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1.
Prz Gastroenterol ; 18(1): 1-42, 2023.
Article in English | MEDLINE | ID: mdl-37007752

ABSTRACT

This paper is an update of the diagnostic and therapeutic recommendations of the National Consultant for Gastroenterology and the Polish Society of Gastroenterology from 2013. It contains 49 recommendations for the diagnosis and treatment, both pharmacological and surgical, of ulcerative colitis in adults. The guidelines were developed by a group of experts appointed by the Polish Society of Gastroenterology and the National Consultant in the field of Gastroenterology. The methodology related to the GRADE methodology was used to assess the quality of available evidence and the strength of therapeutic recommendations. The degree of expert support for the proposed statements was assessed on a 6-point Likert scale. Voting results, together with comments, are included with each statement.

2.
Prz Gastroenterol ; 16(4): 257-296, 2021.
Article in English | MEDLINE | ID: mdl-34976235

ABSTRACT

This paper is an update of the diagnostic and therapeutic recommendations of the National Consultant for Gastroenterology and the Polish Society of Gastroenterology from 2012. It contains 46 recommendations for the diagnosis and treatment, both pharmacological and surgical, of Crohn's disease in adults. The guidelines were developed by a group of experts appointed by the Polish Society of Gastroenterology and the National Consultant in the field of Gastroenterology. The methodology related to the GRADE methodology was used to assess the quality and strength of the available recommendations. The degree of expert support for the proposed statement, assessment of the quality of evidence and the strength of the recommendation was assessed on a 6-point Likert scale. Voting results, quality and strength ratings with comments are included with each statement.

3.
Eur J Hum Genet ; 24(8): 1228-31, 2016 08.
Article in English | MEDLINE | ID: mdl-26733285

ABSTRACT

Idiopathic achalasia is a severe motility disorder of the esophagus and is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. Most recently, we identified an eight-amino-acid insertion in the cytoplasmic tail of HLA-DQß1 as strong achalasia risk factor in a sample set from Central Europe, Italy and Spain. Here, we tested whether the HLA-DQß1 insertion also confers achalasia risk in the Polish and Swedish population. We could replicate the initial findings and the insertion shows strong achalasia association in both samples (Poland P=1.84 × 10(-04), Sweden P=7.44 × 10(-05)). Combining all five European data sets - Central Europe, Italy, Spain, Poland and Sweden - the insertion is achalasia associated with Pcombined=1.67 × 10(-35). In addition, we observe that the frequency of the insertion shows a geospatial north-south gradient. The insertion is less common in northern (around 6-7% in patients and 2% in controls from Sweden and Poland) compared with southern Europeans (~16% in patients and 8% in controls from Italy) and shows a stronger attributable risk in the southern European population. Our study provides evidence that the prevalence of achalasia may differ between populations.


Subject(s)
Esophageal Achalasia/genetics , HLA-DQ beta-Chains/genetics , Mutagenesis, Insertional , Esophageal Achalasia/epidemiology , Esophageal Achalasia/ethnology , Europe , Female , Humans , Male , Mutation Rate , Polymorphism, Genetic , Prevalence , White People/genetics
4.
Arterioscler Thromb Vasc Biol ; 29(9): 1316-21, 2009 Sep.
Article in English | MEDLINE | ID: mdl-19667113

ABSTRACT

OBJECTIVE: A rare mutation in low-density lipoprotein receptor-related protein 6 gene (LRP6) was identified as the primary molecular defect underlying monogenic form of coronary artery disease. We hypothesized that common variants in LRP6 could predispose subjects to elevated LDL-cholesterol (LDL-C). METHODS AND RESULTS: Twelve common (minor allele frequency > or =0.1) single nucleotide polymorphisms in LRP6 were genotyped in 703 individuals from 213 Polish pedigrees (Silesian Cardiovascular Study families). The family-based analysis revealed that the minor allele of rs10845493 clustered with elevated LDL-C in offspring more frequently than expected by chance (P=0.0053). The quantitative analysis restricted to subjects free of lipid-lowering treatment confirmed the association between rs10845493 and age-, sex-, and BMI-adjusted circulating levels of LDL-C in families as well as 2 additional populations - 218 unrelated subjects from Silesian Cardiovascular Study replication panel and 1138 individuals from Young Men Cardiovascular Association cohort (P=0.0268, P=0.0476, and P=0.0472, respectively). In the inverse variance weighted meta-analysis of the 3 populations each extra minor allele copy of rs10845493 was associated with 0.14 mmol/L increase in age-, sex-, and BMI-adjusted LDL-C (SE=0.05, P=0.0038). CONCLUSIONS: Common polymorphism in the gene underlying monogenic form of coronary artery disease impacts on risk of LDL-C elevation.


Subject(s)
Cholesterol, LDL/blood , Coronary Artery Disease/genetics , Dyslipidemias/genetics , LDL-Receptor Related Proteins/genetics , Lipid Metabolism/genetics , Polymorphism, Single Nucleotide , Adult , Coronary Artery Disease/blood , Dyslipidemias/blood , Female , Gene Frequency , Genetic Predisposition to Disease , Humans , LDL-Receptor Related Proteins/blood , Low Density Lipoprotein Receptor-Related Protein-6 , Male , Middle Aged , Monocytes/metabolism , Pedigree , Phenotype , Poland , RNA, Messenger/blood , Up-Regulation , Young Adult
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