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Newborn Screening

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https://www.readbyqxmd.com/read/28097835/cognitive-profiles-of-patients-with-early-detected-and-treated-congenital-hypothyroidism
#1
María L Pardo Campos, Mariel Musso, Ana Keselman, Laura Gruñeiro, Ignacio Bergadá, Ana Chiesa
INTRODUCTION: Children with congenital hypothyroidism (CH) detected by newborn screening and adequately treated may have mild cognitive deficits. OBJECTIVES">To assess the intelligence quotient of children with CH and identify the presence of specific cognitive deficits. POPULATION AND METHODS: A group of 60 children with CH detected by newborn screening, who were aged 9-10 years old and received adequate treatment since their first month of life was selected and compared to a control group of 60 children without CH in the same age range...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28096516/newborn-sequencing-in-genomic-medicine-and-public-health
#2
Jonathan S Berg, Pankaj B Agrawal, Donald B Bailey, Alan H Beggs, Steven E Brenner, Amy M Brower, Julie A Cakici, Ozge Ceyhan-Birsoy, Kee Chan, Flavia Chen, Robert J Currier, Dmitry Dukhovny, Robert C Green, Julie Harris-Wai, Ingrid A Holm, Brenda Iglesias, Galen Joseph, Stephen F Kingsmore, Barbara A Koenig, Pui-Yan Kwok, John Lantos, Steven J Leeder, Megan A Lewis, Amy L McGuire, Laura V Milko, Sean D Mooney, Richard B Parad, Stacey Pereira, Joshua Petrikin, Bradford C Powell, Cynthia M Powell, Jennifer M Puck, Heidi L Rehm, Neil Risch, Myra Roche, Joseph T Shieh, Narayanan Veeraraghavan, Michael S Watson, Laurel Willig, Timothy W Yu, Tiina Urv, Anastasia L Wise
The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice...
January 17, 2017: Pediatrics
https://www.readbyqxmd.com/read/28095810/neonatal-screening-for-congenital-adrenal-hyperplasia-in-southern-brazil-a-population-based-study-with-108-409-infants
#3
Cristiane Kopacek, Simone Martins de Castro, Mayara Jorgens Prado, Claudia Maria Dornelles da Silva, Luciana Amorim Beltrão, Poli Mara Spritzer
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil...
January 17, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28094087/-management-of-jaundice-in-the-newborn%C3%A2-35%C3%A2-gw-from-screening-to-follow-up-after-discharge-guidelines-for-clinical-practice
#4
A Cortey, L Renesme, J Raignoux, A Bedu, C Casper, P Tourneux, P Truffert
Jaundice due to unconjugated bilirubin is an everyday condition in the neonatal period because it results from the adaptation of bilirubin metabolism at this time of life. Hyperbilirubinemia has a potential neurotoxicity and although it most often resolves spontaneously, it can lead to acute and sometimes chronic encephalopathy. The latter condition is called kernicterus and induces severe and irreversible neurological sequelae. This rare complication is still reported in all countries throughout the world even if severe hyperbilirubinemia can be prevented and critical points points of failure in jaundice management are identified...
January 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28093642/the-ethical-framework-for-performing-research-with-rare-inherited-neurometabolic-disease-patients
#5
Viviana Giannuzzi, Hugo Devlieger, Lucia Margari, Viveca Lena Odlind, Lamis Ragab, Cinzia Maria Bellettato, Francesca D'Avanzo, Christina Lampe, Linda Cassis, Elisenda Cortès-Saladelafont, Ángels Garcia Cazorla, Ivo Barić, Ljerka Cvitanović-Šojat, Ksenija Fumić, Christine I Dali, Franco Bartoloni, Fedele Bonifazi, Maurizio Scarpa, Adriana Ceci
: The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patients; the neurological impairment may compromise the capability to provide 'consent'; and the genetic nature of the disease leads to further ethical implications. This work is intended to identify the ethical provisions applicable to clinical research involving these patients and to evaluate if these cover the ethical issues...
January 16, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28092316/expanded-newborn-screening-challenges-to-nicu-nurses
#6
Rachel A Joseph
BACKGROUND: Newborn screening programs provide testing for all newborns born in this country for conditions that can potentially cause death or disability. Currently each state is responsible for its programs and the number of disorders screened varies from state to state. The current universal recommended metabolic screening panel may include 32 to 58 disorders. Expansion of the programs has impacted the role of nurses in the neonatal intensive care units (NICUs). Nurses are responsible for facilitating the screening process, educating the family, and assisting with follow-up...
