Search Results
Results 351 - 400 of 1397
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Attias J - - 2007
This study describes 5 infants who were diagnosed with auditory neuropathy (AN) associated with severe to profound neural hearing loss shortly after birth. However, on repetition of the tests 7-12 months later, all infants showed full or partial recovery. The follow-up electrophysiological patterns were characterized by the appearance of wave ...
Karimi Mehran - - 2007
BACKGROUND: beta-thalassaemia is a preventable disease. Iran has about 20,000 homozygote beta-thalassaemia patients and 3,750,000 carriers. OBJECTIVE: To assess the 10-year results of the screening programme, which has been operating in Southern Iran since 1995. METHODS: All couples wanting to marry were required to be checked for beta-thalassaemia by their ...
Griebsch Ingolf - - 2007
OBJECTIVES: Congenital heart defects (CHD) are an important cause of death and morbidity in early childhood, but the effectiveness of alternative newborn screening strategies in preventing the collapse or death--before diagnosis--of infants with treatable but life-threatening defects is uncertain. We assessed their effectiveness and efficiency to inform policy and research ...
Chen Yingyao - - 2007
OBJECTIVES: The cost-effectiveness of prenatal diagnosis intervention for Down's syndrome (DS) in China was assessed and evidence-based information for policy makers and providers is presented. METHODS: Based on field surveys in four selected cities in China and a literature review, the economic evaluation of prenatal diagnosis for DS from a ...
Wilson Callum - - 2007
AIMS: Expanded newborn screening uses a new technology, tandem mass spectrometry, to diagnose an additional 20 plus rare treatable inborn errors of metabolism based on the further analysis of the current newborn Guthrie card blood sample. The purpose of this study was to investigate the incidence of these disorders in ...
Desprechins B - - 2007
The reported prevalence of established dislocation the hip in an unscreened population varies from 0.7 to 1.6 / 1000 children in European and American white populations. In clinically screened populations neonatal hip instability is reported to occur in 3 to 30 / 1000 newborns while established congenital dislocation has a ...
Sadri Maziar M MRC Institute of Hearing Research, Southampton University Hospitals Trust, Southampton, UK. - - 2007
We aimed to investigate the incidence of false alarms that occurred with the pass/fail criteria used in a published series of neonatal hearing screening programmes, as a function of age. We analysed the database of 19137 normally hearing babies (38274 ears) tested in the Wessex Universal Neonatal Hearing Screening Project. ...
Doornebal N - - 2007
BACKGROUND: Presently there is no consensus regarding the extent of workup required in newborns who present with an isolated single umbilical artery (SUA). Because of the association with silent renal anomalies, some studies advise to perform renal ultrasonography in infants born with an isolated SUA. AIMS: To decide whether screening ...
Abdala Carolina - - 2006
Distortion product otoacoustic emission (DPOAE) measures of cochlear function, including DPOAE suppression tuning curves and input/output (I/O) functions, are not adultlike in human infants. These findings suggest the cochlear amplifier might be functionally immature in newborns. However, many noncochlear factors influence DPOAEs and must be considered. This study examines whether ...
Schimmenti Lisa A - - 2007
Primary carnitine deficiency impairs fatty acid oxidation and can result in hypoglycemia, hepatic encephalopathy, cardiomyopathy and sudden death. We diagnosed primary carnitine deficiency in six unrelated women whose unaffected infants were identified with low free carnitine levels (C0) by newborn screening using tandem mass spectrometry. Given the lifetime risk of ...
Mathur N N - - 2007
OBJECTIVE: To formulate an alternative strategy for universal infants hearing screening in an Indian tertiary referral hospital with a high delivery rate, which could be extended to similar situations in other developing countries. The system should be able to diagnose, in a timely fashion, all infants with severe and profound ...
Martines F - - 2007
OBJECTIVE: To study the incidence of congenital sensorineural hearing loss in all newborns introducing a screen test with a protocol no expensive, with a good "screen sensitivity" that could let an earlier identification of hearing impairment beginning early intervention by 2 months of age and increasing the probability of having ...
