Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000165
Abstract: Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is… read more here.
Keywords: patients costello; pathogenic variant; polish patients; novel pathogenic ... See more keywords
Genetic associations with lymphomas in Polish patients: A pooled‐DNA genome‐wide association analysis
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Immunogenetics"
DOI: 10.1111/iji.12596
Abstract: Several single nucleotide polymorphisms (SNPs) associated with susceptibility to Hodgkin lymphoma (HL) and diffuse large B‐cell lymphoma (DLBCL) have been identified. The aim of this study was to identify susceptibility loci for HL and DLBCL… read more here.
Keywords: pooled dna; genome wide; wide association; snps ... See more keywords
Serum EBV antibodies and LMP-1 in Polish patients with oropharyngeal and laryngeal cancer
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DOI: 10.1186/s13027-017-0141-x
Abstract: BackgroundThe association between Epstein-Barr virus (EBV) and the development of head and neck cancer was reported by many researchers. The aim of the present study was to detect EBV DNA and EBV antibodies in 110… read more here.
Keywords: ebv; laryngeal cancer; polish patients; oropharyngeal laryngeal ... See more keywords
Comparison of the population of Polish patients participating in the TRANSITION study with the international population: a post-hoc analysis.
Sign Up to like & getrecommendations! Published in 2023 at "Polish archives of internal medicine"
DOI: 10.20452/pamw.16410
Abstract: INTRODUCTION Heart failure patients discharged from the hospital are at high risk of death and rehospitalization. Scarce data are available on the use of sacubitril/valsartan in this population in Poland. OBJECTIVE To compare the efficacy… read more here.
Keywords: sacubitril valsartan; non polish; transition study; polish patients ... See more keywords
2150-PUB: Chemotactic Cytokine Receptor 5 (CCR5) Gene Promoter Polymorphism (rs1799987) Is Associated with the Risk of Diabetic Kidney Disease in Polish Patients with Type 2 Diabetes
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DOI: 10.2337/db20-2150-pub
Abstract: Background and Aims: The environmental risk factors of diabetic kidney disease (DKD) do not allow identification of people at higher risk of it. A lot of expectations are being placed to the genetic predisposition. Among… read more here.
Keywords: dkd; ccr5 gene; polish patients; none ... See more keywords
A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13050733
Abstract: Objectives: Protein C (PC) deficiency is an inherited thrombophilia with a prevalence of 0.5% in the general population and 3% in subjects with a first-time deep vein thrombosis (DVT). Here we report a series of… read more here.
Keywords: series; polish patients; proc gene; splice site ... See more keywords
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
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DOI: 10.3390/genes14050972
Abstract: Background: KIF1A (kinesin family member 1A)-related disorders encompass a variety of diseases. KIF1A variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic neuropathy type 2… read more here.
Keywords: polish patients; knowledge kif1a; kif1a dependent; dependent disorders ... See more keywords
Polish Patients’ Needs and Opinions about the Implementation of Pharmaceutical Care in Diabetes
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DOI: 10.3390/ijerph20020945
Abstract: The study aimed to get to know patients’ opinions on implementing pharmaceutical care for diabetic patients in a community pharmacy to prevent and effectively and holistically approach the treatment of people with diabetes. It was… read more here.
Keywords: pharmaceutical care; care diabetes; polish patients; care ... See more keywords
Key genetic variants in the renin-angiotensin system and left ventricular mass in a cohort of Polish patients with heart failure.
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DOI: 10.33963/kp.15989
Abstract: BACKGROUND Heart failure (HF) is a complex disease that is under the control of different physiological systems. Left ventricular mass (LVM) is a strong predictor of HF. The renin-angiotensin system (RAS) may contribute to the… read more here.
Keywords: genetic variants; polish patients; ventricular mass; angiotensin ... See more keywords