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15 recordsLinked to original sources
PubMed2026

Takotsubo Syndrome: The First Non-Acute Proteomic Analysis by Remote Dried Blood Microsampling.

Takotsubo syndrome (TTS) is an under-recognized form of acute-onset heart failure typically precipitated by stress. While recovery of cardiac function is described over the course of weeks, adverse outcomes after apparent recovery are increasingly recognized. However, the pathophysiology of non-acute manifestations remains poorly understood. We used mass-spectrometry-based discovery proteomics from remotely collected non-acute dried blood microsamples to perform a case-control study in 62 participants with a prior TTS episode (median of 2.24 years prior to sample collection) and 47 reference controls. We quantified 398 unique proteins, and found that agnostic clustering techniques showed separation between TTS and reference control samples. This represents the first proteomic characterization of non-acute TTS. Pathway analysis of the 52 differentially regulated proteins demonstrated enrichment of proteins involved in complement activation, nitric oxide signaling, and with antioxidant activity. These enriched pathways may be suggestive of a persistent cardiomyopathy resulting from or predisposing to TTS.

Humans↗
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↗
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↗
PubMed1975

[Hepatic amebiasis in the Kilimanjaro region. Serodiagnosis on micro-specimens of dried blood and attempts at treatment with tinidazole (fasigyn)].

Amoebic dysentery appears to be rare in the northeast of Tanzania. Hepatic amoebiasis, on the other hand, is apparently widespread since at least 200 cases are seen every year at the Kilimanjaro Christian Medical Centre. This incidence of cases enabled us to carry out trials on the spot with a new imidazole derivative, Tinidazole. Formerly the difficult diagnosis based on clinical symptoms had to be buttressed by radiological evidence and possibly by the result of puncture. Indirect fluorescent antibody tests for the diagnosis of amoebiasis were performed elsewhere on all the patients, using for this purpose microspecimens of dried blood. In 12 cases out of 34 an agglutination test with sensitized latex particles was performed on the spot. This latter test has the practical advantage of being easy to employ. It cannot, however, be considered as a screening test since it is subject to downward and upward errors. The indirect fluorescent antibody test has been found to be constantly and highly positive, certain antibody titres attaining 1/6400. This fully confirms the value of the method even under special working conditions. Seventeen of our 34 patients (2 women and 15 men ranging in age from 20 to 75 years) were treated with 2 g of Tinidazole per day in a single dose for 2 to 3 consecutive days. Puncture to evacuate pus was also performed where abscesses had collected. Tolerance on the whole was good without a single sign of cardiovascular or urinary toxicity. However, paraesthesia of the hands was observed in one case, transitory thrombocytopenia in one other patient, and increased alkaline phosphatases. Minor disorders were also observed in our series of patients: mild vertigo (7 cases), headache (6 cases), and dry mouth (2 cases). After 8 months the therapeutic results were as follows: 12 complete cures out of 17, 2 improvements with final cure probable, 3 partial failures necessitating supplementary treatment with Metronidazole (2.4 g per day for 2 days). These preliminary trials appear to the encouraging and the study is being continued with series compared with cases treated with Emetine or Metronidazole.

Adult↗
PubMed2026

Same-day initiation of tenofovir alafenamide-based pre-exposure prophylaxis with drug-level feedback for transgender women in Uganda.

OBJECTIVE: To evaluate the feasibility and acceptability of same-day initiation of emtricitabine/tenofovir alafenamide (F/TAF) pre-exposure prophylaxis (PrEP) and test the impact of drug-level feedback on PrEP adherence among transgender women (TGW) in Uganda. DESIGN: Randomized controlled trial. METHODS: HIV-negative TGW were randomly assigned 1 : 1 to intervention (drug-level feedback with tailored adherence counseling) or standard-of-care (SOC), and followed quarterly for 12 months (November 2021-July 2023; NCT04491422). Quarterly clinic visits included demographic and socio-behavioral data collection, PrEP refills, STI testing, and quarterly PrEP adherence assessment using tenofovir levels in dried blood spots (DBS; long-term) and urine (short-term). RESULTS: We enrolled 200 TGW (100 per arm), median age 21 years. Same-day F/TAF PrEP initiation was 100%. Tenofovir detection in urine (intervention arm) was 79, 80, 85, and 70% at the 3, 6, 9, and 12-month visits, respectively. Tenofovir detection in DBS was 46, 40, 35, and 31% at 3, 6, 9, and 12 months, respectively. Median tenofovir DBS concentrations were 40.6 and 47.0 fmol/punch in intervention and SOC arms, respectively. There was no intervention effect on PrEP adherence (DBS tenofovir levels) [adjusted incidence rate ratio (aIRR) 1.06; 95% CI: 0.82-1.37]. Never being harassed by police for being transgender (aIRR 1.66; 95% CI: 1.24-2.23), history of taking daily medication for more than 7 days (aIRR 1.51; 95% CI: 1.18-1.93) and higher monthly income (aIRR 1.44; 95% CI: 1.10-2.04) were associated with PrEP adherence. CONCLUSION: Oral F/TAF PrEP adherence among TGW in Uganda was low and not affected by drug-level feedback or tailored adherence counseling. Long-acting injectable PrEP formulations should be considered for this population.

