scholarly journals Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey

2021 ◽  
Vol 60 (5) ◽  
pp. 699-707
Author(s):  
Toshihiro Miyamoto ◽  
Masaki Iino ◽  
Yasuji Komorizono ◽  
Toru Kiguchi ◽  
Nobufusa Furukawa ◽  
...  
2021 ◽  
Vol 60 (14) ◽  
pp. 2347-2347
Author(s):  
Toshihiro Miyamoto ◽  
Masaki Iino ◽  
Yasuji Komorizono ◽  
Toru Kiguchi ◽  
Nobufusa Furukawa ◽  
...  

Diagnostics ◽  
2019 ◽  
Vol 9 (3) ◽  
pp. 86 ◽  
Author(s):  
Charles Nyagupe ◽  
Hemant Deepak Shewade ◽  
Serge Ade ◽  
Collins Timire ◽  
Hannock Tweya ◽  
...  

While reporting human immunodeficiency virus (HIV) viral load (VL) using dried blood spot (DBS) in the BioMerieux NucliSENS platform, application of the hematocrit correction factor has been suggested. In this cross-sectional study from the National Microbiology Reference Laboratory of Zimbabwe, we assessed whether hematocrit correction (individual and/or mean) in DBS results improved the correlation with plasma VL and prediction of VL non-suppression (≥1000 copies per ml in plasma). Of 517 specimens during August–December 2018, 65(12.6%) had non-suppressed plasma VL results. The hematocrit correction factor ranged from 1.3 to 2.0 with a mean of 1.6, standard deviation (SD: 1.5, 1.7). The intraclass correlation (ICC) for mean (0.859, 95% CI: 0.834, 0.880) and individual (0.809, 95% CI: 0.777, 0.837) hematocrit corrected DBS results were not significantly different. The uncorrected DBS results had a significantly lower ICC (0.640, 95% CI: 0.586, 0.688) when compared to corrected DBS results. There were no significant differences in validity, predictive values, and areas under the receiver operating characteristics curves for all three DBS results when predicting VL non-suppression. To conclude, hematocrit correction of DBS VL results improved agreement with the plasma results but did not improve prediction of VL non-suppression. The results were not significantly different for individual and mean corrected results.


2016 ◽  
Vol 102 (1) ◽  
pp. 23-32 ◽  
Author(s):  
Sara Stinca ◽  
Maria Andersson ◽  
Sandra Weibel ◽  
Isabelle Herter-Aeberli ◽  
Ralph Fingerhut ◽  
...  

Abstract Context: Thyroglobulin (Tg) could be a sensitive biomarker of iodine nutrition in pregnant women (PW). A dried blood spot (DBS) assay would simplify collection and transport in field studies. Objectives: Our aims were to (1) establish and test a reference range for DBS-Tg in PW; (2) determine whether co-measurement of Tg antibodies (Abs) is necessary to define population iodine status. Design, Setting, and Participants: Standardized cross-sectional studies of 3870 PW from 11 countries. For the DBS-Tg reference range, we included TgAb-negative PW (n = 599) from 3 countries with sufficient iodine intake. Main Outcome Measures: We measured the urinary iodine concentration and DBS thyroid-stimulating hormone, total thyroxin, Tg, and TgAb. Results: In the reference population, the median DBS-Tg was 9.2 μg/L (95% confidence interval, 8.7 to 9.8 μg/L) and was not significantly different among trimesters. The reference range was 0.3 to 43.5 μg/L. Over a range of iodine intake, the Tg concentrations were U-shaped. Within countries, the median DBS-Tg and the presence of elevated DBS-Tg did not differ significantly between all PW and PW who were TgAb-negative. Conclusions: A median DBS-Tg of ∼10 μg/L with <3% of values ≥44 μg/L indicated population iodine sufficiency. Concurrent measurement of TgAb did not appear necessary to assess the population iodine status.


2020 ◽  
Vol 11 ◽  
Author(s):  
Edouard Tuaillon ◽  
Dramane Kania ◽  
Amandine Pisoni ◽  
Karine Bollore ◽  
Fabien Taieb ◽  
...  

2018 ◽  
Author(s):  
Charles Chiku ◽  
Maria Zolfo ◽  
Mbazi Senkoro ◽  
Mzwandile Mabhala ◽  
Hannock Tweya ◽  
...  

