A Molecular Diagnostic Algorithm to Guide Pollen Immunotherapy in Southern Europe: Towards Component-Resolved Management of Allergic Diseases

2013 ◽  
Vol 162 (2) ◽  
pp. 163-172 ◽  
Author(s):  
Nikolaos Douladiris ◽  
Savvas Savvatianos ◽  
Irene Roumpedaki ◽  
Chrysanthi Skevaki ◽  
Dimitrios Mitsias ◽  
...  
Keyword(s):  
Diagnostic Algorithm ◽  
Allergic Diseases ◽  
Molecular Diagnostic ◽  
Southern Europe

scholarly journals The burden of congenital Chagas disease and implementation of molecular diagnostic tools in Latin America

2018 ◽  
Vol 3 (5) ◽  
pp. e001069 ◽  
Author(s):  
Albert Picado ◽  
Israel Cruz ◽  
Maël Redard-Jacot ◽  
Alejandro G Schijman ◽  
Faustino Torrico ◽  
...  
Keyword(s):  
Latin America ◽  
Chagas Disease ◽  
Diagnostic Algorithm ◽  
Diagnostic Methods ◽  
Diagnosis And Treatment ◽  
Molecular Diagnostic ◽  
Diagnostic Tools ◽  
Molecular Tests ◽  
Epidemiological Impact ◽  
And Performance

It is estimated that between 8000 and 15 000 Trypanosoma cruzi infected babies are born every year to infected mothers in Chagas disease endemic countries. Currently, poor access to and performance of the current diagnostic algorithm, based on microscopy at birth and serology at 8–12 months after delivery, is one of the barriers to congenital Chagas disease (CCD) control. Detection of parasite DNA using molecular diagnostic tools could be an alternative or complement to current diagnostic methods, but its implementation in endemic regions remains limited. Prompt diagnosis and treatment of CCD cases would have a positive clinical and epidemiological impact. In this paper, we analysed the burden of CCD in Latin America, and the potential use of molecular tests to improve access to early diagnosis and treatment of T. cruzi infected newborns.

A simple and rapid diagnostic algorithm for the detection of ocular allergic diseases

2009 ◽  
Vol 9 (5) ◽  
pp. 471-476 ◽  
Author(s):  
Flavio Mantelli ◽  
Alessandro Lambiase ◽  
Stefano Bonini
Keyword(s):  
Diagnostic Algorithm ◽  
Allergic Diseases

scholarly journals Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic

2015 ◽  
Vol 97 ◽  
Author(s):  
SERGIO ALEJANDRO RODRÍGUEZ-QUIROGA ◽  
MARTA CORDOBA ◽  
DOLORES GONZÁLEZ-MORÓN ◽  
NANCY MEDINA ◽  
PATRICIA VEGA ◽  
...  
Keyword(s):  
Analytical Study ◽  
Diagnostic Yield ◽  
Positive Family History ◽  
Group Analysis ◽  
Diagnostic Algorithm ◽  
Molecular Diagnostic ◽  
Main Complaint ◽  
Progressive Ataxia ◽  
Common Group ◽  
Generation Sequencing

SummaryAs a whole neurogenetic diseases are a common group of neurological disorders. However, the recognition and molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of information regarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective, observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medical centre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalized clinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohort of 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patients whose main complaint was the presence of progressive ataxia, to whom we applied a systematic molecular diagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if we only considered those patients where a molecular test could be performed, the success rate rises to 45%. We obtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxic patients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogenetic clinic could be successfully diagnosed.

scholarly journals Reevaluation of an Acanthamoeba Molecular Diagnostic Algorithm following an Atypical Case of Amoebic Keratitis

2015 ◽  
Vol 53 (10) ◽  
pp. 3213-3218 ◽  
Author(s):  
Rachel Lau ◽  
Marlou Cunanan ◽  
Jonathan Jackson ◽  
Ibne Karim M. Ali ◽  
Ann Chong-Kit ◽  
...  
Keyword(s):  
Predictive Value ◽  
Gold Standard ◽  
Acanthamoeba Castellanii ◽  
Diagnostic Algorithm ◽  
Molecular Diagnostic ◽  
Quality Improvement Initiative ◽  
Content Type ◽  
Clinical Specimens ◽  
Standard Assay ◽  
Amoebic Keratitis

