic acid. Methods: Using data from the Portuguese national registry of congenital anomalies, for the 2004-2013 period, the association between folic acid use during pregnancy and maternal characteristics was studied using the chi-square test. Results: Considering all reported cases with congenital anomaly, the use of folic acid before conception was reported by 12.7% (n = 1233) of the women; 47.8% (n = 4623) started supplementation during the 1st trimester, 7% (n = 680) did not take folic acid and 32.5% (3143) of the records had no information on folic acid use. Women with professions that require higher academic differentiation started the use of supplements before pregnancy (p <0.001); women under 19 years old and with Arab ethnicity (p <0.001) did not take folic acid. Mothers with a previous pregnancy reported less use of folic acid (11.5% versus 14.7%) than mothers without a previous pregnancy (p <0.001). Conclusions: The results suggest some degree of association between maternal characteristics and use of folic acid. To increase the consumption of folic acid before pregnancy new measures are need to promote this primary prevention, among couples and health professionals. This study highlights some maternal characteristics and subgroups of mothers for who the measures should be reinforced.

Two novel COLVI long chains in zebrafish that are essential for muscle development

Collagen VI (COLVI), a protein ubiquitously expressed in connective tissues, is crucial for structural integrity, cellular adhesion, migration and survival. Six different genes are recognized in mammalians, encoding six COLVI-chains that assemble as two ‘short’ (α1, α2) and one ‘long’ chain (theoretically any one of α3–6). In humans, defects in the most widely expressed heterotrimer (α123), due to mutations in the COL6A1-3 genes, cause a heterogeneous group of neuromuscular disorders, collectively termed COLVI-related muscle disorders. Little is known about the function(s) of the recently described α4-6 chains and no mutations have been detected yet. In this study, we characterized two novel COLVI long chains in zebrafish that are most homologous to the mammalian α4 chain; therefore, we named the corresponding genes col6a4a and col6a4b. These orthologues represent ancestors of the mammalian Col6a4-6 genes. By in situ hybridization and RT-qPCR, we unveiled a distinctive expression kinetics for col6a4b, compared with the other col6a genes. Using morpholino antisense oligonucleotides targeting col6a4a, col6a4b and col6a2, we modelled partial and complete COLVI deficiency, respectively. All morphant embryos presented altered muscle structure and impaired motility. While apoptosis was not drastically increased, autophagy induction was defective in all morphants. Furthermore, motoneuron axon growth was abnormal in these morphants. Importantly, some phenotypical differences emerged between col6a4a and col6a4b morphants, suggesting only partial functional redundancy. Overall, our results further confirm the importance of COLVI in zebrafish muscle development and may provide important clues for potential human phenotypes associated with deficiency of the recently described COLVI-chains.

Birth defects in South Carolina

Birth defects are a leading cause of infant mortality. Additionally, babies born with birth defects who survive infancy have a greater chance of illness and long term disability than babies without birth defects. The causes can involve genetic (such as chromosomal anomalies) or environmental (such as lead exposure during pregnancy) factors, or a combination of these factors. However, in about 70 percent of cases of birth defects, the causes are unknown. The South Carolina Birth Defects Program began in July 2006 after passage of the S.C. Birth Defects Act. This law mandates active surveillance of major structural birth defects identified prenatally through age two. South Carolina monitors over 50 birth defects recommended by the Centers for Disease Control and Prevention, National Birth Defects Prevention Network.

Proliferative Defects and Formation of a Double Cortex in Mice Lacking Mltt4 and Cdh2 in the Dorsal Telencephalon

Radial glial cells (RGCs) in the ventricular neuroepithelium of the dorsal telencephalon are the progenitor cells for neocortical projection neurons and astrocytes. Here we showthatthe adherens junction proteins afadin and CDH2 are criticalforthe control of cell proliferation in the dorsal telencephalon and for the formation of its normal laminar structure. Inactivation of afadin or CDH2 in the dorsal telenceph-alon leads to a phenotype resembling subcortical band heterotopia, also known as “double cortex,” a brain malformation in which heterotopic gray matter is interposed between zones of white matter. Adherens junctions between RGCs are disrupted in the mutants, progenitor cells are widely dispersed throughout the developing neocortex, and their proliferation is dramatically increased. Major subtypes of neocortical projection neurons are generated, but their integration into cell layers is disrupted. Our findings suggest that defects in adherens junctions components in mice massively affects progenitor cell proliferation and leads to a double cortex-like phenotype.

