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Newborn Screening

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https://www.readbyqxmd.com/read/29784513/racial-and-ethnic-differences-in-the-prevalence-of-congenital-cytomegalovirus-infection
#1
Karen B Fowler, Shannon A Ross, Masako Shimamura, Amina Ahmed, April L Palmer, Marian G Michaels, David I Bernstein, Pablo J Sánchez, Kristina N Feja, Audra Stewart, Suresh Boppana
OBJECTIVE: To evaluate the impact of race and ethnicity upon the prevalence and clinical spectrum of congenital cytomegalovirus infection (cCMV). STUDY DESIGN: From 2007 to 2012, 100 332 infants from 7 medical centers were screened for cCMV while in the hospital. Ethnicity and race were collected and cCMV prevalence rates were calculated. RESULTS: The overall prevalence of cCMV in the cohort was 4.5 per 1000 live births (95% CI, 4.1-4.9)...
May 18, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29783823/-phenotypic-and-genotypic-spectra-of-patients-with-glucose-6-phosphate-dehydrogenase-deficiency-gene-known-pathogenic-variants-a-single-center-study
#2
X Chen, L Yang, H J Wang, B B Wu, Y L Lu, X R Dong, W H Zhou
Objective: To analyze the hotspots of known pathogenic disease-causing variants of glucose-6-phosphate dehydrogenase (G6PD) and the phenotype spectrum of neonatal patients with known pathogenic disease-causing variants of G6PD. Methods: The known pathogenic disease-causing variants of G6PD were collected from Human Gene Mutation Database. Screening was performed for these variants among the 7 966 cases (2 357 neonatal, 5 609 non-neonatal) in the database of sequencing at Molecular Diagnosis Center, Children's Hospital of Fudan University...
May 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29783822/-evaluations-of-newborn-screening-program-performance-and-enzymatic-diagnosis-of-glucose-6-phosphate-dehydrogenase-deficiency-in-guangzhou
#3
F Tang, Y L Huang, X Jiang, X F Jia, B Li, Y Feng, Q Y Chen, C F Tang
Objective: To reveal the molecular epidemiologic characteristics of glucose-6-phosphate dehydrogenase (G6PD) gene and to evaluate based on the genetic analysis the newborn screening program performance and enzymatic diagnosis of G6PD deficiency in Guangzhou. Methods: G6PD enzyme activities were measured by quantitative fluorescence assay in dry blood spots of 16 319 newborns(8 725 males, 7 594 females) 3-7 days after birth in Guangzhou Newborn Center. They were born in Guangzhou form Oct. 1 to 20, 2016. The cutoff value of G6PD was less than 2...
May 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29781705/early-hearing-detection-and-intervention-reflections-from-the-south-african-context
#4
Amisha Kanji
For researchers and clinicians in developing contexts like South Africa, the establishment of universal newborn hearing screening (UNHS) programmes is something which we have strived to achieve. However, we need to ask the question as to whether we have attempted to view our ultimate goal of achieving mandated UNHS programmes from the perspective of the South African healthcare system as a whole. The current manuscript is aimed at providing an overview of audiological services within a broader context, with reflections from a South African perspective, and a suggestion to consider alternatives to UNHS, particularly in the South African public health care sector...
April 19, 2018: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
https://www.readbyqxmd.com/read/29781571/new-approach-to-accurate-interpretation-of-sickle-cell-disease-newborn-screening-by-applying-multiple-of-median-cutoffs-and-ratios
#5
Bichr Allaf, Franck Patin, Jacques Elion, Nathalie Couque
BACKGROUND: The main goal of newborn screening (NBS) for sickle cell disease (SCD) is to detect affected neonates so that specific preventive care can be implemented. High-performance liquid chromatography (HPLC) used for NBS has high sensitivity and specificity, but we lack guidelines for quantitative hemoglobin (Hb) fraction interpretation. The purpose of this study was to determine cutoff values to standardize quantitative interpretation in SCD NBS for different clinical situation such as, red blood cell transfusion or beta-thalassemia, which can be real screening pitfalls...
May 21, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29780965/cochlear-implantation-in-infants-below-12-months-of-age
#6
Richard T Miyamoto, Bethany Colson, Shirley Henning, David Pisoni
Objectives: To provide safety and efficacy data on infants implanted below 12 months of age. Methods: With the wide application of newborn hearing screening programs, infants with deafness are being identified at birth. When a hearing aid trial fails, cochlear implantation is the only option to restore hearing. Mounting evidence suggests that age at implantation is a strong predictor of language outcomes. Using the minimally invasive surgical technique we have employed for nearly two decades, a limited clinical trial was initiated in the year 2000 because this age limitation fell outside of FDA guidelines...
December 2017: World Journal of Otorhinolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29776787/the-value-of-peripheral-perfusion-index-measurements-for-early-detection-of-critical-cardiac-defects
#7
Ozgun Uygur, Ozge Altun Koroglu, Erturk Levent, Merve Tosyali, Mete Akisu, Mehmet Yalaz, Nilgun Kultursay
BACKGROUND: Approximately 25% of congenital heart diseases (CHD) are estimated to be critical and require an intervention. In this study, we aimed to investigate the additional value of peripheral perfusion index (PPI) measurements to pulse oximetry screening for critical CHD (CCHD). METHODS: Infants born at Ege University Hospital between May 2013 and September 2015 were prospectively included in the study. In addition to physical examination, pre- and postductal oxygen saturations and PPI values were measured with a new generation pulse oximeter before discharge from the hospital...
