Results 11 to 20 of about 3,703 (207)

Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022–2025 [PDF]

Frontiers in Immunology
IntroductionSevere combined immunodeficiency (SCID) and other profound T- and B-cell lymphopenias are life-threatening conditions that benefit from early diagnosis and treatment.
Oksana Boyarchuk, Halyna Makukh, Alla Volokha, Alla Volokha, Anastasiia Bondarenko, Anastasiia Bondarenko, Nataliia Mytsyk, Oksana Barvinska, Ivanna Shymanska, Yuliia Pohuliai, Mykola Veropotvelyan, Anastasia Haviley, Marharyta Hurina, Yaryna Romanyshyn, Maryna Trophymova, Iryna Hrabovska, Oksana Malko, Tetiana Tsanko, Oksana Tykholaz, Oleksandr Lysytsia, Nataliia Samonenko, Nataliia Olkhovych   +21 more
doaj   +2 more sources

Primer estudio piloto para el tamizaje neonatal de linfopenias T y B en Colombia [PDF]

Biomédica: revista del Instituto Nacional de Salud
Introducción. La detección temprana de linfopenias congénitas facilitaría su tratamiento oportuno y la prevención de complicaciones serias, y optimizaría los recursos del sistema de salud. Objetivo. Realizar un estudio piloto para el tamizaje neonatal de
Sebastián Gutiérrez-Hincapié, Carlos Muskus-López, Isaura Pilar Sánchez, José Luis Franco-Restrepo, Claudia M. Trujillo-Vargas   +4 more
doaj   +2 more sources

Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT) [PDF]

Frontiers in Immunology, 2017
BackgroundNijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features.
Elena Deripapa, Dmitry Balashov, Yulia Rodina, Alexandra Laberko, Natalya Myakova, Nataliia V. Davydova, Nataliia V. Davydova, Maria A. Gordukova, Dmitrii S. Abramov, Galina V. Pay, Larisa Shelikhova, Andrey P. Prodeus, Andrey P. Prodeus, Mikhail A. Maschan, Alexey A. Maschan, Anna Shcherbina   +15 more
doaj   +2 more sources

The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome. [PDF]

PLoS ONE, 2014
DiGeorge syndrome (DGS) presents with a wide spectrum of thymic pathologies. Nationwide neonatal screening programs of lymphocyte production using T-cell recombination excision circles (TREC) have repeatedly identified patients with DGS.
Eva Froňková, Adam Klocperk, Michael Svatoň, Michaela Nováková, Michaela Kotrová, Jana Kayserová, Tomáš Kalina, Petra Keslová, Felix Votava, Hana Vinohradská, Tomáš Freiberger, Ester Mejstříková, Jan Trka, Anna Sedivá   +13 more
doaj   +4 more sources

Exploring TREC and KREC Levels in Nursing Home Residents and Staff and Their Association with SARS-CoV-2 Antibody Response After Vaccination [PDF]

Vaccines
Background: T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) are markers of recent thymic and bone marrow output, respectively.
Eline Meyers, Natalja Van Biesen, Liselore De Rop, Tine De Burghgraeve, Marina Digregorio, Laëtitia Buret, Samuel Coenen, Beatrice Scholtes, Jan Y. Verbakel, Stefan Heytens, Piet Cools   +10 more
doaj   +2 more sources

DETERMINATION OF REFERENCE VALUES FOR TREC AND KREC IN DRY BLOOD SPOTS OF NEWBORNS FROM DIFFERENT GESTATION AGES IN SVERDLOVSK REGION

Медицинская иммунология, 2018
As a preparatory stage for implementation of genetic testing for severe combined immunodeficiency under a neonatal screening program, a study was performed in Sverdlovsk Region which concerned quantitative determination of T and B cell neogenesis markers
S. S. Deryabina, I. A. Tuzankina, V. N. Shershnev   +2 more
doaj   +3 more sources

Features of the pre-analytical stage in quantitative determination of TREC/KREC in peripheral blood

Медицинская иммунология, 2023
The use of dried blood spots (DBS) obtained from the heels of infants has many advantages over the collection of whole blood samples. DNA extracted from DBS can be used to detect genetic diseases by PCR, which has contributed to the development of ...
M. A. Saitgalina, Yu. V. Ostankova, A. V. Sedykh, A. A. Totolian   +3 more
doaj   +3 more sources

Photoinactivation vs repair of photosystem II as target of thermal stress in epipelic and epipsammic microphytobenthos communities. [PDF]

PLoS ONE, 2023
Microphytobenthos (MPB) inhabiting intertidal flats are exposed to large and sudden changes in temperature, often simultaneously with exposure to direct sunlight.
Cláudia Bártolo, Silja Frankenbach, João Serôdio   +2 more
doaj   +2 more sources

The role of TRECs/KRECs as immune indicators that reflect immunophenotypes and predict the risk of infection in systemic autoimmune diseases

Immunological Medicine
T cell receptor rearrangement excision circles (TRECs) and immunoglobulin κ-deleting recombination excision circles (KRECs) represent the lymphopoiesis capacity, widely used for newborn screening of inborn errors of immunity.
Takuji Itakura, Hirokazu Sasaki, Tadashi Hosoya, Natsuka Umezawa, Tetsuya Saito, Hideyuki Iwai, Hisanori Hasegawa, Hiroyuki Sato, Akihiro Hirakawa, Kohsuke Imai, Tomohiro Morio, Naoki Kimura, Shinsuke Yasuda   +12 more
doaj   +2 more sources

TREC and KREC values in patients with congenital heart defects — neonatal screening data

Аллергология и Иммунология в Педиатрии
Relevance. Children with congenital heart disease (CHD) are at high risk of infectious complications with unfavorable outcomes, which is associated with inadequate immune responses.
L. Yu. Barycheva, L. I. Bachieva, A. A. Puchkov, J. G. Selezneva, N. A. Kozmova   +4 more
doaj   +2 more sources