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[Neonatal detection of hypothyroidism in the South-Pyrenean region. Results of 14,000 determinations of T4 in blood eluates collected on blotting-paper].

Screening for neonatal hypothyroidism has been undertaken in Southern France by the estimation of T4 in the eluates of blood spots on filter paper. Since March 1976, 14,000 estimations have been made and four cases of hypothyroidism with very low levels of T4 have been detected (less than 38 pg/2 spots). Two cases had high TSH levels (greater than 200 microunits/2 spots). Blood was taken from the hypothyroid babies on the 20th day of life, to check the findings and in all cases the thyroxine was less than 2.8 microgrammes/100 ml and the TSH greater than 40 microunits/ml. T3 was reduced in three cases (less than 75 pg/ml) and normal in one case (150 pg/ml). In all cases no thyroid tissue could be demonstrated with technitium scan. In the first month of life there were practically no symptoms except for mottling of the skin in two cases, a large posterior fontanelle in two cases and in one baby a prolonged neonatal jaundice.

Congenital Hypothyroidism↗
PubMed1977

[Influencing factors of previous testing on blood determination (author's transl)].

The demonstration of individual characteristics, especially those of the blood group types are substantially disturbed through the hydrogenperoxide- and the luminol spray procedure, which when it is previously employed, can cause changes in the blood spot. These changes are expecially by very small blood spots to be expected, but even larger ones under intensive spraying can be effected. Only with great caution are such spray procedures to be used and then only if it is impossible any other way to gather information about the existance of blood spots.

Agglutination Tests↗
PubMed1979

A screening programme for congenital hypothyroidism: preliminary results.

Highly sensitive and precise radioimmunoassays for thyroxine (T4) and thyrotropin (TSH) in dried blood spots on filter paper cards have been developed and are used to screen newborn infants for congenital hypothyroidism. Blood spot TSH levels are measured in samples for which blood spot T4 levels fall in the lower 10 to 15 percent. There was a low recall rate of approximately one infant in every 550 screened. During a 17-month period 5225 infants have been screened for congenital hypothyroidism and two cretins have been detected. Due to very early diagnosis, both infants were commenced on T4 replacement therapy before the age of three weeks.

Congenital Hypothyroidism↗
PubMed1979

The experimental transmission of Parafilaria bovicola to cattle in South Africa using Musca species (subgenus Eumusca) as intermediate hosts.

In controlled experiments in an insect-free stable, cattle became infected with Parafilaria bovicola when Musca lusoria, infected with the larvae of this worm, were allowed to feed on a fresh skin incision, and when infective larvae were placed on fresh skin incisions, injected subcutaneously or into the jugular vein, or instilled into the eyes. The sites of blood spots caused by ovipositing P. bovicola females and the sites of carcass lesions were seldom close to the site of infection, an indication that the worms had migrated. The prepatent period of P. bovicola in 4 cattle which developed blood spots ranged from 242--319 days. Neither of the infected cattle that were kept continuously in a shady stable showed blood spots, but 4 out of 7 infected cattle which spent some time in the sun bled. However, carcass lesions on shaded cattle were similar in appearance to those on cattle kept outdoors. Infective larvae were stimulated to escape from the mouth-parts of infected M. lusoria and Musca xanthomelas s.s. when these were fed citrated ox blood warmed to 38--40 degrees C. No escape took place when the flies were fed warmed saline or warmed 15% sucrose solution.

Animals↗
PubMed1977

The effect of Marek's disease vaccination and day-old debeaking on the performance of growing pullets and laying hens.

In a 2 X 2 completely randomized factorial design, four hundred day-old Single Comb White Leghorn pullets were randomly assigned to four treatment combinations of vaccinated, non-vaccinated, debeaked and non-debeaked groups. Vaccination and debeaking were performed at day-old by administering 2,000 P.F.U. of HVT vaccine/chick and by removing approximately 2/3 of the upper beak, respectively. All the data were analyzed at 5% level of probability. Vaccination reduced feed consumption significantly only during the early growing period of the first 12 weeks, whereas debeaking caused a significant reduction in feed consumption throughout the experimental period of 80 weeks. Mortality during the 20-week growing period was not affected by either vaccination or debeaking. During the laying period (20-80 weeks of age), vaccination reduced the mortality numerically, while debeaking reduced the mortality significantly. Final body weight, hen-day egg production, egg weight, albumen height and egg shell thickness were not influenced by either vaccination, debeaking or a combination of the two. Debeaking had no effect on the incidence of blood-spotting in the eggs. Vaccination, however, significantly reduced percent blood spots in the eggs. Day-old debeaking effectively prevented the occurrence of cannibalism.

