keyword
MENU ▼
Read by QxMD icon Read
search

developmental needs

keyword
https://www.readbyqxmd.com/read/28944577/de-novo-mutations-in-hnrnpu-result-in-a-neurodevelopmental-syndrome
#1
T Michael Yates, Pradeep C Vasudevan, Kate E Chandler, Deirdre E Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, Meena Balasubramanian
Exome sequencing in the context of developmental disorders is a useful technique, but variants found need to be interpreted in the context of detailed phenotypic information. Whole gene deletions and loss-of-function-mutations in the HNRNPU gene have been associated with intellectual disability and seizures in some patients. However, a unifying syndromic phenotype has not been previously elucidated. Here, we report a total of seven patients (six patients identified through the Wellcome Trust Deciphering Developmental Disorders study, with one additional patient), who have heterozygous de novo mutations in HNRNPU...
September 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28944315/is-chronic-ahr-activation-by-rapidly-metabolized-ligands-safe-for-the-treatment-of-immune-mediated-diseases
#2
Allison K Ehrlich, Nancy I Kerkvliet
There is a long standing perception that AhR ligands are automatically disqualified from pharmaceutical development due to their induction of Cyp1a1 as well as their potential for causing "dioxin-like" toxicities. However, recent discoveries of new AhR ligands with potential therapeutic applications have been reported, inviting reconsideration of this policy. One area of exploration is focused on the activation of AhR to promote the generation of regulatory T cells, which control the intensity and duration of immune responses...
February 2017: Current Opinion in Toxicology
https://www.readbyqxmd.com/read/28944229/targeting-trisomic-treatments-optimizing-dyrk1a-inhibition-to-improve-down-syndrome-deficits
#3
REVIEW
Megan Stringer, Charles R Goodlett, Randall J Roper
Overexpression of Dual-specificity tyrosine-phosphorylated regulated kinase 1A (DYRK1A), located on human chromosome 21, may alter molecular processes linked to developmental deficits in Down syndrome (DS). Trisomic DYRK1A is a rational therapeutic target, and although reductions in Dyrk1a genetic dosage have shown improvements in trisomic mouse models, attempts to reduce Dyrk1a activity by pharmacological mechanisms and correct these DS-associated phenotypes have been largely unsuccessful. Epigallocatechin-3-gallate (EGCG) inhibits DYRK1A activity in vitro and this action has been postulated to account for improvement of some DS-associated phenotypes that have been reported in preclinical studies and clinical trials...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28944044/shifting-paradigm-of-maternal-and-perinatal-death-review-system-in-bangladesh-a-real-time-approach-to-address-sustainable-developmental-goal-3-by-2030
#4
REVIEW
Animesh Biswas
Recently, Bangladesh has made remarkable progress in reducing maternal and neonatal morality, even though the millennium developmental goal to reduce maternal and neonatal mortality was not achieved. Sustainable Developmental Goal (SDG) 3 has already been set for a new target to reduce maternal and neonatal deaths by 2030. The country takes this timely initiative to introduce a maternal and perinatal death review system. This review will discuss the shifting paradigm of the maternal and perinatal death review system in Bangladesh and its challenges in reaching the SDG on time...
2017: F1000Research
https://www.readbyqxmd.com/read/28942769/life-history-systematics-and-evolution-of-the-diplostomoidea-poirier-1886-progress-promises-and-challenges-emerging-from-molecular-studies
#5
Isabel Blasco-Costa, Sean A Locke
Members of the Diplostomoidea mature in amniotes and employ vertebrates, annelids and molluscs as second intermediate hosts. Diplostomoid life cycles generally follow a three-host pattern typical of digeneans, but novelties have arisen in some species, including obligate four-host life cycles, vertical transmission, and intracellular parasitism. In this review, we summarize the basic biology of diplostomoids with reference to molecular studies, and present challenges, gaps and areas where molecular data could address long-standing questions...
