A5054072132- Lipoproteins and Cardiovascular Health
- Cancer, Lipids, and Metabolism
- Protein Tyrosine Phosphatases
- Lipid metabolism and disorders
- Mast cells and histamine
- Neurofibromatosis and Schwannoma Cases
- Genetic factors in colorectal cancer
- Cardiac, Anesthesia and Surgical Outcomes
- BRCA gene mutations in cancer
- Health Systems, Economic Evaluations, Quality of Life
- Enterobacteriaceae and Cronobacter Research
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Cholesterol and Lipid Metabolism
- Respiratory Support and Mechanisms
- Pharmaceutical Economics and Policy
- Atherosclerosis and Cardiovascular Diseases
- Coronary Interventions and Diagnostics
- Probiotics and Fermented Foods
- Cardiovascular Health and Disease Prevention
- GDF15 and Related Biomarkers
- Soft tissue tumor case studies
- Alzheimer's disease research and treatments
- Intensive Care Unit Cognitive Disorders
- Neurogenetic and Muscular Disorders Research
- Nutrition, Genetics, and Disease
Gdańsk Medical University
2014-2023
University Clinical Centre
2018-2023
European Atherosclerosis Society
2021
KU Leuven
2006-2013
Loss-of-function germline mutations in the fumarase (FH) gene of Krebs cycle characterize hereditary leiomyomatosis and renal cell cancer syndrome. Fumarase deficiency can be diagnosed by loss immunohistochemical expression. In this study, we investigated occurrence clinicopathologic features FH-deficient uterine smooth muscle tumors (SMTs). A total 1583 157 nonuterine SMTs were examined using a polyclonal FH antibody automated immunohistochemistry, 86 leiomyomas with an identified. The...
Constitutional mismatch repair deficiency (CMMR‐D) due to biallelic germline mutations in one of four genes causes a childhood cancer syndrome characterized by broad tumor spectrum including hematological malignancies, and brain Lynch syndrome‐associated tumors. Herein, we report three children who had addition CMMR‐D‐associated malignancies multiple pilomatricomas. These are benign skin tumors hair matrical differentiation frequently associated with somatic activating the ß‐catenin gene...
Abstract Neurofibromatosis type I (NF1) is an autosomal dominant familial tumor syndrome characterized by the presence of multiple benign neurofibromas. In 95% NF1 individuals, a mutation found in NF 1 gene, and 5% patients, germline consists microdeletion that includes gene several flanking genes. We studied frequency loss heterozygosity (LOH) region as mechanism somatic inactivation neurofibromas from patients with without microdeletion. There was statistically significant difference...
Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties. It is caused germline loss-of-function SPRED1 mutations member of the RAS-MAPK pathway syndromes. Most result in truncated protein only few inactivating missense have been reported. Since limited number patients has reported up until now, full clinical mutational spectrum still unknown. We report...
Costello syndrome is a mental retardation characterized by high birth weight, postnatal growth retardation, coarse face, loose skin, cardiovascular problems, and tumor predisposition. De novo heterozygous missense mutations in HRAS codon 12 13 disturbing the intrinsic GTP hydrolysis cause syndrome. We report patient with typical novel mutation 117 (c.350A>G, p.Lys117Arg) of gene, resulting constitutive activation RAS/MAPK pathway similar to p.Gly12Ser p.Gly12Ala mutations. Recombinant...
There is increasing evidence that genetic variability influence patients’ early morbidity after cardiac surgery performed using cardiopulmonary bypass (CPB). The use of mortality as an outcome measure in surgical association studies rare. We publish the 30-day and 5-year survival analyses with focus on pre-, intra-, postoperative variables, biochemical parameters, variants INFLACOR (INFlAmmation Cardiac OpeRations) cohort.In a series prospectively recruited 518 adult Polish Caucasians who...
Over the past two decades, APOE gene and its polymorphisms have been among most studied risk factors of Alzheimer disease (AD) development; yet, there are discrepancies between various studies regarding their impact. For this reason, evaluation genotype has not included in current European Federation Neurological Societies guidelines for AD diagnosis management. This aim study was to add discussion by assessing possible influence multiple promoter region genotypes allele E on dementia.We...
The aim of this study was to compare coronary calcium scores and aortic between patients with severe hypercholesterolemia having a DNA-based diagnosis FH (FH group) versus without the gene mutation (NFH group).A total 89 50 NFH underwent CT thoracic aorta scoring. Their CCS TCS in ascending (TCSasc) descending (TCSdesc) were determined compared two patient groups.TCSasc significantly higher group when (30.6± 59 vs 4.7±13.4, p＜0.001. After adjusting for age, sex, smoking, blood pressure,...
