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Newborn Screening

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https://www.readbyqxmd.com/read/28647472/-acute-fatty-liver-of-pregnancy-and-mitochondrial-fatty-acid-oxidation-consequences-for-the-offspring
#1
B Anon, C Barbet, C Gendrot, F Labarthe, Y Bacq
Acute fatty liver of pregnancy (AFLP) is a rare liver disease unique to pregnancy that can lead to acute liver failure. The prognosis, initially often fatal for both mother and child, has been improved by prompt delivery. The diagnosis should be highly suspected if the mother presents epigastric pain, nausea and/or vomiting, or polyuria-polydipsia in the third trimester of pregnancy. AFLP has been found associated with a genetic deficiency of fatty acid beta-oxidation, which may cause sudden death in infancy...
June 21, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28646642/universal-postpartum-mental-health-screening-for-parents-of-newborns-with-prenatally-diagnosed-birth-defects
#2
Joanna C M Cole, Michelle Olkkola, Haley Zarrin, Kelsey Berger, Julie S Moldenhauer
OBJECTIVE: To describe the implementation of a nurse-led project to screen parents for depression and traumatic stress in the postpartum period after visiting their newborns in the NICU. DESIGN: A standardized universal mental health postpartum screening and referral protocol was developed for parents of high-risk neonates. SETTING/LOCAL PROBLEM: The project occurred at the Garbose Family Special Delivery Unit, the first high-risk obstetrics unit serving healthy women who give birth to newborns with prenatally diagnosed fetal anomalies...
June 21, 2017: Journal of Obstetric, Gynecologic, and Neonatal Nursing: JOGNN
https://www.readbyqxmd.com/read/28646536/spectrum-of-mutations-in-cystinuria-patients-presenting-with-prenatal-hyperechoic-colon
#3
Isabelle Tostivint, Nicolas Royer, Mireille Nicolas, Agnes Bourillon, Isabelle Czerkiewicz, Pierre-Hadrien Becker, Françoise Muller, Jean-François Benoist
Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in two genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon has been reported in some patients as a non-pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a hyperechoic colon (HEC group) and 39 with a classical postnatal form (CC group). SLC3A1 and SLC7A9 were sequenced. All patients were fully genotyped, and the relationship between the genotype and clinical features was analyzed...
June 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28646478/newborn-screening-for-fabry-disease-in-the-north-west-of-spain
#4
Cristobal Colon, Saida Ortolano, Cristina Melcon-Crespo, Jose V Alvarez, Olalla E Lopez-Suarez, Maria L Couce, José R Fernández-Lorenzo
Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of α-galactosidase A enzymatic activity and GLA gene sequencing...
June 23, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28639843/characteristics-of-children-with-unilateral-hearing-loss
#5
Elizabeth M Fitzpatrick, Rakan S Al-Essa, JoAnne Whittingham, Jessica Fitzpatrick
OBJECTIVE: The purpose of this study was to describe the clinical characteristics of children with unilateral hearing loss (UHL), examine deterioration in hearing, and explore amplification decisions. DESIGN: Population-based data were collected prospectively from time of diagnosis. Serial audiograms and amplification details were retrospectively extracted from clinical charts to document the trajectory and management of hearing loss. SAMPLE: The study included all children identified with UHL in one region of Canada over a 13-year period (2003-2015) after implementation of universal newborn hearing screening...
June 22, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28637222/risk-factors-for-the-development-of-delayed-tsh-elevation-in-neonatal-intensive-care-unit-nicu-newborns
#6
Amnon Zung, Rachel Bier Palmon, Agneta Golan, Mara Troitzky, Smadar Eventov-Friedman, Ronella Marom, Rimona Keidar, Neri Kats, Shlomo Almashanu, Orna Flidel-Rimon
Context: Delayed TSH elevation (dTSH) is defined as elevated TSH in the second neonatal screen (following normal TSH in the initial screen) in premature, low-birth-weight and sick newborns, mostly in the neonatal intensive care unit (NICU) setting. The pathogenesis of dTSH is elusive. Objective: To identify risk factors for dTSH development among newborns in the NICU. Design: setting and patients: A retrospective chart review of neonates with dTSH was conducted in eight university-affiliated NICUs...
June 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28631226/introduction-of-a-simple-second-tier-screening-test-for-c5-isobars-in-dried-blood-spots-reducing-the-false-positive-rate-for-isovaleric-acidaemia-in-expanded-newborn-screening
#7
R S Carling, D Burden, I Hutton, R Randle, K John, J R Bonham
In 2015 the English Newborn Screening programme expanded to include Isovaleric Acidaemia (IVA). Screening is performed by flow injection analysis tandem mass spectrometry of isovalerylcarnitine. Isovalerylcarnitine is isobaric with pivaloylcarnitine which can be present in blood due to the use of pivalic ester pro-drugs or pivalic acid derivatives used as emollients in some nipple creams; the potential for false positives (FP) is well documented. A pilot study in England screened 438,164 babies, 18 had presumptive positive results but only 4 were confirmed as true positives (TP)...