Humans↗
PubMed1979

[Screening for elevated creatine kinase activities for the early diagnosis of Duchenne muscular dystrophy].

A screening test for the determination of creatine kinase in a dry spot of the whole blood is used for the early identification of boys with Duchenne muscular dystrophy and girls with carrier properties of this hereditary disease. In the absence of an effective medical therapy, such screening leads to genetic counselling of the affected families with the purpose of avoiding the birth of further cases of Duchenne muscular dystrophy in the same families. The first results of a voluntary screening program in Germany are discussed.

Creatine Kinase↗
PubMed2025

Characterizing the genetic diversity and population structure of Plasmodium knowlesi in Aceh Province, Indonesia.

As in other parts of Southeast Asia, efforts to achieve or sustain malaria elimination in Indonesia have been threatened by the emergence of human infection with the primate species P. knowlesi. To understand the transmission dynamics of this species, investigation of P. knowlesi genetic diversity and population structure is needed. A molecular surveillance study was conducted in two phases between June 2014 and September 2018 at five primary health facilities in Aceh Province, Indonesia, an area nearing malaria elimination. Dried blood spot samples were collected from patients presenting with suspected malaria and testing positive for malaria by microscopy. PCR was performed for molecular confirmation and species identification. Forty-six samples were confirmed to be P. knowlesi, of which 41 were amplified with genotyping targeting ten known P. knowlesi microsatellite markers. For samples within a site, nearly all (9 of 10 loci) or all loci were polymorphic. Across sites, multiple identical haplotypes were observed, though linkage distribution in the population was low (index of association (IAS) = 0.008). The parasite population was indicative of low diversity (expected heterozygosity [HE] =  0.63) and low complexity demonstrated by 92.7% monoclonal infections, a mean multiplicity of infection of 1.06, and a mean within-host infection fixation index (FST) of 0.05. Principal coordinate and neighbour-joining tree analyses indicated that P. knowlesi strains from Aceh were distinct from those reported in Malaysia. In a near-elimination setting in Indonesia, we demonstrate the first evidence that P. knowlesi strains were minimally diverse and were genetically distinct from Malaysian strains, suggesting highly localized transmission and limited connectivity to Malaysia. Ongoing genetic surveillance of P. knowlesi in Indonesia can inform tracking and planning of malaria control and elimination efforts.

Plasmodium knowlesi↗
PubMedDate not supplied

[Value of indirect fluorescent tests for on the spot prospection of human African trypanosomiasis (author's transl)].

The equipment of a laboratory making indirect antibody-fluorescent tests on dried blood blots in the heart of the trypanosomiasis focus of Bouaflé (Ivory Coast) gave good results. On a visited population of 1444 people, 13 cases were diagnosed by immunofluorescence tests; 8 were already diagnosed on the spot, trypanosome found in gland juice; 5 were diagnosed following the results of immunofluorescence tests. Reduction of time between sampling and immunological results makes easier the search of suspects. Based on these observations, the writers emphasize the great value of the use of immunofluorescence technics on the spot and the establishment of a regional mobile immunofluorescence team for supplementing the work of local prospection teams.

Cote d'Ivoire↗
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↗
PubMed1978

A new method of paired thyrotropin assay as a screening test for neonatal hypothyroidism.

A simple and reliable method of paired TSH assay was developed and used in screening for neonatal primary hypothyroidism. In this method, a paired assay is first done. Equal parts of the extracts of dried blood spots on filter paper (9 mm diameter) from two infants 4-7 days old are combined and assayed for TSH by double antibody RIA. If the value obtained is over the cut-off point, the extracts are assayed separately for TSH in a second assay to identify the abnormal sample. Two systems, A and B, with different cut-off points were tested. On the basis of reference blood samples (serum levels of TSH, 80 microU/ml in system A and 40 microU/ml in system B), the cut-off point was selected as follows: upper 5 (A) or 4 (B) percentile in the paired assay and values of reference blood samples in the second individual assay. Four cases (2 in A and 2 in B) of neonatal primary hypothyroidism were found among 25 infants (23 in A and 2 in B) who were recalled from a general population 41,400 infants (24,200 in A and 17,200 in B) by 22,700 assays. This paired TSH neonatal hypothyroidism.

