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Newborn Screening

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https://www.readbyqxmd.com/read/28526433/risk-of-low-birth-weight-and-micronutrient-deficiencies-in-neonates-from-mothers-after-gastric-bypass-a-case-control-study
#1
Geraldine Gascoin, Maxime Gerard, Agnès Sallé, Guillaume Becouarn, Stephanie Rouleau, Loïc Sentilhes, Régis Coutant
BACKGROUND: An increased risk of small-for-gestational-age infants after maternal bariatric surgery has been shown. The risk of micronutrients deficiencies in these neonates is unclear. OBJECTIVE: To screen for micronutrients deficiencies in newborns of mothers with gastric bypass. SETTINGS: University hospital in Angers, France. METHODS: This study compared the clinical and cord blood biological characteristics of 56 newborns of mothers with prior Roux-en-Y gastric bypass (RYGB) and 56 newborns of nonobese healthy mothers after normal pregnancy (controls), followed between January 3, 2008 and October 31, 2012...
March 27, 2017: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28522856/diagnosing-congenital-malaria-in-a-high-transmission-setting-clinical-relevance-and-usefulness-of-p-falciparum-hrp2-based-testing
#2
Hamtandi Magloire Natama, Delwendé Florence Ouedraogo, Hermann Sorgho, Eduard Rovira-Vallbona, Elisa Serra-Casas, M Athanase Somé, Maminata Coulibaly-Traoré, Petra F Mens, Luc Kestens, Halidou Tinto, Anna Rosanas-Urgell
Congenital malaria diagnosis is challenging due to frequently observed low parasite density infections, while their clinical relevance during early infancy is not well characterized. In Nanoro health district (Burkina Faso), we determined the prevalence of congenital malaria by real-time quantitative PCR and we assessed the performance of rapid diagnosis test (RDT) and light microscopy (LM) to detect Plasmodium falciparum infections in cord-blood samples. In addition, we examined the usefulness of P. falciparum Histidine Rich Protein2 (PfHRP2) as surrogate biomarker of infection and explored association between congenital malaria and clinical outcomes...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28522225/genetic-screening-of-spinal-muscular-atrophy-using-a-real-time-modified-cop-pcr-technique-with-dried-blood-spot-dna
#3
Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Kenta Nakanishi, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Toshio Saito, Kayoko Saito, Poh San Lai, Yasuhiro Takeshima, Atsuko Takeuchi, Yoshihiro Bouike, Maya Okamoto, Hisahide Nishio, Masakazu Shinohara
BACKGROUND: Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by mutations in SMN1. More than 95% of SMA patients carry homozygous SMN1 deletion. SMA is the leading genetic cause of infant death, and has been considered an incurable disease. However, a recent clinical trial with an antisense oligonucleotide drug has shown encouraging clinical efficacy. Thus, early and accurate detection of SMN1 deletion may improve prognosis of many infantile SMA patients. METHODS: A total of 88 DNA samples (37 SMA patients, 12 carriers and 39 controls) from dried blood spots (DBS) on filter paper were analyzed...
May 15, 2017: Brain & Development
https://www.readbyqxmd.com/read/28520780/towards-a-point-of-care-strip-test-to-diagnose-sickle-cell-anemia
#4
Meaghan Bond, Brady Hunt, Bailey Flynn, Petri Huhtinen, Russell Ware, Rebecca Richards-Kortum
A rapid test to identify patients with sickle cell disease could have important benefits in low-resource settings. Sickle cell anemia (SCA) affects about 300,000 newborns each year, the majority of whom are born in sub-Saharan Africa. Low-cost therapies are available to treat SCA, but most countries in sub-Saharan Africa lack robust neonatal screening programs needed to identify patients in need of treatment. To address this need, we developed and evaluated a competitive lateral flow assay that identifies patients with SCA (genotype HbSS) in 15 minutes using undiluted whole blood...
