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Newborn Screening

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https://www.readbyqxmd.com/read/27911391/a-murine-model-of-group-b-streptococcus-vaginal-colonization
#1
Kathryn A Patras, Kelly S Doran
Streptococcus agalactiae (group B Streptococcus, GBS), is a Gram-positive, asymptomatic colonizer of the human gastrointestinal tract and vaginal tract of 10 - 30% of adults. In immune-compromised individuals, including neonates, pregnant women, and the elderly, GBS may switch to an invasive pathogen causing sepsis, arthritis, pneumonia, and meningitis. Because GBS is a leading bacterial pathogen of neonates, current prophylaxis is comprised of late gestation screening for GBS vaginal colonization and subsequent peripartum antibiotic treatment of GBS-positive mothers...
November 16, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27909691/6q24-transient-neonatal-diabetes-how-to-manage-while-waiting-for-genetic-results
#2
Julie Fudvoye, Khaldoun Farhat, Virginie De Halleux, Corina Ramona Nicolescu
Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide)...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27906195/congenital-hypothyroidism-with-delayed-thyroid-stimulating-hormone-elevation-in-premature-infants-born-at-less-than-30-weeks-gestation
#3
D C Kaluarachchi, T T Colaizy, L M Pesce, M Tansey, J M Klein
OBJECTIVE: Congenital hypothyroidism (CH) with delayed thyroid-stimulating hormone (TSH) elevation is a common form of thyroid dysfunction among premature infants. Routine newborn screening (NBS) may miss infants with CH with delayed TSH elevation. The objective of the study is to determine the prevalence of CH with delayed TSH elevation in premature infants and to identify associated risk factors. STUDY DESIGN: Retrospective analysis of serum thyroid function screening (TFS) at day of life 30 in premature infants <30 weeks gestation, admitted to University of Iowa Neonatal Intensive Care Unit between 1 July 2012 to 30 June 2015...
December 1, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27904153/genotype-and-phenotype-characterization-in-a-spanish-cohort-with-isovaleric-acidemia
#4
María L Couce, Luís Aldamiz-Echevarría, María A Bueno, Patricia Barros, Amaya Belanger-Quintana, Javier Blasco, María-Teresa García-Silva, Ana M Márquez-Armenteros, Isidro Vitoria, Inmaculada Vives, Rosa Navarrete, Ana Fernández-Marmiesse, Belén Pérez, Celia Pérez-Cerdá
Isovaleric acidemia (IVA) is a rare disorder of leucine metabolism. We carried out a multicenter study of IVA patients diagnosed by newborn screening (NBS) or symptoms clinics over a period of 28 years in Spain. Evaluated at diagnosis, data included age, detection method, levels of C5 and IVG, enzymatic studies, clinical presentation parameters and genotype in 16 patients. Follow-up data included C5 levels, intellectual quotient and correlation genotype-phenotype. IVA was detected by NBS in 8 patients (prevalence of 1/326 629)...
December 1, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27903815/neonatal-vitamin-d-status-and-risk-of-multiple-sclerosis-a-population-based-case-control-study
#5
Nete Munk Nielsen, Kassandra L Munger, Nils Koch-Henriksen, David M Hougaard, Melinda Magyari, Kristian T Jørgensen, Marika Lundqvist, Jacob Simonsen, Tine Jess, Arieh Cohen, Egon Stenager, Alberto Ascherio
OBJECTIVE: As previous research has suggested that exposure to vitamin D insufficiency in utero may have relevance for the risk of multiple sclerosis (MS), we aimed to examine the direct association between level of neonatal vitamin D and risk of MS. METHODS: We carried out a matched case-control study. Dried blood spots samples (DBSS) belonging to 521 patients with MS were identified in the Danish Newborn Screening Biobank. For every patient with MS, 1-2 controls with the same sex and birth date were retrieved from the Biobank (n = 972)...