June 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28629468/improving-detection-and-initial-management-of-gestational-diabetes-through-the-primary-level-of-care-in-morocco-protocol-for-a-cluster-randomized-controlled-trial
#8
Bettina Utz, Bouchra Assarag, Amina Essolbi, Amina Barkat, Nawal El Ansari, Bouchra Fakhir, Alexandre Delamou, Vincent De Brouwere
BACKGROUND: Morocco is facing a growing prevalence of diabetes and according to latest figures of the World Health Organization, already 12.4% of the population are affected. A similar prevalence has been reported for gestational diabetes (GDM) and although it is not yet high on the national agenda, immediate and long-term complications threaten the health of mothers and future generations. A situational analysis on GDM conducted in 2015 revealed difficulties in access to screening and delays in receiving appropriate care...
June 19, 2017: Reproductive Health
https://www.readbyqxmd.com/read/28627419/arx-polyalanine-expansion-mutations-lead-to-migration-impediment-in-the-rostral-cortex-coupled-with-a-developmental-deficit-of-calbindin-positive-cortical-gabaergic-interneurons
#9
K Lee, K Ireland, M Bleeze, C Shoubridge
The Aristaless-related homeobox gene (ARX) is indispensable for interneuron development. Patients with ARX polyalanine expansion mutations of the first two tracts (namely PA1 and PA2) suffer from intellectual disability of varying severity, with seizures a frequent comorbidity. The impact of PA1 and PA2 mutations on the brain development is unknown, hindering the search for therapeutic interventions. Here, we characterized the disturbances to cortical interneuron development in mice modeling the two most common ARX polyalanine expansion mutations in human...
June 13, 2017: Neuroscience
https://www.readbyqxmd.com/read/28627069/who-delivers-where-the-effect-of-obstetric-risk-on-facility-delivery-in-east-africa
#10
Sandra Virgo, Giorgia Gon, Francesca L Cavallaro, Wendy Graham, Susannah Woodd
OBJECTIVES: Skilled attendance at birth is key for the survival of pregnant women. This study investigates whether women at increased risk of maternal and newborn complications in four East African countries are more likely to deliver in a health facility than those at lower risk. METHODS: Demographic & Health Survey data for Kenya 2014, Rwanda 2014-15, Tanzania 2015-16 and Uganda 2011 were used to study women with a live birth in the three years preceding the survey...
June 19, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28626595/williams-beuren-syndrome-and-congenital-lobar-emphysema-uncommon-association-with-common-pathology
#11
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
INTRODUCTION: Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. CASE PRESENTATION: We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28626131/homozygous-duoxa2-mutation-p-tyr138-in-a-girl-with-congenital-hypothyroidism-and-her-apparently-unaffected-brother-case-report-and-review-of-the-literature
#12
Chiho Sugisawa, Shinji Higuchi, Masaki Takagi, Yukihiro Hasegawa, Matsuo Taniyama, Kiyomi Abe, Tomonobu Hasegawa, Satoshi Narumi
Mutations in DUOXA2, encoding dual oxidase maturation factor 2, is a rare genetic cause of congenital hypothyroidism. Only four biallelic DUOXA2 mutation carriers have been described to date. This study was conducted to report the clinical and genetic findings of a DUOXA2 mutation-carrying family, and to review the previously reported cases. The proband was a 4-year-old girl, who was diagnosed as having congenital hypothyroidism in the frame of newborn screening. She had a high serum TSH level (138 mU/L) and a low free T4 level (0...
June 16, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28624987/congenital-cytomegalovirus-infection-in-central-germany-an-underestimated-risk
#13
Hannah Rütten, Anke Rissmann, Birgit Brett, Serban-Dan Costa, Birgit Doßow, Jacqueline Färber, Stefan Fest, Christiane Fritzsch, Anke Lux, Ilona Päge, Claudia Spillner, Anke Redlich
PURPOSE: This is the first study to determine the cytomegalovirus (CMV) seronegativity rate for women of childbearing age in Saxony-Anhalt and to determine the prevalence of clinically relevant congenital CMV (cCMV) infection in Central Germany, because there are no valid data available. METHODS: The retrospective study was undertaken between January 2005 and December 2015. For the first time in Germany, the following seven data sources were used to analyze the prevalence of clinically relevant cCMV infection and the rate of CMV seronegative women of childbearing age: CMV Screening in maternity unit, University Women's Hospital, Social Paediatrics Centre (SPC), Malformation Monitoring Centre (MMC), Newborn Hearing Screening (NHS), Neonatal Intensive Care Unit (NICU), and In-house Doctor Department...