2017: PloS One
https://www.readbyqxmd.com/read/28520708/hepatitis-b-surface-antigen-screening-among-pregnant-women-and-care-of-infants-of-hepatitis-b-surface-antigen-positive-mothers-guam-2014
#5
Winston E Abara, Susan Cha, Tasneem Malik, Mia S DeSimone, Bernadette Schumann, Esther Mallada, Michael Klemme, Vince Aguon, Anne Marie Santos, Melissa Collier, Mary Kamb
Hepatitis B virus (HBV) infection is endemic among adults in the U.S. territory of Guam (1,2). Perinatal HBV transmission, which occurs at birth from an infected mother to her newborn infant, is a major mode of HBV transmission and maintains HBV endemicity (3). Approximately 90% of HBV-infected infants will develop chronic HBV infection, and approximately 25% of those will die prematurely from liver failure or hepatocellular carcinoma (4,5). Since 1988, the Advisory Committee on Immunization Practices has recommended that all pregnant women be screened for hepatitis B surface antigen (HBsAg), an indicator of HBV infection, and that infants of women who screen positive (HBsAg-positive women) receive postexposure prophylaxis (PEP) (hepatitis B vaccine and hepatitis B immunoglobulin [HBIG])...
May 19, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28520325/-newborn-infants-first-outpatient-visit
#6
V Rigo, C Pieltain, C Schoffeniels, M Kalenga, J L Belche
The focus on outpatient follow-up of newborn infants increases as the duration of hospital stay after birth decreases. The first outpatient visit addresses the adequacy of the home transition. Appropriate feedings are checked. Sudden infant death syndrome prevention and security advices are reminded. Realisation of both neonatal dried blood screen and hearing test is confirmed, as well as planning of specific follow-up appointments. The physical exam will focus on red flags for diseases or malformations with a delayed presentation...
May 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28516284/short-chain-acyl-coa-dehydrogenase-deficiency-from-gene-to-cell-pathology-and-possible-disease-mechanisms
#7
REVIEW
Zahra Nochi, Rikke Katrine Jentoft Olsen, Niels Gregersen
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation that is characterized by the presence of increased butyrylcarnitine and ethylmalonic acid (EMA) concentrations in plasma and urine. Individuals with symptomatic SCADD may show relatively severe phenotype, while the majority of those who are diagnosed through newborn screening by tandem mass spectrometry may remain asymptomatic. As such, the associated clinical symptoms are very diverse, ranging from severe metabolic or neuromuscular disabilities to asymptomatic...
May 17, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28516128/parental-experiences-of-raising-a-child-with-medium-chain-acyl-coa-dehydrogenase-deficiency
#8
Hilary Piercy, Katarzyna Machaczek, Parveen Ali, Sufin Yap
Newborn screening enabling early diagnosis of medium chain acyl-CoA dehydrogenase deficiency (MCADD) has dramatically improved health outcomes in children with MCADD. Achieving those outcomes depends on effective management by parents. Understanding parental management strategies and associated anxieties and concerns is needed to inform provision of appropriate care and support. Semistructured interviews were conducted with a purposive sample of parents of children aged 2 to 12 years. Thematic analysis identified two main themes...
January 2017: Global Qualitative Nursing Research
https://www.readbyqxmd.com/read/28516040/a-newborn-case-with-carnitine-palmitoyltransferase-ii-deficiency-initially-judged-as-unaffected-by-acylcarnitine-analysis-soon-after-birth
#9
Kenji Yamada, Ryosuke Bo, Hironori Kobayashi, Yuki Hasegawa, Mako Ago, Seiji Fukuda, Seiji Yamaguchi, Takeshi Taketani
Carnitine palmitoyltransferase II (CPT-2) deficiency, an autosomal recessive disorder of fatty acid oxidation, can be detected by newborn screening using tandem mass spectrometry (TMS). Our case was a boy born at 38 weeks and 6 days of gestation via normal vaginal delivery; his elder sister was affected with CPT-2 deficiency. Acylcarnitine (AC) was analyzed in both dried blood spots (DBS) and serum 2 h after birth to determine whether the boy was also affected. His C16 and C18:1 AC levels in DBS were in the normal range, while his serum long-chain AC levels were marginally increased but lower than those of his sister...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28514357/-the-results-of-universal-audiological-screening-of-newborn-infants-in-the-astrakhan-region
#10
N A Daykhes, E A Grigor'eva, Yu V Nazarochkin, V M Davydov, A O Kuznetsov