November 30, 2016: Neurology
https://www.readbyqxmd.com/read/27903579/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency-mcadd-a-cause-of-severe-hypoglycaemia-in-an-apparently-well-child
#6
Kene Ebuka Maduemem
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD) is a disorder of fatty acid β oxidation inherited in an autosomal recessive manner. The enzyme is useful in hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting. It is a cause of hypoketotic hypoglycaemia in a previously well child. MCADD is not part of newborn screening in Ireland; children are likely to be missed if routine hypoglycaemic screen is not instituted when blood glucose level is below 2...
November 30, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27901447/multivariate-analysis-of-thyrotropin-in-preterm-newborns-based-on-adequacy-of-weight-for-gestational-age
#7
Vicente María Bosch-Giménez, Antonio Palazón-Bru, Álvaro Blasco-Barbero, Mercedes Juste-Ruiz, María Mercedes Rizo-Baeza, Ernesto Cortés-Castell
BACKGROUND: Different and conflicting data have been published concerning thyroid-stimulating hormone (TSH) levels among small-for-gestational-age (SGA) and appropriate-for-gestational-age (AGA) newborns. The hypothesis of our study was that SGA preterm infants have higher TSH levels than those who are not underweight. METHODS: This cross-sectional study analysed the TSH levels of all preterm newborns with a negative congenital hypothyroidism screening result (TSH<7...
November 30, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27900753/-issues-related-to-screening-and-caring-for-newborns-with-hearing-impairments
#8
Mei-Show Liou, Ying Tsao
The critical period for auditory development in humans begins at around the 20th gestational week and continues until 3 years of age. Both genetic and environmental factors are known to cause impaired hearing. Without early identification and intervention, hearing-impaired children face a high risk of experiencing significant difficulties with speech and language development, social behavior, and emotional functioning. Two types of commonly used hearing screening technologies include transient evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (aABR)...
December 2016: Hu Li za Zhi the Journal of Nursing
https://www.readbyqxmd.com/read/27900477/the-influence-of-seasonality-and-manufacturer-kit-lot-changes-on-17%C3%AE-hydroxyprogesterone-measurements-and-referral-rates-of-congenital-adrenal-hyperplasia-in-newborns
#9
Melissa Pearce, Erin Dauerer, A Gregory DiRienzo, Michele Caggana, Norma P Tavakoli
: Newborn screening for congenital adrenal hyperplasia (CAH) is performed by measuring the concentration of 17α-hydroxyprogesterone (17-OHP) in dried blood spots. Unfortunately, the level of 17-OHP varies due to multiple factors, and therefore, the false positive rate for the test is a challenge. We analyzed screening data from 2007 to 2015 to determine the effect of seasonal changes and manufacturer kit lot changes on 17-OHP values and on numbers of infants referred. Data from screening 2...
November 29, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27898585/growth-and-development-in-children-with-classic-congenital-adrenal-hyperplasia
#10
Walter Bonfig
PURPOSE OF REVIEW: Final height outcome in classic congenital adrenal hyperplasia (CAH) has been of interest for many years. With analysis of growth patterns and used glucocorticoid regimens, enhanced treatment strategies have been developed and are still under development. RECENT FINDINGS: Most of the current reports on final height outcome are confirmative of previous results. Final height data is still reported in cohorts that were diagnosed clinically and not by newborn screening...
November 24, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27893356/single-stranded-dna-aptamer-targeting-and-neutralization-of-anti-d-alloantibody-a-potential-therapeutic-strategy-for-haemolytic-diseases-caused-by-rhesus-alloantibody
#11
Yinze Zhang, Fan Wu, Manni Wang, Naibao Zhuang, Huayou Zhou, Hua Xu
BACKGROUND: Rhesus (Rh) D antigen is the most important antigen in the Rh blood group system because of its strong immunogenicity. When RhD-negative individuals are exposed to RhD-positive blood, they may produce anti-D alloantibody, potentially resulting in delayed haemolytic transfusion reactions and Rh haemolytic disease of the foetus and newborn, which are difficult to treat. Inhibition of the binding of anti-D antibody with RhD antigens on the surface of red blood cells may effectively prevent immune haemolytic diseases...
