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Newborn Screening

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https://www.readbyqxmd.com/read/28213577/economic-evaluation-of-universal-prenatal-hiv-screening-compared-with-current-at-risk-policy-in-a-very-low-prevalence-country
#1
Michal Chowers, Oren Shavit
OBJECTIVES: Our objective was to economically evaluate universal HIV prenatal screening in Israel, a very low prevalence country (0.1%), compared with the current policy of testing only women belonging to high-risk (HR) groups. DESIGN: A cost-effectiveness analytical model was constructed. Life expectancies, direct medical costs and utility weights of an HIV-positive newborn and a healthy newborn were derived from the literature. Screening was assessed using fourth-generation combo tests...
March 2017: Sexually Transmitted Infections
https://www.readbyqxmd.com/read/28212589/a-multicenter-initiative-for-critical-congenital-heart-disease-newborn-screening-in-texas-neonatal-intensive-care-units
#2
Alice Gong, Charleta Guillory, Liza Creel, Judith Ellen Livingtson, Tiffany M McKee-Garrett, Regine Fortunov
Objective The objective of this study was to implement a strategy for critical congenital heart disease (CCHD) newborn screening in the neonatal intensive care unit (NICU). Design A NICU-specific curriculum, screening algorithm, slide presentations, and templates of orders, policies, and procedures were developed into a toolkit for training NICU personnel. Screening was conducted on first and second screen pre- and postductal oxygen saturations (SpO2) on newborns admitted or transferred to the NICU. Results We trained 347 NICU personnel in 13 Texas hospitals, representing rural, suburban, and metropolitan settings...
February 17, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28211552/incidence-of-postpartum-depression-and-couple-relationship-quality
#3
Aleksandra Małus, Justyna Szyluk, Beata Galińska-Skok, Beata Konarzewska
OBJECTIVES: The childbirth constitutes a significant event in a woman's life and in the marital/ couple dyad. The changes which follow childbirth require re-organization of previous coping styles and development of new methods of adaptation, which proves difficult. The current study evaluated to what extent the development of postpartum depression symptoms in new mothers was associated with their level of satisfaction in marital relationship. METHODS: The study included 100 women in their first month after delivery...
December 23, 2016: Psychiatria Polska
https://www.readbyqxmd.com/read/28209771/hearing-loss-in-children-with-asymptomatic-congenital-cytomegalovirus-infection
#4
Tatiana M Lanzieri, Winnie Chung, Marily Flores, Peggy Blum, A Chantal Caviness, Stephanie R Bialek, Scott D Grosse, Jerry A Miller, Gail Demmler-Harrison
OBJECTIVES: To assess the prevalence, characteristics, and risk of sensorineural hearing loss (SNHL) in children with congenital cytomegalovirus infection identified through hospital-based newborn screening who were asymptomatic at birth compared with uninfected children. METHODS: We included 92 case-patients and 51 controls assessed by using auditory brainstem response and behavioral audiometry. We used Kaplan-Meier survival analysis to estimate the prevalence of SNHL, defined as ≥25 dB hearing level at any frequency and Cox proportional hazards regression analyses to compare SNHL risk between groups...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28209627/characterization-of-a-blood-spot-creatine-kinase-skeletal-muscle-isoform-immunoassay-for-high-throughput-newborn-screening-of-duchenne-muscular-dystrophy
#5
Stuart J Moat, Teemu Korpimäki, Petra Furu, Harri Hakala, Hanna Polari, Liisa Meriö, Pauliina Mäkinen, Ian Weeks
BACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD are nonspecific because measured CK enzyme activity is attributable to 3 isoenzyme forms of CK (CK-MM, CK-MB, and CK-BB) and it is the CK-MM isoform that is found predominantly in skeletal muscle. CK-MM is increased in boys with DMD owing to muscle damage...
February 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28206994/defining-the-limitations-of-transcutaneous-bilirubin-measurement-in-late-preterm-newborns
#6
K L Fine, W A Carey, J A W Schuster, S C Bryant, W J Cook, B S Karon
OBJECTIVE: The objective of this study is to determine the impact of postnatal age on the bias between transcutaneous (TcB) and total serum bilirubin (TSB), and evaluate a TcB screening protocol. STUDY DESIGN: Preterm and term infants had paired TcB and TSB performed on days 1 to 3 of life; a subset of preterm infants had measurements on days 4 to 7. Sensitivity and specificity of TcB (plotted on an age-specific TSB nomogram) for prediction of high-intermediate (HIR) or high-risk TSB were calculated...