January 12, 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/28092246/-neonatal-hearing-screening-and-early-intervention-a-screening-program-to-evaluate-all-infants-to-identify-the-hearing-impaired
#7
Beatriz González-Jiménez, Efrén Delgado-Mendoza, Rafael Rojano-González, Florencia Valdez-Izaguirre, Pedro Gutiérrez-Aguilar, Félix Guillermo Márquez-Celedonio, Mario González-Santes
BACKGROUND: Neonatal Hearing Screening and Early Intervention (NHSEI) is a screening program to evaluate all infants and identify those with hearing impairment. The objective of this work was to determine the factors associated with hearing loss in NHSEI program. METHODS: Analytical cross-sectional study was performed. 234 infants were included in the NHSEI program, hearing was evaluated with transitory evoked otoacoustic emissions (TEOE) at frequencies of 1.5 to 4...
January 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28092064/critical-congenital-heart-disease-newborn-screening-implementation-lessons-learned
#8
Monica R McClain, John S Hokanson, Regina Grazel, Kim Naarden Van Braun, Lorraine F Garg, Michelle R Morris, Kathleen Moline, Keri Urquhart, Amy Nance, Harper Randall, Marci K Sontag
Introduction The purpose of this article is to present the collective experiences of six federally-funded critical congenital heart disease (CCHD) newborn screening implementation projects to assist federal and state policy makers and public health to implement CCHD screening. Methods A qualitative assessment and summary from six demonstration project grantees and other state representatives involved in the implementation of CCHD screening programs are presented in the following areas: legislation, provider and family education, screening algorithms and interpretation, data collection and quality improvement, telemedicine, home and rural births, and neonatal intensive care unit populations...
January 16, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28089752/three-novel-mutations-of-arg1-identified-in-chinese-patients-with-argininemia-detected-by-newborn-screening
#9
Ting Zhang, Jianbin Yang, Xiaoshan Yin, Ping Yu, Robert Mooney, Xinwen Huang, Ming Qi
Argininemia is a rare autosomal recessive genetic disorder caused by deficiency of arginase Ι, resulting from mutations in the ARG1 gene. Few genetic studies of ARG1 mutations in Chinese patients have been reported. In this study, two argininemia patients were initially diagnosed by tandem mass spectrometry in newborn screening. Mutation analysis of the ARG1 gene was performed by direct sequencing. Three novel mutations were identified and in silico methods were used to predict the impact of these mutations on the activity of enzyme...
January 12, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28089231/-mother-to-child-transmission-of-hepatitis-b-virus-despite-postexposure-prophylaxis-a-review-of-the-literature-and-description-of-11%C3%A2-observations
#10
B Biot, N Laverdure, F Lacaille, A Lachaux
Chronic hepatitis B virus (HBV) infection leads to a risk of developing cirrhosis and hepatocellular carcinoma. In France, where the prevalence of HBV is low, mother-to-child transmission is the cause of chronic infection in more than one-third of cases. After exposure, the risk of chronic infection is the highest for newborns (90 %). The World Health Organization implemented a global immunization program in 1991, applied in France in 1994. A significant number of children are infected each year, however, and failure of postexposure prophylaxis is reported in 4-10 % of newborns...
January 11, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28088283/quantification-of-plasma-sulfatides-by-mass-spectrometry-utility-for-metachromatic-leukodystrophy
#11
Jennifer T Saville, Nicholas J C Smith, Janice M Fletcher, Maria Fuller
Impaired sulfatide catabolism is the primary biochemical insult in patients with the inherited neurodegenerative disease, metachromatic leukodystrophy (MLD), and sulfatide elevation in body fluids is useful in the diagnostic setting. Here we used mass spectrometry to quantify fourteen species of sulfatide, in addition to the deacetylated derivative, lyso-sulfatide, using high pressure liquid chromatography-electrospray ionisation-tandem mass spectrometry in both positive and negative ion mode. A single phase extraction of 0...
February 22, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28081558/should-new-zealand-introduce-nationwide-pulse-oximetry-screening-for-the-detection-of-critical-congenital-heart-disease-in-newborn-infants
#12
Elza Cloete, Thomas L Gentles, Jane M Alsweiler, Lesley A Dixon, Dianne R Webster, Deborah L Rowe, Frank H Bloomfield
No abstract text is available yet for this article.
January 13, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28079055/intestinal-microbiota-as-a-tetrahydrobiopterin-exogenous-source-in-hph-1-mice
#13
Jaques Belik, Yulia Shifrin, Erland Arning, Teodoro Bottiglieri, Jingyi Pan, Michelle C Daigneault, Emma Allen-Vercoe
Tetrahydrobiopterin (BH4) is a cofactor of a number of regulatory enzymes. Although there are no known BH4 exogenous sources, the tissue content of this biopterin increases with age in GTP cyclohydrolase 1-deficient hyperphenylalaninemia-1 (hph-1) mice. Since certain bacteria are known to generate BH4, we hypothesize that generation of this biopterin by the intestinal microbiota contributes to its tissue increase in hph-1 adult mice. The goal of this study was to comparatively evaluate hph-1 mice and wild-type C57Bl/6 controls for the presence of intestinal BH4-producing bacteria...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28078493/false-positive-newborn-screen-using-the-beutler-spot-assay-for-galactosemia-in-glucose-6-phosphate-dehydrogenase-deficiency
#14
Grace Stuhrman, Stefanie J Perez Juanazo, Kea Crivelly, Jennifer Smith, Hans Andersson, Eva Morava
Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology...