June 17, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28619065/open-issues-in-mucopolysaccharidosis-type-i-hurler
#14
REVIEW
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the gold standard for the treatment of MPS I-H in patients diagnosed and treated before 2-2...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28619060/incidence-disease-onset-and-short-term-outcome-in-urea-cycle-disorders-cross-border-surveillance-in-germany-austria-and-switzerland
#15
Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F Hoffmann, Beate Heinrich, Florian Gleich, Sven F Garbade
BACKGROUND: Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The study aims to provide epidemiologic data and to describe the disease manifestation and short-term outcome. METHOD: Cross-border surveillance of newly diagnosed patients with UCDs - below 16 years of age - was performed from July 2012 to June 2015 in Germany and Austria and from January 2012 to December 2015 in Switzerland...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28618320/screening-for-potential-child-maltreatment-in-parents-of-a-newborn-baby-the-predictive-validity-of-an-instrument-for-early-identification-of-parents-at-risk-for-child-abuse-and-neglect-iparan
#16
Claudia E van der Put, Merian B R Bouwmeester-Landweer, Eleonore A Landsmeer-Beker, Jan M Wit, Friedo W Dekker, N Pieter J Kousemaker, Herman E M Baartman
For preventive purposes it is important to be able to identify families with a high risk of child maltreatment at an early stage. Therefore we developed an actuarial instrument for screening families with a newborn baby, the Instrument for identification of Parents At Risk for child Abuse and Neglect (IPARAN). The aim of this study was to assess the predictive validity of the IPARAN and to examine whether combining actuarial and clinical methods leads to an improvement of the predictive validity. We examined the predictive validity by calculating several performance indicators (i...
June 12, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28617419/utilization-of-genomic-sequencing-for-population-screening-of-immunodeficiencies-in-the-newborn
#17
Ashleigh R Pavey, Dale L Bodian, Thierry Vilboux, Alina Khromykh, Natalie S Hauser, Kathi Huddleston, Elisabeth Klein, Aaron Black, Megan S Kane, Ramaswamy K Iyer, John E Niederhuber, Benjamin D Solomon
PurposeImmunodeficiency screening has been added to many state-directed newborn screening programs. The current methodology is limited to screening for severe T-cell lymphopenia disorders. We evaluated the potential of genomic sequencing to augment current newborn screening for immunodeficiency, including identification of non-T cell disorders.MethodsWe analyzed whole-genome sequencing (WGS) and clinical data from a cohort of 1,349 newborn-parent trios by genotype-first and phenotype-first approaches. For the genotype-first approach, we analyzed predicted protein-impacting variants in 329 immunodeficiency-related genes in the WGS data...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28615118/functional-and-biological-studies-of-%C3%AE-galactosidase-a-variants-with-uncertain-significance-from-newborn-screening-in-taiwan
#18
Hsuan-Chieh Liao, Ting-Rong Hsu, Leslie Young, Chuan-Chi Chiang, Chun-Kai Huang, Hao-Chuan Liu, Dau-Ming Niu, Yann-Jang Chen
Fabry disease is an X-linked disorder resulted from deficiency of α-galactosidase A (GLA) activity. In Taiwan, a total of 792,247 newborns were screened from 2008 to 2014 in two newborn screening centers, and 13 variants of uncertain significance (VOUS) in the GLA gene were identified. To determine whether these variants were pathogenic or not, functional, biochemical, clinical and pedigree analyses were performed. In vitro functional assay was established through site-directed mutagenesis, and four in silico tools were used to predict pathogenesis...
June 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28612343/mild-moderate-congenital-hearing-loss-secular-trends-in-outcomes-across-four-systems-of-detection
#19
P Carew, F K Mensah, G Rance, T Flynn, Z Poulakis, M Wake
BACKGROUND: Universal newborn hearing screening (UNHS) targets moderate or greater hearing loss. However, UNHS also frequently detects children with mild loss that results in many receiving early treatment. The benefits of this approach are not yet established. We aimed to (i) compare language and psychosocial outcomes between four hearing loss detection systems for children aged 5-8 years with congenital mild-moderate hearing loss; (ii) determine whether age of detection predicts outcomes; and (iii) compare outcomes between children identified via well-established UNHS and the general population...
June 14, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28610938/toxoplasmosis-seroprevalence-in-pregnant-women-and-serological-and-molecular-screening-in-neonatal-umbilical-cord-blood
#20
Mahshad Shieh, Mojtaba Didehdar, Reza Hajihossein, Farzam Ahmadi, Zahra Eslamirad
Toxoplasmosis is a common zoonotic disease that can also be transmitted from the mother to the embryo, with the risk of congenital infection varying around the world. The aim of this study was to screen pregnant women and their neonates for toxoplasmosis by serologic and molecular methods and assess the impact of risk factors associated with toxoplasmosis on the rate of congenital infection. This study was conducted at a regional maternity hospital in Arak, the capital of the Markazi Province in Iran, during a period of six months...
June 10, 2017: Acta Tropica
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