February 16, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28202792/towards-a-new-strategy-for-the-diagnosis-of-congenital-trypanosoma-cruzi-infection
#7
Alba Abras, Carmen Muñoz, Cristina Ballart, Pere Berenguer, Teresa Llovet, Mercedes Herrero, Silvia Tebar, María-Jesús Pinazo, Elizabeth Posada, Carmen Martí, Victoria Fumadó, Jordi Bosch, Oriol Coll, Teresa Juncosa, Gemma Ginovart, Josep Armengol, Joaquim Gascón, Montserrat Portús, Montserrat Gállego
The immigration of Latin American women of childbearing age has spread the congenital transmission of Chagas disease to non-endemic areas, and the disease is now a worldwide problem. Some European health authorities have implemented screening programs to prevent vertical transmission, but the lack of a uniform protocol calls for the urgent establishment of a new strategy, common for all laboratories. Our aims were (i) to analyze the trend of passive IgG antibodies in the newborn by means of five serological tests for the diagnosis and follow-up of congenital Trypanosoma cruzi infection, (ii) to assess the utility of these techniques for diagnosing a congenital transmission, and (iii) to propose a strategy for a prompt, efficient and cost-effective diagnosis of T...
February 15, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28196920/liquid-chromatography-tandem-mass-spectrometry-assay-of-leukocyte-acid-%C3%AE-glucosidase-for-post-newborn-screening-evaluation-of-pompe-disease
#8
Na Lin, Jingyu Huang, Sara Violante, Joseph J Orsini, Michele Caggana, Erin E Hughes, Colleen Stevens, Lisa DiAntonio, Hsuan Chieh Liao, Xinying Hong, Farideh Ghomashchi, Arun Babu Kumar, Hui Zhou, Ruth Kornreich, Melissa Wasserstein, Michael H Gelb, Chunli Yu
BACKGROUND: Pompe disease (PD) is the first lysosomal storage disorder to be added to the Recommended Uniform Screening Panel for newborn screening. This condition has a broad phenotypic spectrum, ranging from an infantile form (IOPD), with severe morbidity and mortality in infancy, to a late-onset form (LOPD) with variable onset and progressive weakness and respiratory failure. Because the prognosis and treatment options are different for IOPD and LOPD, it is important to accurately determine an individual's phenotype...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28196298/human-to-human-transmission-of-brucella-a-systematic-review
#9
REVIEW
Felipe F Tuon, Regina B Gondolfo, Natacha Cerchiari
OBJECTIVE: The most common form of transmitting human brucellosis is through contaminated food or direct contact with infected animals. Human-to-human transmission (HHT) has been described as isolated case reports. The aim of this systematic review was to describe all cases of HHT of human brucellosis reported in the medical literature. METHODS: A literature search was conducted using PubMed, Scopus and Scielo databases using specific search terms published until March 2016...
February 14, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28196233/concerns-over-newborn-screening
#10
Jeff Lyon
No abstract text is available yet for this article.
February 14, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28194693/standards-of-admission-capillary-blood-glucose-levels-in-cesarean-born-neonates
#11
Tatiana Smolkin, Irena Ulanovsky, Pnina Carasso, Imad R Makhoul
BACKGROUND: Neonatal hypoglycemia (NH) and cutoffs remain undefined. Our center screens all cesareandelivered (CD) neonates for NH. We sought to define standards of admission capillary blood glucose levels (ACBGLs) in CD neonates who were at the lowest risk for hypoglycemia. METHODS: Of 4947 neonates, 519 met all 14 inclusion criteria. These highly-selected neonates were apparently the healthiest, least-stressed, earliest to be admitted to nursery and at lowest-risk for hypoglycemia...
February 14, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28194615/how-we-manage-adenosine-deaminase-deficient-severe-combined-immune-deficiency-ada-scid
#12
Donald B Kohn, H Bobby Gaspar
Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of cases of human SCID. From what was once a uniformly fatal disease, the prognosis for infants with ADA SCID has improved greatly based on the development of multiple therapeutic options, coupled with more frequent early diagnosis due to implementation of newborn screening for SCID. We review the various treatment approaches for ADA SCID including allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen-matched sibling or family member or from a matched unrelated donor or a haplo-identical donor, autologous HSCT with gene correction of the hematopoietic stem cells (gene therapy-GT), and enzyme replacement therapy (ERT) with polyethylene glycol-conjugated adenosine deaminase...
February 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28193245/early-disease-progression-of-hurler-syndrome
#13
Bridget T Kiely, Jennifer L Kohler, Hannah Y Coletti, Michele D Poe, Maria L Escolar
BACKGROUND: Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the attenuated phenotypes (Hurler-Scheie and Scheie syndromes). Given that the optimal treatment differs between Hurler syndrome and the attenuated MPS I phenotypes, the absence of a reliable prognostic biomarker complicates clinical decision making for infants diagnosed through newborn screening...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28190699/correcting-false-positive-medium-chain-acyl-coa-dehydrogenase-deficiency-results-from-newborn-screening-synthesis-purification-and-standardization-of-branched-chain-c8-acylcarnitines-for-use-in-their-selective-and-accurate-absolute-quantitation-by-uhplc-ms
#14
Paul E Minkler, Maria S K Stoll, Stephen T Ingalls, Charles L Hoppel
While selectively quantifying acylcarnitines in thousands of patient samples using UHPLC-MS/MS, we have occasionally observed unidentified branched-chain C8 acylcarnitines. Such observations are not possible using tandem MS methods, which generate pseudo-quantitative acylcarnitine "profiles". Since these "profiles" select for mass alone, they cannot distinguish authentic signal from isobaric and isomeric interferences. For example, some of the samples containing branched-chain C8 acylcarnitines were, in fact, expanded newborn screening false positive "profiles" for medium-chain acyl-CoA dehydrogenase deficiency (MCADD)...