Background: Early infant diagnosis (EID) of HIV in infants provides an opportunity for early detection of the infection and early access to Antiretroviral treatment (ART). Dried Blood Spot (DBS) samples are used for EID of HIV-exposed infants, born from HIV positive mothers. However, DBS rejection rates have been exceeding in Zimbabwe the target of less than 2% per month set by the National Microbiology Reference Laboratory (NMRL). The aim of this study was to determine the DBS samples rejection rate, the reasons for rejection and the possible associations between rejection and level of health facility where the sample was collected. Methods: Analytic cross-sectional study using routine DBS samples data from the NMRL in Harare, Zimbabwe, between January and December 2017. Results: A total of 34.950 DBS samples were received at the NMRL. Of these, 1291(4%) were rejected and reasons for rejections were: insufficient specimen volume (72%), missing request form (11%), missing sample (6%), cross contamination (6%), mismatch information (4%) and clotted sample (1%). Samples collected from clinics/rural health facilities had five times likelihood to be rejected compared to those from a central hospital. Conclusion: Rejection rates were above the set target of 2%. The reasons for rejection were 'pre-analytical' errors including labeling errors, sample damage, missing or inconsistent data, and insufficient volume. Samples collected at primary healthcare facilities had higher rejection rates. Key words: Operational Research, SORT IT, Early Infant Diagnosis, Dried Blood Spot


2021 ◽  
Author(s):  
Aidan M Nikiforuk ◽  
Brynn McMillan ◽  
Sofia R Bartlett ◽  
Ana Citlali Marquez ◽  
Tamara Pidduck ◽  
...  

Abstract: Importance: Measuring humoral immunogenicity of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) vaccines and finding population-level correlates of protection against coronavirus disease (COVID-19) presents an immediate challenge to public health practitioners. Objective: To study the diagnostic accuracy and predictive value of finger prick capillary dried blood spot (DBS) samples tested using an anti-immunoglobulin G (IgG) serology assay to measure SARS-CoV-2 seropositivity and the humoral immunogenicity of COVID-19 vaccination. Design, Setting and Participants: This cross-sectional study enrolled participants (n= 644) who had paired DBS and serum samples collected by finger prick and venipuncture, respectively, in British Columbia, Canada between January 12th, 2020 and May 21st, 2021. Samples were tested by a multiplex electrochemiluminescence assay for SARS-CoV-2 anti-Spike (S), -Nucleocapsid (N) and -receptor binding domain (RBD) IgG reactivity using a Meso Scale Discovery (MSD) platform. Additionally, unpaired DBS samples (n= 6,706) that were collected in the province during the same time period were included for analysis of SARS-CoV-2 anti-N IgG reactivity. Exposure: Collection of a capillary DBS by finger prick alone or paired with serum by venipuncture. Outcome: Humoral immune response to SARS-CoV-2 measured by detection of anti-S, -N or -RBD IgG. Results: In comparison to a paired-serum reference, DBS samples possessed a sensitivity of 80% (95% CI: 61%-91%) and specificity of 97% (95% CI: 95%-98%). Receiver operator characteristic curve analysis (ROC) found that participant DBS samples tested for anti-SARS-CoV-2 IgG by MSD V-PLEX COVID-19 Coronavirus Panel 2 assay accurately classify SARS-CoV-2 seroconversion at an 88% percent rate, AUC= 88% (95% CI: 81%-96%). Modelling found that a DBS-based testing approach has a high positive predictive value (PPV) (98% [95% CI: 98%-99%]) in a theoretical population with seventy-five percent COVID-19 vaccine coverage. At lower vaccine coverages of fifteen and forty-five percent, the test's PPV decreased and the negative predictive value increased. Conclusion: We demonstrate that DBS samples, when tested using an electrochemiluminescence assay, provide a valid alternative to traditional venipuncture and should be considered to reliably detect SARS-CoV-2 seropositivity.


2015 ◽  
Vol 144 (3) ◽  
pp. 627-634 ◽  
Author(s):  
M. CORTINA-BORJA ◽  
D. WILLIAMS ◽  
C. S. PECKHAM ◽  
H. BAILEY ◽  
C. THORNE