Light losses in hollow, prismatic light guides related to prim defects: a transmittance model

Hollow, cylindrical, prismatic light guides (CPLGs) are optical components that, using total internal reflection (TIR), are able to transmit high-diameter light beams in daylight and artificial lighting applications without relevant losses. It is necessary to study the prism defects of their surfaces to quantify the behavior of these optical components. In this Letter, we analyze a CPLG made of a transparent dielectric material. Scanning electron microscopy (SEM) and the topographic optical profilometry by absorption in fluids (TOPAF) imaging technique are conducted to determine if there are defects in the corners of the prisms. A model for light guide transmittance that is dependent on prism defects is proposed. Finally, a simulation and an experimental study are carried out to check the validity of the proposed model.

Transcatheter Closure of Atrial Septal Defects in a Center With Limited Resources: Outcomes and Short Term Follow-Up

Background: Transcatheter closure of atrial septal defects (ASD) has been accepted world-wide as an alternative to surgical closure with excellent results. This interventional, non-surgical technique plays an important role in the treatment of ASD mostly in the developing world where resources are limited. Objectives: To report the outcomes and short term follow-up of transcatheter closure of ASD over a 12-year period at our institution with limited resources. Patients and Methods: This retrospective study included all patients with the diagnosis of secundum ASD and significant shunting (Qp/Qs > 1.5:1) as well as dilated right atrium and right ventricle who had transcatheter closure at Integrated Cardiovascular Center (PJT), Dr. Cipto Mangunkusumo Hospital between October 2002 and October 2014. One hundred fifty-two patients enrolled in this study were candidates for device closure. Right and left heart cardiac catheterization was performed before the procedure. All patients underwent physical examination, ECG, chest X-ray and transthoracal echocardiography (TTE) prior to device implantation. Results: A total of 152 patients with significant ASD underwent device implantation. Subjects’ age ranged from 0.63 to 69.6 years, with median 9.36 years and mean 16.30 years. They consisted of 33 (21.7%) males and 119 (78.3%) females, with mean body weight of 29.9 kg (range 8 to 75; SD 18.2). The device was successfully implanted in 150 patients where the majority of cases received the Amplatzer septal occluder (147/150; 98%) and the others received the Heart Lifetech ASD occluder (3/150, 2%), whereas two other cases were not suitable for device closure and we decided for surgical closure. The mean ASD size was 19.75 (range 14 - 25) mm. During the procedure, 5 (4.9%) patients had bradycardia and 3 (2.9%) patients had supraventricular tachycardia (SVT), all of which resolved. Conclusions: In our center with limited facilities and manpower, transcatheter closure of atrial septal defect was effective and safe as an alternative treatment to surgery. The outcome and short-term follow-up revealed excellent results, but long-term follow-up is needed.

Reporting usability defects-do reporters report what software developers need?

Reporting usability defects can be a challenging task, especially in convincing the software developers that the reported defect actually requires attention. Stronger evidence in the form of specific details is often needed. However, research to date in software defect reporting has not investigated the value of capturing different information based on defect type. We surveyed practitioners in both open source communities and industrial software organizations about their usability defect reporting practices to better understand information needs to address usability defect reporting issues. Our analysis of 147 responses show that reporters often provide observed result, expected result and steps to reproduce when describing usability defects, similar to the way other types of defects are reported. However, reporters rarely provide usability-related information. In fact, reporters ranked cause of the problem is the most difficult information to provide followed by usability principle, video recoding, UI event trace and title. Conversely, software developers consider cause of the problem as the most helpful information for them to fix usability defects. Our statistical analysis reveals a substantial gap between what reporters provide and what software developers need when fixing usability defects. We propose some remedies to resolve this gap.

Reporting usability defects: limitations of open source defect repositories and suggestions for improvement

Capturing good quality defect reports is critical for ensuring quick resolution of defects. While a range of studies into defect reporting exists, to date, very few focused on usability defect reporting issues can be found. To better understand issues specific to usability defect reporting, we carried out a survey of 56 contributors to the Mozilla and Google Chromium software projects spanning both usability defect reporters and developers. We discovered a range of limitations and key issues in current usability defect reporting tools and approaches identified as important by reporters and developers. In addition, we highlight opportunities to improve defect-reporting tools based on these open source communities' needs.

Quantum emission from defects in single-crystalline hexagonal boron nitride

Bulk hexagonal boron nitride (hBN) is a highly nonlinear natural hyperbolic material that attracts major attention in modern nanophotonics applications. However, studies of its optical properties in the visible part of the spectrum and quantum emitters hosted by bulk hBN have not been reported to date. In this work, we study the emission properties of hBN crystals in the red spectral range using sub-band-gap optical excitation. Quantum emission from defects is observed at room temperature and characterized in detail. Our results advance the use of hBN in quantum nanophotonics technologies and enhance our fundamental understanding of its optical properties.

