keyword
MENU ▼
Read by QxMD icon Read
search

Newborn Screening

keyword
https://www.readbyqxmd.com/read/28324009/whole-exome-sequencing-for-diagnosis-of-turner-syndrome-towards-next-generation-sequencing-and-newborn-screening
#1
David R Murdock, Frank X Donovan, Settara C Chandrasekharappa, Nicole Banks, Carolyn Bondy, Maximilian Muenke, Paul Kruszka
Context, Objectives: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in females and is not currently part of newborn screening. Diagnosis is often delayed resulting in missed crucial diagnostic and therapeutic opportunities. This study sought to determine if whole-exome sequencing (WES) as part of a potential newborn screening program could be used to diagnose TS. Design, Setting, Patients: Karyotype, chromosomal microarray, and WES were performed on women with TS (n=27) enrolled in the Personalized Genomic Research study at the National Institutes of Health...
January 24, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28315736/colorado-retinopathy-of-prematurity-screening-algorithm-co-rop-a-validation-study-at-a-tertiary-care-center
#2
Jason M Huang, Xihui Lin, Yu-Guang He, Jennifer H Cao
PURPOSE: The Colorado Retinopathy of Prematurity Screening Algorithm (CO-ROP) recommends screening for infants meeting the following criteria for retinopathy of prematurity (ROP): gestational age ≤30 weeks, birth weight of ≤1500 g, and net weight gain of ≤650 g between birth and 4 weeks of age. This study was performed to evaluate the validity of CO-ROP in a tertiary referral county hospital. METHODS: CO-ROP was used to retrospectively analyze the data from consecutive newborns screened for ROP using national screening guidelines at Parkland Hospital, Dallas, Texas, between April 1, 2009, to August 30, 2013...
March 15, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28315630/risk-factors-for-depressive-symptoms-in-early-postpartum-period-and-after-puerperium-are-they-the-same
#3
(no author information available yet)
OBJECTIVES: Correlation between the occurrence of postnatal depressive symptoms at 5 days and 6 weeks postpartum is well established. The objective of the study was to determine the influence of psychosocial and perinatal factors on the occurrence of postpartum depressive symptoms 2 to 5 days and 6 weeks after delivery. METHODS: 373 women in early postpartum (EPG) and 107 women 6 weeks after delivery (late postpartum group - LPG) completed a questionnaire including questions concerning mothers' characteristics, obstetric and neonatal complications during pregnancy, psychiatric factors and Edinburgh Postnatal Depression Scale (EPDS)...
November 19, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28314860/a-newborn-screening-method-for-cerebrotendinous-xanthomatosis-using-bile-alcohol-glucuronides-and-metabolite-ratios
#4
Frédéric M Vaz, Albert H Bootsma, Willem Kulik, Aad Verrips, Ron A Wevers, Peter C Schielen, Andrea E DeBarber, Hidde H Huidekoper
Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis where symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excellent candidate for newborn screening. We developed a new dried blood spot screening assay for this disorder based on different ratios between the accumulating cholestanetetrol glucuronide (tetrol) and specific bile acids/bile acid intermediates, without the need for derivatization...
March 17, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28302372/experiences-during-newborn-screening-for-glutaric-aciduria-type-1-diagnosis-treatment-genotype-phenotype-and-outcomes
#5
Fang-Chih Tsai, Han-Jui Lee, An-Guor Wang, Shu-Chen Hsieh, Yung-Hsiu Lu, Ming-Che Lee, Ju-Shan Pai, Tzu-Hung Chu, Chia-Feng Yang, Ting-Rong Hsu, Chih-Jou Lai, Ming-Tzu Tsai, Ping-Hsun Ho, Min-Chieh Lin, Ling-Yee Cheng, Ya-Chin Chuang, Dau-Ming Niu
BACKGROUND: Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting is lacking. This study describes Taiwan's largest newborn screening population to date. METHODS: Between 2001 and 2015, 1,490,636 newborns were screened for GA-1. Confirmatory examinations included the carnitine loading test. Confirmed patients were treated with a low lysine diet, carnitine, and high-energy intake during illness...
March 13, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#6
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28301411/retinal-phenotype-in-a-case-of-lchad-tfp-deficiency-with-late-stage-diagnosis
#7
Jacob A Knowles, Ioannis S Dimopoulos, Ian M MacDonald
PURPOSE: To report the retinal phenotype of a rare case of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)/trifunctional protein (TFP) deficiency diagnosed in his late 40s with ocular findings of diffuse chorioretinal atrophy and bilateral retinoschisis. METHODS: An acylcarnitine profile assay revealed LCHAD/TFP deficiency in a 45-year-old man with a history of high myopia, bilateral decreased vision, episodic rhabdomyolysis, and peripheral neuropathy. Ocular findings were evaluated with spectral domain optical coherence tomography (Spectralis OCT; Heidelberg Engineering, Heidelberg, Germany) and color fundus photography...
