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neonatal screening

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https://www.readbyqxmd.com/read/28533035/trajectories-of-externalizing-and-internalizing-behaviors-in-preterm-children-admitted-to-a-neonatal-intensive-care-unit
#1
Emily D Gerstein, Ashley C Woodman, Cynthia Burnson, Erika R Cheng, Julie Poehlmann-Tynan
OBJECTIVE: To examine the trajectories of internalizing and externalizing behavior problems of preterm children between 16 months and 6 years of age and predictors of trajectories, including gestational age, child dysregulation, maternal depression, socioeconomic status, and parenting. STUDY DESIGN: This longitudinal study followed 148 children and their mothers from neonatal intensive care unit discharge until 6 years of age. Gestational ages ranged from 23 to 36 weeks...
May 19, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28532504/vineland-adaptive-behavior-scales-to-identify-neurodevelopmental-problems-in-children-with-congenital-hyperinsulinism-chi
#2
Maria Salomon-Estebanez, Zainab Mohamed, Maria Michaelidou, Hannah Collins, Lindsey Rigby, Mars Skae, Raja Padidela, Stewart Rust, Mark Dunne, Karen Cosgrove, Indraneel Banerjee, Jacqueline Nicholson
BACKGROUND: Congenital Hyperinsulinism (CHI) is a disease of severe hypoglycaemia caused by excess insulin secretion and associated with adverse neurodevelopment in a third of children. The Vineland Adaptive Behavior Scales Second Edition (VABS-II) is a parent report measure of adaptive functioning that could be used as a developmental screening tool in patients with CHI. We have investigated the performance of VABS-II as a screening tool to identify developmental delay in a relatively large cohort of children with CHI...
May 22, 2017: Orphanet Journal of Rare Diseases
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
#3
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/28525876/discrete-category-of-mother-to-infant-bonding-disorder-and-its-identification-by-the-mother-to-infant-bonding-scale-a-study-in-japanese-mothers-of-a-1-month-old
#4
Asami Matsunaga, Fumie Takauma, Katsuhiko Tada, Toshinori Kitamura
BACKGROUND: Difficulty of maternal bonding towards a baby is widely recognised. It is unclear whether this phenomenon is dimensional or categorical. If categorical, an optimal cut-off score of a screening instrument is needed in clinical settings. AIMS: In this study, we investigated whether maternal bonding is dimensional or categorical phenomenon and try to set optimal cut-off score of screening instruments. METHODS: Self-report questionnaire studies were conducted in a general hospital and four antenatal clinics...
May 16, 2017: Early Human Development
https://www.readbyqxmd.com/read/28522856/diagnosing-congenital-malaria-in-a-high-transmission-setting-clinical-relevance-and-usefulness-of-p-falciparum-hrp2-based-testing
#5
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/28520780/towards-a-point-of-care-strip-test-to-diagnose-sickle-cell-anemia
#6
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/28520325/-newborn-infants-first-outpatient-visit
#7
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/28516189/improving-the-rigour-of-vacterl-screening-for-neonates-with-anorectal-malformations
#8
Richard John England, Bala Eradi, Govind V Murthi, Jonathan Sutcliffe
PURPOSE: Screening investigations for the vertebral, anorectal, cardiac, tracheo-oesophageal, renal and limb (VACTERL) association form an important part of the management of neonates with anorectal malformations (ARMs). We developed a proforma to define investigations and indications for referral. The aim of the current study was to determine if the proforma could improve screening rigour. METHODS: Four centres performed a 3-year retrospective audit of neonates with ARM...
May 17, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28515472/carrier-frequency-of-wilson-s-disease-in-the-korean-population-a-dna-based-approach
#9
Ja-Hyun Jang, Taeheon Lee, Sunghee Bang, Young-Eun Kim, Eun-Hae Cho
Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present study, we screened 14 835 dried blood spots (DBSs) from asymptomatic Korean neonates and retrospectively reviewed massively parallel sequencing of 1090 control individuals to estimate carrier frequency. TaqMan real-time PCR assays were conducted to detect six mutations that account for 58.3% of mutations in Korean WD patients: c.2333G>T (p.Arg778Leu), c...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28514938/characterization-and-standardization-of-cultured-cardiac-fibroblasts-for-ex-vivo-models-of-heart-fibrosis-and-heart-ischemia
#10
Yue Zhou, Arthur Mark Richards, Peipei Wang
A full understanding of cardiac fibroblast (cFB) biology is essential to study the adverse cardiac remodeling and recovery of myocardium infarction. However, compared to cardiac myocytes, cFB are less well-characterized. Important questions including the variability introduced by cell age (neonatal vs. adult), culture conditions (passage, plate coating and culture medium), and responses to stimuli (e.g. hypoxia and drug treatments) have not been well addressed and standardization of techniques is lacking. This variability invites inconsistency and the confounding of study conclusions...
