Sylwia Kołtan
A5003538591- Immunodeficiency and Autoimmune Disorders
- Acute Lymphoblastic Leukemia research
- Childhood Cancer Survivors' Quality of Life
- DNA Repair Mechanisms
- Blood disorders and treatments
- CRISPR and Genetic Engineering
- Chronic Lymphocytic Leukemia Research
- Acute Myeloid Leukemia Research
- Immune Cell Function and Interaction
- Hepatitis B Virus Studies
- Neutropenia and Cancer Infections
- Hematopoietic Stem Cell Transplantation
- Hematological disorders and diagnostics
- Platelet Disorders and Treatments
- Respiratory viral infections research
- Hepatitis C virus research
- Carcinogens and Genotoxicity Assessment
- Polyomavirus and related diseases
- Blood groups and transfusion
- Pediatric health and respiratory diseases
- Nitric Oxide and Endothelin Effects
- Cancer-related Molecular Pathways
- Sarcoma Diagnosis and Treatment
- Liver Disease Diagnosis and Treatment
- Neuroblastoma Research and Treatments
Nicolaus Copernicus University
2015-2024
Antoni Jurasz University Hospital
2019-2024
Collegium Medicum in Bydgoszcz
2015-2024
University of Bydgoszcz
2001-2017
Creative Commons
2015
Academy of Medical Sciences
2013
Manisa Celal Bayar University
2012
Palmetto Hematology Oncology
2010
Łukasiewicz Research Network
2001
Objectives The aim of the study was to assess symptoms women and describe relationship between women's attitude towards menopause quality life.Methods This conducted from November 2010 April 2011 at Celal Bayar University Faculty Medicine 494 agreed participate in study. Women's attitudes life were evaluated by Menopause-specific Quality Life (MENQOL) questionnaires.Results Women with no education had highest scores for vasomotor, psychosocial physical cluster (4.1 ± 2.0, 3.1 1.6, 3.2 1.4,...
BackgroundActivated phosphoinositide 3-kinase delta syndrome (APDS) is a combined immunodeficiency with heterogeneous phenotype considered reversible by allogeneic hematopoietic cell transplantation (HCT).ObjectivesThis study sought to characterize HCT outcomes in APDS.MethodsRetrospective data were collected on 57 patients APDS1/2 (median age, 13 years; range, 2-66 years) who underwent HCT.ResultsPre-HCT comorbidities such as lung, gastrointestinal, and liver pathology common, hematologic...
Abstract Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 ( CXCR4 ) gene. We characterize unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct genetic variants within our cohort, 11 were novel pathogenic affecting 15 individuals (23%). All affect same region impair...
Nijmegen breakage syndrome (NBS) is a DNA repair disorder with high predisposition to hematologic malignancies.We describe the natural history of NBS, including cancer incidence, risk death, and potential effectiveness hematopoietic stem cell transplantation (HSCT) in preventing both pathologies: malignancy immunodeficiency.Among 241 patients NBS enrolled study from 11 countries, 151 (63.0%) were diagnosed cancer. Incidence rates for primary secondary cancer, tumor characteristics, factors...
Inborn errors of immunity (IEI) refer to genetically determined disorders presenting with recurrent infections, autoimmunity, allergies, and malignancies. IEI is now commonly used, replacing the previously used term primary immunodeficiencies (PID). The 10 warning signs are widely in identification patients IEI. aim study was determine compare utility 14 diagnosing.A retrospective analysis 2851 performed (98.17% were subjects under 18 years old 1.83% adults). All questioned about four...
Abstract Background Activated PI3K delta syndrome (APDS) belongs to the heterogeneous group of primary immunodeficiency disorders (PIDs). Progress in next-generation sequencing (NGS) enabled identification gain-of-function mutations phosphoinositide 3-kinase (PI3K) genes. Depending on type causative mutation, APDS is classified into two types: 1 and 2. To date, less than 100 cases have been reported. Clinical symptoms result from impaired immune regulation are clinically manifested by...
BACKGROUND. Variants in recombination-activating genes (RAG) are common genetic causes of autosomal recessive forms combined immunodeficiencies (CID) ranging from severe immunodeficiency (SCID), Omenn syndrome (OS), leaky SCID and CID with granulomas and/or autoimmunity (CID-G/AI) even milder presentation antibody deficiency. OBJECTIVE. We aim to estimate the incidence, clinical presentation, variability treatment outcome geographic distribution patients RAG defects populations inhabiting...
Hydroa vacciniforme-like lymphoproliferative disorder (HV-LPD) is a cutaneous form of chronic active Epstein-Barrvirus (EBV) infection, which can develop into the extremely rare systemic lymphoma. Patients with Inborn errors immunity (IEI), such as common variable immunodeficiency (CVID), are at higher risk developing severe course infections especially viral and malignancies than general population. The aim study was to present complex diagnostic therapeutic management HV-LPD. clinical...
