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Hird Beverly E - - 2013
Congenital adrenal hyperplasia (CAH) is not currently included in the UK newborn screening programme. We investigated the hypothesis that, owing to non-specificity of symptoms, a proportion of males affected by salt-wasting (SW) CAH have died in infancy without being diagnosed. Stored newborn screening blood spot samples were analysed for 17α-hydroxyprogesterone ...
Xu Yu - - 2013
Purpose: To analyze the incidence and severity of retinopathy of prematurity (ROP) in China, and to explore the workload implications of applying different criteria. Methods: A prospective, neonatal units based study undertaken in two tertiary level hospitals in Shanghai, China, from January 1, 2010 to December 31, 2012. All infants ...
Sahai I - - 2013
Newborn screening (NBS) using tandem mass spectrometry (MS/MS) permits detection of neonates with Glutaric Aciduria-Type II (GA-II). We report follow-up of positive GA-II screens by the New England Newborn Screening Program.Methods: 1.5 million infants were screened for GA-II (Feb 1999-Dec 2012). Specialist consult was suggested for infants with two or ...
Torkaman Mohammad M Department of Pediatrics, Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran, - - 2013
Congenital hypothyroidism (CHT) is one of the most common congenital endocrinal disorders. The prevalence of CHT is estimated about 1 in 3,000 newborns. The prevalence, etiology and associated disorders of abnormal thyroid screening tests are reported in different ranges. In this study, we assessed the pre-term newborns for CHT and ...
Ruffini E - - 2013
The adrenal hemorrhage is a relatively rare event in newborns but must be considered in the presence of a persistent unexplained jaundice, especially in presence of predisposing factors. Serial ultrasonography is the modality of choice for initial diagnosis and follow-up of neonatal adrenal hemorrhage. We report two cases of neonatal ...
Morris Mindy - - 2013
Purpose:Newborn screening includes testing for many metabolic diseases. False-positive results are higher among neonatal intensive care unit infants, resulting in increased confirmatory testing and family stress. Amino acid administration as a component of total parenteral nutrition is commonly used in the neonatal intensive care unit and suggested as a factor ...
Mahan Susan T - - 2013
Patients with idiopathic clubfoot are considered at increased risk for having developmental dysplasia of the hips (DDH). However, the studies showing this association have been relatively small. Many clinicians who treat idiopathic clubfoot routinely screen the hips of these patients with ultrasound or radiograph due to the concerns of increased ...
Moat Stuart J - - 2013
The currently recommended technologies of HPLC and isoelectric focusing for newborn blood spot screening for sickle cell disease (SCD) identify both the disease and carrier states, resulting in large numbers of infants being followed up unnecessarily. Analysis of blood spot tryptic peptides performed by using tandem mass spectrometry (MS/MS) is ...
Forman Eric J - - 2013
To determine whether performing elective single embryo transfer (eSET) after trophectoderm biopsy and rapid aneuploidy screening results in improved obstetrical and neonatal outcomes compared with transferring two untested embryos. The Blastocyst Euploid Selective Transfer (BEST) Trial enrolled infertile couples with a female partner up to age 42 who were undergoing ...
Allen Carolyn M - - 2013
Although the etiology of preterm birth is incompletely understood, phenotype classifications combined with recent technologies such as genome-wide association studies and next-generation sequencing could lead to discovering genotypes associated with preterm birth. Identifying genetic contributions will allow for genetic screening tests to predict or detect pregnancies with potential for preterm ...
Minowa Hideki - - 2013
Abstract Objective: To report the polygraphic findings of infants with respiratory inhibition after crying (RIAC). Methods: We screened for RIAC among infants with a gestational age ≥36 weeks using our established method with cranial ultrasonography, SpO2 monitoring and polygraphy. RIAC is defined as central apnea that occurred immediately after crying ...
McGurgan I J - - 2013
The past decade has seen the widespread introduction of universal neonatal hearing screening (UNHS) programmes worldwide. Regrettably, such a programme is only now in the process of nationwide implementation in the Republic of Ireland and has been largely restricted to one screening modality for initial testing; namely transient evoked otoacoustic ...