May 17, 2017: Tissue Engineering. Part C, Methods
https://www.readbyqxmd.com/read/28510692/disseminated-neonatal-herpes-simplex-virus-type-1-after-a-water-birth
#11
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/28506597/a-practice-pattern-assessment-of-members-of-the-society-of-pediatric-urology-for-evaluation-and-treatment-of-urinary-tract-dilation
#12
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/28506343/-current-status-of-research-on-infantile-cholestatic-liver-disease-in-china-a-visualization-analysis
#13
Qiong Liao, Chao-Min Wan, Yu Zhu, Xiao-Yan Yang, Min Shu
OBJECTIVE: To investigate the current status of research on infantile cholestatic liver disease in China and future research trends. METHODS: A co-word analysis was performed in October 2016. Document retrieval and screening were performed in the Chinese databases CNKI and Wanfang Data using "cholestasis" and "infant" as key words. Excel 2010 was used to establish a co-occurrence matrix of high-frequency key words, and Ucinet 6.0 and Netdraw were used to develop a visualized network of these high-frequency key words...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28505190/dynamic-interaction-between-fetal-adversity-and-a-genetic-score-reflecting-dopamine-function-on-developmental-outcomes-at-36-months
#14
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/28505178/a-reverse-dot-blot-assay-for-the-screening-of-twenty-mutations-in-four-genes-associated-with-nshl-in-a-chinese-population
#15
Siping Li, Qi Peng, Shengyun Liao, Wenrui Li, Qiang Ma, Xiaomei Lu
BACKGROUND: Congenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are caused by defects in a limited number of genes. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required. METHODS: We developed a PCR-reverse dot blot (RDB) assay for screening 20 hotspot mutations of GJB2, GJB3, SLC26A4, and MT-RNR1, which are common non-syndromic hearing loss (NSHL)-associated genes in the Chinese population...
2017: PloS One
https://www.readbyqxmd.com/read/28504502/-transient-congenital-hypothyroidism-due-to-biallelic-defects-of-duox2-gene-two-clinical-cases
#16
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/28502584/up-regulation-of-mir-325-3p-suppresses-pineal-aralkylamine-n-acetyltransferase-aanat-after-neonatal-hypoxia-ischemia-brain-injury-in-rats
#17
Yuanyuan Yang, Bin Sun, Jian Huang, Lixiao Xu, Jian Pan, Chen Fang, Mei Li, Gen Li, Yanfang Tao, Xiaofeng Yang, Ying Wu, Po Miao, Ying Wang, Hong Li, Jing Ren, Meiqin Zhan, Yiping Fang, Xing Feng, Xin Ding
Survivors of hypoxic-ischemic brain damage (HIBD), besides impairment of psychomotor development, often develop circadian rhythm disorders, although the underlying mechanisms are largely unknown. Here, we first verified that mRNA and protein expression of pineal aralkylamine N-acetyltransferase (Aanat), a key regulator for melatonin (MT) synthesis, along with MT, were severely impaired after HIBD. In addition, we demonstrated that neonatal HIBD disrupted the circadian rhythmicity of locomotor activities in juvenile rats...
May 11, 2017: Brain Research
https://www.readbyqxmd.com/read/28499796/the-antenatal-urinary-tract-dilation-classification-system-accurately-predicts-severity-of-kidney-and-urinary-tract-abnormalities
#18
C D W Kaspar, M Lo, T E Bunchman, N Xiao
BACKGROUND: Urinary tract dilation (UTD) is a commonly diagnosed prenatal condition; however, it is currently unknown which features lead to benign and resolving or pathologic abnormalities. A consensus UTD classification system (antenatal UTD classification, UTD-A) was created by Nguyen et al. in 2014 [1], but has not yet been validated. OBJECTIVE: To evaluate the ability of the UTD-A system to identify kidney and urinary tract (KUT) abnormalities, assess whether UTD-A can predict severity of KUT conditions, and perform a cost analysis of screening ultrasound (US)...
April 21, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28498829/biotinidase-deficiency-genotype-biochemical-phenotype-association-in-brazilian-patients
#19
Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
INTRODUCTION: The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity. METHODS: All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity. For each patient, the expected biochemical phenotype based on the known genotype was compared with the observed biochemical phenotype...
2017: PloS One
https://www.readbyqxmd.com/read/28495235/prenatal-detection-of-megacystis-not-always-an-adverse-prognostic-factor-experience-in-25-consecutive-cases-in-a-tertiary-referral-center-with-complete-neonatal-outcome-and-follow-up
#20
Marcella Pellegrino, Daniela Visconti, Vincenzo Davide Catania, Luisa D'Oria, Carlo Manzoni, Maria Giovanna Grella, Alessandro Caruso, Lucia Masini, Giuseppe Noia
INTRODUCTION: Megacystis is a condition of abnormal enlarged fetal bladder for gestational age, which is usually associated with urological malformations that may constitute a life-threatening condition for the baby. OBJECTIVE: The purpose of this study was to assess the prognostic and etiological criteria of fetal megacystis and to describe the neonatal outcome in a large series collected in a single tertiary center. STUDY DESIGN: A retrospective observational study was conducted between 2008 and 2012...
April 14, 2017: Journal of Pediatric Urology
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