Wilkinson Andrew R - - 2006
Over the last three decades, the brainstem auditory evoked response (BAER) has been used to assess functional integrity and development of the auditory system and the brain in conditions that affect the brainstem auditory pathway. As a non-invasive objective test, BAER is particularly suitable in very young or sick infants. ...
Liske Michael R - - 2006
A member of the Tennessee state legislature recently proposed a bill that would mandate all newborn infants to undergo pulse oximetry screening for the purpose of identifying those with critical structural heart disease before discharge home. The Tennessee Task Force on Screening Newborn Infants for Critical Congenital Heart Defects was ...
Strnadová Kristina A - - 2007
This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants who ...
Psarommatis Ioannis - - 2006
OBJECTIVE: Auditory neuropathy (AN) has been a well-accepted clinical entity during the last years. Though we are able to diagnose AN reliably, little is known concerning its epidemiology, etiology and prognosis. This study is aimed at presenting a particular characteristic of the disease, namely its potential transient behaviour, observed in ...
Ammenti Anita - - 2006
In children older than 2 years, hypercalciuria is the most common metabolic cause of renal stones. In infants, its prevalence is not well established. Since 1990, we observed five infants in whom renal stones or microcalculi were diagnosed between the age of 5 and 19 months. One of them was ...
Attias J - - 2006
The objective of the study was to investigate the prevalence of congenital and early-onset hearing loss, and the influence of the known risk factors for hearing loss on infants in Jordan and Israel. Subjects were a total of nearly 17,000 infants from both countries, including infants with and without risk ...
Arumilli B R B - - 2006
The practice of regular radiological follow-up of infants with a positive family history of developmental dysplasia of the hip is based on the widespread belief that primary acetabular dysplasia is a genetic disorder which can occur in the absence of frank subluxation or dislocation. We reviewed all infants who were ...
Deverill Mark - - 2006
OBJECTIVES: In this article, we seek to establish women's preferences (expressed as utility values) for a number of scenarios relating to the process and associated outcomes of first- and second-trimester screening for Down syndrome. METHODS: We used the standard gamble (SG) approach with a sample of 100 pregnant women. Standard ...
Bagatto Marlene P - - 2006
A common strategy for measuring the real-ear response of the real-ear-to-coupler difference (RECD) in the pediatric population is to insert a probe-tube separately from the eartip. This strategy is at times difficult to implement while attempting to obtain the measurement from a young infant. An RECD probe-tube insertion technique that ...
Iyer RN
This report describes cyclosporiasis in a seven month old infant who presented with incessant crying and refusal of feeds. The routine modified ZN stained smears showed the oocysts of Cyclospora when all other tests failed to reveal enteric pathogens. The need for the clinical laboratory to screen faeces samples for ...
Parsons Evelyn P - - 2007
OBJECTIVE: To explore mothers' accounts of screening newborn babies to increase our understanding of how they define screening and talk about the process of consent. DESIGN: A purposive sample of mothers, whose newborn babies had recently been screened, were invited to take part in a semi-structured interview. SETTING: Primary and ...
Hewlett J - - 2006
As more states adopt expanded newborn screening for metabolic disorders, the overall number of false positives increases. False-positive screening results have been associated with increased anxiety and stress in parents of infants who require follow-up testing, even after the infant's good health is confirmed. This article reviews the literature on ...
de Boer Jessica - - 2006
When normally hearing ears are stimulated with maximum length sequences (MLS) of clicks, a family of non-linear temporal interaction components of otoacoustic emissions (OAEs) can be derived, which have been named Volterra Slice OAEs (VS OAEs). This study investigates the sensitivity of VS OAEs to sensorineural hearing impairment in adults, ...