March 15, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28294365/prevalence-of-prenatal-alcohol-exposure-in-the-state-of-texas-as-assessed-by-phosphatidylethanol-in-newborn-dried-blood-spot-specimens
#8
Ludmila N Bakhireva, Janet Sharkis, Shikhar Shrestha, Tristan J Miranda-Sohrabji, Sonnie Williams, Rajesh C Miranda
BACKGROUND: While 2-5% of school-aged children in the U.S. are estimated to be affected by Fetal Alcohol Spectrum Disorders (FASD), the prevalence of prenatal alcohol exposure (PAE) might be substantially under-reported. Our objective was to systematically estimate the prevalence of PAE in Texas by measuring a direct ethanol metabolite, phosphatidylethanol (PEth), in 1,000 infant residual dried blood spots (irDBS) in the Texas Newborn Screening Repository. METHODS: All Public Health Regions were represented proportional to their 2014 birth rate (~0...
March 13, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28291720/congenital-cytomegalovirus-infection-in-pregnancy-and-the-neonate-consensus-recommendations-for-prevention-diagnosis-and-therapy
#9
REVIEW
William D Rawlinson, Suresh B Boppana, Karen B Fowler, David W Kimberlin, Tiziana Lazzarotto, Sophie Alain, Kate Daly, Sara Doutré, Laura Gibson, Michelle L Giles, Janelle Greenlee, Stuart T Hamilton, Gail J Harrison, Lisa Hui, Cheryl A Jones, Pamela Palasanthiran, Mark R Schleiss, Antonia W Shand, Wendy J van Zuylen
Congenital cytomegalovirus is the most frequent, yet under-recognised, infectious cause of newborn malformation in developed countries. Despite its clinical and public health importance, questions remain regarding the best diagnostic methods for identifying maternal and neonatal infection, and regarding optimal prevention and therapeutic strategies for infected mothers and neonates. The absence of guidelines impairs global efforts to decrease the effect of congenital cytomegalovirus. Data in the literature suggest that congenital cytomegalovirus infection remains a research priority, but data are yet to be translated into clinical practice...
March 10, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28289431/management-issues-of-congenital-adrenal-hyperplasia-during-the-transition-from-pediatric-to-adult-care
#10
REVIEW
Jin-Ho Choi, Han-Wook Yoo
Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers...
February 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28288144/thyroid-stimulating-hormone-levels-in-newborns-and-early-life-exposure-to-endocrine-disrupting-chemicals-analysis-of-three-european-mother-child-cohorts
#11
Marijke de Cock, Michiel R de Boer, Eva Govarts, Nina Iszatt, Lubica Palkovicova, Marja H Lamoree, Greet Schoeters, Merete Eggesbø, Tomas Trnovec, Juliette Legler, Margot van de Bor
BACKGROUND: Various studies report interactions between thyroid hormones and early life chemical exposure. Our objective was to analyse associations between markers of endocrine disrupting chemical exposure and thyroid function in newborns, determined in heel prick blood spots. METHODS: Three European mother-child cohorts (FLEHSI - Belgium, HUMIS - Norway, and the PCB cohort - Slovakia. Total n=1784) were pooled for the purpose of this study. Data on Thyroid Stimulating Hormone (TSH) was obtained from national neonatal screening registries, and cord plasma and/or breast milk was collected to determine exposure to various chemicals...
March 13, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28286848/brain-ultrasonography-findings-in-neonatal-seizure-a-cross-sectional-study
#12
Seyed Saeed Nabavi, Parinaz Partovi
INTRODUCTION: Screening of newborns with seizure, who have curable pathologic brain findings, might be able to improve their final outcome by accelerating treatment intervention. The present study aimed to evaluate the brain ultrasonography findings of newborns hospitalized with complaint of seizure. METHODS: The present cross-sectional study designed to evaluate brain ultrasonography findings of hospitalized newborns complaining seizure. Neonatal seizure was defined as presence of tonic, clonic, myoclonic, and subtle attacks in 1 - 28 day old newborns...
2017: Emergency (Tehran, Iran)
https://www.readbyqxmd.com/read/28285866/obstructed-infradiaphragmatic-total-anomalous-pulmonary-venous-return-in-a-13-day-old-infant-presenting-acutely-to-the-emergency-department-a-case-report
#13
Elizabeth A Siacunco, Garrett S Pacheco, Dale P Woolridge
BACKGROUND: Total anomalous pulmonary venous return (TAPVR) is an uncommon congenital heart defect. Obstructed forms are more severe, and typically present earlier in life, usually in the immediate newborn period, with symptoms of severe cyanosis and respiratory failure. CASE REPORT: A 13-day-old boy presented to the emergency department (ED) with respiratory extremis. He appeared cyanotic and limp, and was found to have significant hypoxia with oxygen saturation of 40%...
