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Jonas Richard A - - 2010
There have been numerous advances in all of the associated subspecialty areas necessary for successful congenital cardiac surgery over the last 2 decades. Within the operating room itself, advances have occurred in instrumentation, prosthetics and biomaterials, surgical optics including loupes, and fiberoptic lighting. However, some of the most important advances ...
Coenraad S - - 2010
To evaluate independent etiologic factors associated with sensorineural hearing loss in infants who have been admitted to the neonatal intensive care unit compared to normal hearing controls. Between 2004 and 2009, 3366 infants were admitted to the neonatal intensive care unit of Sophia Children's Hospital, of which 3316 were screened ...
Rohlfs Anna-Katharina - - 2010
Previously presented results of the newborn hearing screening in Hamburg and the perspectives are subsequently discussed. Minimum standards referring a participation of 95% of the neonates and a fail rate of less than 4% hearing-impaired children at the primary screening are fulfilled in Hamburg. Systematic screening of newborn hearing by ...
Nock M L - - 2011
Objective:The purpose of this study was to analyze a targeted screening program for glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDdef) and clinical outcomes of G6PD-deficient vs G6PD normal newborns.Study Design:Retrospective chart review for 1578 male newborns was performed. The study group was those screened for G6PDdef. Comparisons between G6PD-deficient and normal infants ...
Walsh W - - 2011
Objective:Pulse oximetry screening of asymptomatic newborns is suggested as a life-saving procedure for the timely detection of critical congenital heart disease (CHD) in asymptomatic newborns. We evaluated this screening and report cases that demonstrate problems with screening in a non-research setting.Study Design:An elective state-directed public health screening program was evaluated ...
Ellsworth Marc A - - 2010
BACKGROUND: Screening for illicit drugs in newborns has privacy, social, and legal risks for families of the infants. Established drug-screening criteria may be applied in a manner that considers nonproven risk factors such as race in addition to evidence-based factors. OBJECTIVE: The goal of this study was to determine if ...
Yang Frank - - 2010
Abstract Objective: To objectively investigate the auditory status of mainland Chinese infants with non-syndromic cleft lip and/or palate (NSCL/P), and to evaluate an auditory assessment protocol for this group. Design: Prospective cohort case review. Patients, Participants: Forty two Chinese infants with NSCL/P, aged from 6 to 24 months. Intervention: The ...
Adachi Nodoka - - 2010
OBJECTIVE: To evaluate the incidence of newborn hearing loss in a Japanese population and to elucidate etiological factors and one-year prognosis. STUDY DESIGN: Screening of newborn hearing. SETTING: Children's tertiary referral center. SUBJECTS AND METHODS: Between 1999 and 2008, 101,912 newborn infants were screened, with 693 infants (0.68%) referred. Etiology ...
Adelola O A - - 2010
Congenital Permanent Childhood Hearing Impairment (PCHI) is known to have a negative effect on language acquisition, cognitive development and social integration. Since 2000 our department has implemented a UNHS program in the West of Ireland. We describe our experience and detail our results to date. All neonates born from October ...
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 ...
Castellani Carlo C Cystic Fibrosis Center, Verona Hospital, Piazzale Stefani 1, 37126 Verona, Italy. - - 2009
A downward trend in cystic fibrosis (CF) birth incidence has been reported in some areas. To evaluate the association between carrier screening and CF birth incidence. In northeastern Italy, CF birth incidence is monitored by means of a long-standing neonatal screening program. In the same area, 2 sections using different ...
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 JM Department of Pediatrics, Medical College of Wisconsin, and Children's Research Institute, Milwaukee, Wisconsin 53226-4874, USA. - - 2009
A newborn blood screening (NBS) test that could identify infants with a profound deficiency of T cells may result in a reduction in mortality. 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 cards can ...
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 PJ Department of Lung, Blood, and Heart, University of Pavia, Pavia, Italy. - - 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 ...
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