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Fetal alcohol syndrome

Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Molly Pind, Sylvia Lamoureux, John Wei, Zhouzhi Wang, Christian R Marshall, Richard F Wintle, Albert E Chudley, Stephen W Scherer
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2...
March 13, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
Anna Banerji, Chandrakant Shah
Background: Although fetal alcohol spectrum disorder (FASD) can have a disproportionate impact in some Indigenous communities, there is a paucity of literature on its epidemiology. Objective: To characterize the epidemiology of Indigenous individuals under the age of 18 years who were diagnosed with FASD at Anishnawbe Health Toronto over a 10-year period. Methods: Children who were assessed at Anishnawbe Health Toronto from 2002 to 2012 and met the 2005 criteria for FASD were included...
June 2017: Paediatrics & Child Health
Michelle Keightley, Sabrina Agnihotri, Sivaniya Subramaniapillai, Julia Gray, Jennifer Keresztesi, Angela Colantonio, Helene J Polatajko, Debra Cameron, Catherine Wiseman-Hakes
BACKGROUND: Theatre-based interventions use artistic media to facilitate social and emotional awareness and have therapeutic benefits for persons with developmental disabilities and mental health problems. The role of these interventions with Indigenous youth who have emotional, behavioural, and cognitive sequelae related to fetal alcohol spectrum disorder (FASD) has not been explored. PURPOSE: The purpose of this study was to explore the experiences and acceptability of a theatre-based approach for facilitating social communication and engagement in youth with FASD...
January 1, 2018: Canadian Journal of Occupational Therapy. Revue Canadienne D'ergothérapie
Philip A May, Christina D Chambers, Wendy O Kalberg, Jennifer Zellner, Haruna Feldman, David Buckley, David Kopald, Julie M Hasken, Ronghui Xu, Gordon Honerkamp-Smith, Howard Taras, Melanie A Manning, Luther K Robinson, Margaret P Adam, Omar Abdul-Rahman, Keith Vaux, Tamison Jewett, Amy J Elliott, Julie A Kable, Natacha Akshoomoff, Daniel Falk, Judith A Arroyo, Dale Hereld, Edward P Riley, Michael E Charness, Claire D Coles, Kenneth R Warren, Kenneth Lyons Jones, H Eugene Hoyme
Importance: Fetal alcohol spectrum disorders are costly, life-long disabilities. Older data suggested the prevalence of the disorder in the United States was 10 per 1000 children; however, there are few current estimates based on larger, diverse US population samples. Objective: To estimate the prevalence of fetal alcohol spectrum disorders, including fetal alcohol syndrome, partial fetal alcohol syndrome, and alcohol-related neurodevelopmental disorder, in 4 regions of the United States...
February 6, 2018: JAMA: the Journal of the American Medical Association
Saumya S Jamuar, Jonathan D Picker, Joan M Stoler
OBJECTIVE: To study the utility of genetic evaluation and testing in patients with suspected fetal alcohol spectrum disorder (FASD). STUDY DESIGN: We performed a retrospective chart review of all patients (n = 36) referred for evaluation for suspected FASD to the genetics clinic at Boston Children's Hospital between January 2006 and January 2013. Records of all patients were reviewed to obtain the medical history, family history, examination findings, and investigations, including genetic testing...
February 2, 2018: Journal of Pediatrics
Jennifer G Andrews, Maureen K Galindo, F John Meaney, Argelia Benavides, Linnette Mayate, Deborah Fox, Sydney Pettygrove, Leslie O'Leary, Christopher Cunniff
BACKGROUND: The diagnosis of fetal alcohol syndrome (FAS) rests on identification of characteristic facial, growth, and central nervous system (CNS) features. Public health surveillance of FAS depends on documentation of these characteristics. We evaluated if reporting of FAS characteristics is associated with the type of provider examining the child. METHODS: We analyzed cases aged 7-9 years from the Fetal Alcohol Syndrome Surveillance Network II (FASSNetII). We included cases whose surveillance records included the type of provider (qualifying provider: developmental pediatrician, geneticist, neonatologist; other physician; or other provider) who evaluated the child as well as the FAS diagnostic characteristics (facial dysmorphology, CNS impairment, and/or growth deficiency) reported by the provider...
January 25, 2018: Birth Defects Research
Vishal D Naik, Katie Davis-Anderson, Kaviarasan Subramanian, Raine Lunde-Young, Matthew J Nemec, Jayanth Ramadoss
BACKGROUND: A cardinal feature of fetal alcohol syndrome is growth restriction. Maternal uterine artery adaptations to pregnancy correlate with birth weight and survival. We hypothesized that gestational binge alcohol exposure impairs maternal uterine vascular function, affecting endothelial nitric oxide-mediated vasodilation. METHODS: Pregnant rats grouped as pair-fed control or binge alcohol exposed received a once-daily, orogastric gavage of isocaloric maltose dextrin or alcohol, respectively...
