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developmental screening

Qingping Zhang, Jiarui Li, Ying Zhao, Xinhua Bao, Liping Wei, Jiaping Wang
To investigate the genetic characteristics and clinical features of a cohort of Chinese patients with early-onset epileptic encephalopathies (EOEEs). Targeted next-generation sequencing (NGS), focusing on 17 genes, was performed on 175 Chinese patients with EOEEs to screen gene mutations. The mutation rate was 32% (56/175). All mutations were de novo and heterozygous, including 41 novel and 15 reported mutations. Patients with cyclin-dependent kinase-like 5 (CDKL5) gene mutation accounted for the largest proportion-13...
October 25, 2016: Clinical Genetics
Linda M Reis, Rebecca C Tyler, Eric Weh, Kathryn E Hendee, Ariana Kariminejad, Omar Abdul-Rahman, Tawfeg Ben-Omran, Melanie A Manning, Catherine A McCarty, Terrie E Kitchner, Deborah Costakos, Elena V Semina
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). METHODS: We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined...
2016: Molecular Vision
Hsin-Yi Kathy Cheng, Li-Ying Chen, Chih-Hsiu Cheng, Yan-Ying Ju, Chia-Ling Chen, Kevin C Tseng
BACKGROUND: Identifying disability early in life confers long-term benefits for children. The Taipei City Child Development Screening tool, second version (Taipei II) provides checklists for 13 child age groups from 4 months to 6 years. However, the usability of a text-based screening tool largely depends on the literacy level and logical reasoning ability of the caregivers, as well as language barriers caused by increasing numbers of immigrants. OBJECTIVE: The objectives of this study were to (1) design and develop a Web-based multimedia version of the current Taipei II developmental screening tool, and (2) investigate the measurement equivalence of this multimedia version to the original paper-based version...
October 24, 2016: Journal of Medical Internet Research
E Azria
OBJECTIVES: To identify clinical situations in which progestatives used to reduce the risk of spontaneous preterm delivery and/or reduced adverse neonatal outcomes have been evaluated and identify situations in which 17OHPC or vaginal progesterone might be recommended. METHODS: Bibliographic searches were performed in the Medline and Cochrane databases with the use of a combination of keywords and text words related to "progesterone", "tocolysis", and "preterm labor" from 1956 through July 2016...
October 21, 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
Huiting Zhao, Yali Du, Pengfei Gao, Shujie Wang, Jianfang Pan, Yusuo Jiang
Chemosensory genes play a central role in sensing chemical signals and guiding insect behavior. The Chinese honeybee, Apis cerana cerana, is one of the most important insect species in China in terms of resource production, and providing high-quality products for human consumption, and also serves as an important pollinator. Communication and foraging behavior of worker bees is likely linked to a complex chemosensory system. Here, we used transcriptome sequencing on adult A. c. cerana workers of different ages to identify the major chemosensory gene families and the differentially expressed genes(DEGs), and to investigate their expression profiles...
2016: PloS One
Akshay Shekhar, Xianming Lin, Fang-Yu Liu, Jie Zhang, Huan Mo, Lisa Bastarache, Joshua C Denny, Nancy J Cox, Mario Delmar, Dan M Roden, Glenn I Fishman, David S Park
Rapid impulse propagation in the heart is a defining property of pectinated atrial myocardium (PAM) and the ventricular conduction system (VCS) and is essential for maintaining normal cardiac rhythm and optimal cardiac output. Conduction defects in these tissues produce a disproportionate burden of arrhythmic disease and are major predictors of mortality in heart failure patients. Despite the clinical importance, little is known about the gene regulatory network that dictates the fast conduction phenotype. Here, we have used signal transduction and transcriptional profiling screens to identify a genetic pathway that converges on the NRG1-responsive transcription factor ETV1 as a critical regulator of fast conduction physiology for PAM and VCS cardiomyocytes...
October 24, 2016: Journal of Clinical Investigation
François Vromman, Stéphanie Perrinet, Lena Gehre, Agathe Subtil
Chlamydiae are Gram negative bacteria that develop exclusively inside eukaryotic host cells, within a membrane-bounded compartment. Members of the family Chlamydiaceae, such as Chlamydia trachomatis, are pathogenic species infecting vertebrates. They have a very reduced genome and exploit the capacities of their host for their own development, mainly through the secretion of proteins tailored to interfere with eukaryotic processes, called effector proteins. All Chlamydiaceae possess genes coding for four to five effectors that share a domain of unknown function (DUF582)...