Abstract While the life expectancy of population has increased, Alzheimer’s disease (AD) emerged as one greatest health problems old age. AD is characterized by neuronal loss and cognitive decline. In brain, there a decrease in levels acetylcholinesterase (AChE) an increase related enzyme butyrylcholinesterase (BChE), that accumulate plaques tangles. Apolipoprotein E (ApoE) major cholesterol carrier plays important role maintaining lipid homeostasis. APOE -ε4 constitutes most known genetic...
Background: The monogenic defect in familial hypercholesterolemia (FH) is detected ∼40% of cases. majority mutation-negative patients have a polygenic cause high LDL-cholesterol (LDL-C). We sought to investigate whether the underlying or associated with response rosuvastatin. Methods: FH Individuals were tested for mutations LDLR and APOB genes. A previously established LDL-C-specific risk score (PRS) was used examine possibility patients. All received rosuvastatin they followed 8 ± 2...
Background: The carotid intima–media thickness (IMT) measurement may be carried out proximally (pIMT) or distally (dIMT) in relation to the bulb of common artery which has significant implications on results and correlation with risk factors. aim study was compare pIMT dIMT patients familial hypercholesterolemia confirmed by genetic testing (FH group) severe non-familial hypercholesterolemia, negative (NFH determine traditional atherosclerotic factors calcium scores. Methods: A total 86 FH...
Background: Severe familial hypercholesterolemia (FH) individuals, refractory to conventional lipidlowering medications are at exceptionally high risk of cardiovascular events. The established therapeutic option last choice is lipoprotein apheresis (LA). Herein, it was sought investigate the clinical usefulness LA in a highly selected group severe heterozygous FH (HeFH), as recently described by International Atherosclerosis Society (IAS), for their efficacy lipid reduction and safety....
Endothelial dysfunction is one of the markers atherosclerosis.The aim study was to evaluate endothelial function by assessing flow-mediated dilation (FMD) and measure parameters brachial arterial stiffness in patients with familial hypercholesterolemia (FH) those high low-density lipoprotein (LDL) cholesterol levels without FH mutations (nonfamilial - non-FH).The involved 60 (mean age, 41.9 ±7.7 y) documented cardiovascular events clinical symptoms diseases: 21 elevated plasma LDL...
Familial hypercholesterolemia (FH) is an autosomal-dominant disorder caused mainly by substitutions in the low-density lipoprotein receptor (LDLR) gene, leading to increased risk of premature cardiovascular diseases. Tremendous advances sequencing techniques have resulted discovery more than 3000 variants LDLR but not all them are clinically relevant. Therefore, functional studies selected needed for their proper classification. Here, a single-cell, kinetic, fluorescent LDL uptake assay was...
We aimed to compare the extent of subclinical atherosclerosis in ascending and descending aortas by measuring wall area thickness using 3D cardiovascular magnetic resonance imaging (aAWAI dAWAI) patients with asymptomatic familial hypercholesterolemia (FH) nonfamilial (NFH). also establish interrelations CMR parameters other measurements, such as calcium scores, obtained computed tomography coronary arteries (CCS) aorta (TCSasc TCSdsc), well carotid intima-media thicknesses (cIMT)...
The aim of this study was a comparison aortic valve calcium score (AVCS) between patients with hypercholesterolemia and genetic diagnosis familial low-density lipoprotein receptor gene mutation (LDLR-M group), versus without LDLR (LDLR-WT group). A total 72 LDLR-M 50 LDLR-WT were enrolled in the underwent CT as part an assessment coronary scoring. AVCS determined compared two patient groups. significantly higher group to (13.8 ± 37.9 vs. 0.94 3.1, p = 0.03). Yates' chi-squared test for...
In Poland, treatment with proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors has become available free of charge in a therapeutic program. Assessed herein, is the efficacy and safety alirocumab evolocumab patients heterozygous familial hypercholesterolemia (FH).Data 55 adult FH who participated program were analyzed upon meeting criteria established by Ministry Health (low density lipoprotein cholesterol [LDL-C] above 160 mg/dL on max. tolerated statin dose ezetimib). The PCSK9...
Abstract Background The underlying monogenic defect in familial hypercholesterolemia (FH) can be detected ∼40% of cases. majority mutation-negative patients have a polygenic cause high LDL-cholesterol (LDL-C) due to having inherited greater than average number common LDL-C raising single nucleotide polymorphisms (SNPs). Purpose We sought investigate, whether the or FH is associated with response rosuvastatin. Methods Individuals clinical diagnosis were tested for mutations LDLR and APOB...