Animals↗
PubMed1976

[Radioimmunologic determination of TSH in dried blood stains: a possible screening method for the diagnosis of hypothyroidism in new born infants].

By a modification of the radioimmunoassay of TSH in plasma, a method has been introduced for the measurement of TSH in dried blood spotted on filter paper. On incubation of filter paper discs (6.5 mm diameter, corresponding to approx. 10 mul blood) for 38 hs has the lower limit of detection was 10 muU/ml TSH 68/38. In 100 blood samples, TSH was measured in plasma as well as in dried blood; the results were comparable and showed complete agreement in patients with high TSH concentrations suffering from primary hypothyroidism. In 16 out of 72 newborn children examined during the first 8 hs of life. TSH was slightly elevated. It would appear that our method is sensitive enough for detection of the physiological postnatal rise in TSH. Among 1400 infants in whom Tsh was measured on the 5th or 6th day simultaneously with routine screening for phenylketonuria (PKU), we found 1 case with markedly elevated TSH levels of greater than 100 muU/ml. The child suffered from congenital goiter. The results of our study show that the measurement of TSH in dried blood spots is possible without particular difficulty. Becasue of the simplicity of blood-sampling, the stability of the TSH, the relatively low cost and the low number of false positive results, this method seems to be suitable for screening of new born infants. It could be carried out conveniently in combination with the screening program for metabolic diseases, which covers practically 100% of infants born in Switzerland. Congenital hypothyroidism is a relatively frequent disease (1:3000-1:7000) in which early commencement of treatment is of great importance for mental development. It would therefore be desirable for all infants to be screened during the first days of life for congenital hypothyroidism.

Humans↗
PubMed1979

[Early detection of congenital hypothyroidism by TSH radioimmunoassay using filter paper blood samples (author's transl)].

It has been reported that mental retardation due to congenital hypothyroidism can be prevented by early detection and early adequate replacement therapy. We have developed a radioimmunoassay for TSH using the dried blood spot and have started screening for newborn congenital hypothyroidism using a part of sample of the inborn metabolic error screening. (1) The dried blood spot TSH of 61,000 newborn infants was assayed in the first half of our screening and that of 74,505 newborn infants was assayed in the latter half of our screening. As a result, although we were not able to detect any cases in the first screening, we were able to detect 9 cases of congenital hypothyroidism in the latter screening. From the results obtained through our investigation of the thyroid function of these 9 infants, we confirmed that mild hypothyroidism can be better detected by the screening of TSH. (2) As to the program of the screening, we chose from the latter half of our screening all the samples in which TSH concentrations contained above 3 percent of each assay and were remeasured on the next assay. (3) As we confirmed that the sensitivity of measurement was increased at very low concentrations, when the volume of antibodies, radioisotopes and eluates used for each assay were decreased, we measured TSH successfully using two 3 mm discs. (4) As we can perform very simple screening by the 3 mm disc method, we are changing the screening method from that with 10 mm disc to one with two 3 mm discs. We intend to extend our screening, and will make every effort to prevent mental retardation due to congenital hypothyroidism.