Roposch Andreas - - 2006
Timing the reduction of a delayed presenting dislocated hip is controversial if the ossific nucleus of the proximal femoral epiphysis is absent. We formulated a decision model for management of 6- to 13-month-old infants based on two strategies: waiting for the ossific nucleus to appear before reducing the hip or ...
von Hapsburg Deborah - - 2006
PURPOSE: Vocalization development has not been studied thoroughly in infants with early-identified hearing loss who receive hearing aids in the 1st year of life. This study sought to evaluate the relationship between auditory sensitivity and prelinguistic vocalization patterns in infants during the babbling stage. METHOD: Spontaneous vocalizations of 15 early-identified ...
Tektonidou Maria G - - 2006
In conclusion, arthralgias represent a rather common osteoarticular manifestation of primary and secondary APS, while arthritis is mainly described in SLE-related APS. Osteonecrosis is frequently described in association with aPL in patients with and without autoimmune disorders. The presence of osteonecrosis in primary APS patients in the absence of corticosteroid ...
Persson Bengt - - 2006
The purpose of this study was to develop an instrument (SEEK) for the early detection of developmental deficits and/or autistic spectrum disorders among children by the age of 8 months at eight child health care centers in southern Sweden. Health visitors, trained by the research team, screened 312 infants. SEEK ...
Kumar Praveen - - 2006
Charts of newborn infants were reviewed for documentation of maternal risk factors and prenatal screening test results. Physician documentation was incomplete in most infants. Nearly half of all infants were discharged without documentation regarding maternal status of hepatitis B, syphilis, and group B streptococcus. These lapses in newborn assessment have ...
Nicolau Yamileth - - 2006
HYPOTHESIS: The study of infant temporal bones with tuberculosis (TB) of the middle ear and mastoid could provide information to assist with clinical diagnosis in this population. BACKGROUND: The TB pandemic has become a critical global public health problem. With the rising incidence of the disease, otolaryngologists might encounter an ...
Southern Kevin W - - 2007
BACKGROUND: Cystic fibrosis (CF) is a recessively inherited condition caused by mutation of the CFTR gene. Newborn infants with CF have raised levels of immuno-reactive trypsinogen (IRT) in their serum. Measurement of IRT in the first week of life has enabled CF to be incorporated into existing newborn screening (NBS) ...
Quaglini Silvana - - 2006
AIMS: A significant number of preventable cardiac deaths in infancy and childhood are due to long QT syndrome (LQTS) and to unrecognized neonatal congenital heart diseases (CHDs). Both carry a serious risk for avoidable mortality and morbidity but effective treatments exist to prevent lethal arrhythmias or to allow early surgical ...
Bhattacharya K - - 2006
The New South Wales state-wide newborn screening programme has offered comprehensive screening for inborn errors of metabolism, including MSUD, using electrospray tandem mass spectrometry since 1998. Over this period, a number of patients with classic MSUD have been identified with subsequent good neurological outcome. We describe two patients with an ...
Huber Lars - - 2006
In the year 2000, resting spores of a previously undescribed plasmodiophorid were found in roots of Vitis spp. This plasmodiophorid was identified as a member of the genus Sorosphaera Schroeter and described as Sorosphaera viticola Kirchmair, Neuhauser, Huber. To attain information on the field distribution of Sorosphaera viticola, a selective ...
Antonelli Patrick J - - 2006
OBJECTIVES: Proteases have been shown to play a role in the pathogenesis of otitis media. Inhibition of these proteases can improve treatment outcomes in certain conditions. The goal of this study was to determine if intratympanic administration of a single dose of the protease inhibitor, recombinant alpha 1-antitrypsin (rAAT), can ...
Mutton Patricia E - - 2006
Electrophysiological screening of the hearing of newborn infants has demonstrated that hearing impaired infants can be successfully detected soon after birth.(1) There is much evidence to support the belief that the early fitting of hearing aids when needed (at less than 6 months of age) and guided early language stimulation ...
Small Susan A - - 2006
OBJECTIVE: Multiple auditory steady-state responses (ASSRs) probably will be incorporated into the diagnostic test battery for estimating hearing thresholds in young infants in the near future. Limiting this, however, is the fact that there are no published bone-conduction ASSR threshold data for infants with normal or impaired hearing. The objective ...
