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Newborn Screening

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https://www.readbyqxmd.com/read/29147675/newborn-screening-for-sickle-cell-disease-in-st-vincent-and-the-grenadines-results-of-a-pilot-newborn-screening-program
#1
Shelly-Ann Williams, Beneka Browne-Ferdinand, Ynolde Smart, Kristen Morella, Susan G Reed, Julie Kanter
Objective: To pilot a newborn screening program for sickle cell disease (SCD) in St. Vincent and the Grenadines using a novel partnership method to determine the feasibility of a universal newborn screening program in this country. Methods: A prospective study of mothers and their newborns was conducted between January 1, 2015, and November 1, 2015, at the country's main hospital. Mothers of infants born at this hospital were offered screening for SCD for their infants. If accepted, the newborn's heel-stick blood specimen was obtained and mailed to the South Carolina Department of Health and Environmental Control Newborn Screening Laboratory for testing...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/29145300/cost-effectiveness-analysis-of-neonatal-screening-of-critical-congenital-heart-defects-in-china
#2
Ruoyan Gai Tobe, Gerard R Martin, Fuhai Li, Akinori Moriichi, Bin Wu, Rintaro Mori
BACKGROUND: Pulse oximetry screening is a highly accurate tool for the early detection of critical congenital heart disease (CCHD) in newborn infants. As the technique is simple, noninvasive, and inexpensive, it has potentially significant benefits for developing countries. The aim of this study is to provide information for future clinical and health policy decisions by assessing the cost-effectiveness of CCHD screening in China. METHODS AND FINDINGS: We developed a cohort model to evaluate the cost-effectiveness of screening all Chinese newborns annually using 3 possible screening options compared to no intervention: pulse oximetry alone, clinical assessment alone, and pulse oximetry as an adjunct to clinical assessment...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29144277/newborn-screening-for-spinal-muscular-atrophy-and-lysosomal-storage-disorders-takes-advantage-of-novel-therapies
#3
EDITORIAL
Hans C Andersson
No abstract text is available yet for this article.
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#4
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29141590/health-nutrition-and-development-of-children-born-preterm-and-low-birth-weight-in-rural-rwanda-a-cross-sectional-study
#5
Catherine M Kirk, Jean Claude Uwamungu, Kim Wilson, Bethany L Hedt-Gauthier, Neo Tapela, Peter Niyigena, Christian Rusangwa, Merab Nyishime, Evrard Nahimana, Fulgence Nkikabahizi, Christine Mutaganzwa, Eric Ngabireyimana, Francis Mutabazi, Hema Magge
BACKGROUND: As care for preterm and low birth weight (LBW) infants improves in resource-limited settings, more infants are surviving the neonatal period. Preterm and (LBW) infants are at high-risk of nutritional and medical comorbidities, yet little is known about their developmental outcomes in low-income countries. This study evaluated the health, nutritional, and developmental status of preterm/LBW children at ages 1-3 years in Rwanda. METHODS: Cross-sectional study of preterm/LBW infants discharged between October 2011 and October 2013 from a hospital neonatal unit in rural Rwanda...
November 15, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29136159/associations-between-maternal-lifestyle-factors-and-neonatal-body-composition-in-the-screening-for-pregnancy-endpoints-cork-cohort-study
#6
Darren L Dahly, Xia Li, Hazel A Smith, Ali S Khashan, Deirdre M Murray, Mairead E Kiely, Jonathan O'B Hourihane, Fergus P McCarthy, Louise C Kenny, Patricia M Kearney
Background: Neonatal body composition likely mediates fetal influences on life long chronic disease risk. A better understanding of how maternal lifestyle is related to newborn body composition could thus inform intervention efforts. Methods: Using Cork participant data (n = 1754) from the Screening for Pregnancy Endpoints (SCOPE) cohort study [ECM5(10)05/02/08], we estimated how pre-pregnancy body size, gestational weight gain, exercise, alcohol, smoking and diet were related to neonatal fat and fat-free mass, as well as length and gestational age at birth, using quantile regression...