Syndromic scalp defects : genotype-phenotype studies in Johanson-Blizzard syndrome and Adams-Oliver syndrome

Otto-von-Guericke-Universität Magdeburg, Fakultät für Naturwissenschaften, Dissertation, 2016

Investigation of bonded hydrogen defects in nanocrystalline diamond films grown with nitrogen/methane/hydrogen plasma at high power conditions

In this work, we investigate the influence of some growth parameters such as high microwave power ranging from 3.0 to 4.0 kW and N2 additive on the incorporation of bonded hydrogen defects in nanocrystalline diamond (NCD) films grown through a small amount of pure N2 addition into conventional 4% CH4/H2 plasma using a 5 kW microwave plasma CVD system. Incorporation form and content of hydrogen point defects in the NCD films produced with pure N2 addition was analyzed by employing Fourier-transform infrared (FTIR) spectroscopy for the first time. A large amount of hydrogen related defects was detected in all the produced NCD films with N2 additive ranging from 29 to 87 µm thick with grain size from 47 nm to 31 nm. Furthermore, a specific new H related sharp absorption peak appears in all the NCD films grown with pure N2/CH4/H2 plasma at high powers and becomes stronger at powers higher than 3.0 kW and is even stronger than the 2920 cm−1 peak, which is commonly found in CVD diamond films. Based on these experimental findings, the role of high power and pure nitrogen addition on the growth of NCD films including hydrogen defect formation is analyzed and discussed.

Reduced glutathione biosynthesis in Drosophila melanogaster causes neuronal defects linked to copper deficiency.

Glutathione (GSH) is a tripeptide often considered to be the master antioxidant in cells. GSH plays an integral role in cellular redox regulation and is also known to have a role in mammalian copper homeostasis. In vitro evidence suggests that GSH is involved in copper uptake, sequestration and efflux. This study was undertaken to further investigate the roles that GSH plays in neuronal copper homeostasis in vivo, using the model organism Drosophila melanogaster. RNA interference-mediated knockdown of the Glutamate-cysteine ligase catalytic subunit gene (Gclc) that encodes the rate-limiting enzyme in GSH biosynthesis was utilised to genetically deplete GSH levels. When Gclc was knocked down in all neurons, this caused lethality, which was partially rescued by copper supplementation and was exacerbated by additional knockdown of the copper uptake transporter Ctr1A, or over-expression of the copper efflux transporter ATP7. Furthermore, when Gclc was knocked down in a subset of neuropeptide-producing cells, this resulted in adult progeny with unexpanded wings, a phenotype previously associated with copper dyshomeostasis. In these cells, Gclc suppression caused a decrease in axon branching, a phenotype further enhanced by ATP7 over-expression. Therefore, we conclude that GSH may play an important role in regulating neuronal copper levels and that reduction in GSH may lead to functional copper deficiency in neurons in vivo. We provide genetic evidence that glutathione (GSH) levels influence Cu content or distribution in vivo, in Drosophila neurons. GSH could be required for binding Cu imported by Ctr1A and distributing it to chaperones, such as Mtn, CCS and Atox1. Alternatively, GSH could modify the copper-binding and transport activities of Atox1 and the ATP7 efflux protein via glutathionylation of copper-binding cysteines.

Multilayer hybrid strategy for phishing email zero-day filtering

The cyber security threats from phishing emails have been growing buoyed by the capacity of their distributors to fine-tune their trickery and defeat previously known filtering techniques. The detection of novel phishing emails that had not appeared previously, also known as zero-day phishing emails, remains a particular challenge. This paper proposes a multilayer hybrid strategy (MHS) for zero-day filtering of phishing emails that appear during a separate time span by using training data collected previously during another time span. This strategy creates a large ensemble of classifiers and then applies a novel method for pruning the ensemble. The majority of known pruning algorithms belong to the following three categories: ranking based, clustering based, and optimization-based pruning. This paper introduces and investigates a multilayer hybrid pruning. Its application in MHS combines all three approaches in one scheme: ranking, clustering, and optimization. Furthermore, we carry out thorough empirical study of the performance of the MHS for the filtering of phishing emails. Our empirical study compares the performance of MHS strategy with other machine learning classifiers. The results of our empirical study demonstrate that MHS achieved the best outcomes and multilayer hybrid pruning performed better than other pruning techniques.

South Carolina Birth Defects Program

The South Carolina Birth Defects Program began in July 2006 after passage of the SC Birth Defects Act. This law mandates active surveillance of major birth defects identified before birth through age 2. South Carolina monitors over 50 birth defects recommended by the Centers for Disease Control and Prevention and the National Birth Defects Prevention Network. The most common birth defects in South Carolina in 2014 were: 1. Ventricular Septal Defect 2. Down Syndrome 3. Pulmonary Valve Atresia and Stenosis 4. Obstructive Genitourinary Defect.