April 12, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29774363/developmental-dysplasia-of-the-hip-why-are-we-still-operating-on-them-a-plea-for-institutional-newborn-clinical-screening
#8
Wu Chean Lee, Sumanth Kumar Gera, Arjandas Mahadev
INTRODUCTION: Developmental dysplasia of the hip (DDH) is a common orthopaedic condition at birth. Non-surgical management with Pavlik harness can effectively treat DDH with early clinical diagnosis at newborn, but open surgeries continue to be performed. We aimed to elucidate the reasons for this. METHODS: A retrospective review was performed of all open surgeries related to DDH from 2006 to 2016. Patients were either born at our institution (Group 1) or outside of it (Group 2)...
May 18, 2018: Singapore Medical Journal
https://www.readbyqxmd.com/read/29768370/a-case-report-of-neurological-complications-owing-to-lately-diagnosed-hyperargininemia-emphasizing-the-role-of-national-neonatal-screening-policies-in-the-kingdom-of-bahrain
#9
Moiz Bakhiet, Aminah M I AlAwadi, Maryam M AlHammadi, Maryam F Ali, Noora Butti
INTRODUCTION: Arginine is an essential amino acid that plays an important role in various body functions including cell division, wound healing, removal of ammonia, immune function, and release of hormones. Hyperargininemia, an autosomal recessive genetic disorder, is considered one of the least common urea cycle disorders. It rarely presents in the neonatal period but rather appears in children at the age between 2 and 4 years. CASE PRESENTATION: Herein, we demonstrate a case of a 14-year-old female who presented to the neurology clinic with several neurological complications, which were found to be a consequence of high levels of arginine discovered after performing a metabolic screening test...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29768223/nano-biosensor-based-on-reduced-graphene-oxide-and-gold-nanoparticles-for-detection-of-phenylketonuria-associated-dna-mutation
#10
Seyed Morteza Seifati, Navid Nasirizadeh, Mostafa Azimzadeh
Phenylketonuria (PKU)-associated DNA mutation in newborn children can be harmful to his health and early detection is the best way to inhibit consequences. A novel electrochemical nano-biosensor was developed for PKU detection, based on signal amplification using nanomaterials, e.g. gold nanoparticles (AuNPs) decorated on the reduced graphene oxide sheet on the screen-printed carbon electrode. The fabrication steps were checked by field emission scanning electron microscope imaging as well as cyclic voltammetry analysis...
June 2018: IET Nanobiotechnology
https://www.readbyqxmd.com/read/29767664/biochemical-and-molecular-characterization-of-3-methylcrotonylglycinuria-in-an-italian-asymptomatic-girl
#11
Carla Cozzolino, Guglielmo Rd Villani, Giulia Frisso, Emanuela Scolamiero, Lucia Albano, Giovanna Gallo, Roberta Romanelli, Margherita Ruoppolo
3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2 genes, leads to accumulation of 3-methylcrotonyl-CoA metabolites in blood and/or urine, primarily 3-hydroxyisovaleryl-carnitine (C5-OH) in plasma and 3-methylcrotonyl-glycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA) in the urine...
May 14, 2018: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29767443/is-the-neonatal-tongue-screening-test-a-valid-and-reliable-tool-for-detecting-ankyloglossia-in-newborns
#12
Clarissa de Almeida Brandão, Mirian de Waele Souchois de Marsillac, Fernanda Barja-Fidalgo, Branca Heloisa Oliveira
BACKGROUND: Although there is a lack of strong evidence for the association between ankyloglossia in newborns and impaired breastfeeding, screening for ankyloglossia using the Neonatal Tongue Screening Test (NTST) is mandated by law in Brazilian maternities. AIM: To assess the reliability and validity of the NTST. DESIGN: cohort study; baseline sample comprised 268 mother-newborn dyads. At follow-up, 169 mothers were contacted by telephone...
May 16, 2018: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/29764722/middle-ear-disease-in-children-with-cleft-palate
#13
REVIEW
Tulasi Kota Karanth, Kenneth R Whittemore
OBJECTIVE: The objective of this review is to summarize all aspects of middle ear diseases in children with cleft palate (CP). METHODS: PubMed, Scopus, The Cumulative Index to Nursing and Allied Health Literature (CINAHL) and The Cochrane Library were searched for English-language randomized control trials (RCTs), meta-analyses, systematic reviews and observational studies published through 31st July 2017. RESULTS: Epidemiology and pathogenesis of middle ear diseases in children with cleft palate have been discussed in this review...
