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Lee Ni-Chung - - 2010
Carnitine uptake defect (CUD) is an autosomal recessive fatty acid oxidation defect caused by a deficiency of the high-affinity carnitine transporter OCTN2. CUD patients may present with hypoketotic hypoglycemia, hepatic encephalopathy or dilated cardiomyopathy. Tandem mass spectrometry screening of newborns can detect CUD, although transplacental transport of free carnitine from ...
Hennermann Julia B - - 2009
Glutaric aciduria type I (GA I), an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase, leads to encephalopathic crises resulting in irreversible neurological damage. As early diagnosis and implementation of appropriate treatment has significant benefit for these patients, GA I has been implemented in the extended newborn screening program in several countries. Screening parameter ...
Tasci Y - - 2010
BACKGROUND: Universal neonatal hearing screening programmes are encouraged to define and manage hearing loss in early ages of life. The aim of this study is to introduce our 14-month three-step hearing screening programme results with 16 975 births in Turkey. METHODS: In healthy neonates, Transient Evoked Otoacoustic Emission (TEOAE) is ...
Routes John M - - 2009
CONTEXT: A newborn blood screening (NBS) test that could identify infants with a profound deficiency of T cells may result in a reduction in mortality. OBJECTIVE: To determine if quantitating T-cell receptor excision circles (TRECs) using real-time quantitative polymerase chain reaction on DNA extracted from dried blood spots on NBS ...
Tanon-Anoh M J - - 2010
OBJECTIVE: To investigate the feasibility of neonatal hearing impairment in newborn babies in Abidjan, C?te d'Ivoire. METHODS: It is a cross-sectional study in which all infants aged from 3 to 28 days, attending for Bacille Calmette-Guerin (BCG) immunization in primary care centers or hospitalized in neonatal intensive care units (NICU), ...
Lin Henry J - - 2009
A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.
Tanzer F - - 2009
Biotin, a water-soluble vitamin, is used as a co-factor by enzymes involved in carboxylation reactions. It functions as the carboxyl carrier for biotin-dependent carboxylases. These enzymes catalyze gluconeogenesis, fatty acid metabolism and amino acid catabolism, thus biotin plays an essential role in maintaining metabolic homeostasis. Biotinidase deficiency is an inherited ...
Chien Yin-Hsiu - - 2009
OBJECTIVE: Pompe disease causes progressive, debilitating, and often life-threatening musculoskeletal, respiratory, and cardiac symptoms. Favorable outcomes with early intravenous enzyme-replacement therapy and alglucosidase alfa have been reported, but early clinical diagnosis before the development of severe symptoms has rarely been possible in infants. METHODS: We recently conducted a newborn screening ...
Olusanya Bolajoko O - - 2010
The present cross-sectional study set out to determine the nutritional status of infants aged 0-3 months with the WHO Multicentre Growth Reference (WHO-MGR) and examine the relationship between undernutrition and congenital or early-onset sensorineural hearing loss (CESHL) rarely reported for developing countries. The nutritional status of all infants attending community-based ...
Kuelling Barbara - - 2009
In Switzerland, the screening of neonates for congenital heart defects (CHD) by using pulse oximetry (PO) on the first day of life was recommended in 2005. We assessed the current practice of Swiss maternity units regarding PO screening to define the actual screening rate in Switzerland and to detect possible ...
Gan-Schreier Hongying - - 2010
OBJECTIVE: To allow early recognition of cystathionine beta-synthase by newborn screening. STUDY DESIGN: Total homocysteine was determined in dried blood spots with a novel, robust high-performance liquid chromatography method with tandem mass spectrometry. Quantification of homocysteine was linear over a working range up to 50 micromol/L. For mutation analysis, DNA ...
Arnold Georgianne L - - 2010
INTRODUCTION: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common inborn errors of metabolism. Affected patients have impaired ability to break down medium chain fatty acids during fasting, and typically present in the early years of life with hypoketotic hypoglycemia, Reye syndrome-like symptoms, brain damage or death. ...