November 11, 2016: Blood Transfusion, Trasfusione del Sangue
https://www.readbyqxmd.com/read/27892440/urinary-tract-infection-in-asymptomatic-newborns-with-prolonged-unconjugated-hyperbilirubunemia-a-hospital-based-observational-study-from-western-region-of-nepal
#12
T Malla, B Sathian, K Karmacharya Malla, S Adhikari
Background Urine culture is usually not a part of work-up for neonatal unconjugated hyperbilirubinemia; hence its prevalence remains unknown. Objective This study was done to determine the incidence of urinary tract infection (UTI) in asymptomatic newborns with prolonged unconjugated hyperbilirubinemia and to evaluate which other laboratory parameters are associated with UTIs. Method A prospective observational study where jaundiced newborns otherwise clinically well, were evaluated for UTI. The study was carried out in neonatal intensive care unit of Manipal Teaching Hospital, Pokhara from June 2012 -April 2013...
January 2016: Kathmandu University Medical Journal (KUMJ)
https://www.readbyqxmd.com/read/27891581/antigen-specificity-determines-anti-red-blood-cell-igg-fc-alloantibody-glycosylation-and-thereby-severity-of-haemolytic-disease-of-the-fetus-and-newborn
#13
Myrthe E Sonneveld, Joke Koelewijn, Masja de Haas, Jon Admiraal, Rosina Plomp, Carolien A M Koeleman, Agnes L Hipgrave Ederveen, Peter Ligthart, Manfred Wuhrer, C Ellen van der Schoot, Gestur Vidarsson
Haemolytic disease of the fetus and newborn (HDFN) is a severe disease in which fetal red blood cells (RBC) are destroyed by maternal anti-RBC IgG alloantibodies. HDFN is most often caused by anti-D but may also occur due to anti-K, -c- or -E. We recently found N-linked glycosylation of anti-D to be skewed towards low fucosylation, thereby increasing the affinity to IgG-Fc receptor IIIa and IIIb, which correlated with HDFN disease severity. Here, we analysed 230 pregnant women with anti-c, -E or -K alloantibodies from a prospective screening cohort and investigated the type of Fc-tail glycosylation of these antibodies in relation to the trigger of immunisation and pregnancy outcome...
November 28, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27889436/wide-variation-found-in-care-of-opioid-exposed-newborns
#14
Debra L Bogen, Bonny L Whalen, Laura R Kair, Mark Vining, Beth A King
OBJECTIVE: Standardized practices for the management of neonatal abstinence syndrome (NAS) are associated with shorter lengths of stay, but optimal protocols are not established. We sought to identify practice variations for newborns with in utero chronic opioid exposure among hospitals in the Better Outcomes Through Research for Newborns (BORN) network. METHODS: Nursery site leaders completed a survey about hospitals' policies and practices regarding care for infants with chronic opioid exposure (≥3 weeks)...
November 23, 2016: Academic Pediatrics
https://www.readbyqxmd.com/read/27886948/variation-in-hospital-intrapartum-practices-and-association-with-cesarean-rate
#15
Lisbet S Lundsberg, Jessica L Illuzzi, Aileen M Gariepy, Sangini S Sheth, Christian M Pettker, Henry C Lee, Heather S Lipkind, Xiao Xu
OBJECTIVE: To examine hospital variation in intrapartum care and its relationship with cesarean rates. DESIGN: Cross-sectional survey. SETTING: Connecticut and Massachusetts hospitals providing obstetric services. PARTICIPANTS: Nurse managers or other clinical staff knowledgeable about intrapartum care. METHODS: We assessed labor and birth unit capacity and staffing, fetal monitoring, labor management, intrapartum interventions, newborn care, quality assurance, and performance review practices...