Weedn Ashley E - - 2013
Increased availability and usage of ultrasound screening have led to improved identification of fetal structural abnormalities prenatally. Few population-based studies have been published on prenatal detection for structural birth defects in the United States. The aim of this study is to determine the frequency of maternal reporting of abnormal prenatal ...
Wassner Ari J - - 2013
This review summarizes significant advances in the epidemiology, pathophysiology and treatment of congenital hypothyroidism, with a focus on thyroid dysfunction in preterm infants. Congenital hypothyroidism appears to be increasing in incidence, primarily due to increased stringency of screening strategies, with smaller contributions from changing demographics and improved survival of increasingly ...
Puvabanditsin S - - 2013
We report on a preterm male newborn with complete ectopia cordis associated with Cantrell's syndrome. The neonate had an ectopia cordis involving defects of the lower sternum, supraumbilical abdominal wall, anterior portion of the diaphragm, and diaphragmatic portion of the pericardium associated with complex congenital heart defects. The infant died ...
- - 2013
Although the advantages of newborn screening and the NHS sickle cell and thalassaemia screening programme in the UK has been well-documented ( Farrell et al 2011 ), the psychosocial effect on parents has largely been overlooked.
Cruz Adriana R - - 2013
Congenital syphilis (CS) is a major global public health problem. Buenaventura, a socioeconomically deprived municipality in the Colombian Pacific Coast, accounts for 6.6% of all CS cases in Colombia. To begin to understand the main reasons for the high rates of the disease in Buenaventura, we conducted a retrospective electronic ...
Sequi-Canet José M - - 2013
Most hospitals perform neonatal hearing screening because it is a very useful procedure. Otoacoustic emissions are an ideal technique for this screening. We analyse the possible influence on screening results of some perinatal factors. We collected retrospective data from 8,239 healthy newborns delivered vaginally at the maternity ward of our ...
Akahira-Azuma Moe - - 2013
Neonatal hyperbilirubinemia, especially kernicterus, can be prevented by screening for neonatal jaundice. The transcutaneous bilirubin (TcB) meter is a non-invasive medical device for screening neonates. The study aimed to investigate the validity of a TcB meter in a resource-limited setting such as Mongolia. Term and late preterm neonates from the ...
Nguyen The Thanh-Diem - - 2013
Newborn screening (NBS) for cystic fibrosis (CF) allows early intervention. Design of randomised controlled trials (RCT) is currently impeded by uncertainty regarding evolution of lung function, an important trial end point in such infants. To assess changes in pulmonary function during the first year of life in CF NBS infants. ...
Duley Lelia - - 2013
Deferring cord clamping allows blood flow between baby and placenta to continue for a few moments. This often leads to increased neonatal blood volume at birth. It also allows for longer transition to the neonatal circulation. Optimal timing for clamping the cord remains uncertain. This paper discusses the physiology of ...
Penfold Suzanne - - 2013
To review evidence from sub-Saharan Africa for the association between the practice or promotion of essential newborn care behaviours and neonatal survival. We searched MEDLINE for English language, peer-reviewed literature published since 2005. The study population was neonates residing in a sub-Saharan Africa country who were not HIV positive. Outcomes ...
Dursun Arzu - - 2013
Abstract Background: Congenital anomalies are one of the important reasons of mortality and morbidity in newborns. The aim of this study is to determine the incidence, distribution and the mortality of the congenital anomalies in a single neonatal intensive care unit from Turkey. Method: A retrospective analysis was performed between ...
Andrén Aronsson Carin - - 2013
Infant's age at introduction to certain complementary foods (CF) has in previous studies been associated with islet autoimmunity, which is an early marker for type 1 diabetes (T1D). Various maternal sociodemographic factors have been found to be associated with early introduction to CF. The aims of this study were to ...
Yoshinaga Masao - - 2013
-Neonatal electrocardiographic (ECG) screening is used to screen infants with prolonged QT intervals, as previously shown in Caucasians. However, this procedure needs to be confirmed in other ethnic groups. -In 8 areas in Japan, an ECG was recorded in 4285 infants at 1-month medical checks. A prospective study showed that ...