Abstract Inherited biallelic mutations of the ATM gene are responsible for development ataxia telangiectasia ( AT ). The objective present study was to conduct molecular analysis in a cohort 24 Polish patients with ataxia‐telangiectasia aim being provide an updated mutational spectrum patients. As result analysis, status recurrent mutation confirmed and ten new variants were detected. Application MLPA allowed detection large genomic deletion. Previously, this type had never been seen our...
At the beginning of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic, patients with inborn errors immunity (IEI) appeared to be particularly vulnerable a severe course disease. It quickly turned out that only some IEI groups are associated high risk infection. However, data on Disease 2019 (COVID-19) in still insufficient, especially children; hence, further analyses required. The retrospective study included 155 unvaccinated people IEI: 105 children and 50 adults (67.7%...
Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia anomalies NOD2 gene. The product this gene is Nod2 protein, taking part in maintenance homeostasis. Clinical form resultant condition depends on genotype; usually patients with defects present Blau syndrome, NOD2-associated disease (NAID) or Crohn's disease. We the case a 7-year-old girl co-existing symptoms two diseases, syndrome...
Primary immunodeficiencies (PIDs) are rare disorders of the immune system encompassing inborn errors immunity. antibody deficiencies constitute largest group PID with common variable immunodeficiency (CVID) being most symptomatic form. Combined (CID) accompanied by deficiency can mimic CVID and these patients need verification final diagnosis. Respiratory involvement, especially interstitial lung disease (ILD), poses a relevant cause morbidity mortality among in some cases is first...
Since 1983 four consecutive unified regimens: acute myeloid leukemia-Polish pediatric leukemia/lymphoma study group (AML-PPLLSG) 83, AML-PPLLSG 94, 98 and AML-BFM 2004 Interim, for AML have been conducted by the Polish Pediatric Leukemia/Lymphoma Study Group (PPLLSG). In this paper, we review successive studies on basis of leukemia-Berlin-Frankfurt-Munster (AML-BFM) protocol, in which a stepwise improvement treatment outcome was observed. Treatment results last protocol Interim are presented...
Myeloid sarcoma (MS) is an extramedullary malignant tumor composed of immature myeloid cells. It occurs in patients with acute leukemia (AML), myelodysplastic syndrome (MDS), or chronic (CML). MS may coincide disease diagnosis precede bone marrow involvement by months even years; it can also represent the manifestation a relapse (1, 2).The aim this study to describe clinical characteristics children diagnosed Poland as well analyze diagnostic methods, treatment, and outcomes including...
Background:Pneumatosis cystoides intestinalis (PCI) is a rare disorder characterized by the presence of multiple gas collections in subserosal or submucosal intestinal wall large small intestine.We report two cases PCI course chronic graft-versus-host disease. Case Report:A 5-year-old girl was treated for acute lymphoblastic leukemia.Twenty-four months after hematopoietic stem cell transplantation, disease, she developed subcutaneous emphysema right inguinal and pudendal region.PCI diagnosed...
Acute lymphoblastic leukemia (ALL) is the most frequent pediatric malignancy. The chemotherapy for ALL associated with a profound secondary immune deficiency.We evaluated number and phenotype of natural killer (NK) cells at diagnosis, after intensive following completion entire treatment patients ALL. fraction, absolute number, percentage NK expressing interferon-γ were determined in full blood samples. fraction CD158a, CD158b, perforin, A, B, K granzymes was examined isolated cells.We have...
Hemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome of life-threatening inflammation caused by an excessive, prolonged and ineffective immune response. An increasing number HLH cases recognized in Poland, but the genetic causes familial (FHL) have not been reported. We investigated molecular genetics associated outcomes pediatric patients who met criteria. studied 54 with HLH, 36 whom received studies. Twenty-five were subjected to direct sequencing PRF1, UNC13D, STX11, XIAP...
Aims. We present the efficacy of a strategy to control infections with hepatitis B (HBV) and C viruses (HCV) in children cancer assessment risk for their relatives health care personnel. A total 1242 people entered study, including 558 cancer, 193 infected children, 302 workers 189 controls. Methods. To stop dual HBV HCV nosocomial infection oncology department, preventive was introduced. It involved immunoprophylaxis against HBV, screening blood donors infection, intensification nonspecific...
The pathogenesis of viral bronchiolitis is poorly understood. aim this study was to analyze interleukin (IL)-15, IL-18 and interferon (IFN)-γ concentrations the activity NK cells CD4+ CD8+ lymphocytes in 23 children not older than 30 months age with acute using blood samples drawn within first 24 h their hospital admission, comparison a healthy group. In bronchiolitis, mean IL-15, IFN-γ were 9.39±11.55, 884.03±645.44 17.92±27.14 pg/ml, respectively, significantly higher those control group...