Slaughter Jonathan L - - 2010
Honduran infant mortality (20/1000) has fallen below the Latin American newborn screening target rate (<30/1000). The authors report 2 Honduran maple syrup urine disease cases and a newborn screening pilot study. The first infant, diagnosed by plasma/urine testing in the U.S., prompted this study. Although marked clinical/radiological improvement occurred after ...
Schwartz Peter J - - 2009
The prevalence of genetic arrhythmogenic diseases is unknown. For the long-QT syndrome (LQTS), figures ranging from 1:20 000 to 1:5000 were published, but none was based on actual data. Our objective was to define the prevalence of LQTS. In 18 maternity hospitals, an ECG was performed in 44 596 infants ...
Ohl Christine - - 2009
OBJECTIVES: This article presents the results of newborn hearing screenings on infants at risk of hearing impairment at the French University Hospital of Besançon from 2001 to 2007. MATERIALS AND METHODS: All newborns at risk of hearing impairment were tested according to the method recommended by the Joint Committee on ...
Andrews Janet I - - 2009
OBJECTIVE: The purpose of this study was to determine the most sensitive strategy for the detection of Staphylococcus aureus among pregnant women and newborn infants. STUDY DESIGN: We obtained cultures for S aureus from 5 body sites of women at 35-37 weeks' gestation. We obtained cultures from their newborn infants ...
Krishnan Lata A - - 2009
PURPOSE: To evaluate the referral and follow-up procedures at a university clinic to determine whether the early intervention program is achieving the goals of diagnosis of hearing loss by 3 months, amplification within 1 month of diagnosis, and intervention services by 6 months, as outlined in the Joint Committee on ...
Karmazyn Boaz K - - 2009
Developmental dysplasia of the hip (DDH) affects 1.5 of every 1,000 caucasian Americans and less frequently affects African Americans. Developmental dysplasia of the hip comprises a spectrum of abnormalities, ranging from laxity of the joint and mild subluxation to fixed dislocation. Early diagnosis of DDH usually leads to low-risk treatment ...
Schwarz Elisabeth - - 2009
Newborn screening allows the diagnosis of congenital adrenal hyperplasia (CAH) before symptoms appear, preventing the severe and potentially life-threatening crisis associated with this disease in infancy. Traditional screening by enzyme immunoassay results in a large number of false positives. To reduce the number of unnecessary tests, anxiety to families and ...
Dani Carlo - - 2009
BACKGROUND: Despite the improvement in the assistance and treatment of preterm infants, intraventricular hemorrhage (IVH) remains a frequent complication in these patients. Our aim was to demonstrate the hypothesis that a coagulopathy screening and the early treatment with fresh-frozen plasma (FFP) of proven coagulopathy may contribute to decrease the occurrence ...
Wilcken Bridget - - 2009
OBJECTIVE: Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We studied the clinical outcome at six years of age in Australia. METHODS: In a cohort study, we analyzed the outcome at 6 years for patients detected by screening or by ...
Sklansky Mark S - - 2009
OBJECTIVE: The purpose of this study was to determine the relative importance of the 4-chamber view (4CV) compared with the outflow tract views (OFTVs) in prenatal screening for major congenital heart disease (CHD). METHODS: We prospectively evaluated 200 consecutive infants undergoing cardiac surgery at our institution for major CHD. By ...
Miller Fiona A - - 2009
Newborn screening has been practised as a form of preventive medicine since the 1960s, and has attracted increased attention in recent years as technological capacities expand. Like other emerging economies, India faces pressure to expand infant screening, though developments have been halting. The promise of newborn screening is the reduction ...
Olusanya Bolajoko O - - 2009
OBJECTIVE: To determine the characteristics of infants with sensorineural hearing loss (SNHL) and the relationship with place of birth. METHODS: Subjects were drawn from hospital-based and community-based universal infant hearing screening programs concurrently conducted from May 2005 to April 2008 in Lagos, Nigeria. Maternal and infant characteristics of children born ...
Olusanya B O - - 2009
AIM: To establish the incidence and predictors of sensorineural hearing loss (SNHL) in infants with neonatal jaundice (NNJ) in an inner-city setting with predominantly non-hospital births. METHODS: A community-based study in Lagos, Nigeria in which infants with SNHL attending well-child clinics for routine immunisation were detected by two-stage universal hearing ...