January 12, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28077182/functional-tricuspid-stenosis-a-rare-presentation-of-suspected-rhabdomyoma-as-congenital-cyanotic-heart-disease
#15
Anishkumar Nair, Gopalan Nair Rajesh, Chakanalil Govindan Sajeev
Cardiac tumours in newborns are often asymptomatic and can be sporadically detected on routine screening unless they result in intractable arrhythmias or haemodynamically significant obstructions causing heart failure. Their presentation as a cause of congenital cyanosis is never anticipated. We report a rare case of a newborn presenting with congenital cyanosis consequent to suspected cardiac rhabdomyoma causing tricuspid inflow obstruction. Our experience with this patient with two large cardiac masses illustrates the significance of its inclusion in the differential diagnosis of perinatal cyanosis, as early detection and surgical management might be the only lifesaving options, if performed well in time...
January 12, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28076344/qualitative-aspects-of-the-process-of-neonatal-hearing-screening-program-in-mexico-evaluated-from-the-parental-perspective
#16
Maria Del Consuelo Martínez Wbaldo, María de Los Ángeles Torres Lagunas
INTRODUCTION: The Universal Newborn Hearing Screening Program in Mexico began in 2010. Its results, published in 2013 by the National Council for the Development and Inclusion of Persons with Disabilities (CONADIS), report low coverage and, currently, there is a dearth of information about its activities. This study describes the process of the program from the epistemological perspective of women whose children participated in the program, evaluating it under the sustenance of the constructivist-respondent model in search of aspects that could help explain its results...
December 12, 2016: Medwave
https://www.readbyqxmd.com/read/28072965/-development-of-newborn-screening-for-severe-combined-immunodeficiency
#17
B J Sun, J Q Sun
No abstract text is available yet for this article.
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28071971/neuropsychological-implications-of-cobalamin-c-cblc-disease-in-hispanic-children-detected-through-newborn-screening
#18
Ashley M Whitaker, Nina Hattiangadi Thomas, Lauren S Krivitzky, Can H Ficicioglu
Cobalamin C (CblC) disease is the most common inborn error of cobalamin metabolism and recent data has indicated a higher prevalence among children of Hispanic heritage in particular. The purpose of this study was to (a) describe the neuropsychological characteristics of a pilot sample of Hispanic children with CblC disease and (b) explore potential differences in outcome based on underlying genetic mutation(s) and biochemical levels. Six Hispanic children (ages 2-10) diagnosed with CblC disease through newborn screening (NBS) underwent neuropsychological evaluation with a bilingual examiner...
January 10, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/28071585/newborn-bilirubin-screening-for-preventing-severe-hyperbilirubinemia-and-bilirubin-encephalopathy-a-rapid-review
#19
Kalpana Bhardwaj, Tiffany Locke, Anne Biringer, Allyson Booth, Elizabeth Kathleen Darling, Shelley Dougan, Jane Harrison, Stephen Hill, Ana Johnson, Susan Makin, Beth Potter, Thierry Lacaze-Masmonteil, Julian Little
: hyperbilirubinemia [2], every newborn should be assessed for the risk of developing severe hyperbilirubinemia with the help of predischarge total serum bilirubin or transcutaneous bilirubin measurements and/or assessments of clinical risk factors. The aim of this rapid review is 1) to review the evidence for 1) predicting and preventing severe hyperbilirubinemia and bilirubin encephalopathy, 2) determining the efficacy of home/community treatments (home phototherapy) in the prevention of severe hyperbilirubinemia, and 3) non-invasive/transcutaneous methods for estimating serum bilirubin level...
January 10, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28068510/current-knowledge-and-priorities-for-future-research-in-late-effects-after-hematopoietic-stem-cell-transplantation-hct-for-severe-combined-immunodeficiency-patients-a-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international
#20
REVIEW
Jennifer Heimall, Jennifer Puck, Rebecca Buckley, Thomas A Fleisher, Andrew R Gennery, Benedicte Neven, Mary Slatter, Elie Haddad, Luigi D Notarangelo, K Scott Baker, Andrew C Dietz, Christine Duncan, Michael A Pulsipher, Mort J Cowan
Severe combined immunodeficiency (SCID) is 1 of the most common indications for pediatric hematopoietic cell transplantation (HCT) in patients with primary immunodeficiency. Historically, SCID was diagnosed in infants who presented with opportunistic infections within the first year of life. With newborn screening (NBS) for SCID in most of the United States, the majority of infants with SCID are now diagnosed and treated in the first 3.5 months of life; however, in the rest of the world, the lack of NBS means that most infants with SCID still present with infections...
January 6, 2017: Biology of Blood and Marrow Transplantation
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