2017: Advances in Parasitology
https://www.readbyqxmd.com/read/28942767/measuring-the-effect-of-soil-transmitted-helminth-infections-on-cognitive-function-in-children-systematic-review-and-critical-appraisal-of-evidence
#6
Kei Owada, Mark Nielsen, Colleen L Lau, Archie C A Clements, Laith Yakob, Ricardo J Soares Magalhães
Recently the role of soil-transmitted helminth (STH) infections in children's cognitive developmental impairment has been under scrutiny. We conducted a systematic review of the evidence for associations between STH infections and cognitive function of children using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol. We aimed to identify the domains of cognitive function in three age strata (<24months, 24-59months and ≥60months) and critically appraise the general design protocol of the studies, with a focus on the cognitive function measurement tools used...
2017: Advances in Parasitology
https://www.readbyqxmd.com/read/28941954/a-parental-report-of-youth-transition-readiness-the-parent-starx-questionnaire-starx-p-and-re-evaluation-of-the-starx-child-report
#7
Meaghan Nazareth, Laura Hart, Maria Ferris, Eniko Rak, Stephen Hooper, Miranda A L van Tilburg
PURPOSE: The STARx Questionnaire is a self-report measure of health care transition (HCT) readiness in youth with chronic diseases. We aimed to improve reliability and generalizability of the STARx and report initial reliability data on the STARx-P Questionnaire, a self-report measure of parent perspective on their child's HCT readiness. METHODS: Participants were recruited in several clinics from a large academic hospital in the southeastern USA and via the therapeutic summer camp for children with chronic disease...
September 20, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28939125/toxic-elements-and-associations-with-hematology-plasma-biochemistry-and-protein-electrophoresis-in-nesting-loggerhead-sea-turtles-caretta-caretta-from-casey-key-florida
#8
Justin R Perrault, Nicole I Stacy, Andreas F Lehner, Savannah K Poor, John P Buchweitz, Catherine J Walsh
Toxic elements (arsenic, cadmium, lead, mercury, selenium, thallium) are a group of contaminants that are known to elicit developmental, reproductive, general health, and immune system effects in reptiles, even at low concentrations. Reptiles, including marine turtles, are susceptible to accumulation of toxic elements due to their long life span, low metabolic rate, and highly efficient conversion of prey into biomass. The objectives of this study were to (1) document concentrations of arsenic, cadmium, lead, mercury, selenium, and thallium in whole blood and keratin from nesting loggerhead sea turtles (Caretta caretta) from Casey Key, Florida and document correlations thereof and (2) correlate whole blood toxic element concentrations to various hematological and plasma biochemistry analytes...
September 19, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28938744/an-improved-ivm-method-for-cumulus-oocyte-complexes-from-small-follicles-in-polycystic-ovary-syndrome-patients-enhances-oocyte-competence-and-embryo-yield
#9
F Sánchez, F Lolicato, S Romero, M De Vos, H Van Ranst, G Verheyen, E Anckaert, J E J Smitz
STUDY QUESTION: Are meiotic and developmental competence of human oocytes from small (2-8 mm) antral follicles improved by applying an optimized IVM method involving a prematuration step in presence of C-Type Natriuretic Peptide (CNP) followed by a maturation step in presence of FSH and Amphiregulin (AREG)? SUMMARY ANSWER: A strategy involving prematuration culture (PMC) in the presence of CNP followed by IVM using FSH + AREG increases oocyte maturation potential leading to a higher availability of Day 3 embryos and good-quality blastocysts for single embryo transfer...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28937449/persistent-encopresis-enuresis-and-anxiety-in-a-7-year-old-girl
#10
Theodora Nelson, Heekyung Chae, Ran D Anbar, Martin T Stein
Sonia is a 7-year-old old girl who was referred to the Developmental-Behavioral Pediatrics Clinic by the Pediatric Urology Clinic because of persistent wetting and soiling behaviors. Since age 3 years, she has had a history of encopresis (and wetting) for which she has seen gastroenterology and urology specialists. The mother reports that Sonia has accidents almost daily, and she is not upset when sitting in her urine or feces. She dislikes going into the bathroom or sitting on the toilet by herself. She participated in a behavior modification program associated with the pediatric urology clinic, which helps children learn healthy voiding habits and achieve continence...
