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Ribeiro Maísa Aparecida - - 2010
OBJECTIVE: To evaluate the geographic distribution of human T-lymphotropic virus types 1 and 2 (HTLV-1/2) in the State of Minas Gerais, Brazil, in puerperal women whose newborns were tested for HTLV-1/2 during neonatal screening, and to overlap seropositivity with social and economic status determinants. METHODS: During September-November 2007, the dry-blood ...
Massie John - - 2010
Objectives Newborn screening for cystic fibrosis (CF) facilitates early diagnosis and genetic counselling for parents of affected infants. Many parents elect to use prenatal testing for subsequent pregnancies, and this may affect the prevalence of CF. The aim of this study was to assess the evidence for changes in the ...
Pillai Anand - - 2011
Ultrasound examination of infant hips is a widely used and accepted tool for the diagnosis and monitoring of developmental dysplasia of the hip. Its use and timing is still a focus of debate and its diagnostic accuracy has not been fully investigated. We have compared the ultrasound findings by the ...
- - 2010
Congenital hearing loss affects two to three infants per 1,000 live births. Undetected hearing loss can delay speech and language development. A total of 41 states, Guam, and the District of Columbia have statutes or regulatory guidance to identify infants with hearing loss. All states and U.S. territories also have ...
Hiraki Susan - - 2010
Newborn screening is a complex public health program that has been very successful at significantly reducing infant morbidity and mortality from specific genetic conditions. As this program continues to expand, the role of the obstetrician as patient educator has become increasingly important. The need and desire for prenatal education about ...
Gaffney Marcus - - 2010
Newborn hearing screening programs have been implemented by all 50 states and most U.S. territories to detect hearing loss in infants and prevent delays in speech, language, and social and emotional development. To monitor progress toward national goals, the Centers for Disease Control and Prevention (CDC) collects data from state ...
Moreno-Aguirre Alma Janeth - - 2010
Approximately 2-4 % of newborns with perinatal risk factors present hearing loss. The aim of this study was to analyse the auditory function in infants with perinatal brain injury (PBI). Brainstem auditory evoked potentials (BAEPs), auditory steady state responses (ASSRs), and tympanometry studies were carried out in 294 infants with ...
Chen Xueqing - - 2010
CONCLUSION: Most of the infants demonstrated rapid improvement in the three different auditory skills within the first year after switch-on. Infants undergoing hearing aid trial and habilitation demonstrated a significant positive effect on the development of auditory skills in comparison with infants without trial and habilitation. OBJECTIVE: This paper aims ...
Cahill Alison G - - 2010
The purpose of this study was to estimate which strategy is the most cost-effective for the prevention of preterm birth and associated morbidity. We used decision-analytic and cost-effectiveness analyses to estimate which of 4 strategies was superior based on quality-adjusted life-years, cost in US dollars, and number of preterm births ...
El-Hattab Ayman W - - 2010
BACKGROUND: Systemic primary carnitine deficiency is an autosomal recessive disorder of the carnitine cycle caused by mutations in the SLC22A5 gene that encodes the carnitine transporter, organic cation transporter. Systemic primary carnitine deficiency typically presents in childhood with either metabolic decompensation or cardiomyopathy. We report five families in which low ...
Sands Dorota - - 2010
The different clinical manifestations of cystic fibrosis, with variable intensity and timing, often delay the diagnosis of this genetic autosomal recessive disorder. Many countries have introduced newborn screening for cystic fibrosis to facilitate diagnosis prior to the development of the disease. The advantages and harms of such screening programmes are ...
Chang Ruey-Kang R - - 2010
OBJECTIVES: The aim of this study was to evaluate current opinions toward screening infants for long QT syndrome (LQTS) by electrocardiogram (ECG) among pediatric cardiologists in North America. BACKGROUND: Research from Italy shows that ECG screening of infants for LQTS is cost-effective. METHODS: E-mail invitations were sent to 1045 pediatric ...
Olusanya Bolajoko O - - 2010
OBJECTIVE: To determine the perinatal profile and developmental risks of very low birth weight (VLBW) infants (<or=1500 g) under a universal hearing screening programme in a resource-poor country. METHODS: A case-control study of VLBW survivors matched by date of birth and sex with normal birth weight (>or=2500 g) infants delivered ...
Luo Yuyan - - 2010
Twelve-month-olds realize that when an agent cannot see an object, her incomplete perceptions still guide her goal-directed actions. What would happen if the agent had incomplete perceptions because she could see only one part of the object, for example one side of a screen? In the present research, 16-month-olds were ...
Bagatto Marlene - - 2010
This document describes the protocol for the provision of amplification to infants and preschool children registered with the Ontario infant hearing program (OIHP) in Canada. The provision of amplification includes the prescription and dispensing of hearing instruments to infants and preschool children identified with permanent childhood hearing impairment (PCHI) in ...
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 ...
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