Recent achievements in transcatheter closure of ventricular septal defects: a systematic review of literature and a meta-analysis.

Background: Ventricular septal defect (VSD) is one of the most common congenital heart defects. Currently, surgery remains the treatment of choice. However, transcatheter techniques for closing of various types of VSDs have become an alternative.

Infection profile in children and adolescents with bone marrow failures treated with allogeneic hematopoietic stem cell transplantation.

Background: The objective of the study was to analyze the profile of infections in children with BMF following alloHCT.

Methods: Data of 169 consecutive children with inherited and acquired BMF treated with alloHCT between 2012 and 2017 in Polish pediatric transplant departments were analyzed in registry-based retrospective study, with respect to the type of infection, and clinical outcome.

Results: At least 1 infection was diagnosed in 107/169 patients (60.

Risk Factors for Transplant Outcomes in Children and Adolescents with Non-Malignant Diseases Following Allogeneic Hematopoietic Stem Cell Transplantation.

BACKGROUND The objective of this study was the analysis of transplant outcomes and survival in children treated with allogeneic hematopoietic cell transplantation (alloHCT) for non-malignant disorders, with a focus on risk factor analysis of transplant-related mortality (TRM). MATERIAL AND METHODS The treatment outcome was analyzed retrospectively in 10 consecutive years in 4 pediatric transplant centers in Poland. To compare the outcomes, patient data were analyzed according to the diagnosis, age at transplant, donor type, stem cell source, conditioning regimens, transplanted CD34+ cells dose, and pediatric TRM score.

Peritoneal Dialysis Vintage and Glucose Exposure but Not Peritonitis Episodes Drive Peritoneal Membrane Transformation During the First Years of PD.

The impact of peritoneal dialysis (PD) associated peritonitis on peritoneal membrane integrity is incompletely understood. Children are particularly suited to address this question, since they are largely devoid of preexisting tissue damage and life-style related alterations. Within the International Peritoneal Biobank, 85 standardized parietal peritoneal tissue samples were obtained from 82 children on neutral pH PD fluids with low glucose degradation product (GDP) content.

Quality of life in adults with repaired tetralogy of Fallot.

Introduction: Observations of patients after repair of tetralogy of Fallot (ToF) indicate good correction results and long-term survival. Few papers have been published in which the quality of life (QoL) of this population has been assessed.

Aim: To evaluate QoL in adults with repaired ToF.

Long-Term Effects of Percutaneous Fenestration Following the Fontan Procedure in Adult Patients with Congenital Univentricular Heart.

BACKGROUND The Fontan procedure, performed for univentricular heart, may also include the technique of percutaneous fenestration to create a small atrial septal defect (ASD) and a right-to-left shunt. The aim of this study was to evaluate the long-term effects of fenestration in adult patients who had a Fontan procedure for univentricular heart. MATERIAL AND METHODS Fontan surgery was performed in 39 patients, including 19 (49%) patients with fenestration (Group I), and 20 (51%) patients without the fenestration procedure (Group II).

Imatinib in the treatment of chronic myeloid leukemia in children and adolescents is effective and well tolerated: Report of the Polish Pediatric Study Group for the Treatment of Leukemias and Lymphomas.

Background: Chronic myeloid leukemia (CML) constitutes only 2-3% of all leukemias in pediatric patients. Philapelphia chromosome and BCR-ABL fusion are genetic hallmarks of CML, and their presence is crucial for targeted molecular therapy with tyrosine kinase inhibitors (TKIs), which replaced hematopoietic stem cell transplantation (HSCT) as a standard first-line therapy. The disease in pediatric population is rare, and despite molecular and clinical similarities to CML in adults, different approach is needed, due to the long lifetime expectancy and distinct developmental characteristics of affected children.

Transplant-related mortality and survival in children with malignancies treated with allogeneic hematopoietic stem cell transplantation. A multicenter analysis.

The aim of the study was to assess the risk of TRM in pediatric patients treated for malignant disorders with allogeneic HSCT, according to different risk factors. The treatment outcome was analyzed in 299 pediatric patients treated in pediatric transplant departments from 2006 to 2015. To compare the outcome, patients were analyzed all together and in groups according to the diagnosis, age at transplant, donor type, disease status, stem cell source, and pediatric TRM score.

The relation between plasma α-synuclein level and clinical symptoms or signs of Parkinson's disease.

Introduction: Parkinson disease (PD) is the common neurodegenerative disease. α-Synuclein (ASN), main aggregating protein in neural cells of CNS in PD, was found in peripheral fluids. Testing ASN in plasma is potential test for diagnose PD, but previous studies are controversial.

Incidence of Infectious Complications in Children With Acute Lymphoblastic Leukemia Treated With Hematopoietic Stem Cell Transplantation.

Objective: We analyzed incidence and profile of infections in children with acute lymphoblastic leukemia (ALL) treated with hematopoietic stem cell transplantation (HSCT) in Polish pediatric HSCT departments, over a 2-year period.

Patients And Methods: Hospital records of 67 patients, who underwent allogeneic HSCT for ALL, were analyzed retrospectively for microbiologically documented infection: bacterial infection (BI), viral infection (VI), and fungal infection (FI). The majority of patients (40/67; 59.

[Multiorgan malfunction after Fontan operation in adult patients].

Unlabelled: Although 85% of patients with univentricular heart after Fontan procedure survive twenty years after operation, the procedure alone seems to be an inadequate treatment as a permanent clinical solution. Patients with a "Fontan physiology" additionally have to face a various extra-cardiac complications, including thyroid, liver and kidney dysfunction, which are not only potentially life-threatening, but also can potentiate the circulatory insufficiency.

