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Newborn Screening

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https://www.readbyqxmd.com/read/28930183/substituting-sodium-hydrosulfite-with-sodium-metabisulfite-improves-long-term-stability-of-a-distributable-paper-based-test-kit-for-point-of-care-screening-for-sickle-cell-anemia
#1
Kian Torabian, Dalia Lezzar, Nathaniel Z Piety, Alex George, Sergey S Shevkoplyas
Sickle cell anemia (SCA) is a genetic blood disorder that is particularly lethal in early childhood. Universal newborn screening programs and subsequent early treatment are known to drastically reduce under-five SCA mortality. However, in resource-limited settings, cost and infrastructure constraints limit the effectiveness of laboratory-based SCA screening programs. To address this limitation our laboratory previously developed a low-cost, equipment-free, point-of-care, paper-based SCA test. Here, we improved the stability and performance of the test by replacing sodium hydrosulfite (HS), a key reducing agent in the hemoglobin solubility buffer which is not stable in aqueous solutions, with sodium metabisulfite (MS)...
September 20, 2017: Biosensors
https://www.readbyqxmd.com/read/28929058/universal-hearing-screening-in-newborns-using-otoacoustic-emissions-and-brainstem-evoked-response-in-eastern-uttar-pradesh
#2
Ashwini Kumar, S C Gupta, V R Sinha
The objectives were to determine the incidence of hearing impairment in a standardized population of neonates and to determine the significance of association of epidemiological and risk factors with neonatal hearing loss. A cohort of 600 newborns was selected for study and divided into two groups-525 in 'No Risk' group and remaining 75 in 'At Risk' group. The study protocol was carried out in three steps: (a) Screening of Hearing Loss with TOAE, done from 36 h after birth to 28 days of life, (b) Re-screening of hearing loss in newborns (of 4-12 weeks of age), who were tested positive for hearing loss in the first screening, done with DPOAE, (c) Confirmation of hearing loss with BERA, in those who were tested positive in both the first and second screening...
September 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28925814/evaluation-of-timely-pediatric-cochlear-implant-care-throughout-europe-is-european-cochlear-implantation-care-according-to-guidelines
#3
Hanneke Bruijnzeel, Aren Bezdjian, Anke Lesinski-Schiedat, Angelika Illg, Konstance Tzifa, Luisa Monteiro, Antonio Della Volpe, Wilko Grolman, Vedat Topsakal
OBJECTIVES: International guidelines indicate that children with profound hearing loss should receive a cochlear implant (CI) soon after diagnosis in order to optimize speech and language rehabilitation. Although prompt rehabilitation is encouraged by current guidelines, delays in cochlear implantation are still present. This study investigated whether European countries establish timely pediatric CI care based on epidemiological, commercial, and clinical data. METHODS: An estimation of the number of pediatric CI candidates in European countries was performed and compared to epidemiological (Euro-CIU), commercial (Cochlear(®)), and clinical (institutional) age-at-implantation data...
September 19, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28919799/maple-syrup-urine-disease-mechanisms-and-management
#4
REVIEW
Patrick R Blackburn, Jennifer M Gass, Filippo Pinto E Vairo, Kristen M Farnham, Herjot K Atwal, Sarah Macklin, Eric W Klee, Paldeep S Atwal
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28918671/long-term-outcomes-of-severe-combined-immunodeficiency-therapy-implications
#5
Jennifer Heimall, Morton J Cowan
Newborn screening has led to a better understanding of the prevalence of Severe Combined Immunodeficiency (SCID) overall and in terms of specific genotypes. Survival has improved following hematopoietic stem cell transplantation (HCT) with the best outcomes seen following use of a matched sibling donor. However, questions remain regarding the optimal alternative donor source, appropriate use of conditioning and the impact of these decisions on immune reconstitution and other late morbidities. Areas covered: The currently available literature reporting late effects after HCT for SCID and use of alternative therapies including enzyme replacement, alternative donors and gene therapy are reviewed...
September 18, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28917066/effectiveness-of-the-critical-congenital-heart-disease-screening-program-for-early-diagnosis-of-cardiac-abnormalities-in-newborn-infants
#6
Abdulmajid M Almawazini, Hamdi K Hanafi, Hasan A Madkhali, Noura B Majrashi
To evaluate the effectiveness of critical congenital heart disease (CCHD) screening program for early diagnosis of cardiac anomalies in newborn infants.  Methods: This is a hospital-based prospective cross-sectional study conducted in the Pediatric and Neonatology Department, King Fahad Hospital at  Albaha, Saudi Arabia, between February 2016 and February 2017. Results: We screened 2961 (95.4%) of 3103 patients in a nursery unit; 142 (4.6%) patients were not screened. The test was positive in 114 (3.9%) patients and negative in 2847 (96...