Danhauer Jeffrey L - - 2006
PURPOSE: This is the first of a 2-part series of articles that describe and assess an emerging community-based early hearing detection and intervention program. This study investigated parents' compliance for accessing services for their infants at 5 levels in the process from referrals through subsequent follow-up during a 3-year period. ...
Lieu Judith E C - - 2006
PURPOSE: The goal of this study was to examine the rate of diagnostic testing after newborn hearing screening (NHS) referral, evaluate timeliness of follow-up, and evaluate the use of multilevel auditory brainstem response (ABR) in screening of high-risk infants. METHOD: Telephone interviews were conducted with parents of infants who had ...
Leahy T R - - 2006
Recent changes in population movement mean that an increasing number of mothers who deliver in Ireland and their infants are at risk of haemoglobinopathies, in particular sickle cell anaemia. Early detection of sickle cell anaemia improves outcome. For this reason, many hospitals have established antenatal and neonatal screening programmes targeting ...
Karzon Roanne K - - 2006
PURPOSE: The purpose of the study was to evaluate the effectiveness of a 2-hr initial audiologic assessment appointment for infants referred from area universal newborn hearing screening (UNHS) programs to a clinical audiology department in an urban hospital. METHOD: A prospective auditory brainstem response (ABR)-based protocol, including clicks, frequency-specific tone ...
Zagólski Olaf - - 2006
BACKGROUND: Asphyxia at birth, low birth weight and low birth age constitute risk factors for inner ear damage in the perinatal period. Caloric stimulation is one of the most reliable diagnostic tools for vestibular testing in infants. Recording of vestibular-evoked myogenic potentials (VEMPs) evaluates the otolith organ and its pathways. ...
Amodio John - - 2006
BACKGROUND: The arterial vascularity of the hip has been investigated in normal infants using duplex Doppler sonography. This study addressed the differences in hip vascularity in infants with respect to gender and acetabular morphology. OBJECTIVE: To determine whether there is a relationship between the resistive index of the vessels of ...
Uus Kai - - 2006
OBJECTIVE: The objective of this study was to determine the effectiveness in routine practice of the first phase of a national population-based newborn hearing screening and follow-up program that seeks to identify infants with bilateral permanent hearing loss of > or =40-dB hearing loss. METHODS: The study was a part ...
Spahis Joanna K - - 2006
Newborn screening tests are obtained for all live births in the United States in an effort to identify newborns affected with, or at risk for, various genetic and metabolic diseases. This screening began in the early 1960s with an inexpensive screening test for phenylketonuria (PKU), but the introduction of new ...
Koehne Petra S - - 2006
OBJECTIVE: We present a case of deafness in a preterm infant with several predisposing factors of an acquired hearing impairment that, however, turned out to have a genetic cause. We describe the severe postnatal course and review the relevant literature. DESIGN: Case report. SETTING: University-based tertiary neonatal intensive care unit. ...
Windmill Sue - - 2006
The Joint Committee on Infant Hearing 2000 position statement includes guidelines for the development of Early Hearing Detection and Intervention programs. These guidelines provide specific recommendations for the audiologic test battery for infants who fail a newborn infant hearing screening. The recommended test battery includes electrophysiologic measures such as the ...
Feuchtbaum Lisa - - 2006
OBJECTIVE: In response to a California legislative mandate, a pilot tandem mass spectrometry (MS/MS) screening program was undertaken by the Genetic Disease Branch of the California Department of Health Services between January 2002 and June 2003. This article outlines the Genetic Disease Branch approach to implementing the MS/MS pilot program ...
Ghekiere A - - 2007
Embryonic development is a crucial time window within an organism's life history. Relatively few studies have focused on understanding the potential effects of endocrine disruptors on embryogenesis in invertebrates. Mysids (Crustacea: Mysidacea) have been used extensively in regulatory toxicity testing and they are the only invertebrate model currently included in ...
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