We have evaluated the results of universal audiological screening of 93 352 newborn infants performed in the Astrakhan region of the Russian Federation during the period from 2009 till 2015. The screening coverage amounted to 95%. The prevalence of hearing disorders was estimated at 1:1111 and that of their severe forms at 1:3000. The clinical significance of the examination during its first stage consists of the exclusion of evoked otoacoustic emission. After the completion of the second stage, it is necessary to carry out the regular medical follow up observation of the children suffering from hearing impairment and to undertake the early rehabilitative treatment based on the application of hearing aids and prosthetic devices...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28513837/maternal-near-miss-in-low-resource-areas
#11
Robert L Goldenberg, Sarah Saleem, Sumera Ali, Janet L Moore, Adrien Lokangako, Antoinette Tshefu, Musaku Mwenechanya, Elwyn Chomba, Ana Garces, Lester Figueroa, Shivaprasad Goudar, Bhalachandra Kodkany, Archana Patel, Fabian Esamai, Paul Nsyonge, Margo S Harrison, Melissa Bauserman, Carl L Bose, Nancy F Krebs, K Michael Hambidge, Richard J Derman, Patricia L Hibberd, Edward A Liechty, Dennis D Wallace, Jose M Belizan, Menachem Miodovnik, Marion Koso-Thomas, Waldemar A Carlo, Alan H Jobe, Elizabeth M McClure
OBJECTIVE: To describe the Global Network Near-Miss Maternal Mortality System and its application in seven sites. METHODS: In a population-based study, pregnant women eligible for enrollment in the Maternal and Newborn Health Registry at seven sites (Democratic Republic of the Congo; Guatemala; Belagavi and Nagpur, India; Kenya; Pakistan; and Zambia) between January 2014 and April 2016 were screened to identify those likely to have a near-miss event. The WHO maternal near-miss criteria were modified for low-resource settings...
May 17, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28510692/disseminated-neonatal-herpes-simplex-virus-type-1-after-a-water-birth
#12
Niazy Al-Assaf, Heather Moore, Kirk Leifso, Nadya Ben Fadel, Emanuela Ferretti
Neonatal herpes simplex virus (NHSV) infections are associated with significant morbidity and mortality. Numerous factors influence the transmission of HSV infection to newborns; however, immersion in water during labor has received very little attention as a possible risk factor despite the increasing popularity of water births. We report a case of disseminated NHSV type 1 infection, possibly acquired during a water birth. The purpose of this report is to alert healthcare providers to this potential route of transmission and to highlight the importance of screening guidelines for HSV before a water birth...
May 16, 2017: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/28510049/education-for-fathers-about-newborn-screening-and-leftover-dried-blood-spots
#13
Erin Rothwell, Bob Wong, Erin Johnson, Jeffrey R Botkin
The purpose of this research was to assess the impact of an educational intervention on paternal knowledge, attitudes, and support about newborn screening (NBS) and dried blood spots (DBS). Participants (n = 147) were randomized into one of two groups. The results from this study indicated that video education tools about NBS and DBS is associated with significantly increased knowledge, support, and satisfaction for both NBS and research use of DBS and an opt-out consent approach for DBS among fathers.
May 16, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28506597/a-practice-pattern-assessment-of-members-of-the-society-of-pediatric-urology-for-evaluation-and-treatment-of-urinary-tract-dilation
#14
Jessica N Jackson, Rebecca S Zee, Allison N Martin, Sean T Corbett, C D Anthony Herndon
INTRODUCTION: Over the last decade the literature, including a multidisciplinary consensus statement, has supported a paradigm shift in management of urinary tract dilation, yet the impact on practice patterns has not been well documented. OBJECTIVE: This study aims to elucidate specific practice patterns for treatment of prenatal unilateral urinary tract dilation and to assess surgical intervention patterns for ureteropelvic junction obstruction. STUDY DESIGN: An online survey was distributed to 234 pediatric urologists through the Society of Pediatric Urology...
April 26, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28505561/class-enzyme-based-motors-for-on-the-fly-enantiomer-analysis-of-amino-acids
#15
Laura García-Carmona, María Moreno-Guzmán, María Cristina González, Alberto Escarpa
Here, two class-enzyme motors are properly designed allowing the rapid dispersion of the class-enzyme D-amino acid oxidase (DAO) and L-amino acid oxidase (LAO) for selective "on the fly" biodetection of D and L-amino acids (AAs), respectively. The efficient movement together with the continuous release of fresh class-enzyme leads to a greatly accelerated enzymatic reaction processes without the need of external stirring or chemical and physical attachment of the enzyme. Ultra-fast detection (<2min) and accurate quantifications of L-phenylalanine (L-Phe) in plasma and whole-blood newborns samples diagnosed with Phenylketonuria and total D-AAs in Vibrio cholera cultures are pioneer illustrated as relevant examples of each enantiomer determination...