May 12, 2018: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/29764569/-combined-effect-of-gestational-age-and-birth-weight-on-metabolites-related-to-inherited-metabolic-diseases-in-neonates
#14
Fang Yi, Ling Wang, Mei Wang, Xue-Lian Yuan, Hua-Jing Wan, Jia-Yuan Li
OBJECTIVE: To study the combined effect of gestational age and birth weight on metabolites related to inherited metabolic diseases (IMD). METHODS: A total of 3 381 samples ruled out of IMD by follow-up were randomly selected from 38 931 newborns who participated in the neonatal IMD screening during 2014-2016. The 3 381 neonates were categorized into seven groups according to their gestational age and birth weight: extremely preterm appropriate-for-gestational age (AGA) group (n=12), preterm small-for-gestational age (SGA) group (n=18), preterm AGA group (n=219), preterm large-for-gestational age (LGA) group (n=18), full-term SGA group (n=206), full-term AGA group (n=2 677), and full-term LGA group (n=231)...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29760355/interventions-integrating-non-communicable-disease-prevention-and-reproductive-maternal-newborn-and-child-health-a-systematic-review
#15
Kimiyo Kikuchi, Rakesh Ayer, Sumiyo Okawa, Mariko Nishikitani, Fumihiko Yokota, Masamine Jimba, Naoki Nakashima
Reproductive, maternal, newborn, and child health (RMNCH) care services could be critical entry points for preventing non-communicable diseases in women and children. In high-income countries, non-communicable diseases screening has been integrated into both the medical and public health systems. To integrate these services in low- and middle-income countries, it is necessary to closely examine its effectiveness and feasibility. In this systematic review, we evaluated the effectiveness of integrating gestational and non-gestational non-communicable diseases interventions and RMNCH care among women and children in low- and middle-income countries...
2018: Bioscience Trends
https://www.readbyqxmd.com/read/29758563/pilot-study-of-population-based-newborn-screening-for-spinal-muscular-atrophy-in-new-york-state
#16
Jennifer N Kraszewski, Denise M Kay, Colleen F Stevens, Carrie Koval, Bianca Haser, Veronica Ortiz, Anthony Albertorio, Lilian L Cohen, Ritu Jain, Sarah P Andrew, Sally Dunaway Young, Nicole M LaMarca, Darryl C De Vivo, Michele Caggana, Wendy K Chung
PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.ResultsNinety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29753934/recovery-of-cytomegalovirus-dna-from-newborn-saliva-samples-by-different-methods
#17
Oran Goshen, David M Goldfarb, Laura Book, Peter Tilley, Soren Gantt
BACKGROUND: Polymerase chain reaction (PCR) testing of saliva swabs has been shown to be an attractive method to screen for congenital cytomegalovirus (CMV) infection. However, few data are available regarding the impact of pre-analytic methods on CMV DNA recovery from saliva samples under various conditions. OBJECTIVES: The purpose of this study was to evaluate the impact of various transport media and transport conditions on the recovery of CMV DNA from spiked and clinical saliva samples from newborns using PCR testing...
May 5, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29753496/an-evidence-based-protocol-for-managing-neonatal-middle-ear-effusions-in-babies-who-fail-newborn-hearing-screening
#18
Brittany C Weber, Scott M Whitlock, Kaidi He, Blake S Kimbrell, Craig S Derkay
OBJECTIVES: To evaluate the prevalence of middle ear disease in infants referred for failed newborn hearing screening (NBHS) and to review patient outcomes after intervention in order to propose an evidence-based protocol for management of newborns with otitis media with effusion (OME) who fail NBHS. METHODS: 85 infants with suspected middle ear pathology were retrospectively reviewed after referral for failed NBHS. All subjects underwent a diagnostic microscopic exam with myringotomy with or without placement of a ventilation tube in the presence of a middle ear effusion and had intra-operative auditory brainstem response (ABR) testing or testing at a later date...
April 12, 2018: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/29752249/virtual-antenatal-encounter-and-standardized-simulation-assessment-vanessa-pilot-study
#19
Patrick Motz, Megan Gray, Taylor Sawyer, Jennifer Kett, Douglas Danforth, Kellen Maicher, Rachel Umoren
BACKGROUND: Prenatal counseling at the limits of newborn viability involves sensitive interactions between neonatal providers and families. Empathetic discussions are currently learned through practice in times of high stress. Decision aids may help improve provider communication but have not been universally adopted. Virtual standardized patients are increasingly recognized as a modality for education, but prenatal counseling simulations have not been described. To be valuable as a tool, a virtual patient would need to accurately portray emotions and elicit a realistic response from the provider...
May 11, 2018: JMIR Serious Games
https://www.readbyqxmd.com/read/29751845/beneath-the-floor-re-analysis-of-neurodevelopmental-outcomes-in-untreated-hurler-syndrome
#20
Elsa G Shapiro, Chester B Whitley, Julie B Eisengart
BACKGROUND: Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standardly treated with hematopoietic cell transplantation (HCT), which halts accumulating disease pathology and prevents early death. While norm-based data on developmental functioning in untreated children have previously demonstrated neurocognitive decline, advances in methodology for understanding the cognitive functioning of children with neurodegenerative diseases have highlighted that the previous choice of scores to report results was not ideal...
May 11, 2018: Orphanet Journal of Rare Diseases
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