March 9, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28284388/neonatal-screening-for-inherited-metabolic-diseases-in-2016
#14
Judit Garcia Villoria, Sonia Pajares, Rosa María López, José Luis Marin, Antonia Ribes
The scope of newborn screening (NBS) programs is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the "field of Public Health." These interventions are aimed at early detection of asymptomatic children affected by certain diseases, with the objective to establish a definitive diagnosis and apply the proper treatment to prevent further complications and sequelae and ensure a better quality of life. The most significant event in the history of neonatal screening was the discovery of phenylketonuria in 1934...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28281093/maternal-acceptability-of-pulse-oximetry-screening-at-home-after-home-birth-or-very-early-discharge
#15
Ilona C Narayen, Adrian A Kaptein, Janine A Hogewoning, Nico A Blom, Arjan B Te Pas
The Netherlands has a unique perinatal healthcare system with a high rate of home births and very early discharge after delivery in hospital. Although we demonstrated that pulse oximetry (PO) screening for critical congenital heart disease is feasible in the Netherlands, it is unknown whether parents find the screening acceptable when performed in home birth setting. We assessed the acceptability of PO screening to mothers after screening in home setting. A questionnaire was sent electronically to mothers who gave birth and/or had postnatal care under supervision of a community midwife participating in the Pulse Oximetry Leiden Screening (POLS) study, a feasibility study of PO screening in the Dutch care system, performed in the Leiden region, the Netherlands...
March 9, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28279431/psychosocial-response-to-uncertain-newborn-screening-results-for-cystic-fibrosis
#16
Robin Z Hayeems, Fiona A Miller, Carolyn J Barg, Yvonne Bombard, June C Carroll, Karen Tam, Elizabeth Kerr, Pranesh Chakraborty, Beth K Potter, Sarah Patton, Jessica P Bytautas, Louise Taylor, Christine Davies, Jennifer Milburn, April Price, Tanja Gonska, Katherine Keenan, Felix Ratjen, Astrid Guttmann
OBJECTIVE: To explore the psychosocial implications of diagnostic uncertainty that result from inconclusive results generated by newborn bloodspot screening (NBS) for cystic fibrosis (CF). STUDY DESIGN: Using a mixed methods prospective cohort study of children who received NBS for CF, we compared psychosocial outcomes of parents whose children who received persistently inconclusive results with those whose children received true positive or screen-negative results...
March 6, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28278509/evaluation-of-the-automated-qiasymphony-sp-as-workflow-for-cytomegalovirus-dna-extraction-and-amplification-from-dried-blood-spots
#17
Daniela Spalletti-Cernia, Sara Barbato, Rosanna Sorrentino, Luca Vallefuoco, Caterina Rocco, Pasquale Di Costanzo, Antonella Giannattasio, Francesco Raimondi, Claudia Mazzarella, Roberta De Mattia, Giuseppe Portella
OBJECTIVE: Human cytomegalovirus (CMV) can be considered the most important agent of congenital infection. Long-term sequelae of congenital infection occur in about 15% of infants asymptomatic at birth. To avoid long-term sequelae or to reduce their burden, it is necessary to identify infected children for early interventions. CMV DNA can be detected in dried blood spots (DBSs). DBSs have been used in several studies for the retrospective diagnosis of congenital CMV (CCMV). It has been proposed to use DBSs for the newborn screening of CMV infection; however, manual methods are not suitable for newborn screening of CCMV...
March 10, 2017: Intervirology
https://www.readbyqxmd.com/read/28277305/current-genetic-testing-tools-in-neonatal-medicine
#18
REVIEW
Seema R Lalani
With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, healthcare providers must have a sufficient knowledge base to both recognize and evaluate genetic diseases in the neonatal period. Genetic assessment has become an essential aspect of medicine, and professionals need to know when genetic evaluation is indispensable. Much progress has been made in recent years in utilizing massively parallel sequencing for rapid diagnosis of genetic conditions in neonates...
September 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28274233/newborn-screening-for-tyrosinemia-type-1-using-succinylacetone-a-systematic-review-of-test-accuracy
#19
REVIEW
Chris Stinton, Julia Geppert, Karoline Freeman, Aileen Clarke, Samantha Johnson, Hannah Fraser, Paul Sutcliffe, Sian Taylor-Phillips
BACKGROUND: Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved outcomes; some studies suggest better outcomes when treatment begins at an asymptomatic stage. Newborn screening allows for earlier identification, but there is uncertainty regarding the test accuracy of the current method: succinylacetone measurement in dried blood spots using tandem mass spectrometry...
March 9, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28273705/-genetic-analysis-of-tpo-duox2-and-duoxa2-genes-in-children-with-permanent-congenital-hypothyroidism-suspected-dyshormonogenesis
#20
Y L Huang, M Y Tan, X Jiang, B Li, Q Y Chen, X F Jia, C F Tang, J L Liu, L Liu
Objective: To explore the TPO, DUOX2 and DUOXA2 genotypes and phenotypes of children with permanent congenital hypothyroidism(PCH) suspected dyshormonogenesis in Guangzhou, identified and treated at Guangzhou Newborn Screening Center. Six of them were born between 2011 and 2012. Method: Retrospectively analyzed the clinical data of 9 children with PCH suspected dyshormonogenesis. Genetic analysis of TPO, DUOX2 and DUOXA2 genes were performed with Sanger sequencing. Result: Of the 9 patients, four were identified variants in TPO gene including three cases with biallelic variants and one case with monoallelic variant...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
keyword
keyword
2466
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"