Amoebic keratitis (AK) is a potentially blinding infection, the prompt diagnosis of which is essential for limiting ocular morbidity. We undertook a quality improvement initiative with respect to the molecular detection of acanthamoebae in our laboratory because of an unusual case of discordance. Nine ATCC strains ofAcanthamoebaand 40 delinked, biobanked, surplus corneal scraping specimens were analyzed for the presence of acanthamoebae with four separate real-time PCR assays. The assay used by the Free-Living and Intestinal Amebas Laboratory of the CDC was considered the reference standard, and the performance characteristics of each individual assay and pairs of assays were calculated. Outcome measures were sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Of 49 included specimens, 14 (28.6%) were positive by the gold standard assay, and 35 (71.4%) were negative. The sensitivities of the individual assays ranged from 64.3% to 92.9%, compared to the gold standard, while the specificities ranged from 88.6% to 91.4%. The PPVs and NPVs ranged from 69.2% to 78.6% and from 86.1% to 96.9%, respectively. Combinations of assay pairs led to improved performance, with sensitivities ranging from 92.9% to 100% and specificities ranging from 97.1% to 100%. ATCC and clinical strains ofAcanthamoebathat failed to be detected by certain individual assays includedAcanthamoeba castellanii,Acanthamoeba culbertsoni, andAcanthamoeba lenticulata. For three clinical specimens, false negativity of the gold standard assay could not be excluded. Molecular diagnostic approaches, especially combinations of highly sensitive and specific assays, offer a reasonably performing, operator-independent, rapid strategy for the detection of acanthamoebae in clinical specimens and are likely to be more practical than either culture or direct microscopic detection.

IDH mutation analysis is not suitable for the routine molecular diagnostic algorithm in myeloproliferative and myelodysplastic neoplasms

Blood ◽  
2010 ◽  
Vol 116 (23) ◽  
pp. 5073-5074 ◽  
Author(s):  
Kais Hussein ◽  
Bianca M. Engelhardt ◽  
Hans Kreipe ◽  
Oliver Bock
Keyword(s):  
Mutation Analysis ◽  
Diagnostic Algorithm ◽  
Molecular Diagnostic ◽  
Idh Mutation

scholarly journals Identification the Cross-Reactive or Species-Specific Allergens of Tyrophagus putrescentiae and Development Molecular Diagnostic Kits for Allergic Diseases

Diagnostics ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 665
Author(s):  
Ching-Hsiang Yu ◽  
Jaw-Ji Tsai ◽  
Yi-Hsueh Lin ◽  
Sheng-Jie Yu ◽  
En-Chih Liao
Keyword(s):  
Prediction Accuracy ◽  
Allergic Diseases ◽  
House Dust Mites ◽  
Molecular Diagnostic ◽  
Elderly Subjects ◽  
Recombinant Allergens ◽  
Tyrophagus Putrescentiae ◽  
Mite Allergy ◽  
The Cross ◽  
Species Specific

Mite allergens are considerable factors in the genesis of allergic diseases. The storage mite Tyrophagus putrescentiae (Tp) appears in contaminated foods and household surroundings. The current diagnostic tools for Tp allergy are mostly based on crude extracts and still contain shortcomings. This study aimed to investigate the immunoglobulin E (IgE)- responsiveness profiles of Tp-allergic patients and develop a molecular diagnostic method using recombinant allergens. Allergenic components were characterized as cross-reacting or species-specific allergens, in which the effective combinations of recombinant allergens were developed and analyzed in terms of the prediction accuracy for clinical diagnosis. Seven recombinant allergens were cloned and generated to detect the IgE responsiveness of the Tp allergy. A survey on the prevalence of mite allergy showed there were higher sensitizations with IgE responsiveness to house dust mites (HDM) (78.9–80.9%) than to storage mites Tp (35.6%). Prevalence of sensitization to Tp was higher in elderly subjects. The principal IgE-binding components of Tp were Tyr p 1, Tyr p 2 and Tyr p 3. Prediction accuracy for Tp allergy by IgE-responsiveness combination D (Tyr p 1, Tyr p 2 & Tyr p 3) was with high precision (100%). Avoiding the cross-reactivity of Dermatophagoides pteronyssinus, the prediction accuracy of IgE-responsiveness combination H+ (Tyr p 1, Tyr p 2, Tyr p 3, Tyr p 7, Tyr p 8, Tyr p 10 & Tyr p 20) was suitable for Tp-specific diagnosis. Panels of Tp allergens were generated and developed a diagnostic kit able beneficial to identify IgE-mediated Tp hypersensitivity.

A molecular diagnostic algorithm for JAK2 V617F investigations in suspected myeloproliferative neoplasms

2019 ◽  
Vol 189 (2) ◽  
pp. 621-626 ◽  
Author(s):  
Mark Alexander Catherwood ◽  
Roisin McAllister ◽  
Patrick McCallion ◽  
Julie Elizabeth McGimpsey ◽  
Andrew Hindley ◽  
...  
Keyword(s):  
Myeloproliferative Neoplasms ◽  
Diagnostic Algorithm ◽  
Jak2 V617f ◽  
Molecular Diagnostic
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