Aim: The aim of the study was to assess a multiorgan dysfunction in adult patients after Fontan operation in long term follow-up and compare to healthy controls.

Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.

Objective: To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome.

Design, Patients, Measurements: We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.

Phenylketonuria patients' and their parents' knowledge and attitudes to the daily diet - multi-centre study.

Background: The aim of the study was to assess both patients' and their parents' knowledge of phenylketonuria (PKU) treatment and compliance with PKU diet.

Methods: The study included 173 PKU patients aged 10-19 and 110 parents of PKU children who were enrolled in the study on the basis of questionnaire data. The study also included 45 patients aged ≥20.

Evaluation of stomatognathic problems in children with osteogenesis imperfecta (osteogenesis imperfecta - oi) - preliminary study.

Unlabelled: According to epidemiological data, muscular dysfunctions of the masticatory system occur in 15-23% of the population. Preventive examinations of functional disorders of the stomatognathic system are, therefore, of particular importance. A distinct group of patients exposed to dysfunctions in the area of the masticatory organ locomotor apparatus comprises those with genetic diseases characterised by disorders in collagen formation.

Splenic Ly6C monocytes contribute to adverse late post-ischemic left ventricular remodeling in heme oxygenase-1 deficient mice.

Heme oxygenase-1 (Hmox1) is a stress-inducible protein crucial in heme catabolism. The end products of its enzymatic activity possess anti-oxidative, anti-apoptotic and anti-inflammatory properties. Cardioprotective effects of Hmox1 were demonstrated in experimental models of myocardial infarction (MI).

Low hepatitis B virus-specific T-cell response in males correlates with high regulatory T-cell numbers in murine models.

Unlabelled: Hepatitis B virus (HBV) infection shows significant gender-related differences in pathogenesis, disease progression, and development of hepatocellular carcinoma. The gender-associated differences in HBV replication and viral protein levels may be associated with distinct HBV-specific immune responses in the host. In the present study, we examined the impact of gender on HBV-specific immune responses in two different mouse models representing transient and persistent hepadnaviral infection; hydrodynamic injection with the HBV genome mimicked acute HBV infection, whereas the efficacy of therapeutic vaccination was studied in the woodchuck hepatitis virus transgenic mouse model.

Aryl-1,3,5-triazine ligands of histamine H receptor attenuate inflammatory and nociceptive response to carrageen, zymosan and lipopolysaccharide.

Objective And Design: Histamine H receptor (HR) offers a great potential for new therapeutic strategies for the treatment of inflammation-based diseases. The aim of this study is to present the pharmacological profile of two recently synthesized ligands of HR with particular reference to their anti-inflammatory and analgesic activity.

Materials And Subjects: We used mice and rats in the in vivo tests.

Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia.

X-linked agammaglobulinemia (XLA) diagnosed in the first year of life is an immunodeficiency with a life-long indication for substitution of immunoglobulins, due to lack of B lymphocytes in the periphery. The decrease of bacterial infection frequency and severity is an effect of immunoglobulin replacement. However, in the majority of patients bronchiectasis and chronic sinusitis with an overgrown mucous membrane develop despite regular substitution.

Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study.

Purpose: Phenylketonuria (PKU) still poses a therapeutic challenge for patients and medical professionals. The aim of the study was to assess both patients' and their parents' acceptance of the disease.

Methods: The study included 218 PKU patients and 178 parents of PKU children who were enrolled in the study on the basis of questionnaire data.

Comparison of the Degree of Exercise Tolerance in Children After Surgical Treatment of Complex Cardiac Defects, Assessed Using Ergospirometry and the Level of Brain Natriuretic Peptide.

Children who underwent surgery for complex congenital heart defects present worse exercise capacity than their healthy peers. In adults and adolescents, heart failure is assessed on the basis of clinical symptoms using the New York Heart Association (NYHA) score, while in an infant Ross scale; heart failure can also be evaluated by other parameters. The purpose of this study was to compare the degree of exercise tolerance in children after surgery for complex heart defects, assessed by the ratio of maximum oxygen uptake (VO2max) and the brain natriuretic peptide (N-terminal fragment of the prohormone brain-type natriuretic peptide [NT-proBNP]) concentration.

How in vitro influences in silico utilized for the prediction of in vivo - pilot study of the drug-induced pro-arrhythmic potency prediction.

The current drug cardiac safety risk assessment paradigm is about to be changed. The discussed modifications cover clinical as well as pre-clinical sides. As for the latter, the pre-clinical assessment, it is planned to be based on the analysis of the drug-triggered multiple ion currents inhibition.

Assessment of frequency and severity of hypomagnesemia in patients with metastatic colorectal cancer treated with cetuximab, with a review of the literature.

Currently, there are a few systemic treatment options for patients with metastatic colorectal cancer (mCRC). Targeted therapy used in this setting includes the use of monoclonal antibodies, such as cetuximab or panitumumab, directed against epidermal growth factor receptor. The aim of the present study was to estimate the frequency and severity of hypomagnesemia among patients with mCRC treated with cetuximab.

Clock and clock-controlled genes are differently expressed in the retina, lamina and in selected cells of the visual system of Drosophila melanogaster.

The retina and the first optic neuropil (lamina) of Drosophila show circadian rhythms in various processes. To learn about the regulation of circadian rhythms in the retina and lamina and in two cell types, glial and the lamina L2 interneurons, we examined expression of the following clock genes; per, tim, clk, and cry and clock-controlled genes (ccgs); Atpα, nrv2, brp, Pdfr. We found that the expression of gene studied is specific for the retina and lamina.