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Reclassifying inconclusive diagnosis for cystic fibrosis with new generation sweat test.

Authors:
Thao Nguyen-Khoa Aurélie Hatton David Drummond Laura Aoust Joël Schlatter Clémence Martin Sophie Ramel Sébastien Kiefer Elsa Gachelin Nathalie Stremler Laure Cosson Asma Gabsi Natascha Remus Myriam Benhamida Alice Hadchouel Isabelle Fajac Anne Munck Emmanuelle Girodon Isabelle Sermet-Gaudelus

Eur Respir J 2022 Aug 4;60(2). Epub 2022 Aug 4.

INSERM U 1151, Institut Necker Enfants Malades, Paris, France

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http://dx.doi.org/10.1183/13993003.00209-2022DOI Listing
August 2022

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Reclassifying inconclusive diagnosis for cystic fibrosis with new generation sweat test.

Authors:
Thao Nguyen-Khoa Aurélie Hatton David Drummond Laura Aoust Joël Schlatter Clémence Martin Sophie Ramel Sébastien Kiefer Elsa Gachelin Nathalie Stremler Laure Cosson Asma Gabsi Natascha Remus Myriam Benhamida Alice Hadchouel Isabelle Fajac Anne Munck Emmanuelle Girodon Isabelle Sermet-Gaudelus

Eur Respir J 2022 Aug 4;60(2). Epub 2022 Aug 4.

INSERM U 1151, Institut Necker Enfants Malades, Paris, France

View Article and Full-Text PDF
August 2022
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Enhanced quantitative method for the diagnosis of grade 1 cardiac amyloidosis in mTc-DPD scintigraphy.

Authors:
María Del Carmen Mallón Araujo Estephany Abou Jokh Casas Charigan Abou Jokh Casas Pablo Aguiar Fernández María Amparo Martínez Monzonís Bernardo Sopeña Pérez-Argüelles Virginia Pubul Núñez

Sci Rep 2022 02 2;12(1):1740. Epub 2022 Feb 2.

Department of Nuclear Medicine, Santiago de Compostela University Hospital, Santiago de Compostela, Spain.

The lack of a standardized cut-off value in the quantitative method and an inter-observer disagreement in the evaluation of the semiquantitative score in mTc-DPD scintigraphy leaves several patients with cardiac amyloidosis (CA) undiagnosed (grade 1 and H/CL: 1-1.49). This study aims to increase diagnostic productivity of mTc-DPD scintigraphy in CA. Read More

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February 2022
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Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward.

Authors:
Aurelie Hatton Anne Bergougnoux Katarzyna Zybert Benoit Chevalier Myriam Mesbahi Jean Pierre Altéri Katarzyna Walicka-Serzysko Magdalena Postek Magali Taulan-Cadars Aleksander Edelman Alexandre Hinzpeter Mireille Claustres Emmanuelle Girodon Caroline Raynal Isabelle Sermet-Gaudelus Dorota Sands

J Cyst Fibros 2022 05 21;21(3):448-455. Epub 2021 Dec 21.

Cystic Fibrosis Department, Institute of Mother and Child, Warsaw, Poland.

Background: Newborn screening for Cystic Fibrosis (CF) is associated with situations where the diagnosis of CF or CFTR related disorders (CFTR-RD) cannot be clearly ruled out.

Materials/patients And Methods: We report a case series of 23 children with unconclusive diagnosis after newborn screening for CF and a mean follow-up of 7.7 years (4-13). Read More

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May 2022
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Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive Diagnosis at School Age.

Authors:
Tanja Gonska Katherine Keenan Jacky Au Annie Dupuis Mark A Chilvers Caroline Burgess Candice Bjornson Lori Fairservice Janna Brusky Tamizan Kherani Amanda Jober Lorna Kosteniuk April Price Jennifer Itterman Lenna Morgan Dimas Mateos-Corral Daniel Hughes Christine Donnelly Mary Jane Smith Shaikh Iqbal Jocelyn Arpin Joe Reisman Joanne Hammel Richard van Wylick Michael Derynck Natalie Henderson Melinda Solomon Felix Ratjen

Pediatrics 2021 12;148(6)

Respiratory Medicine, Department of Pediatrics.

Background And Objectives: Cystic fibrosis (CF) screen-positive infants with an inconclusive diagnosis (CFSPID) are infants in whom sweat testing and genetic analysis does not resolve a CF diagnosis. Lack of knowledge about the health outcome of these children who require clinical follow-up challenges effective consultation. Early predictive biomarkers to delineate the CF risk would allow a more targeted approach to these children. Read More

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December 2021
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Development and optimization of a new MALDI-TOF protocol for identification of the Sporothrix species complex.

Authors:
Manoel Marques Evangelista Oliveira Cledir Santos Paula Sampaio Orazio Romeo Rodrigo Almeida-Paes Célia Pais Nelson Lima Rosely Maria Zancopé-Oliveira

Res Microbiol 2015 Feb-Mar;166(2):102-10. Epub 2015 Jan 3.

Laboratório de Micologia, Instituto Nacional de Infectologia Evandro Chagas, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brazil.

Accurate species identification of the Sporothrix schenckii complex is essential, since identification based only on phenotypic characteristics is often inconclusive due to phenotypic variability within the species. We used matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) for species identification of 70 environmental and clinical isolates of the Sporothrix complex. A reference database was established for MALDI-TOF MS-based species identification according to minor adjustments in the manufacturer's guidelines. Read More

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August 2015
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