Dorota Wicher
A5030003838- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Pediatric Hepatobiliary Diseases and Treatments
- Genetic Syndromes and Imprinting
- Congenital heart defects research
- Liver Disease Diagnosis and Treatment
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Blood disorders and treatments
- Neonatal Respiratory Health Research
- Cell Adhesion Molecules Research
- Intellectual Property Rights and Media
- Renal Diseases and Glomerulopathies
- Immunodeficiency and Autoimmune Disorders
- Ubiquitin and proteasome pathways
- Parathyroid Disorders and Treatments
- Assisted Reproductive Technology and Twin Pregnancy
- Liver Disease and Transplantation
- Biomedical Research and Pathophysiology
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Monoclonal and Polyclonal Antibodies Research
- Cancer-related gene regulation
- Genomic variations and chromosomal abnormalities
- Peptidase Inhibition and Analysis
Children's Memorial Health Institute
2015-2025
Instytut Matki i Dziecka
2016
Background: Alport syndrome (AS) is a clinically and genetically heterogeneous glomerulopathy resulting from pathogenic variants in COL4A3, COL4A4, COL4A5. Genetic diagnosis increasingly being conducted using next-generation sequencing (NGS). Methods: Within eight years, we examined group of 247 Polish individuals found total 138 unrelated probands suspected with AS based on clinical course, laboratory findings, and/or family history, as well the 109 members. We applied targeted NGS panel to...
Abstract Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients early diagnosis reaches adulthood and some are not diagnosed until adulthood. Yet, clinical knowledge about adult ARPKD scarce. Here, we describe forty-nine longitudinal follow-up into young that were identified in the international cohort study ARegPKD. Forty-five evaluated cross-sectional analysis at mean age 21.4...
Autosomal recessive polycystic kidney disease (ARPKD) is a rare but frequently severe disorder that typically characterized by cystic kidneys and congenital hepatic fibrosis displays pronounced phenotypic heterogeneity. ARPKD among the most important causes for pediatric end stage renal leading reason liver-, kidney- or combined liver transplantation in childhood. The underlying pathophysiology, mechanisms resulting observed clinical heterogeneity long-term evolution of patients remain...
Background: Left ventricular noncompaction (LVNC) is a genetically and phenotypically heterogeneous cardiomyopathy in which myocardium consists of two, distinct compacted noncompacted layers, prominent trabeculations deep intertrabecular recesses are present. LVNC associated with an increased risk heart failure, atrial arrhythmias thromboembolic events. Familial forms primary sinus bradycardia have been attributed to alterations HCN4. There very few reports about the association between HCN4...
Background: Left ventricular noncompaction cardiomyopathy (LVNC) is a rare cardiac disorder characterised by the presence of two-layer myocardium with prominent trabeculation, intertrabecular deep depressions and an increased risk heart failure, atrial arrhythmias systemic thromboembolic events in affected patients. The heterogeneous molecular aetiology solved 10%–50% patients more frequently involves sarcomeric, cytoskeletal or ion channel protein dysfunction—mainly related to causative...
Introduction: Congenital hepatic fibrosis (CHF) is invariably present in all patients with autosomal recessive polycystic kidney disease (ARPKD) but usually clinically asymptomatic. The portal hypertension the course of CHF develops and progresses over time, so an early detection liver remains crucial. Aim: aim study was to evaluate a predictive value transient elastography for evaluating progress pediatric ARPKD patients. Material Methods: group encompassed 21 20 healthy children (control...
De novo balanced chromosomal aberrations (BCAs), such as reciprocal translocations and inversions, are genomic that, in approximately 25% of cases, affect the human phenotype. Delineation exact structure BCAs may provide a precise diagnosis and/or point to new disease loci. We report on six patients with de (BCTs) one patient inversion, whom we mapped breakpoints resolution 1 bp, using shallow whole-genome mate pair sequencing. In all seven disruption at least gene was found. two patients,...
Cohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the VPS13B/COH1 gene. It characterized variable clinical symptoms such as deformity of head, face, hands and feet, eye abnormalities, abdominal obesity, neutropenia nonprogressive intellectual disability. The typical lesions eyeball include high myopia, retinal dystrophy, strabismus, maculopathy lens subluxation. present study describes coexistence bilateral macular edema...
Purpose: Liver involvement in autosomal recessive polycystic kidney disease (ARPKD) leads to the development of portal hypertension and its complications. The aim this study was analyze occurrence clinical course dynamics patients with molecularly confirmed ARPKD a large Polish center. Moreover, available options diagnostics, prevention management will be discussed. Materials Methods: group consisted 17 aged 2.5-42 years. All had diagnosis by molecular tests. Retrospective analysis included...
ABSTRACT Autophagy is a fundamental and evolutionary conserved biological pathway with vital roles in intracellular quality control homeostasis. The process of autophagy involves the engulfment targets by autophagosomes their delivery to lysosome for digestion recycling. We have previously reported recessive variants EPG5 , encoding ectopic P-granules 5 protein crucial role autophagosome-lysosome fusion, as cause Vici syndrome (VS), severe multisystem neurodevelopmental disorder defined...
Congenital hepatic fibrosis constitutes a ductal plate malformation of the small interlobular bile ducts resulting in progressive liver. Isolated form disease is rare, most commonly accompanied by other entities comprising group fibropolycystic diseases. Clinical presentation congenital variable and nonspecific, making initial diagnosis difficult. Besides its invasiveness, liver biopsy still considered as gold standard diagnostic process. We report an undescribed so far coexistence proven...
ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Wicher D, Jurkiewicz E, Jankowska I. Abnormalities of the biliary tract in patients with autosomal recessive polycystic kidney disease (ARPKD). Pediatria Polska - Polish Journal Paediatrics. 2020;95(4):207-211. doi:10.5114/polp.2020.103463. APA Wicher, D., Jurkiewicz, E., & Jankowska, (2020). Paediatrics, 95(4), 207-211. https://doi.org/10.5114/polp.2020.103463 Chicago Dorota, Elżbieta and Irena Jankowska....