Andrews Jennifer Purvis - - 2013
In January of 2012, University of Arkansas for Medical Sciences began implementation of a critical congenital heart disease screening program to identify newborns with structural heart defects. The screening used motion tolerant pulse oximeters in direct sequence to measure the oxygen levels in the right hand and either foot of ...
Iyengar Hari - - 2013
The current pulse-oximetry screening (POS) protocol for detection of critical congenital heart defects (CCHDs) is recommended only for newborns in well-infant and intermediate care nurseries, and there is no evidence-based protocol for infants discharged from the neonatal intensive care unit (NICU). The objectives of this study were to examine the ...
Peterson Cora - - 2013
Critical congenital heart disease (CCHD) was recently added to the U.S. Recommended Uniform Screening Panel for newborns. States considering screening requirements may want more information about the potential impact of screening. This study examined potentially avoidable mortality among infants with late detected CCHD and assessed whether late detection was associated ...
Umboh S J - - 2013
The prevalence of postnatal depression (PND) was reported to be 6.8% in an obstetric setting in Singapore. Since primary care physicians are the healthcare clinicians most likely to interact with postnatal mothers in Singapore, they are in the best position to screen for PND and help new mothers. PND affects ...
Rehman Malik Abdur A Dr. Abdur Rehman Malik, MBBS, DCH, FCPS (Pediatrics), Senior Registrar, Department of Neonatology, Children Hospital and Institute of Child Health, Multan, - - 2013
Objective: The study was conducted to determine the etiology of seizures in neonates. Methods: This was a descriptive Cross-sectional study. This study was conducted at neonatal unit of children hospital and institute of child health Multan from June 2012 to April 2013. A total of 285 neonates who presented with ...
A Fucic - - 2013
Impact of intrauterine development on health risks during adolescence and adulthood still needs to be investigated. The aim of study was to compare genome damage in newborns and mothers using the cytokinesis blocked micronucleus assay, nuclear division index (NDI), and centromere fluorescence in situ hybridization. The study was performed on ...
McGann Patrick T - - 2013
Over 300,000 infants are born annually with sickle cell anemia (SCA) in sub-Saharan Africa, and 80-90% die young from infection or anemia, usually without diagnosis of SCA. Early identification by newborn screening, followed by simple interventions dramatically reduced the mortality of SCA in the US, but this strategy is not ...
Spijkers-Hagelstein J A P - - 2013
Successful treatment results for MLL-rearranged Acute Lymphoblastic Leukemia in infants remain difficult to achieve. Significantly contributing to therapy failure is poor response to glucocorticoids (GCs), like prednisone. Thus, overcoming resistance to these drugs may be a crucial step towards improving prognosis. We defined a gene signature that accurately discriminates between ...
Heidendael J F - - 2013
Newborn screening for cystic fibrosis enables early diagnosis and treatment, leading to better outcomes for patients with cystic fibrosis. Although the sensitivity of several screening protocols is high, false negative screening results of the newborn patient still occur, which can lead to a significant delay in diagnosis when the awareness ...
Dawson April L - - 2013
OBJECTIVES:Critical congenital heart disease (CCHD) was recently added to the US Recommended Uniform Screening Panel for newborns. This study assessed whether maternal/household and infant characteristics were associated with late CCHD detection.METHODS:This was a statewide, population-based, retrospective, observational study of infants with CCHD born between 1998 and 2007 identified by using ...
Ewer Andrew K - - 2013
Screening with pulse oximetry for critical congenital heart defects is the subject of much recent debate. This review will explore the recent evidence for screening and discuss how implementation of screening might be best achieved.
Siqueira Santos Rosana Francisco - - 2013
Background/Aims: Cronobacter spp. have been identified as being of considerable risk to neonates. The occurrence of organisms in infant formulas is therefore of considerable interest. Methods: The occurrence of Cronobacter spp. in infant feeds (formulas and fortified cow's milk) was determined using most probable number (MPN) analysis, and from formula ...
Peterson Cora - - 2013
OBJECTIVES:Clinical evidence indicates newborn critical congenital heart disease (CCHD) screening through pulse oximetry is lifesaving. In 2011, CCHD was added to the US Recommended Uniform Screening Panel for newborns. Several states have implemented or are considering screening mandates. This study aimed to estimate the cost-effectiveness of routine screening among US ...