2016: Frontiers in Cellular and Infection Microbiology
Jaana Alakortes, Susanna Kovaniemi, Alice S Carter, Risto Bloigu, Irma K Moilanen, Hanna E Ebeling
Growing evidence supports the existence of clinically significant social-emotional/behavioral (SEB) problems among as young as 1-year-old infants. However, a substantial proportion of early SEB problems remain unidentified during contacts with child healthcare professionals. In this study, child healthcare nurse (CHCN; N = 1008) and parental (N = 518) reports about SEB worries were gathered, along with the maternal and paternal Brief Infant-Toddler Social and Emotional Assessment (BITSEA) ratings, for 12-month-old infants randomly recruited through Finnish child health centers...
October 21, 2016: European Child & Adolescent Psychiatry
Louise Hetherington, Elena Schneider, Caroline Scott, David DeKretser, Charles H Muller, Hubert Hondermarck, Tony Velkov, Mark A Baker
Globally, approximately 1 in 15 men of reproductive age are infertile, yet the precise mechanisms underlying their gamete failure are unknown. Although a semen-analysis is performed to determine fertilizing potential, the diagnostic suitability of this analysis has been questioned in several reports, as many men, classified as "infertile" according to their semen analysis, subsequently turn out to be fertile. Herein, we have used a quantitative (phospho)-proteomic analysis, using enrichment on titanium dioxide followed by ion-trap mass spectrometry (LC-MS/MS), to compare the semen of infertile versus fertile males...
October 21, 2016: Molecular & Cellular Proteomics: MCP
Ido Sagi, Dieter Egli, Nissim Benvenisty
Haploid human pluripotent stem cells (PSCs) integrate haploidy and pluripotency, providing a novel system for functional genomics and developmental research in humans. We have recently derived haploid human embryonic stem cells (ESCs) by parthenogenesis and demonstrated their wide differentiation potential and applicability for genetic screening. Because haploid cells can spontaneously become diploid, their enrichment at an early passage is key for successful derivation. In this protocol, we describe two methodologies, namely metaphase spread analysis and cell sorting, for the identification of haploid human cells within parthenogenetic ESC lines...
November 2016: Nature Protocols
Rahul Tyagi, Marcin R Zgoda, Rachel Short
National Health Service Quality Improvement Scotland (NHS QIS) published a health technology scoping report in 2006 acknowledging that there are serious concerns within Scotland in relation to Developmental Dysplasia of Hip (DDH) as there is no formal screening program in place and there are significant variations between NHS boards leading to confusion for staff and parents. NHS QIS identified need for audit work to improve hip screening in Scotland. The aim of this study is review of current practice of selective screening for DDH...
September 19, 2016: Orthopedic Reviews
Grzegorz Jedrzejewski, Magdalena M Wozniak, Agata Pawelec, Albert Matera, Magdalena Kunach, Tomasz Madej, Andrzej P Wieczorek, Katarzyna Nowakowska
The aim of the ultrasound (US) screening program was to detect neoplastic lesions in children, together with other pathologies of the developmental age in the area of the neck, abdomen, female pelvis, and scrotum in boys.US screening scans, including cervical, abdominal, pelvical, and scrotal US, were performed in the population of asymptomatic children aged from 9 months to 6 years. The children were scanned in Mobile Pediatric US Unit, consisting of 2 independent consulting rooms.The scans of 14,324 children were analyzed, 7247 boys and 7077 girls...
October 2016: Medicine (Baltimore)
Estrella Romero, Concepción Rodríguez, Paula Villar, X Antón Gómez-Fraguela
The aim of this study is to evaluate the long-term effects of a manualised program which intervenes on children with early-onset conduct problems, their families and teachers. The program evaluation involved 14 primary schools which were randomly assigned to the intervention (45 participating families) and control (30 families) conditions during 2007-2008. After a screening process which identified children with significant conduct problems both at home with their family and at school, the program was implemented in eight schools...
September 29, 2016: Adicciones
Ola Ozernov-Palchik, Elizabeth S Norton, Georgios Sideridis, Sara D Beach, Maryanne Wolf, John D E Gabrieli, Nadine Gaab
Research suggests that early identification of developmental dyslexia is important for mitigating the negative effects of dyslexia, including reduced educational attainment and increased socioemotional difficulties. The strongest pre-literacy predictors of dyslexia are rapid automatized naming (RAN), phonological awareness (PA), letter knowledge, and verbal short-term memory. The relationship among these constructs has been debated, and several theories have emerged to explain the unique role of each in reading ability/disability...