Blood Preservation↗
PubMed2026

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

INTRODUCTION: Next-generation sequencing (NGS) is gaining attention in newborn screening (NBS) for its ability to detect treatable genetic disorders, especially those without a biochemical footprint. However, NGS-NBS requires interpreting variants without phenotype information or family trio analysis. Biochemical tests, preferably in dried blood spots (DBS), are therefore useful to confirm the pathogenicity of variants identified by NGS-NBS and increase its specificity and sensitivity. OBJECTIVES: We aimed to explore the potential of combined genetic-biochemical testing for 95 treatable Inherited Metabolic Disorders (IMD) considered eligible for NGS-NBS (100 genes) previously identified by our research group. METHODS: We reviewed the Collaborative Laboratory Integrated Reports (CLIR) and carried out systematic literature reviews in PubMed and Embase to identify biochemical tests for 95 IMD. Biochemical tests conducted on DBS were differentiated from tests that require referral. RESULTS: We identified DBS-biochemical tests for 72 of the 95 IMD (77/100 genes). DBS-based biochemical tests for 55 IMD (60 genes) are already implemented in NBS. For the other 23 IMD, biochemical tests in non-DBS specimens are reported, although some are less sensitive when measured at neonatal age in presymptomatic infants. CONCLUSION: We present a comprehensive overview of current biochemical tests for 95 IMD. These tests can be used to confirm inconclusive NGS-NBS results, and combined genetic-biochemical testing is expected to improve both the negative and positive predictive values of NBS programs.

Humans↗
PubMed1977

A simple fluorometric assay of protoporphyrin in erythrocytes (EPP) as a screening test for lead poisoning.

A simple microfluorometric procedure for the measurement of protoporphyrin in erythrocytes (EPP) is described. The technique, which can be performed in less than 4 minutes with portable equipment, utilizes 40 mul of capillary blood and only one reagent (94 percent acidified ethanol) for the extraction. The results obtained by this micromethod are in close agreement with those of the ethyl acetate/hydrochloric acid double-extraction methods. The EPP concentration increases markedly when the blood lead level is increased, and the test can be used to screen children for lead poisoning. This new micromethod also gives reproducible results when dried blood spots on filter paper are used instead of liquid blood.

Erythrocytes↗
PubMed1977

Recommendations for screening programs for congenital hypothyroidism: Newborn Committee of the American Thyroid Association.

The newborn committee of the American Thyroid Association recommends establishment and expansion of screening programs for congenital hypothyroidism because of the high frequency of the disease (1/5000 to 1/6000 births), the difficulty in making a clinical diagnosis and the fact that the disease is easily curable. The regional approach for such a program is recommended, and the Quebec experience with measurement of thyronine and thyrotropin concentrations by means of filter-paper blood spots can serve as a model.

Congenital Hypothyroidism↗
PubMed1979

Sensitive trypsin assay for dried-blood specimens as a screening procedure for early detection of cystic fibrosis.

An immunoreactive-trypsin assay uses small dried-blood spots (diameter 1.25 mm) and is therefore suitable for incorporation in established neonatal screening schemes. Blood specimens from neonates with cystic fibrosis had trypsin levels greater than those in control subjects, thus confirming earlier findings. Trypsin levels were below normal in several older patients with cystic fibrosis.

Adolescent↗
PubMed1978

Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

An infant, suspected of having galactosemia following a positive screening test on dried blood spots, was shown to be a Duarte-transferase deficiency compound heterozygote through studies of electrophoretic mobility of the transferase enzyme in blood from the patient and family members. No rise in blood glucose was seen following oral ingestion of galactose. At the same time, galactose rose in plasma and was excreted in the urine; galactose-1-phosphate accumulated in erythrocytes. A galactose-free diet was considered the prudent course in the presence of the patient's inability to metabolize galactose completely.

Blood Glucose↗
PubMed1977

Rapid and quantitative blood amino acid analysis by chemical ionization mass spectrometry.

A quantitative analysis of amino acids in microsamples of dried blood spots by chemical ionization mass spectrometry has been developed. Isotope ratio determination was used as the quantitating technique via multiple labelled internal standards. This procedure yields excellent precision and accuracy as demonstrated by the analysis of known amino acid mixtures and of phenylalanine in the blood from newborns.

Amino Acids↗
PubMed1978

Polystyrene tube immunoradiometric assay for human alpha1-fetoprotein, and its use for mass screening.

We describe a two-site immunoradiometric assay for human alpha1-fetoprotein, with use of antibody-coated polystyrene tubes as solid phase. The sensitivity, precision, and simplicity of this system make it eminently suitable for mass-screening purposes. We currently use it for neonatal detection of hereditary tyrosinemia in the Province of Quebec; measurements are made on blood spotted and dried on paper. This system could be well suited for other mass surveys, such as prenatal screenings for fetal abnormalities.

Amino Acid Metabolism, Inborn Errors↗