Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish populationMaciej T Malecki
Department of Metabolic Diseases, Medical College, Jagiellonian University, 15 Kopernika Street, 31 501 Krakow, Poland
Eur J Endocrinol 146:695-9. 2002
..However, substantial differences were shown between ethnic groups in at risk alleles and haplotypes as well as in their attributable risk. Thus, it is important to determine the role of calpain 10 in various populations...
Altered fibrin-clot properties are associated with retinopathy in type 2 diabetes mellitusM Walus-Miarka
Department of Metabolic Diseases, Jagiellonian University Medical College, 15 Kopernika Street, 21 501, Krakow, Poland Department of Medical Education, Jagiellonian University Medical College, Krakow, Poland Electronic address
Diabetes Metab 38:462-5. 2012
..As the formation of dense fibrin clots resistant to lysis has been described in diabetes patients, this study tested the hypothesis that altered clot structure and function are associated with DR in T2DM patients...
- Can geneticists help clinicians to understand and treat non-autoimmune diabetes?
Maciej T Malecki
Department of Metabolic Diseases, Jagiellonian University, Medical College, 15 Kopernika Street, 31 501 Krakow, Poland
Diabetes Res Clin Pract 82:S83-93. 2008
..In this review, we present the clinical application of genetic testing in non-autoimmune diabetes, mostly monogenic forms of disease...
- Retinopathy in type 2 diabetes mellitus is associated with increased intima-media thickness and endothelial dysfunction
M T Malecki
Department of Metabolic Diseases, Medical College, Jagiellonian University, Krakow, Poland
Eur J Clin Invest 38:925-30. 2008
..Here we described the search for the association between DR and intima-media thickness (IMT) in T2DM. We also compared endothelial function in subjects with and without DR...
- Alanine variant of the Pro12Ala polymorphism of the PPARgamma gene might be associated with decreased risk of diabetic retinopathy in type 2 diabetes
Maciej T Malecki
Department of Metabolic Diseases, Jagiellonian University Medical College, 15 Kopernika Street, 31 501 Krakow, Poland
Diabetes Res Clin Pract 80:139-45. 2008
..Molecular background of diabetic retinopathy (DR) remains unknown. An interesting group of candidate genes encode proteins involved in insulin resistance...
- Plasma asymmetric dimethylarginine (ADMA) is associated with retinopathy in type 2 diabetes
Maciej T Malecki
Department of Metabolic Diseases, Jagiellonian University, 15 Kopernika St, 31-501 Krakow, Poland
Diabetes Care 30:2899-901. 2007
- Monogenic diabetes: implications for therapy of rare types of disease
Maciej T Malecki
Department of Metabolic Diseases, Medical College, Jagiellonian University, Krakow, Poland
Diabetes Obes Metab 10:607-16. 2008
..In this paper, the aetiology of some monogenic diabetes forms is reviewed together with the clinical aspects of management of the affected individuals...
- Problems in differential diagnosis of diabetes types
Maciej Małecki
Department of Metabolic Diseases, Collegium Medicum Jagiellonian University, Krakow, Poland
Pol Arch Med Wewn 118:435-40. 2008
..In this article, a review of problems associated with the differential diagnostics of diabetes and its practical clinical application was made...
- Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene
Maciej T Malecki
Department of Metabolic Diseases, Jagiellonian University, Medical College, Krakow, Poland
Diabetes Care 28:2774-6. 2005
- The Pro12Ala polymorphism of PPARgamma2 gene and susceptibility to type 2 diabetes mellitus in a Polish population
Maciej T Malecki
Department of Metabolic Diseases, Medical College, Jagiellonian University, 15 Kopernika Street, 31 501 Krakow, Poland
Diabetes Res Clin Pract 62:105-11. 2003
..The Pro12Ala amino acid variant of the PPARgamma2 isoform is associated with T2DM in several populations...
- Vitamin D binding protein gene and genetic susceptibility to type 2 diabetes mellitus in a Polish population
Maciej T Malecki
Department of Metabolic Diseases, Jagiellonian University, Medical College, 15 Kopernika Street, 31 501 Krakow, Poland
Diabetes Res Clin Pract 57:99-104. 2002
..No evidence was found for an association between DBP frequent polymorphisms and T2DM in this population...
- Glycemic control and pregnancy outcomes in women with type 2 diabetes from Poland. The impact of pregnancy planning and a comparison with type 1 diabetes subjects
Katarzyna Cyganek
Department of Metabolic Diseases, Jagiellonian University, Medical College, 15 Kopernika Street, 31 511, Krakow, Poland
Endocrine 40:243-9. 2011
..This could have been the reason for the slightly lower number of macrosomic babies but did not affect other outcomes. In T2DM, pregnancy planning had a beneficial glycemic effect in the first trimester...
- Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up
Tomasz Klupa
Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland
Diabetes Technol Ther 12:387-91. 2010
..The long-term efficacy and safety of SU treatment in PNDM patients, however, have not yet been determined...
- The first case report of sulfonylurea use in a woman with permanent neonatal diabetes mellitus due to KCNJ11 mutation during a high-risk pregnancy
Tomasz Klupa
Department of Metabolic Diseases, Jagiellonian University Medical College, University Hospital, 15 Kopernika Street, 31 501 Krakow, Poland
J Clin Endocrinol Metab 95:3599-604. 2010
..SUs, which seem to constitute an alternative to insulin during pregnancy in Kir6.2-related PNDM, were used during the conception period and most of the second and third trimesters...
- LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype
Tomasz Klupa
Department of Metabolic Diseases, Jagiellonian University, Medical College, 15 Kopernika Street, 31 501 Krakow, Poland
Endocrine 36:518-23. 2009
..A clinical picture related to the LMNA Arg482Gln mutation may be more diversified than it was previously considered and include low BMI and pulmonary fibrosis...
