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At least 19 recordsLinked to original sources
PubMed1975

Measurement of thyroid-stimulating hormone in dried blood spot.

Blood T.S.H. (thyroid-stimulating hormone) was measured by radioimmunoassay in dried blood spotted onto filter-paper and obtained during screening of the newborn for metabolic disorders. By this method, the detection limit for blood T.S.H. was 5--10 muU/ml, which is the approximate upper limit of normal for blood T.S.H. T.S.H. values obtained on dried blood correlated well with those obtained on serum from the same subjects. Duplication of the assay in a single sample is not necessary. This method picked up a case of primary hypothyroidism in a four-year-old girl with symptoms. Since the technique is simple and sensitive enough for the detection of hypothyroidism, it could be valuable in mass-screening for congenital hypothyroidism.

Adult↗
PubMed2026

Evaluation of dried blood spots relative to peripheral blood mononuclear cells for intracellular tenofovir-diphosphate and emtricitabine-triphosphate assessment using liquid chromatography-tandem mass spectrometry.

Tenofovir alafenamide/emtricitabine (TAF/FTC) is widely used for HIV treatment and prevention. Their intracellular metabolites, tenofovir-diphosphate (TFV-DP) and emtricitabine-triphosphate (FTC-TP), provide informative measures of drug exposure. Peripheral blood mononuclear cells (PBMCs) are the primary matrix for these measurements; however, their isolation is labor-intensive, limiting clinical applicability. This study evaluated dried blood spots (DBS) for assessing intracellular TFV-DP and FTC-TP exposure relative to PBMCs. Paired PBMC and DBS samples (n&#x202f;=&#x202f;124) were analyzed using a validated LC-MS/MS method. Moderate correlations were observed between DBS and PBMC concentrations for TFV-DP (r&#x202f;=&#x202f;0.44, p&#x202f;<&#x202f;0.0001) and FTC-TP (r&#x202f;=&#x202f;0.27, p&#x202f;=&#x202f;0.0025), with stronger correlations in the central 80% of participants based on the DBS-to-PBMC concentration ratios (r&#x202f;=&#x202f;0.61 and 0.44, respectively). Log-transformed Bland-Altman analysis, with more than 90% of samples falling within the 95% limits of agreement. Additionally, concentration distributions across different virological statuses were similar between DBS and PBMC. DBS samples (n&#x202f;=&#x202f;44) were also collected at baseline and on day 29 from people with HIV receiving TAF/FTC in combination with isoniazid plus rifapentine (1HP) to demonstrate the applicability of DBS for investigating potential drug-drug interactions (DDIs). In conclusion, the observed moderate correlations between DBS and PBMC concentrations of TFV-DP and FTC-TP suggest that DBS may serve as a feasible sampling approach for population-level assessment of intracellular TFV-DP and FTC-TP exposure. The simplicity of DBS sample collection and handling may facilitate large-scale clinical studies and highlights its potential utility in future clinical research.

Dried blood spots↗
PubMed2025

The acceptability of blood spot screening and genome sequencing in newborn screening: a systematic review examining evidence and frameworks.