September 19, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28935704/the-splicing-co-factor-barricade-tat-sf1-is-required-for-cell-cycle-and-lineage-progression-in-drosophila-neural-stem-cells
#11
Monika K Abramczuk, Thomas R Burkard, Vivien Rolland, Victoria Steinmann, Peter Duchek, Yanrui Jiang, Sebastian Wissel, Heinrich Reichert, Juergen A Knoblich
Stem cells need to balance self-renewal and differentiation for correct tissue development and homeostasis. Defects in this balance can lead to developmental defects or tumor formation. In recent years, mRNA splicing has emerged as one important mechanism regulating cell fate decisions. Here we address the role of the evolutionary conserved splicing co-factor Barricade (Barc)/Tat-SF1/CUS2 in Drosophila neural stem cell (neuroblast) lineage formation. We show that Barc is required for the generation of neurons during Drosophila brain development by ensuring correct neural progenitor proliferation and differentiation...
September 21, 2017: Development
https://www.readbyqxmd.com/read/28934960/medium-term-results-following-arthroscopic-reduction-in-walking-age-children-with-developmental-hip-dysplasia-after-failed-closed-reduction
#12
REVIEW
Liang Zhao, Hua Yan, Changsheng Yang, Daozhang Cai, Yijun Wang
BACKGROUND: Arthroscopic reduction has become increasingly popular as an alternative to open reduction for the treatment of developmental dysplasia of the hip (DDH). However, patient outcomes beyond one and a half years after surgery remain unclear. The purpose of this study is to report the medium-term outcomes of walking-age patients who received arthroscopic reduction after an unsuccessful closed reduction. This research was conducted as part of a retrospectively registered study. METHODS: We performed arthroscopic reduction in eight children with DDH after failed closed reduction between January 2010 and January 2012 and followed all cases for a minimum of 5 years...
September 21, 2017: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/28934690/butyl-benzyl-phthalate-bbp-induces-caudal-defects-during-embryonic-development
#13
Nicole M Roy, Ewelina Zambrzycka, Jenna Santangelo
Butyl benzyl phthalate (BBP) is commonly added during the manufacturing of plastics to increase flexibility and elasticity. However, BBP leaches off of plastic and environment presence has been detected in soil, groundwater and sediment potentially effecting organisms in the environment. Given the widespread uses of BBP in household, consumer goods and the presence of BBP in the environment, studies on developmental toxicity are needed. Here, we use a zebrafish model to investigate the early developmental toxicity of BBP...
September 18, 2017: Environmental Toxicology and Pharmacology
https://www.readbyqxmd.com/read/28934093/combined-prenatal-pesticide-exposure-and-folic-acid-intake-in-relation-to-autism-spectrum-disorder
#14
Rebecca J Schmidt, Vladimir Kogan, Janie F Shelton, Lora Delwiche, Robin L Hansen, Sally Ozonoff, Claudia C Ma, Erin C McCanlies, Deborah H Bennett, Irva Hertz-Picciotto, Daniel J Tancredi, Heather E Volk
BACKGROUND: Maternal folic acid (FA) protects against developmental toxicity from certain environmental chemicals. OBJECTIVE: We examined combined exposures to maternal FA and pesticides in relation to autism spectrum disorder (ASD). METHODS: Participants were California children born from 2000-2007 who were enrolled in the Childhood Autism Risks from Genetics and the Environment (CHARGE) case-control study at age 2-5 y, were clinically confirmed to have ASD (n=296) or typical development (n=220), and had information on maternal supplemental FA and pesticide exposures...
September 8, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28933877/the-developmental-course-of-community-service-across-the-transition-to-adulthood-in-a-national-u-s-sample
#15
Laura Wray-Lake, John Schulenberg, Katherine M Keyes, Jennifer Shubert
Despite the importance of community service for the well-being of individuals and communities, relatively little is known about the developmental course of community service during the transition to adulthood (TTA). This study tested competing hypotheses about change in community service across the TTA by estimating latent growth models from Ages 18 to 26 in a national U.S. SAMPLE: Analyses tested for cohort differences in community service and for individual differences in developmental trajectories by socioeconomic status, gender, grades, religiosity, race/ethnicity, college expectations, and college degree attainment...