Congenital Hypothyroidism↗
PubMed1977

Early detection of neonatal hypothyroidism by serial TSH determination in dried blood. Six months experience with a reliable, efficient and inexpensive method.

Mass newborn screening for primary hypothyroidism was introduced in Switzerland on January 1st, 1977, using a radioimmunoassay of TSH in dried blood spotted on filter paper. After incubation for 38 h at 20 degrees C, bound and free TSH is separated by double antibody precipitation. The filter paper discs of 6.5 mm diameter remain in the test tubes. At present, one TSH determination costs approx. SFr. 4.40. All reagents used are commercially available and their costs amount to not more than 15% of the total expenses. During the first 8 months of 1977, of 21862 newborns tested routinely on day 5 (together with the Guthrie-test), 7 infants with primary hypothyroidism were discovered owing to blood TSH values of greater than 100 muU/ml. Diagnosis was not recognized clinically although all of the infants showed some symptoms. Thyroxin therapy was started within the second week of life. The incidence of about 1 in 3000 newborns is higher than reported so far. It has to be shown whether this is due to genetic or geographic factors, to the occurrence of transitory forms, or to a higher efficiency of screening by the TSH (versus T4) assay.

Blood Specimen Collection↗
PubMed2025

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.

PURPOSE: Early hearing detection and intervention (EHDI) programs using audiometric screening techniques alone have a limited ability to detect noncongenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors, including congenital cytomegalovirus and 22 common variants in GJB2 and SLC26A4. Here, we describe our experience in screening for genetic risk factors. METHODS: Ontario newborns who participated in universal newborn hearing screening (UNHS) were offered risk factor screening using dried blood spots (DBS) collected for conventional newborn screening. The screening was conducted using a custom MassArray assay, and positive results were confirmed by Sanger sequencing or polymerase chain reaction. Diagnostic audiological assessments were performed for all screen-positive infants. RESULTS: Of the 412,424 infants screened, 93 had 2 variants in GJB2 or SLC26A4. Of these, 72 had confirmed PHL, 20 had normal hearing, and 1 declined follow-up. Thirteen infants with PHL (1 in 31,724; 11.8% of screen positives) were not identified through audiometric testing as they passed (3) or missed (10) the screening. Importantly, among infants who ultimately received cochlear implants, the detection of genetic etiology through NBS led to an accelerated time to diagnosis, assessment, and intervention. CONCLUSION: Genetic screening has strengthened UNHS and care for infants with or at risk of PHL in Ontario. This study is a step toward the broader inclusion of genomic testing in NBS.

Humans↗
PubMed2026

Emerging multidimensional biomarker system for cardiovascular-kidney-metabolic syndrome: from multi-omics integration to clinical artificial intelligence.

Cardiovascular-kidney-metabolic (CKM) syndrome is an emerging clinical entity that highlights the complex, bidirectional interplay among cardiovascular disease, chronic kidney disease, and metabolic disorders, representing a substantial and growing global health burden. This conceptualization marks a paradigm shift from viewing these conditions in isolation to understanding them as an interconnected disease continuum. Traditional biomarkers face significant limitations in the early detection, risk stratification, and precise management of CKM, necessitating a transition towards an integrated framework that captures its multisystem nature. This review systematically outlines an emerging multidimensional biomarker system encompassing key pathological axes such as metabolism, immuno-inflammation, oxidative stress, and biological aging, offering refined risk assessment beyond conventional metrics. The development of this system is propelled by revolutionary platforms, including accessible sampling techniques (e.g., dried blood spots), advanced in vitro models (e.g., multi-organ-on-a-chip), and multi-omics technologies. These platforms not only facilitate a deeper dissection of the heterogeneous origins and inter-organ crosstalk in CKM but also accelerate the discovery and validation of novel biomarkers. Concurrently, artificial intelligence serves as a pivotal tool for clinical translation, effectively integrating high-dimensional data to transform complex molecular profiles into actionable clinical insights. By enabling the construction of dynamic risk prediction and decision-support systems, this review charts a pathway toward proactive, individualized, and precise prevention and management of CKM syndrome.

Humans↗