BACKGROUND: Population-wide newborn blood spot screening programmes are a successful public health intervention used to detect whether the baby is at risk of certain rare conditions, with the aim of earlier diagnosis and provision of optimal care and treatment. Evaluating candidate conditions to include in newborn blood spot and genetic sequencing raises questions regarding acceptability to parents/carers. METHODS: In the context of the possible expansion of the newborn blood spot screening programme in the United Kingdom, this review aimed to systematically review research on the acceptability to parents of newborn blood spot screening and genetic sequencing. A protocol was developed prior to commencing the review and was registered on the PROSPERO database. A team of researchers carried out the review, with checking at all stages carried out by at least two individuals. We included research published after 2013 with participants who were pregnant or a recent parent of a newborn and were resident in a high-income country. We included quantitative and qualitative studies that investigated the acceptability to parents/carers of newborn blood spot screening or genetic sequencing. Quantitative studies were narratively synthesised, and theories/frameworks identified and evaluated. Qualitative studies were analysed for recurring themes, and a meta-synthesis was carried out to compare and contrast these two types of data. We quality appraised included articles using tools appropriate for their study design. RESULTS: Searches were carried out in September to November 2023 and screening identified 25 relevant research articles. Just over half were from North America, with four existing reviews and nine qualitative studies. Domains of acceptability described in the literature were: support for screening; level of anxiety, information and knowledge; consent; views of the procedure; and support after screening. The research indicated consensus support for blood spot screening, and for expanding to some other conditions, although some parental anxiety was reported. Parents/carers mostly perceived that they had received sufficient information, but the timing of this could be improved. While parents indicated interest in genomic screening, studies highlighted the need for clearer consent procedures and greater support for parents following genomic screening than for blood spot screening. Only three included studies reported using any kind of theoretical framework. DISCUSSION: Most parents/carers found newborn blood spot screening programmes to be acceptable and favoured their large-scale implementation. A minority of parents/carers expressed concerns regarding the acceptability of processes underpinning newborn blood spot screening, such as consent, the timing of receiving information and support available after testing. More research is needed regarding the acceptability of newborn genomic sequencing screening programmes, which are less established compared with newborn blood spot screening programmes. LIMITATIONS: The over-representation of studies conducted in the United States has implications for the applicability of findings to other countries where testing is not typically mandatory and health systems differ considerably. Most studies were of cross-sectional design and there was limited representation of people from lower incomes and non-white ethnicity. While the inclusion of studies only in populations of future or very recent parents provided coherence to the findings, unclear reporting of participants may have resulted in under- or overinclusion of some studies. FUNDING: This article presents independent research funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme as award number NIHR159927.

ACCEPTABILITY↗
PubMed1979

Blood-spot thyrotropin radioimmunoassay in a screening program for congenital hypothyroidism.

We describe a highly sensitive and precise radioimmunoassay for thyrotropin in dried blood spots on filter paper cards. In a screening program for congenital hypothyroidism, blood-spot thyrotropin concentrations are measured in infants whose blood-spot thyroxine concentrations are in the lower 10%, and this strategy has reduced the recall rate from 1.7% (thyroxine assay alone) to 0.17%. Thyrotropin assay samples consist of discs 4.5-mm in diameter, containing about 6 microL of blood, punched from blood spots. By appropriate attention to assay conditions, a mean least-detectable thyrotropin concentration equivalent to 2.5 milliunits/L plasma has been achieved. Concomitant measurement of thyrotropin by plasma and blood-spot assays in 91 subjects yielded a Spearman rank correlation coefficient of 0.9732. An analysis of variance of the distribution volume of thyrotropin in blood spots and a covariance analysis of factors affecting blood-spot thyroxine results are presented.

Birth Weight↗
PubMed1978

Glutathione peroxidase in dried blood spots.

A new procedure utilizing dried blood spots was developed for detecting glutathione peroxidase deficiency. Samples from a known patient with a partial defect and from rats with an induced deficiency were distinguished from respective control groups by their longer defluorescence endpoints. Samples from 100 patients with anemia and 2 phenyl-ketonuric infants on low-protein diets contained glutathione peroxidase activity similar to that in 82 controls, when screened for the enzyme defect by the new procedure.

Adult↗
PubMed1978

Micromethod for estimating adenosine deaminase activity in dried blood spots on filter paper.

We describe a fluorometric micromethod for measuring adenosine deaminase activity in dried blood spots on filter paper. Earlier methods require venipuncture and preparation of washed erythrocytes; in the present method, whole capillary blood, spotted on filter paper and mailed (dried) to a central laboratory, is used. The stability of the enzyme in dried blood on filter paper was assessed. The results were compared with those of a spectrophotometric method. The presence of serum appears not to affect the estimation of the activity and the method may be useful in early detection of severe combined immunodeficiency disease and hereditary hemolytic anemia.

Adenosine Deaminase↗
PubMed2024

Exploring the potential of genetic analysis in historical blood spots for patients with iodine-deficient goiter and thyroid carcinomas in Switzerland and Germany (1929-1989).