Rangel Erika L - - 2009
PURPOSE: Minority and disadvantaged children are evaluated for nonaccidental trauma (NAT) at higher rates than other children. At our institution, we implemented a guideline to perform skeletal surveys to screen for occult fractures in all infants with unwitnessed head injury (UHI). The goal was to determine if this guideline decreased ...
Vander Werff Kathy R - - 2009
OBJECTIVE: A clinical protocol for diagnosing hearing loss (HL) in infants designed to meet early intervention guidelines was used with the goals of providing normative data for (1) frequency-specific tone burst auditory brain stem response (TBABR) thresholds by air conduction (AC) and bone conduction (BC) in early infancy used to ...
Prieve Beth A - - 2009
OBJECTIVE: Current Joint Committee on Infant Hearing guidelines recommend the use of transient-evoked otoacoustic emissions (TEOAEs) as a screening tool to identify hearing loss for newborns cared for in the well-baby nursery. Newborns who do not pass the TEOAE screen before leaving the hospital are typically rescreened as outpatients by ...
Baker Mei W - - 2009
BACKGROUND: Severe combined immunodeficiency (SCID) is characterized by the absence of functional T cells and B cells. Without early diagnosis and treatment, infants with SCID die from severe infections within the first year of life. OBJECTIVE: To determined the feasibility of detecting SCID in newborns by quantitating T-cell receptor excision ...
Cavarzere Paolo - - 2009
OBJECTIVE: Neonatal screening for congenital adrenal hyperplasia (CAH) is characterized by a high false-positive rate, mainly among preterm and low birth weight infants. The aims of this study were to describe a subgroup of infants with transient serum hyper-17-hydroxyprogesteronemia (hyper-17-OHPemia) and to compare them with false positive and affected by ...
Sanyelbhaa Talaat Hossam - - 2009
Auditory neuropathy is a challenging disorder and needs special habilitative/rehabilitative approach. This study aimed to detect its prevalence among infants and young children with severe to profound hearing loss. 112 infants and young children with age ranged 6-32 months were examined and diagnosed as having severe to profound hearing loss ...
O'Grady M J - - 2010
OBJECTIVE: To ascertain the current approach to screen for developmental dysplasia of the hip in the Republic of Ireland. METHODS: Two-pronged prospective and retrospective study. (1) Postal questionnaire to consultant paediatricians responsible for the routine neonatal care of infants in the Irish Republic in June 2006. (2) Retrospective database review ...
Colozza Patrícia - - 2009
CONTEXT AND OBJECTIVE: Infant hearing deficiency is a human disorder with devastating effects and serious implications for the development of speech and language. Early diagnosis of hearing loss should be the objective of a multidisciplinary team, and early-intervention programs should immediately follow this. The aim of this study was to ...
Paton R W - - 2009
In a prospective study over 11 years we assessed the relationship between neonatal deformities of the foot and the presence of ultrasonographic developmental dysplasia of the hip (DDH). Between 1 January 1996 and 31 December 2006, 614 infants with deformities of the foot were referred for clinical and ultrasonographic evaluation. ...
Nyhan W L - - 2009
Expanded programmes of newborn screening permit early diagnosis in time to prevent serious complications. These programmes have begun to detect patients who might otherwise remain asymptomatic. An additional confounding variable is the positive screen that results from maternal rather than neonatal disease. This was the case in an infant in ...
Korzeniewski S J - - 2010
OBJECTIVE: To match Michigan birth and newborn screening records to identify and follow-up potentially unscreened infants, assess data quality, and demonstrate the utility of Link Plus linkage software for matching MCH related administrative datasets. METHODS: Birth and newborn screening records maintained by the Michigan Department of Community Health from January ...
Kaga Kimitaka - - 2009
CONCLUSION: We regard spontaneous otoacoustic emission (SOAE) as a unique phenomenon due to spontaneous outer hair cell hyperactivity during the infantile period in these two infants. OBJECTIVES: We report the cases of SOAEs in two infants, which were audible to their parents. We were able to hear continuous sounds from ...