January 24, 2018: Alcoholism, Clinical and Experimental Research
Alexandre A Lussier, Alexander M Morin, Julia L MacIsaac, Jenny Salmon, Joanne Weinberg, James N Reynolds, Paul Pavlidis, Albert E Chudley, Michael S Kobor
Background: Fetal alcohol spectrum disorder (FASD) is a developmental disorder that manifests through a range of cognitive, adaptive, physiological, and neurobiological deficits resulting from prenatal alcohol exposure. Although the North American prevalence is currently estimated at 2-5%, FASD has proven difficult to identify in the absence of the overt physical features characteristic of fetal alcohol syndrome. As interventions may have the greatest impact at an early age, accurate biomarkers are needed to identify children at risk for FASD...
2018: Clinical Epigenetics
Ludmila N Bakhireva, Laura Garrison, Shikhar Shrestha, Janet Sharkis, Rajesh Miranda, Karen Rogers
Fetal Alcohol Spectrum Disorders (FASD) might be 10-15 times more prevalent among foster/adopted children compared to the general population; however, many of these children remain undiagnosed or misdiagnosed. The lack of confirmed prenatal alcohol exposure (PAE) may be a key barrier to diagnosis. Our sample included 681 patients evaluated for FASD, according to the University of Washington 4-Digit Diagnostic Code, at a pediatric specialty clinic. Guardianship status and other patient characteristics were evaluated by multinomial logistic regression as potential predictors of being classified into one of the following FASD groups: 1) full or partial Fetal Alcohol Syndrome (FAS/pFAS; n = 97); 2) Static Encephalopathy/Alcohol-Exposed (SE/AE) or Neurobehavioral Disorder/Alcohol-Exposed (ND/AE) (n = 135); and 3) some features of FASD (equivalent to pFAS, SE/AE or ND/AE phenotypes) but unknown PAE (n = 449)...
August 24, 2017: Alcohol
Susovan Pal, Roger P Woods, Suchit Panjiyar, Elizabeth Sowell, Katherine L Narr, Shantanu H Joshi
We present a Riemannian framework for linear and quadratic discriminant classification on the tangent plane of the shape space of curves. The shape space is infinite dimensional and is constructed out of square root velocity functions of curves. We introduce the notion of mean and covariance of shape-valued random variables and samples from a tangent space to the pre-shapes (invariant to translation and scaling) and then extend it to the full shape space (rotational invariance). The shape observations from the population are approximated by coefficients of a Fourier basis of the tangent space...
2017: Conference on Computer Vision and Pattern Recognition Workshops
Matthew Valentine, Dustin C J Bihm, Lior Wolf, H Eugene Hoyme, Philip A May, David Buckley, Wendy Kalberg, Omar A Abdul-Rahman
OBJECTIVES: To compare the detection of facial attributes by computer-based facial recognition software of 2-D images against standard, manual examination in fetal alcohol spectrum disorders (FASD). METHODS: Participants were gathered from the Fetal Alcohol Syndrome Epidemiology Research database. Standard frontal and oblique photographs of children were obtained during a manual, in-person dysmorphology assessment. Images were submitted for facial analysis conducted by the facial dysmorphology novel analysis technology (an automated system), which assesses ratios of measurements between various facial landmarks to determine the presence of dysmorphic features...
December 2017: Pediatrics
Anatoly V Skalny, Margarita G Skalnaya, Andrei R Grabeklis, Anastasia A Skalnaya, Alexey A Tinkov
OBJECTIVE: To review data on the role of ethanol-induced alteration of Zn homeostasis in mediation of adverse effects of alcohol abuse. METHODS: The scholarly published articles on the association between Zn metabolism and alcohol-associated disorders (liver, brain, lung, gut dysfunction, and fetal alcohol syndrome) have been reviewed. RESULTS: It is demonstrated that alcohol-induced modulation of zinc transporters results in decreased Zn levels in lungs, liver, gut, and brain...
November 24, 2017: European Journal of Nutrition
LeeAnne Denny, Sarah Coles, Robin Blitz
Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) result from intrauterine exposure to alcohol and are the most common nonheritable causes of intellectual disability. The percentage of women who drink or binge drink during pregnancy has increased since 2012. FAS is commonly missed or misdiagnosed, preventing affected children from receiving needed services in a timely fashion. Diagnosis is based on the presence of the following clinical features, all of which must be present: prenatal and/or postnatal growth retardation, facial dysmorphology, central nervous system dysfunction, and neurobehavioral disabilities...