February 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28184323/congenital-tuberculosis-a-newborn-case-report-with-rare-manifestation
#15
Hadi Khorsand Zak, Shahin Mafinezhad, Ali Haghbin
INTRODUCTION: Congenital tuberculosis is an infrequently encountered condition and only 300 cases were reported in the literature till 1989. There are no specific signs and symptoms pathognomonic for congenital TB, and the devastating consequences in the absence of early therapy signify the importance of early diagnosis and treatment during the neonatal period. CASE PRESENTATION: In this paper we report on a case of congenital TB in a newborn who was admitted to our clinic with seizures and intraventricular hemorrhage (IVH) due to TB meningitis...
October 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28180027/newborn-screening-for-lysosomal-storage-disorders
#16
REVIEW
Roy W A Peake, Olaf A Bodamer
Newborn screening is one of the most important public health initiatives to date, focusing on the identification of presymptomatic newborn infants with treatable conditions to reduce morbidity and mortality. The number of screening conditions continues to expand due to advances in screening technologies and the development of novel therapies. Consequently, some of the lysosomal storage disorders are now considered as candidates for newborn screening, although many challenges including identification of late-onset phenotypes remain...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28179485/variation-in-sepsis-evaluation-across-a-national-network-of-nurseries
#17
Sagori Mukhopadhyay, James A Taylor, Isabelle Von Kohorn, Valerie Flaherman, Anthony E Burgos, Carrie A Phillipi, Nui Dhepyasuwan, Elizabeth King, Miren Dhudasia, Karen M Puopolo
BACKGROUND AND OBJECTIVES: The extent to which clinicians use currently available guidelines for early-onset sepsis (EOS) screening has not been described. The Better Outcomes through Research for Newborns network represents 97 nurseries in 34 states across the United States. The objective of this study was to describe EOS risk management strategies across a national sample of newborn nurseries. METHODS: A Web-based survey was sent to each Better Outcomes through Research for Newborns network nursery site representative...
February 8, 2017: Pediatrics
https://www.readbyqxmd.com/read/28178172/effects-of-combined-oral-sucrose-and-nonnutritive-sucking-nns-on-procedural-pain-of-nicu-newborns-2001-to-2016-a-prisma-compliant-systematic-review-and-meta-analysis
#18
Yi Liu, Xinchun Huang, Biru Luo, Wentao Peng
BACKGROUND: Both oral sucrose (OS) and nonnutritive sucking (NNS) are effective nonpharmacological methods to alleviate procedures pain in neonatal intensive care unit (NICU) newborns when they were used alone, but the combined effect of OS+NNS remains controversial. So, we conducted this study to evaluate the efficiency of NNS combined with oral sucrose on pain relief in NICU newborns undergoing painful procedures. METHODS: We searched PubMed, Ovid (Medline), Embase (Medline), Cochrane Central Library, and other resources such as Google Scholar, bibliographies of included literatures for all available articles...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28173647/-analysis-of-newborn-screening-for-galactosemia-and-genotype-phenotype-of-confirmed-galatosemia-cases
#19
R L Yang, F Tong, F Hong, G L Qian, D W Wu, Z Y Zhao
Objective: To investigate the prevalence of galactosemia(GAL), and the characteristics of genotype and phenotype of newborns who were confirmed with GAL in newborn screening in Zhejiang province. Method: The number of all live births, newborn screened infants and all clinical data of confirmed newborns with GAL from October 2013 to March 2015 were retrospectively analyzed by reviewing the data of Zhejiang Province screening center database. And the characteristics of genes and the clinical data of GAL cases who were confirmed by correlative gene test and enzyme activity measurement were analyzed...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28171806/bedside-rop-screening-and-telemedicine-interpretation-integrated-to-a-neonatal-transport-system-economic-aspects-and-return-on-investment-analysis
#20
Gábor Kovács, Zsolt Somogyvári, Erika Maka, László Nagyjánosi
BACKGROUND AND AIM: Peter Cerny Ambulance Service - Premature Eye Rescue Program (PCA-PERP) uses digital retinal imaging (DRI) with remote interpretation in bedside ROP screening, which has advantages over binocular indirect ophthalmoscopy (BIO) in screening of premature newborns. We aimed to demonstrate that PCA-PERP provides good value for the money and to model the cost ramifications of a similar newly launched system. METHODS: As DRI was demonstrated to have high diagnostic performance, only the costs of bedside DRI-based screening were compared to those of traditional transport and BIO-based screening (cost-minimization analysis)...
February 4, 2017: Early Human Development
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