May 6, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28505190/dynamic-interaction-between-fetal-adversity-and-a-genetic-score-reflecting-dopamine-function-on-developmental-outcomes-at-36-months
#16
Adrianne R Bischoff, Irina Pokhvisneva, Étienne Léger, Hélène Gaudreau, Meir Steiner, James L Kennedy, Kieran J O'Donnell, Josie Diorio, Michael J Meaney, Patrícia P Silveira
BACKGROUND: Fetal adversity, evidenced by poor fetal growth for instance, is associated with increased risk for several diseases later in life. Classical cut-offs to characterize small (SGA) and large for gestational age (LGA) newborns are used to define long term vulnerability. We aimed at exploring the possible dynamism of different birth weight cut-offs in defining vulnerability in developmental outcomes (through the Bayley Scales of Infant and Toddler Development), using the example of a gene vs...
2017: PloS One
https://www.readbyqxmd.com/read/28505188/early-childhood-lung-function-is-a-stronger-predictor-of-adolescent-lung-function-in-cystic-fibrosis-than-early-pseudomonas-aeruginosa-infection
#17
Jessica E Pittman, Hannah Noah, Hollin E Calloway, Stephanie D Davis, Margaret W Leigh, Mitchell Drumm, Scott D Sagel, Frank J Accurso, Michael R Knowles, Marci K Sontag
OBJECTIVE: Pseudomonas aeruginosa has been suggested as a major determinant of poor pulmonary outcomes in cystic fibrosis (CF), although other factors play a role. Our objective was to investigate the association of early childhood Pseudomonas infection on differences in lung function in adolescence with CF. METHODS: Two populations of subjects with CF were studied: from the Gene Modifier Study (GMS), 346 F508del homozygotes with severe vs. mild adolescent lung disease, and from the Colorado Newborn Screen Study (NBS) 172 subjects diagnosed with CF by newborn screening...
2017: PloS One
https://www.readbyqxmd.com/read/28504502/-transient-congenital-hypothyroidism-due-to-biallelic-defects-of-duox2-gene-two-clinical-cases
#18
Rosa E Enacán, María E Masnata, Fiorella Belforte, Patricia Papendieck, María C Olcese, Sofía Siffo, Laura Gruñeiro-Papendieck, Héctor Targovnik, Carina M Rivolta, Ana E Chiesa
Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases Mutations in the DUOX2 gene have been described in transient and permanent congenital hypothyroidism. Two brothers with congenital hypothyroidism detected by neonatal screening with eutopic gland and elevated thyroglobulin are described...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28502864/chagas-disease-in-europe-a-review-for-the-internist-in-the-globalized-world
#19
REVIEW
Spinello Antinori, Laura Galimberti, Roberto Bianco, Romualdo Grande, Massimo Galli, Mario Corbellino
Chagas disease (CD) or American trypanosomiasis identified in 1909 by Carlos Chagas, has become over the last 40years a global health concern due to the huge migration flows from Latin America to Europe, United States, Canada and Japan. In Europe, most migrants from CD-endemic areas are concentrated in Spain, Italy, France, United Kingdom and Switzerland. Pooled seroprevalence studies conducted in Europe show an overall 4.2% prevalence, with the highest infection rates observed among individuals from Bolivia (18...
May 11, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28502726/utility-of-nist-whole-genome-reference-materials-for-the-technical-validation-of-a-multigene-next-generation-sequencing-test
#20
Bennett O V Shum, Ilya Henner, Daniele Belluoccio, Marcus J Hinchcliffe
The sensitivity and specificity of next-generation sequencing laboratory developed tests (LDTs) are typically determined by an analyte-specific approach. Analyte-specific validations use disease-specific controls to assess an LDT's ability to detect known pathogenic variants. Alternatively, a methods-based approach can be used for LDT technical validations. Methods-focused validations do not use disease-specific controls but use benchmark reference DNA that contains known variants (benign, variants of unknown significance, and pathogenic) to assess variant calling accuracy of an NGS workflow...
May 11, 2017: Journal of Molecular Diagnostics: JMD
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