Hicks Matthew - - 2009
OBJECTIVES: To examine the conditions under which mothers would consent to alcohol and drug screening of their infants, and to identify predictors of screening consent. METHODS: A cross-sectional survey was administered in person by trained research assistants on the postpartum units of three hospitals in a large Canadian urban centre ...
Lam Christa - - 2009
The acousticphonetic features of infant-directed speech (IDS) were measured during face-to-face interactions between mothers and their six-month-old normal hearing infants (N=32) using a setup in which the mother and infant are seated in separate rooms and interact over their respective video monitors. There were two sound conditions, (i) a hearing ...
Zack Elizabeth - - 2009
Infants learn less from a televised demonstration than from a live demonstration, the video deficit effect. The present study employs a novel approach, using touch screen technology to examine 15-month olds' transfer of learning. Infants were randomly assigned either to within-dimension (2D/2D or 3D/3D) or cross-dimension (3D/2D or 2D/3D) conditions. ...
Olusanya B O - - 2009
BACKGROUND: To evaluate three-year outcomes of a pilot community-based universal newborn/infant hearing screening programme (UNHS) and the associated factors in a low-income country where a high proportion of births occur outside hospitals. METHODS: A two-stage screening programme consisting of a first-stage transient evoked otoacoustic emissions and a second-stage automated auditory ...
Cordero L - - 2009
OBJECTIVE: To examine our experience with ANH and to determine the success of our postnatal follow-up program. STUDY DESIGN: Charts of mothers and infants seen (2004 to 2008) at our Regional Perinatal Center were reviewed retrospectively. ANH was defined during the third trimester by anterior pelvic diameters as follows: mild ...
Myers J - - 2009
Since September 1964, neonates born in New Plymouth have undergone clinical examination for instability of the hip in a structured clinical screening programme. Of the 41 563 babies born during this period, 1639 were diagnosed as having unstable hips and 663 (1.6%) with persisting instability were splinted, five of which ...
Norman Richard - - 2009
OBJECTIVE: The goal was to investigate the cost-effectiveness of tandem mass spectrometry screening for the detection of inborn metabolic errors in an Australian setting. METHODS: Cost-effectiveness analysis from the health service perspective was undertaken on the basis of registry data for affected individuals. The intervention group was contrasted with both ...
Swanepoel DeWet - - 2009
Early hearing detection and intervention programs have become the standard of care to ensure optimal outcomes for infants with hearing loss, their families and society at large. The overwhelming majority of infants with congenital or early-onset permanent bilateral hearing loss are however born in developing countries like South Africa where ...
Jakubíková Janka - - 2009
OBJECTIVE: More than 80% of permanent hearing losses (HL) in children are congenital. Newborn hearing screening (NHS) is the best method for early detection of suspected hearing loss. If the NHS is not universal more than 30% permanent hearing losses are not identified. There are various methods of NHS: otoacoustic ...
Dauman René - - 2009
OBJECTIVES: The focus of this report is hearing screening of newborns transferred from the regular nursery to a specialized area. The purpose of the study undertaken was: (1) to determine whether screening coverage in this population was achieved; (2) to establish whether the linkage between neonatal screening and the diagnostic ...
Noh Hyung Wook - - 2009
Hearing loss is one of the most common birth defects among infants. Most hearing-impaired children are not diagnosed until one to three years of age, which is too late to treat for normal speech and language development. If hearing impairment is identified and treated in its early stage, a child's ...
Chang Kay W - - 2009
OBJECTIVE: Examination of neonatal hearing screening practices around the world suggests that more attention is placed on infants who fail bilaterally on their hearing screen than infants who refer (fail) in one ear. Some programmes only report bilateral failures as positive hearing screens. This study investigates how limitations of the ...
Bain B J - - 2009
Neonatal/newborn haemoglobinopathy screening is being performed in an increasing number of European countries since changing patterns of immigration have led to significant numbers of neonates at risk of sickle cell disease. The purpose of screening is to improve management of sickle cell disease through early parental education and the institution ...
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