Iodine deficiency-induced goiter continues to be a global public health concern, with varying manifestations based on geography, patient's age, and sex. To gain insights into clinical occurrences, a retrospective study analyzed medical records from patients with iodine deficiency-induced goiter or thyroid cancer who underwent surgery at the Community Hospital in Riehen, Switzerland, between 1929 and 1989. Despite today's adequate iodine supplementation, a significant risk for iodine-independent goiter remains in Switzerland, suggesting that genetic factors, among others, might be involved. Thus, a pilot study exploring the feasibility of genetic analysis of blood spots from these medical records was conducted to investigate and enhance the understanding of goiter development, potentially identify genetic variations, and explore the influence of dietary habits and other environmental stimuli on the disease.Blood prints from goiter patients' enlarged organs were collected per decade from medical records. These prints had been made by pressing, drawing, or tracing (i.e., pressed and drawn) the removed organs onto paper sheets. DNA analysis revealed that its yields varied more between the prints than between years. A considerable proportion of the samples exhibited substantial DNA degradation unrelated to sample collection time and DNA mixtures of different contributors. Thus, each goiter imprint must be individually evaluated and cannot be used to predict the success rate of genetic analysis in general. Collecting a large sample or the entire blood ablation for genetic analysis is recommended to mitigate potential insufficient DNA quantities. Researchers should also consider degradation and external biological compounds' impact on the genetic analysis of interest, with the dominant contributor anticipated to originate from the patient's blood.

Humans↗
PubMed1976

alpha1-Fetoprotein measurement in blood spotted on paper: discriminating test for hereditary tyrosinemia in neonatal mass screening.

We describe an electroimmunodiffusion technique for measuring alpha1-fetoprotein in blood spotted on chromatography paper. The system is being used as a complementary test in a neonatal mass-screening program for detection of inborn metabolic diseases in the Province of Quebec. In a series of 102 cases of neonatal hypertyrosinemia, the test has proven to be highly discriminative for hereditary tyrosinemia. It has permitted early detection of eight cases of this disease, including two that would have been missed by the previously used screening procedure, tyrosine measurement only. The test not only virtually eliminates the risk of misdiagnosis or missed diagnosis, but also permits earlier diagnosis of hereditary tyrosinemia and considerably reduces the follow-up work required for newborns with transitory tyrosinemia. The AFP test is simple, fast, practical, and inexpensive. Combined with tyrosine determination, it constitutes an optimal device for mass screening of hereditary tyrosinemia.

Amino Acid Metabolism, Inborn Errors↗
PubMed1979

Dried-blood spot screening for cystic fibrosis in the newborn.

Serum-immunoreactive-trypsin (I.R.T.) was measured in children with cystic fibrosis (C.F.) and a variety of controls. In the first few months of life all C.F. children had a raised serum-I.R.T. A dried blood-spot assay for I.R.T. was established and has potential as a screening test for C.F. in the newborn.

Antigens↗
PubMed1979

Measurement of anti-thyroid antibodies in dried blood spots.

The method for determination of anti-thyroid antibodies in extracts of dried whole blood on filter paper was described. Antibodies in dried blood were stable at room temperature for at least 1 month and were extracted well by overnight elution. This simple method requires only a minimal 30 microliter of venous blood and would enable large-scale screening for autoimmune thyroid diseases.

Autoantibodies↗
PubMedDate not supplied

[Neonatal screening of congenital hypothyroidism with TSH measurement in dried blood spots on filter paper. A two years experience (author's transl)].

Systematic screening for congenital hypothyroidism was started in Lyon in september 1976. This screening was coupled with PKU, using the same dried blood samples on filter paper obtained on the 5th day of life. TSH levels were determined by radioimmunoassay adapted for dried blood samples (Kit Abbott). In 24 months, 56 176 samples were analyzed. The critical level calling for control was successively raised from from 20 to 30, now 40 microUI/ml of serum. A high level of TSH was found in 307 children (0,55%). Pathological deliveries were found in most of these infants (neonatal injury, cesarean, section forceps or ocytocic perfusion, neonatal icterus) and a second or a third measurement showed normal TSH level. Congenital hypothyroidism, was found detected in 18 infants: 12 ectopic gland, 5 athyreosis and 1 dyshormonogenesis. Treatment was begun at a mean age of 38 days (29 to 50 days).

Congenital Hypothyroidism↗
PubMedDate not supplied

[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↗