November 10, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29130604/expanding-the-phenotypic-spectrum-of-tp63-related-disorders-including-the-first-set-of-monozygotic-twins
#7
Tara Wenger, Dong Li, Margaret H Harr, Wen-Hann Tan, Renata Pellegrino, Zornitza Stark, Hakon Hakonarson, Elizabeth J Bhoj
Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130077/study-of-the-factors-leading-to-fetal-and-neonatal-dysthyroidism-in-children-of-patients-with-graves-disease
#8
Maïa Banigé, Candice Estellat, Valerie Biran, Luc Desfrere, Valerie Champion, Alexandra Benachi, Yves Ville, Marc Dommergues, Pierre-Henri Jarreau, Mostafa Mokhtari, Claire Boithias, Frederic Brioude, Laurent Mandelbrot, Pierre-François Ceccaldi, Delphine Mitanchez, Michel Polak, Dominique Luton
Context: Neonatal hyperthyroidism was first described in 1912 and in 1964 was shown to be linked to transplacental passage of maternal antibodies. Few multicenter studies have described the perinatal factors leading to fetal and neonatal dysthyroidism. Objective: To show how fetal dysthyroidism (FD) and neonatal dysthyroidism (ND) can be predicted from perinatal variables, in particular, the levels of anti-thyrotropin receptor antibodies (TRAbs) circulating in the mother and child...
June 2017: J Endocr Soc
https://www.readbyqxmd.com/read/29129472/effectiveness-of-intrapartum-antibiotic-prophylaxis-for-early-onset-group-b-streptococcal-infection-an-integrative-review
#9
REVIEW
Kathryn Braye, John Ferguson, Deborah Davis, Christine Catling, Amy Monk, Maralyn Foureur
BACKGROUND: In some countries, up to 30% of women are exposed to intrapartum antibiotic prophylaxis for prevention of early-onset group B Streptococcal infection. Intrapartum antibiotic prophylaxis aims to reduce the risk of neonatal morbidity and mortality from this infection. The intervention may adversely affect non-pathogenic bacteria which are passed to the newborn during birth and are considered important in optimising health. Since many women are offered intrapartum antibiotic prophylaxis, effectiveness and implications of this intervention need to be established...
November 9, 2017: Women and Birth: Journal of the Australian College of Midwives
https://www.readbyqxmd.com/read/29124685/mitochondrial-trifunctional-protein-deficiency-severe-cardiomyopathy-and-cardiac-transplantation
#10
C Bursle, R Weintraub, C Ward, R Justo, J Cardinal, D Coman
We describe mitochondrial trifunctional protein deficiency (MTPD) in two male siblings who presented with severe cardiomyopathy in infancy. The first sibling presented in severe cardiac failure at 6 months of age and succumbed soon after. The second sibling came to attention after newborn screening identified a possible fatty acid oxidation defect. Dietary therapy and carnitine supplementation commenced in the neonatal period. Despite this the second child required cardiac transplantation at 3 years of age after a sudden and rapid decline in cardiac function...