November 22, 2016: Journal of Obstetric, Gynecologic, and Neonatal Nursing: JOGNN
https://www.readbyqxmd.com/read/27882759/-management-of-care-of-hiv-positive-pregnant-women-in-the-period-1996-2014
#16
M Mojhová, I Mikysková, M Halaška, M Staňková, H Rozsypal, J Šrámek, J Záhumenský, M Malý
OBJECTIVE: The evaluation of multidisplinary care about HIV positive pregnant women in the Czech Republic. DESIGN: Review. SETTINGS: Gynekologicko-porodnická klinika 1. LF UK a Nemocnice na Bulovce, Praha. METHODS: The vertical transmission of HIV infection from mother to fetus occurs most often during birth, still 1-2% of HIV-positive pregnant women will transfer the virus transplacenta. Due to careful screening for HIV during pregnancy, counselling, combination antiretroviral (cART) therapy, childbirth planning and its performance by C-section there appears a significant decrease of the virus transmission to the fetus, its occurrence is around 2%...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27882741/bacteremia-induced-by-bifidobacterium-breve-in-a-newborn-with-cloacal-exstrophy
#17
Shinichi Sato, Toshihiko Uchida, Shota Kuwana, Kazuto Sasaki, Tatsuya Watanabe, Junko Saito, Takahiro Kawaji
Bifidobacterium breve is an effective probiotic agent used in the field of neonatology. Although B. breve has been considered safe, a case of B. breve bacteremia has been reported. The pathogenic mechanism underlying the bacteremia is unknown. Herein, we report a second case of B. breve bacteremia that developed in a neonate with multiple abdominal organ anomalies. Following surgical repair immediately after birth, B. breve treatment was started. After 1 week, the infant developed B. breve bacteremia following the onset of adhesive ileus...
November 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27881652/inhibition-of-human-cytomegalovirus-pul89-terminase-subunit-blocks-virus-replication-and-genome-cleavage
#18
Yan Wang, Lili Mao, Jayakanth Kankanala, Zhengqiang Wang, Robert J Geraghty
: Human cytomegalovirus terminase complex cleaves the concatemeric genomic DNA into unit lengths during genome packaging and particle assembly. This process is an attractive drug target because cleavage of concatemeric DNA is not required in mammalian cell DNA replication, indicating that drugs targeting the terminase complex could be safe and selective. One component of the human cytomegalovirus terminase complex, pUL89, provides the endonucleolytic activity for genome cleavage and the domain responsible is reported to have an RNase H-like fold...
November 23, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27876694/hypersuccinylacetonaemia-and-normal-liver-function-in-maleylacetoacetate-isomerase-deficiency
#19
Hao Yang, Walla Al-Hertani, Denis Cyr, Rachel Laframboise, Guy Parizeault, Shu Pei Wang, Francis Rossignol, Marie-Thérèse Berthier, Yves Giguère, Paula J Waters, Grant A Mitchell
BACKGROUND: A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH). Newborns with HT1 are usually clinically asymptomatic but show liver dysfunction with coagulation abnormalities (prolonged prothrombin time and/or high international normalised ratio). Early treatment with nitisinone (NTBC) plus dietary restriction of tyrosine and phenylalanine prevents the complications of severe liver disease and neurological crises...
November 22, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27873432/low-perinatal-zinc-status-is-not-associated-with-the-risk-of-type-1-diabetes-in-children
#20
Julie N Kyvsgaard, Anne J Overgaard, Louise D Jacobsen, Steffen U Thorsen, Christian B Pipper, Thomas H Hansen, Søren Husted, Henrik B Mortensen, Flemming Pociot, Jannet Svensson
AIM: Immunologic events during fetal life may play a part in the pathogenesis of type 1 diabetes (T1D). As zinc is involved in immunologic processes, the purpose was to investigate perinatal zinc status and the later risk of developing T1D and association to age at onset. METHODS: A population-based case-control study based on data from Danish Childhood Diabetes Register and the Danish Newborn Screening Biobank. Cases and controls were matched by birth year and month...
November 22, 2016: Pediatric Diabetes
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