SUMMARYTo estimate HCV seroprevalence in subpopulations of women delivering live-born infants in the North Thames region in England in 2012, an unlinked anonymous (UA) cross-sectional survey of neonatal dried blood spot samples was conducted. Data were available from 31467 samples from live-born infants received by the North Thames screening laboratory. Thirty neonatal samples had HCV antibodies, corresponding to a maternal seroprevalence of 0·095% (95% confidence interval 0·067–0·136). Estimated HCV seroprevalences in women born in Eastern Europe, Southern Asia and the UK were 0·366%, 0·162% and 0·019%, respectively. For women born in Eastern Europe seroprevalence was highest in those aged around 27 years, while in women born in the UK and Asia-Pacific region, seroprevalence increased significantly with age. HCV seroprevalence in UK-born women whose infant's father was also UK-born was 0·016%. One of the 30 HCV-seropositive women was HIV-1 seropositive. Estimated HCV seroprevalence for women delivering live-born infants in North Thames in 2012 (0·095%) was significantly lower than that reported in an earlier UA survey in 1997–1998 (0·191%). Data indicate that the cohort of UK-born HCV-seropositive women is ageing and that, in this area of England, most perinatally HCV-exposed infants were born to women themselves born in Southern Asia or Eastern Europe.


Medunab ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 201-206 ◽  
Author(s):  
Lina María Vera Cala ◽  
Sergio Eduardo Serrano Gómez ◽  
Alexandra Cortés ◽  
Ismael Estrada ◽  
Aurora Gáfaro

Introducción: La enfermedad de Gaucher es un trastorno metabólico por deficiencia o ausencia de enzima β-Glucosidasa Ácida. El diagnóstico se sospecha clínicamente, pero requiere confirmación mediante medición, en leucocitos (estándar de oro) o en sangre seca sobre papel de filtro, de la actividad de la enzima β-Glucosidasa Ácida. Objetivo: Evaluar la validez de la medición de la actividad de la enzima β-Glucosidasa Ácida en sangre seca en papel de filtro, comparada con el estándar de oro, para el diagnóstico de enfermedad de Gaucher en pacientes con sospecha clínica. Metodología: Se hizo una revisión sistemática de literatura. Se construyó y validó una pregunta PICO. Se usó una estrategia de búsqueda genérica con base en los términos clave (Gaucher Disease y Dried Blood Spot Analysis). Dos evaluadores independientes revisaron, evaluaron la calidad y extrajeron la información de los artículos. Resultados: Descartando los duplicados, se obtuvieron 47 artículos. Se evaluaron los textos completos de cuatro, y tres de ellos fueron excluidos al aplicar criterios de inclusión y exclusión. El artículo incluido tuvo una calidad excelente y mostró que la actividad enzimática de la glucocerebrosidasa en sangre seca tuvo sensibilidad de 82.3% y especificidad de 94.0% con un punto de corte de 0.0-2.75 y sensibilidad de 88.2% y especificidad de 88.5% con un punto de corte de 0.0-4.4. Conclusiones: La medición enzimática de la β-glucosidasa ácida en sangre seca es una excelente prueba para diagnóstico inicial de enfermedad de Gaucher. Sin embargo, no es una prueba concluyente. [Vera-Cala LM, Serrano-Gómez SE, Córtes A, Estrada I, Gáfaro A. Validez de la prueba de actividad enzimática de la glucocerebrosidasa para el diagnóstico de enfermedad de Gaucher, revisión sistemática. MedUNAB 2017; 20(2): 201-206].


Author(s):  
Robert Butcher ◽  
Junely Tagabasoe ◽  
Joseph Manemaka ◽  
Annie Bong ◽  
Mackline Garae ◽  
...  

Abstract Background In the Solomon Islands and Vanuatu, the sign trachomatous inflammation—follicular (TF) is common, but ocular infection with Chlamydia trachomatis is not. It is therefore debatable whether azithromycin mass drug administration (MDA), the recommended antibiotic treatment strategy for trachoma’s elimination as a public health problem, is necessary in this setting. We set out to estimate what proportion of adolescents were at risk of progression of trachomatous scarring. Methods A cross-sectional survey was undertaken of all children aged 10–14 years resident in communities identified as high-TF clusters during previous population-based mapping. Graders examined children for clinical evidence of trachomatous scarring, pannus and Herbert’s pits (HPs) or limbal follilcles in both eyes. A dried blood spot was collected from each child and tested for antibodies to C. trachomatis. Results A total of 492 children in 24 villages of the Solomon Islands and Vanuatu were examined. 35/492 (7%) of children had limbal signs (pannus and/or HPs) plus any conjunctival scarring. 9/492 (2%) had limbal signs and moderate or severe conjunctival scarring. 22% of children were anti-Pgp3 seropositve. Conclusions Few adolescents here are at risk of future complications from trachoma, supporting the conclusion that further antibiotic MDA is not currently required for trachoma elimination purposes in these settings.


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