September 21, 2017: Developmental Psychology
https://www.readbyqxmd.com/read/28932164/assessment-of-perceived-needs-and-preferences-with-regard-to-the-education-of-residents-in-medical-ethics-in-king-abdulaziz-university-hospital
#16
Ranya A Ghamri, Rajaa M Al-Raddadi
INTRODUCTION: Medical ethics is the branch of ethics that deals with moral issues in medical practice. Many postgraduate training programs have developed educational interventions in ethics to meet accreditation standards and prepare learners for certification examinations and clinical practice. The aim of this study was to assess the attitude of residents in King Abdulaziz University Hospital (KAUH) toward the need for ethics education and identify the most effective methods of teaching ethical issues...
September 2017: Journal of Family & Community Medicine
https://www.readbyqxmd.com/read/28932018/measuring-orthographic-transparency-and-morphological-syllabic-complexity-in-alphabetic-orthographies-a-narrative-review
#17
REVIEW
Elisabeth Borleffs, Ben A M Maassen, Heikki Lyytinen, Frans Zwarts
This narrative review discusses quantitative indices measuring differences between alphabetic languages that are related to the process of word recognition. The specific orthography that a child is acquiring has been identified as a central element influencing reading acquisition and dyslexia. However, the development of reliable metrics to measure differences between language scripts hasn't received much attention so far. This paper therefore reviews metrics proposed in the literature for quantifying orthographic transparency, syllabic complexity, and morphological complexity of alphabetic languages...
2017: Reading and Writing
https://www.readbyqxmd.com/read/28931816/tgf%C3%AE-r-signalling-controls-cd103-cd11b-dendritic-cell-development-in-the-intestine
#18
C C Bain, J Montgomery, C L Scott, J M Kel, M J H Girard-Madoux, L Martens, T F P Zangerle-Murray, J Ober-Blöbaum, D Lindenbergh-Kortleve, J N Samsom, S Henri, T Lawrence, Y Saeys, B Malissen, M Dalod, B E Clausen, A McI Mowat
CD103(+)CD11b(+) dendritic cells (DCs) are unique to the intestine, but the factors governing their differentiation are unclear. Here we show that transforming growth factor receptor 1 (TGFβR1) has an indispensable, cell intrinsic role in the development of these cells. Deletion of Tgfbr1 results in markedly fewer intestinal CD103(+)CD11b(+) DCs and a reciprocal increase in the CD103(-)CD11b(+) dendritic cell subset. Transcriptional profiling identifies markers that define the CD103(+)CD11b(+) DC lineage, including CD101, TREM1 and Siglec-F, and shows that the absence of CD103(+)CD11b(+) DCs in CD11c-Cre...
September 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28930814/neurologic-and-functional-morbidity-in-critically-ill-children-with-bronchiolitis
#19
Steven L Shein, Katherine N Slain, Jason A Clayton, Bryan McKee, Alexandre T Rotta, Deanne Wilson-Costello
OBJECTIVES: Neurologic and functional morbidity occurs in ~30% of PICU survivors, and young children may be at particular risk. Bronchiolitis is a common indication for PICU admission among children less than 2 years old. Two single-center studies suggest that greater than 10-25% of critical bronchiolitis survivors have neurologic and functional morbidity but those estimates are 20 years old. We aimed to estimate the burden of neurologic and functional morbidity among more recent bronchiolitis patients using two large, multicenter databases...
September 19, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28929413/accessing-support-before-or-after-a-parent-dies-from-cancer-and-young-people-s-current-wellbeing
#20
A Varathakeyan, F E J McDonald, P Patterson, K Nicholson Perry, K R Allison
PURPOSE: To examine differences in distress and unmet needs between bereaved adolescent and young adult (AYA) offspring who accessed support before and after being bereaved by parental cancer, and to explore aspects of their cancer experience that influenced their help-seeking. METHODS: Phase 1: Surveys completed by AYAs (11-26 years) bereaved by parental cancer were subjected to analysis of covariance examining differences in distress and unmet needs between those who accessed support before (n = 159) and after (n = 212) parental bereavement...
September 19, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
keyword
keyword
53140
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"