October 17, 2016: Developmental Science
Luisa Schonhaut B, Marcela Pérez R, Ana María Castilla F, Sonia Castro M, Patricia Salinas A, Iván Armijo R
INTRODUCTION: The Ages and Stages questionnaires (ASQ) has been recently validated in our country for developmental screening. The objective of this study is evaluate the validity of ASQ to predict low cognitive performance in the early years of schooling. PATIENTS AND METHOD: Diagnostic test studies conducted on a sample of children of medium-high socioeconomic level were evaluated using ASQ at least once at 8, 18 and/or 30 months old, and later, between 6 and 9 years old, reevaluated using the Wechsler Intelligence Scale for Children-third edition (WISC-III)...
October 13, 2016: Revista Chilena de Pediatría
Brigham J Hartley, Kristen J Brennand
Human induced pluripotent stem cells (hiPSCs) can theoretically yield limitless supplies of cells fated to any cell type that comprise the human organism, making them a new tool by which to potentially overcome caveats in current biomedical research. In vitro derivation of central nervous system (CNS) cell types has the potential to provide material for drug discovery and validation, safety and toxicity assays, cell replacement therapy and the elucidation of previously unknown disease mechanisms. However, current two-dimensional (2D) CNS differentiation protocols do not faithfully recapitulate the spatial organization of heterogeneous tissue, nor the cell-cell interactions, cell-extracellular matrix interactions, or specific physiological functions generated within complex tissue such as the brain...
October 12, 2016: Neurochemistry International
Konstantinos A Economou, Dimitra Christopikou, Erika Tsorva, Stephen Davies, Minas Mastrominas, Haris Cazlaris, Michael Koutsilieris, Panagoula Angelogianni, Dimitris Loutradis
PURPOSE: Artificial oocyte activation using calcium ionophores and enhancement of embryonic developmental potential by the granulocyte-macrophage colony-stimulating factor (GM-CSF) have already been reported. In this study, we evaluated the synergistic effect of these two methods on aged human unfertilized oocytes after intracytoplasmic sperm injection (ICSI). Then, we cultured the resulting embryos to the blastocyst stage and screened them for chromosomal abnormalities, to assess the safety of this protocol...
October 14, 2016: Journal of Assisted Reproduction and Genetics
James M Brown, Neil R Horner, Thomas N Lawson, Tanja Fiegel, Simon Greenaway, Hugh Morgan, Natalie Ring, Luis Santos, Duncan Sneddon, Lydia Teboul, Jennifer Vibert, Gagarine Yaikhom, Henrik Westerberg, Ann-Marie Mallon
High-throughput phenotyping is a cornerstone of numerous functional genomics projects. In recent years, imaging screens have become increasingly important in understanding gene-phenotype relationships in studies of cells, tissues and whole organisms. Three-dimensional (3D) imaging has risen to prominence in the field of developmental biology for its ability to capture whole embryo morphology and gene expression, as exemplified by the International Mouse Phenotyping Consortium (IMPC). Large volumes of image data are being acquired by multiple institutions around the world that encompass a range of modalities, proprietary software and metadata...
October 14, 2016: Briefings in Bioinformatics
Gaurav V Sanghvi, Praveen Baskaran, Waltraud Röseler, Bogdan Sieriebriennikov, Christian Rödelsperger, Ralf J Sommer
Nematodes, the earth's most abundant metazoa are found in all ecosystems. In order to survive in diverse environments, they have evolved distinct feeding strategies and they can use different food sources. While some nematodes are specialists, including parasites of plants and animals, others such as Pristionchus pacificus are omnivorous feeders, which can live on a diet of bacteria, protozoans, fungi or yeast. In the wild, P. pacificus is often found in a necromenic association with beetles and is known to be able to feed on a variety of microbes as well as on nematode prey...
2016: PloS One
Hannes Schmidt, Stefanie Peters, Katharina Frank, Lai Wen, Robert Feil, Fritz G Rathjen
A cGMP signaling pathway, comprising C-type natriuretic peptide (CNP), its guanylate cyclase receptor Npr2, and cGMP-dependent protein kinase I (cGKI), is critical for the bifurcation of dorsal root ganglion (DRG) and cranial sensory ganglion axons when entering the mouse spinal cord and the hindbrain, respectively. However, the identity and functional relevance of phosphodiesterases (PDEs) that degrade cGMP in DRG neurons are not completely understood. Here we asked whether regulation of the intracellular cGMP concentration by PDEs modulates the branching of sensory axons...
October 14, 2016: European Journal of Neuroscience
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