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Open AccessIncidence of bacterial and fungal infections in Polish pediatric patients with acute lymphoblastic leukemia during the pandemic
The most common complications related to the treatment of childhood acute lymphoblastic leukemia (ALL) are infections. The aim of the study was to analyze the incidence and mortality rates among pediatric pati...
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Article
Open AccessCorrection to: COVID-19 in pediatric cancer patients is associated with treatment interruptions but not with short-term mortality: a Polish national study
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Article
Open AccessElevated level of lysophosphatidic acid among patients with HNF1B mutations and its role in RCAD syndrome: a multiomic study
Patients with hepatocyte nuclear factor-1 beta (HNF1B) mutations present a variable phenotype with two main symptoms: maturity onset diabetes of the young (MODY) and polycystic kidney disease (PKD).
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Article
Open AccessGermline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
Isolated Congenital Asplenia (ICA, OMIM #271400) is a rare, life-threatening abnormality causing immunodeficiency, which is characterized by the absence of a spleen. Diagnosis should be completed in early chil...
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Article
Open AccessMolecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients
Hemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome of life-threatening inflammation caused by an excessive, prolonged and ineffective immune response. An increasing number of HLH cases is recogniz...
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Article
Open AccessCOVID-19 in pediatric cancer patients is associated with treatment interruptions but not with short-term mortality: a Polish national study
Coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) currently constitutes the leading and overwhelming health issue worldwide. In comparison with adults, ...
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Article
Severe and fatal toxicity after hematopoietic stem cell transplantation in GNE defect-associated thrombocytopenia
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SARS-CoV-2 Mpro inhibitors and activity-based probes for patient-sample imaging
In December 2019, the first cases of infection with a novel coronavirus, SARS-CoV-2, were diagnosed. Currently, there is no effective antiviral treatment for COVID-19. To address this emerging problem, we focu...
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Article
Open AccessResults of two consecutive treatment protocols in Polish children with acute lymphoblastic leukemia
The aim of the study was to retrospectively compare the effectiveness of the ALL IC-BFM 2002 and ALL IC-BFM 2009 protocols and the distribution of risk groups by the two protocols after minimal residual diseas...
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Article
Open AccessMLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL
Chromosome 21 abnormalities are the most frequent genetic findings in childhood B cell precursor acute lymphoblastic leukemia (BCP-ALL) cases. Majority of patients are effectively diagnosed with fluorescence i...
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Article
Dynamic changes in specific anti-L-asparaginase antibodies generation during acute lymphoblastic leukemia treatment
L-asparaginase (L-asp) remains one of the key components of acute lymphoblastic leukemia therapy. Immune reactions to the drug are associated with its diminished activity. The aim of the study was to determine...
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Article
Polymorphism in IKZF1 gene affects clinical outcome in diffuse large B-cell lymphoma
IKZF1 encodes a transcription factor involved in B-cell maturation and differentiation. We genotyped 218 diffuse large B-cell lymphoma (DLBCL) patients and 715 unrelated controls using a ...
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Article
What are the true volumes of SEGA tumors? Reliability of planimetric and popular semi-automated image segmentation methods
To evaluate the reliability of the standard planimetric methodology of volumetric analysis and three different open-source semi-automated approaches of brain tumor segmentation.
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Article
Open AccessCo-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report
Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this...
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Article
Open AccessFactors affecting long-term efficacy of T regulatory cell-based therapy in type 1 diabetes
Recent studies suggest that immunotherapy using T regulatory cells (Tregs) prolongs remission in type 1 diabetes (T1DM). Here, we report factors that possibly affect the efficacy of this treatment.
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Article
Everolimus treatment among patients with tuberous sclerosis affects serum lipid profile
The purpose of the study was to evaluate lipid homeostasis before and after treatment of everolimus, the mammalian target of the rapamycin (mTOR) inhibitor, among patients with tuberous sclerosis complex (TSC).
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Article
HLA-G and MHC Class II Protein Expression in Diffuse Large B-Cell Lymphoma
The expression of human leukocyte antigen-G (HLA-G) and HLA class II protein was studied by immunohistochemical staining of lymph nodes from 148 patients with diffuse large B-cell lymphoma (DLBCL) and related ...
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Article
Open AccessEURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlap** features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion...
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Article
Selected risk factors of fractures in children — own observation
Bone fractures may depend on Vitamin D Receptor Gene (VDR), bone mineral density, bone turnover markers. Patients and methods. 161 patients were recruited and underwent: skeletal densitometry (DXA) method and bon...
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Article
Vitamin D receptor gene variability as a factor influencing bone mineral density in pediatric patients
To determine the relationship between the polymorphism of vitamin D receptor gene and the bone mineral density in children. The study group consisted of 395 children aged 6–18 years. All patients underwent gen...