October 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28916928/newborn-screening-in-the-era-of-precision-medicine
#7
Lan Yang, Jiajia Chen, Bairong Shen
As newborn screening success stories gained general confirmation during the past 50 years, scientists quickly discovered diagnostic tests for a host of genetic disorders that could be treated at birth. Outstanding progress in sequencing technologies over the last two decades has made it possible to comprehensively profile newborn screening (NBS) and identify clinically relevant genomic alterations. With the rapid developments in whole-genome sequencing (WGS) and whole-exome sequencing (WES) recently, we can detect newborns at the genomic level and be able to direct the appropriate diagnosis to the different individuals at the appropriate time, which is also encompassed in the concept of precision medicine...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28915376/psychometric-properties-of-the-postpartum-bonding-questionnaire-and-correlates-of-mother-infant-bonding-impairment-in-italian-new-mothers
#8
Alessandra Busonera, Stefania Cataudella, Jessica Lampis, Marco Tommasi, Giulio Cesare Zavattini
OBJECTIVE: impaired maternal bonding is a risk factor for problems with infant well-being and development. The investigation of perinatal variables related to disorders of the mother-infant relationship as well as the administration of reliable and valid screening tools to new mothers in the postpartum can help identify early signs of a disturbed mother-child relationship. The Postpartum Bonding Questionnaire (PBQ) has been shown to be a valid screening instrument, but its dimensional structure is still controversial...
September 1, 2017: Midwifery
https://www.readbyqxmd.com/read/28915261/simultaneous-determination-of-3-hydroxypropionic-acid-methylmalonic-acid-and-methylcitric-acid-in-dried-blood-spots-second-tier-lc-ms-ms-assay-for-newborn-screening-of-propionic-acidemia-methylmalonic-acidemias-and-combined-remethylation-disorders
#9
Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun
BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to develop a multiplex approach for concurrent determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid from the same dried blood spot (DBS) as in primary screening (second-tier test)...
2017: PloS One
https://www.readbyqxmd.com/read/28914427/the-clinical-and-genetic-spectrum-of-maroteaux-lamy-syndrome-mucopolysaccharidosis-vi-in-the-eastern-province-of-saudi-arabia
#10
Nouriya Abbas Al-Sannaa, Hind Yousif Al-Abdulwahed, Sami Ibrahim Al-Majed, Issam Hassan Bouholaigah
Mucopolysaccharidosis (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase or arylsulfatase B. It is involved in the degradation of glycosaminoglycans and characterized by a wide spectrum of clinical and genetic heterogeneity. So far, more than 150 mutations have been reported in the ARSB gene. Most of these mutations are either novel, private, or compound heterozygous making phenotype-genotype correlation as well as population screening difficult...
September 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28910808/detecting-congenital-central-hypothyroidism-by-newborn-screening-difficulty-in-distinguishing-from-congenital-thyroxine-binding-globulin-deficiency
#11
Kara J Connelly, Melinda J Pierce, Cheryl Hanna, Stephen H LaFranchi
BACKGROUND/AIMS: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4-binding globulin (TBG) deficiency. We sought to determine whether thyroid function tests reliably separate CH-C from TBG deficiency. METHODS: We analyzed NBS and serum free and total T4, T3 resin uptake (T3RU) or TBG, and TSH for infants in the Northwest Regional NBS Program (NWRSP) between the years 2008 and 2015 with either CH-C or TBG deficiency...
September 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28910311/hearing-impairment-in-premature-newborns-analysis-based-on-the-national-hearing-screening-database-in-poland
#12
Katarzyna Wroblewska-Seniuk, Grazyna Greczka, Piotr Dabrowski, Joanna Szyfter-Harris, Jan Mazela
OBJECTIVES: The incidence of sensorineural hearing loss is between 1 and 3 per 1000 in healthy neonates and 2-4 per 100 in high-risk infants. The national universal neonatal hearing screening carried out in Poland since 2002 enables selection of infants with suspicion and/or risk factors of hearing loss. In this study, we assessed the incidence and risk factors of hearing impairment in infants ≤33 weeks' gestational age (wga). METHODS: We analyzed the database of the Polish Universal Newborns Hearing Screening Program from 2010 to 2013...
2017: PloS One
https://www.readbyqxmd.com/read/28910260/shining-new-light-on-newborn-screening-of-cystic-fibrosis-in-the-province-of-quebec
#13
Léticia Khendek
Newborn screening of cystic fibrosis, a severe genetic disease with high treatment burden, is offered in all of North America with the exception of the province of Quebec. This condition, when diagnosed on symptomatic presentation, is marked by chronic infections and progressive lung function decline leading to eventual respiratory failure. Patients continue to have a median age of survival notably below the Canadian average. Despite prevalence rates of cystic fibrosis almost three times the national average in certain regions of Quebec, the province still does not offer screening to its newborns...
