Results 41 to 50 of about 1,539,409 (267)

Mutating OWLs: Semantic Mutation Testing for Ontologies [PDF]

Proceedings of the International Workshop on domAin specific Model-based AppRoaches to vErificaTion and validaTiOn, 2016
Ontologies are an essential component of semantic knowledge bases and applications, and nowadays they are used in a plethora of domains. Despite the maturity of ontology languages, support tools and engineering techniques, the testing and validation of ontologies is a field which still lacks consolidated approaches and tools.
openaire   +2 more sources

Measurable Residual Disease Monitoring During Treatment for Pediatric Acute Myeloid Leukemia in First Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survival after relapse in pediatric acute myeloid leukemia (AML) remains poor, highlighting the critical importance of identifying prognostic factors to guide optimal relapse management. Methods We investigated the prognostic impact of multiparameter flow cytometry (MFC) measurable residual disease (MRD) in 188 patients with first ...
Camilla Poulsen, Kristian Juul Sandahl, Lene Karlsson, Jonas Abrahamsson, Nira Arad‐Cohen, Daniel Cheuk, Barbara De Moerloose, Linda Fogelstrand, Jose Maria Fernandez Navarro, Bianca F. Goemans, Kirsi Jahnukainen, Gertjan Kaspers, Zhanna Kovalova, Monica Cheng Munthe‐Kaas, Ulrika Norén‐Nyström, Josefine Palle, Ramune Pasauliene, Cornelis Jan Pronk, Kadri Saks, Anne Tierens, Henrik Hasle, Kristian Løvvik Juul‐Dam   +21 more
wiley   +1 more source

HEREDITY, MUTABILITY AND PATHOLOGY

Вопросы современной педиатрии, 2012
The first part of the lecture on «Heredity, mutability and pathology», in which the problems of etiology, pathogenesis and clinical manifestations of hereditary diseases (genetic and chromosomal) are analyzed, is published in the current issue of the ...
P. F. Litvitskii
doaj   +1 more source

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

Genetic variants of hepatitis B virus in patients with chronic hepatitis B

Журнал инфектологии, 2015
Introduction. Biological properties of virus, such as susceptibility to antivirals, the clinical course of chronic hepatitis B (CHB), the probability of developing cirrhosis and hepatocellular carcinoma are determined by genotype and mutations in the ...
E. A. Elpaeva, O. E. Nikitina, M. M. Pisareva, I. V. Shilova, V. A. Greshnjakova, M. P. Grudinin, O. I. Kiselev   +6 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

A Population‐Based Study on Childhood Aplastic Anemia—Incidence, Outcomes, and Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala, Riitta Niinimäki, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Pauliina Utriainen, Henri Aarnivala   +8 more
wiley   +1 more source

Mutagenesis and Functional Analysis of the Pore-Forming Toxin HALT-1 from Hydra magnipapillata

Toxins, 2015
Actinoporins are small 18.5 kDa pore-forming toxins. A family of six actinoporin genes has been identified in the genome of Hydra magnipapillata, and HALT-1 (Hydra actinoporin-like toxin-1) has been shown to have haemolytic activity.
Yvonne Jing Mei Liew, Wai Tuck Soh, William Febry Jiemy, Jung Shan Hwang   +3 more
doaj   +1 more source

Nephrogenic Rests/Nephroblastomatosis in Patients With Unilateral Wilms Tumor Are Not Associated With an Increased Risk of Relapse: An Analysis of Patients Treated on the SIOP‐WT‐2001 Protocol in the SIOP‐UK‐CCLG and SIOP‐GPOH Studies (2001–2022)

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Nephrogenic rests (NRs) and nephroblastomatosis (NBM) are precursor lesions for development of Wilms tumor (WT). Their association with the risk of relapse has not been properly assessed, partly due to misunderstanding of their diagnostic criteria and terminology.
Gordan M. Vujanić, Rhoikos Furtwängler, Tanzina Chowdhury, Christian Vokuhl, Jenny Wegert, Norbert Graf   +5 more
wiley   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source