November 10, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29124052/thirty-years-of-sweat-chloride-testing-at-one-referral-center
#11
Alethéa Guimarães Faria, Fernando Augusto Lima Marson, Carla Cristina Souza Gomez, Maria de Fátima Servidoni, Antônio Fernando Ribeiro, José Dirceu Ribeiro
Objective: To conduct a descriptive analysis of the sweat test (ST), associating ST results with epidemiological data, CFTR (cystic fibrosis transmembrane conductance regulator) mutations and reasons to indicate the ST, as well as correlating sweat sodium and sweat chloride concentrations in subjects. Methods: Retrospective survey and descriptive analysis of 5,721 ST at a university referral center. Results: The inclusion of the subjects was based on clinical data related with cystic fibrosis (CF) phenotype...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29122915/elevated-lung-clearance-index-in-infants-with-cystic-fibrosis-shortly-after-birth
#12
Elisabeth Kieninger, Sophie Yammine, Insa Korten, Pinelopi Anagnostopoulou, Florian Singer, Urs Frey, Anne Mornand, Maura Zanolari, Isabelle Rochat, Daniel Trachsel, Dominik Mueller-Suter, Alexander Moeller, Carmen Casaulta, Philipp Latzin
It is not known at what age lung function impairment may arise in children with cystic fibrosis (CF). We assessed lung function shortly after birth in infants with CF diagnosed by newborn screening.We performed infant lung function measurements in a prospective cohort of infants with CF and healthy controls. We assessed lung clearance index (LCI), functional residual capacity (FRC) and tidal breathing parameters. The primary outcome was prevalence and severity of abnormal lung function (±1.64 z-scores) in CF...
November 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29122914/pulmonary-function-deficits-in-newborn-screened-infants-with-cystic-fibrosis-managed-with-standard-uk-care-are-mild-and-transient
#13
Gwyneth Davies, Janet Stocks, Lena P Thia, Ah-Fong Hoo, Andrew Bush, Paul Aurora, Lucy Brennan, Simon Lee, Sooky Lum, Philippa Cottam, Joanne Miles, Jane Chudleigh, Jane Kirkby, Ian M Balfour-Lynn, Siobhán B Carr, Colin Wallis, Hilary Wyatt, Angie Wade
With the advent of novel designer molecules for cystic fibrosis (CF) treatment, there is huge need for early-life clinical trial outcomes, such as infant lung function (ILF). We investigated the degree and tracking of ILF abnormality during the first 2 years of life in CF newborn screened infants.Forced expiratory volume in 0.5 s (FEV0.5), lung clearance index (LCI) and plethysmographic functional residual capacity were measured at ∼3 months, 1 year and 2 years in 62 infants with CF and 34 controls...
November 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29121687/screening-for-type-1-diabetes-risk-in-newborns-the-freder1k-pilot-study-in-saxony
#14
Angela Hommel, Florian Haupt, Petrina Delivani, Christiane Winkler, Marina Stopsack, Pauline Wimberger, Katharina Nitzsche, Sophie Heinke, Andrea Naeke, Uta Ceglarek, Joachim Thiery, Renate Bergert, Daniel Stadthaus, Katrin Groeger, Georg Heubner, Ursula Schramm, Ullrich Dziambor, Agnes Zirkel, Wieland Kiess, Iris Mueller, Karin Lange, Reinhard Berner, Ezio Bonifacio, Anette-Gabriele Ziegler
An increased risk for type 1 diabetes can be identified using genetic and immune markers. The Freder1k study introduces genetic testing for type 1 diabetes risk within the context of the newborn screening in order to identify newborns with a high risk to develop type 1 diabetes for follow-up testing of early stage type 1 diabetes and for primary prevention trials. Consent for research-based genetic testing of type 1 diabetes risk is obtained with newborn screening. Increased risk is assessed using three single nucleotide polymorphisms for HLA DRB1*03 (DR3), HLA DRB1*04 (DR4), HLA DQB1*0302 (DQ8) alleles, and defined as 1...
