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PubMed1999

Technical aspects of neonatal screening using tandem mass spectrometry. Report from the 4th meeting of the International Society for Neonatal Screening.

Quantitative analysis of amino acids (AA) and acylcarnitines using tandem mass spectrometry is an emerging technology used to screen neonatal dried blood spot samples for disorders in the metabolism of AA, organic acids and fatty acids. This paper provides a brief review of some of the technically oriented issues which emerged at the 4th meeting of the International Society for Neonatal Screening in Stockholm, 1999. The information covers sample preparation, instrumentation, data acquistion modes, internal standards, interpretation, confounding factors and practical screening experience.

Amino Acid Metabolism, Inborn Errors↗
PubMed1993

[Objective prevention of ictus. Data informatics from a mass screening program].

The main technical and functional abilities of the computer supply to the epidemiologic program Obiettivo Prevenzione Ictus are described. The aim of the program is to investigate the epidemiology of carotid occlusive disease in subjects aged 45 to 75 by following a diagnostic and therapeutic protocol, designed to discover and treat internal carotid artery stenosis. The magnitude of the population involved is 23,140 subjects. The data from the population are collected in a three level archive whose configuration makes it possible to obtain information either from within each level and from all of them. Thus, the software adopted provides specific tools for elaboration of epidemiologic data as well as for clinical management of carriers of carotid lesion and for follow-up of treated patients.

Aged↗
PubMed1994

HIV mass screening of infants and mothers: historical, technical, and practical issues.

Screening groups of anonymous infants for HIV antibody, as an index of maternal infection rates, has been a widely used seroepidemiological method since being introduced in 1986 in Massachusetts (USA). One shortcoming has been the applicability only to parturient women, thus necessitating corrections for fertility rates in extrapolation to all women. A second disadvantage has been controversy and confusion about the distinction between anonymous seroprevalence studies and linked testing. However, there have been major advantages such as the "leading indicator" nature of the data obtained. Experience with screening nearly a half million Massachusetts newborns through December 1992 has shown seroprevalence rates stabilizing at 2.4 per 1000, and with consistent 10-fold differences between groups of birth hospitals serving different socio-economically defined populations. In addition to predicting the future of the AIDS epidemic in children, the information provides a reference point for comparing the completeness of targeted identifications of HIV infection in mothers and infants.

Female↗
PubMed1988

[Screening for hereditary diseases. What other screening?].

Faced to the success of the neonatal screening for phenylketonuria and congenital hypothyroidism, it was tempting to introduce screening of other metabolic diseases. "Ideal" diseases to be screened are treatable, are not easily recognized by clinical means during the neonatal period, need immediate therapy to prevent irreversible disabilities, have a reasonable frequency and can be detected by and easy test. There is some controversy concerning the list of diseases recommended for mass screening, among them four can be discussed: congenital adrenal hyperplasia, due to 21-hydroxylase deficiency, fulfils most of the criteria, but some changes in the general screening strategy should be made to provide a result as soon as possible, and at least before the 10th day of life; cystic fibrosis, immunoreactive trypsin is a good marker of the disease but its assay needs technical adaptation for mass screening; more information are also required about the efficacy of an early management of the disease; Duchenne muscular dystrophy has a good marker for neonatal screening (creatine kinase), but no treatment exists and the possibility of genetic counselling can only be provided; hypercholesterolaemia is a frequent disease; however, the good marker and the adequate treatment remain to be defined. Pilot programmes, on the behalf of the French Association for Neonatal Screening, are evaluation these problems. However, at the present time, a consensus has been reached that only phenylketonuria and hypothyroidism fulfils criteria for an efficient mass screening programme.

Adrenal Hyperplasia, Congenital↗
PubMed1965

A COMPARATIVE STUDY OF THE TRIPHENYLTETRAZOLIUM CHLORIDE (UROSCREEN) TEST AND CONVENTIONAL METHODS FOR THE DETECTION OF BACTERIURIA.

Acute urinary tract infection may be preceded by and active pyelonephritis may be associated with asymptomatic bacteriuria. Treatment of asymptomatic bacteriuria may prevent or arrest active, chronic pyelonephritis and its sequelae. Consequently, there is a need for a reliable and simple screening procedure to detect asymptomatic bacteriuria in large segments of the population.The reliability and practicability of tests advocated for the detection of bacteriuria, including the new chemical triphenyltetrazolium chloride (T.T.C.) (Uroscreen) test, were evaluated. Reliability was assessed by correlating results of these tests with bacterial counts of tested urines. Significant bacteriuria is defined as the presence of 100,000 or more organisms per ml. of urine.The T.T.C. (Uroscreen) test was positive in 92.5% of cases of bacteriuria; there were 7.5% false-negative and 2.8% false-positive results. Bacteria on Gram-stained smear were found in 95.5% of the cases of bacteriuria and in 14.6% of those with non-infected urine; pyuria (more than three leukocytes per high-power field), in 60% of those with bacteriuria and in 15.9% of those with presumably non-infected urine. Bacteria were conspicuous in the urinary sediment in 91.1% of cases of bacteriuria and in 3.7% of presumably non-infected urines.The T.T.C. (Uroscreen) test fulfilled the criteria for a reliable and simple screening procedure. It should be used concomitantly with other screening tests when the urine is examined routinely.

Bacteria↗