September 14, 2017: Canadian Journal of Public Health. Revue Canadienne de Santé Publique
https://www.readbyqxmd.com/read/28904689/severe-neonatal-cytomegalovirus-infection-about-a-case
#14
Brahim El Hasbaoui, Amal Bousselamti, Mohammed Amine Redouani, Amina Barkat
Maternofoetal infection with Cytomegalovirus (CMV) is the most common congenital infection and a leading cause of mental retardation and sensori-neural hearing loss. Population-based studies indicate that at least 0.5% of all infants born alive have CMV of whom approximately 10% have clinically evident symptomsat birth. The Justification of systematic screening for foetal CMV infection is still controversial and is not recommended in most developed countries. This is mainly justified by the paucity of antenatal prognostic factors and the lack of established intrauterine treatment when foetal infection has been diagnosed...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28903871/prevalence-and-risk-factors-for-transition-period-diseases-in-grazing-dairy-cows-in-brazil
#15
Rolnei R Daros, Maria J Hötzel, Jose A Bran, Stephen J LeBlanc, Marina A G von Keyserlingk
The aim of this cross-sectional study was to describe the incidence risk of dystocia, retained placenta (RP), pathological recumbence (down cow), the prevalence of metritis and subclinical ketosis (SCK), and the risk factors for SCK, metritis, and RP in grazing dairy herds in Southern Brazil. Fifty-three herds were visited 2-6 times from February to October of 2015. Body condition score (BCS), breed, days in milk (DIM), parity and disease status were recorded for each cow that was between 3 and 21 DIM at the time of the visits...
September 15, 2017: Preventive Veterinary Medicine
https://www.readbyqxmd.com/read/28898885/pilot-neonatal-screening-program-for-central-congenital-hypothyroidism-evidence-of-significant-detection
#16
Débora Braslavsky, Maria Virginia Méndez, Laura Prieto, Ana Keselman, Rosa Enacan, Laura Gruñeiro-Papendieck, Nicolas Jullien, Alexandru Savenau, Rachel Reynaud, Thierry Brue, Ignacio Bergadá, Ana Chiesa
BACKGROUND/AIM: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. PATIENTS AND METHODS: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2-7 days...
September 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28895125/governance-arrangements-for-health-systems-in-low-income-countries-an-overview-of-systematic-reviews
#17
REVIEW
Cristian A Herrera, Simon Lewin, Elizabeth Paulsen, Agustín Ciapponi, Newton Opiyo, Tomas Pantoja, Gabriel Rada, Charles S Wiysonge, Gabriel Bastías, Sebastian Garcia Marti, Charles I Okwundu, Blanca Peñaloza, Andrew D Oxman
BACKGROUND: Governance arrangements include changes in rules or processes that determine authority and accountability for health policies, organisations, commercial products and health professionals, as well as the involvement of stakeholders in decision-making. Changes in governance arrangements can affect health and related goals in numerous ways, generally through changes in authority, accountability, openness, participation and coherence. A broad overview of the findings of systematic reviews can help policymakers, their technical support staff and other stakeholders to identify strategies for addressing problems and improving the governance of their health systems...
September 12, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28892906/changes-in-haematological-parameters-in-newborns-born-to-preeclamptic-mothers-a-case-control-study-in-a-rural-hospital
#18
Kalavakuru Mouna, Shilpa Manigatta Doddagowda, Krishnappa Junjegowda, Latha Krishnamurthy
INTRODUCTION: Pregnancy is a physiological phenomenon. However, some women develop problems during pregnancy period, which puts both the mother's and the foetus health at risk. Hypertensive disorders of pregnancy are the type of the maternal diseases that can cause the most detrimental effects to the mother and foetus. AIMS: To determine the haematological parameters in neonates born to preeclamptic mothers. MATERIALS AND METHODS: It was a prospective case control study carried out on neonates born to preeclamptic mothers in our institute from March 2016 to November 2016...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28892479/towards-chagas-disease-elimination-neonatal-screening-for-congenital-transmission-in-rural-communities
#19
Pamela Marie Pennington, José Guillermo Juárez, Margarita Rivera Arrivillaga, Sandra María De Urioste-Stone, Katherine Doktor, Joe P Bryan, Clara Yaseli Escobar, Celia Cordón-Rosales
Chagas disease is a neglected tropical disease that continues to affect populations living in extreme poverty in Latin America. After successful vector control programs, congenital transmission remains as a challenge to disease elimination. We used the PRECEDE-PROCEED planning model to develop strategies for neonatal screening of congenital Chagas disease in rural communities of Guatemala. These communities have persistent high triatomine infestations and low access to healthcare. We used mixed methods with multiple stakeholders to identify and address maternal-infant health behaviors through semi-structured interviews, participatory group meetings, archival reviews and a cross-sectional survey in high risk communities...
September 11, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28891027/short-term-oral-zinc-supplementation-among-babies-with-neonatal-sepsis-for-reducing-mortality-and-improving-outcome-a-double-blind-randomized-controlled-trial
#20
Newton Banupriya, Ballambattu Vishnu Bhat, Bosco Dhas Benet, Christina Catherine, Magadi Gopalakrishna Sridhar, Subhash Chandra Parija
OBJECTIVE: To evaluate the efficacy of short term zinc supplementation on the mortality rate and neurodevelopment outcome in neonates with sepsis at 12 mo corrected age. METHODS: The clinical trial was undertaken in the neonatal intensive care unit of JIPMER during the time period from September 2013 through December 2016. Neonates with clinical manifestations of sepsis who exhibited two positive screening tests (microESR, C- reactive protein, band cell count) were included and randomized into no zinc and zinc group...
September 11, 2017: Indian Journal of Pediatrics
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