November 9, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29120458/precision-newborn-screening-for-lysosomal-disorders
#15
Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, Lea Mott, Dawn S Peck, Stephanie L Nett, Jason S Eckerman, Jean M Lacey, Coleman T Turgeon, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Dietrich Matern, Lars Mørkrid, Piero Rinaldo
PurposeThe implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues.MethodsThe Kentucky Department for Public Health outsourced testing for mucopolysaccharidosis type I (MPS I) and Pompe disease, conditions recently added to the recommended uniform screening panel, plus Krabbe disease, which was added by legislative mandate...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29116590/detection-of-congenital-cytomegalovirus-in-newborns-using-nucleic-acid-amplification-techniques-and-its-public-health-implications
#16
REVIEW
Guoyu Liu, Rong Hai, Fenyong Liu
Human cytomegalovirus (HCMV), a herpesvirus, is an important human pathogen that causes asymptomatic infections in healthy or immunocompetent individuals but can lead to severe and potentially life-threatening complications in immune-immature individuals such as neonates or immune-compromised patients such as organ-transplant recipients and HIV-positive individuals. Congenital HCMV infection represents a significant public health issue and poses substantial healthcare and economic burden to society. This virus causes the most common viral congenital infection worldwide, and is the leading non-genetic cause of sensorineural hearing loss in children in developed countries...
October 2017: Virologica Sinica
https://www.readbyqxmd.com/read/29116556/newborn-screening-for-primary-immunodeficiency-diseases-history-current-and-future-practice
#17
Jovanka R King, Lennart Hammarström
The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious sequelae. Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity. Severe combined immunodeficiency (SCID) is one form of PID which is uniformly fatal without early, definitive therapy, and outcomes are significantly improved if infants are diagnosed and treated within the first few months of life...
November 8, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29113966/cystic-fibrosis-newborn-screening-outcome-of-infants-with-normal-sweat-tests
#18
Claire Edmondson, Christopher Grime, Ammani Prasad, Jacqui Cowlard, Chinedu E C Nwokoro, Gary Ruiz, Colin Wallis, Ian M Balfour-Lynn
Newborn babies positively screened for cystic fibrosis (CF) (high serum immunoreactive trypsin (IRT) with DNA analysis) are referred for a diagnostic sweat test, which may be normal (sweat chloride <30 mmol/L). Unless two gene mutations are identified during Newborn screening (NBS), the babies are discharged from follow-up. We wished to check that none had subsequently developed symptoms suggestive of CF. We retrospectively reviewed patient notes and contacted general practitioners of all babies with a negative sweat test, conducted in one of the four paediatric specialist CF centres in London, over the first 6 years of screening in South East England...
November 7, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29111448/next-generation-sequencing-as-a-follow-up-test-in-an-expanded-newborn-screening-programme
#19
Smon Andraz, Repic Lampret Barbka, Groselj Urh, Zerjav Tansek Mojca, Kovac Jernej, Perko Dasa, Bertok Sara, Battelino Tadej, Trebusak Podkrajsek Katarina
OBJECTIVES: Contrary to many western European countries, most south-eastern European countries do not have an expanded newborn screening (NBS) program using tandem mass spectrometry. This study would represent one of the first expanded NBS studies in south-eastern Europe and will enable the estimation of the incidences of IEM in Slovenia. We proposed an expanded NBS approach including next-generation sequencing (NGS) as a confirmational analysis. DESIGN & METHODS: We conducted a pilot study of expanded NBS for selected inborn errors of metabolism (IEM) in Slovenia including 10,048 NBS cards...
October 27, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/29106875/regional-differences-of-turkey-in-risk-factors-of-newborn-hearing-loss
#20
Ozlem Konukseven, Sule Kaya, Aydan Genc, Nuray Bayar Muluk, Figen Suren Basar, Gunay Kirkim, Ulku Tuncer, Erkan Karatas, Cigdem Topcu, Hilal Bolat, Ilknur Dincol
OBJECTIVE: The aim of this study was to discover Turkish regional differences in the risk factors of newborn hearing loss. METHOD: A multi-centered retrospective design was used. A total of 443 children, registered to the national newborn hearing screening programme, with bilateral hearing loss, from five different regions of Turkey, were evaluated in terms of the types of hearing loss, the degree of hearing loss, the types of risk factors, parental consanguinity, age at diagnosis and age of auditory intervention, respectively...
November 2017: International Journal of Pediatric Otorhinolaryngology
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