October 15, 2017: American Family Physician
Abraham Fainsod, Hadas Kot-Leibovich
Vertebrate model systems are central to characterize the outcomes of ethanol exposure and the etiology of Fetal Alcohol Spectrum Disorder (FASD), taking advantage of their genetic and morphological closeness and similarity to humans. We discuss the contribution of amphibian embryos to FASD research, focusing on <i>Xenopus</i> embryos. The <i>Xenopus</i> experimental system is characterized by external development and accessibility throughout embryogenesis, large clutch sizes, gene and protein activity manipulation, transgenesis and genome editing, convenient chemical treatment, explants and conjugates and many other experimental approaches...
October 25, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
Jessica D Hanson, Tess L Weber
Prenatal alcohol consumption is a public health concern due to potential lifelong physical and cognitive effects in offspring, often presenting in the form of fetal alcohol syndrome (FAS) or other fetal alcohol spectrum disorders (FASD). FASD is the continuum of lifelong outcomes in those born prenatally exposed to alcohol and includes a diagnosis of fetal alcohol syndrome (FAS), which is diagnosed through facial abnormalities, growth retardation, and delayed brain growth (Hoyme et al., 2016), as well as secondary disabilities such as conduct disorders, mental illness, and psychosocial functioning...
October 10, 2017: Alcoholism, Clinical and Experimental Research
Yehuda Shabtai, Abraham Fainsod
Several models have been proposed to explain the neurodevelopmental syndrome induced by alcohol exposure of human embryos, known as Fetal Alcohol Spectrum Disorder (FASD). One of the proposed models suggests a competition for the enzymes required for retinoic acid biosynthesis. The outcome of such competition is the development under conditions of reduced retinoic acid signaling. Retinoic acid is one of the biologically-active metabolites of vitamin A (retinol) and regulates numerous embryonic and differentiation processes...
October 5, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
Kathleen M Muldoon, Amy Armstrong-Heimsoth, Jodi Thomas
Congenital cytomegalovirus (cCMV) infections cause more children to have permanent disabilities than Down Syndrome, Fetal Alcohol Syndrome, Spina Bifida, and pediatric HIV/AIDS combined. The risk of infection during pregnancy can be significantly decreased using universal precautions, such as thorough handwashing and cleansing of surfaces and objects that have come into contact with infected body fluids. Children under 3 years of age are commonly asymptomatic excretors of CMV, with the highest viral loads present in saliva...
2017: PloS One
Fátima Nogales, M Luisa Ojeda, Karick Jotty, M Luisa Murillo, Olimpia Carreras
AIM: The fetal alcohol exposition during pregnancy leads to different disorders in offspring, related to the oxidative stress generated by alcohol. It is well-documented that there is an impairment of the antioxidant selenoprotein Glutathione peroxidase (GPx) activity in ethanol offspring during the embryo period, although no-one has described Selenium (Se) status. The aim is to analyze for the first time Se deposits in vivo and Se's biological implication in embryos and placenta after alcohol exposure and in offspring whose mothers continued to drink ethanol during lactation...
December 1, 2017: Life Sciences
R A Condorelli, A E Calogero, M Di Mauro, L M Mongioi', R Cannarella, G Rosta, S La Vignera
BACKGROUND: Insulin resistance is a common feature among women with polycystic ovary syndrome (PCOS), especially in those patients with hyperandrogenism and chronic anovulation. PCOS women are at risk for developing metabolic syndrome, impaired glucose tolerance and type II diabetes mellitus (DM II). OBJECTIVE: The aim of this review is to explore the existing knowledge of the interplay between androgen excess, pancreatic β-cell function, non-alcoholic fatty liver disease (NAFLD), intra-abdominal and subcutaneous (SC) abdominal adipocytes in PCOS, providing a better comprehension of the molecular mechanisms of diabetologic interest...
September 23, 2017: Journal of Endocrinological Investigation
Ruth M Labardee, Jaime R Swartzwelder, Karen E Gebhardt, Justine A Pardi, Anna C Dawsey, R Brent Dixon, Steven W Cotten
OBJECTIVE: Neonatal abstinence syndrome (NAS) is a rising concern with unknown long-term effects. It is apparent that higher cost of care, impact on the community and reduced quality of life are associated with similar etiologies (e.g., fetal alcohol syndrome). Detection of drug exposure in utero allows for earlier intervention to potentially reduce undesired outcomes. Umbilical cord tissue (UCT) has been documented as a readily accessible specimen for detection of drug exposure and has emerged as an alternative specimen to meconium...
December 2017: Clinical Biochemistry
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