Mahoney Ashley Darcy - - 2013
Autism spectrum disorders (ASDs) are increasingly recognized as a public health problem. According to the Centers for Disease Control and Prevention, the prevalence for ASD is now 1 in 88. The prevalence of ASDs in children has increased over the past 2 decades, nearly doubling the prevalence since the Centers ...
Tay Manjun - - 2013
Reports of infant milk formula adulteration by detergent powders as economic frauds and poisoning incidents are common as detergents are readily available and are inexpensive household items. Liquid chromatography (LC)-Qtrap and LC-hybrid quadrupole time-of-flight mass spectrometry (LC-QTOF-MS) in combination with chemometrics were effectively employed to detect the presence of detergent ...
Yin Yu-Zhu - - 2013
This study aimed at developing strategies for screening, predicting, and diagnosing intrauterine HBV infection in infants born to HBsAg positive mothers. A total of 1,360 infants born to 1,355 HBsAg positive mothers were followed for 1 year. All newborn infants received active and passive immunization within 24 hr after birth. Maternal ...
Garg Lorraine F - - 2013
BACKGROUND AND OBJECTIVE:New Jersey was the first state to implement legislatively mandated newborn pulse oximetry screening (POxS) in all licensed birthing facilities to detect critical congenital heart defects (CCHDs). The objective of this report was to evaluate implementation of New Jersey's statewide POxS mandate.METHODS:A 2-pronged approach was used to collect ...
Christensen Robert D - - 2013
Fresh-frozen plasma (FFP) is sometimes administered to nonbleeding preterm neonates who are judged to be at risk for bleeding because they have abnormal coagulation tests. The benefits/risks of this practice are not well defined. One limitation to progress is lack of reference intervals for the common coagulation tests, thus limiting ...
Kapoor Seema - - 2013
The year 2013 marks 50 years of both newborn screening and the Indian Academy of Pediatrics. India has seen a lot of change in terms of motivation, evolution and implementation of newborn screening as pilot projects for few disorders. Facilities for implementing screening using tandem mass spectrometry or what is ...
van Sorge A J - - 2013
To develop a new national screening guideline for retinopathy of prematurity (ROP). Included were infants of the 2009 prospective ROP inventory in The Netherlands with gestational age (GA) <32 weeks and/or birth weight (BW) <1500 g. Five models were studied, based on GA and BW in combination with no, one ...
Mernelius S - - 2013
Staphylococcus aureus is detected by direct plating, whereas incubation in enrichment broth prior to plating to increase the proportion of positive samples has not been fully evaluated. S. aureus throat colonization has been suggested to be more common than colonization of the anterior nares, but no data are available on ...
Anderson Sharon - - 2013
Disorders of mitochondrial fatty acid b-oxidation should be considered in any infant who presents with unexplained hypoglycemia and/or myopathy. Although disorders of trifunctional protein (TFP) complex including long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial TFP deficiencies are extremely rare, the combined incidence of mitochondrial fatty acid disorders is quite frequent. With ...
Kwan Antonia A Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA 94143-0519, - - 2013
Assay of T-cell receptor excision circles (TRECs) in dried blood spots obtained at birth permits population-based newborn screening (NBS) for severe combined immunodeficiency (SCID). We sought to report the first 2 years of TREC NBS in California. Since August 2010, California has conducted SCID NBS. A high-throughput TREC quantitative PCR ...
Sundercombe Samantha L - - 2013
This study aims to evaluate adherence to a clinical guideline for screening and prevention of neonatal hypoglycaemia on the post-natal wards. Retrospective chart review of 581 healthy term neonates born at a tertiary maternity hospital. Indications for hypoglycaemia screening included small for gestational age (SGA), infants of diabetic mothers (IDM; ...
Austeng Dordi - - 2013
Purpose:  The primary aim was to analyse regional incidences of retinopathy of prematurity (ROP) and frequencies of treatment and their relation to perinatal risk factors during a 3-year period. A secondary aim was to study adherence to the study screening protocol in the different regions. Methods:  A population-based study of ...
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