Insulin pump therapy is equally effective and safe in elderly and young type 1 diabetes patientsBartlomiej Matejko
Department of Metabolic Diseases, Jagiellonian University, Medical College, 15 Kopernika Street, 31 501 Krakow, Poland
Rev Diabet Stud 8:254-8. 2011
..We aimed to compare the glycemic control and use of selected pump tools in T1D subjects using CSII over the age of 50 (50+ T1D) with patients younger than 50 years of age...
- Variants of the adiponectin gene and type 2 diabetes in a Polish population
Magdalena Szopa
Department of Metabolic Diseases, Medical College, Jagiellonian University, 15 Kopernika Street, 31 501, Krakow, Poland
Acta Diabetol 46:317-22. 2009
..In addition, in this model, -11.391G>A and +276G>T were independently associated with T2DM. Finally, we conclude that the adiponectin gene polymorphisms are associated with T2DM and prediabetic quantitative traits in Polish Caucasians...
- The dual-wave bolus feature in type 1 diabetes adult users of insulin pumps
Tomasz Klupa
Department of Metabolic Diseases, Jagiellonian University, Medical College, 15 Kopernika Street, Krakow, Poland
Acta Diabetol 48:11-4. 2011
..In conclusion, DWB might be a tool potentially helping to improve glycemic control in T1DM adult users of insulin pumps. Male patients and those with a shorter duration of diabetes seem to use it more willingly...
- Glycemic control and selected pregnancy outcomes in type 1 diabetes women on continuous subcutaneous insulin infusion and multiple daily injections: the significance of pregnancy planning
Katarzyna Cyganek
Department of Metabolic Diseases, Jagiellonian University Medical College, 31 511 Krakow, Poland
Diabetes Technol Ther 12:41-7. 2010
..We assessed their efficacy and safety and the effect of pregnancy planning...
- Clinical application of 1,5-anhydroglucitol measurements in patients with hepatocyte nuclear factor-1alpha maturity-onset diabetes of the young
Jan Skupien
1Department of Metabolic Diseases, Jagiellonian University, Medical College, Krakow, Poland
Diabetes Care 31:1496-501. 2008
..In addition, we aimed to evaluate this particle as a biomarker for HNF-1alpha MODY...
- Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity
Maciej T Malecki
Department of Metabolic Diseases, Jagiellonian University, Medical College, 15 Kopernika St, 31-501 Krakow, Poland
Diabetes Care 30:147-9. 2007
- Monogenic models: what have the single gene disorders taught us?
Tomasz Klupa
Department of Metabolic Diseases, Jagiellonian University, Medical College, 15 Kopernika Street, 31 501, Krakow, Poland
Curr Diab Rep 12:659-66. 2012
..In this review paper, we summarize the impact of single gene disease discoveries on diabetes research and clinical practice...
- The effect of hematocrit on the results of measurements using glucose meters based on different techniques
Bogdan Solnica
Department of Diagnostics, Jagiellonian University Medical College, Krakow, Poland
Clin Chem Lab Med 50:361-5. 2012
..The aim of the study was to evaluate the effect of hematocrit (HCT) on glucose meter assays based on different measurement techniques...
- Evaluation of Apolipoprotein M Serum Concentration as a Biomarker of HNF-1alpha MODY
Jan Skupien
Department and Chair of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland
Rev Diabet Stud 4:231-5. 2007
..In summary, our study showed no association between HNF-1alpha mutations resulting in MODY phenotype and apoM levels. Thus, we cannot confirm the clinical usefulness of apoM as a biomarker of HNF-1alpha MODY...
- Dipeptidyl peptidase-IV inhibitors are efficient adjunct therapy in HNF1A maturity-onset diabetes of the young patients--report of two cases
Barbara Katra
Department of Metabolic Diseases, Jagiellonian University Medical College, 15 Kopernika Street, Krakow, Poland
Diabetes Technol Ther 12:313-6. 2010
..Over time, such therapy fails, and additional treatment is required. Dipeptidyl peptidase IV (DPP-IV) inhibitors are new agents that lower blood glucose by prolonging the activity of circulating incretins...
- Type 2 diabetes mellitus: from genes to disease
Maciej T Malecki
Department of Metabolic Diseases, Jagiellonian University, Medical College, Kopernika 15, PL 31 501, Krakow, Poland
Pharmacol Rep 57:20-32. 2005
..Although major genes for T2DM still await to be discovered, we have probably established a "road map" that we should follow...
- Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype
Tomasz Klupa
Department of Metabolic Diseases, Jagiellonian University, Medical College, Krakow, Poland
Clin Endocrinol (Oxf) 71:358-62. 2009
..We aimed to determine the contribution of ABCC8 gene to ND in Poland, to describe the clinical phenotype associated with its mutations and to examine potential modifying factors...
- Evaluation of the analytical performance of the coulometry-based Optium Omega blood glucose meter
Bogdan Solnica
Department of Diagnostics, Jagiellonian University Medical College, Krakow, Poland
J Diabetes Sci Technol 5:1612-7. 2011
..In this study, an evaluation of the analytical performance of the coulometry-based Optium Omega™ glucose meter designed for SMBG has been carried out...
- Genetics of type 2 diabetes mellitus
Maciej T Malecki
Department of Metabolic Diseases, Medical College, Jagiellonian University, 15 Kopernika Street, 31 501 Krakow, Poland
Diabetes Res Clin Pract 68:S10-21. 2005
..In addition, some evidence exists that genes, such as adiponectin, IRS-1, and some others may also influence the susceptibility to T2DM. It is expected that in the nearest future more T2DM susceptibility genes will be identified...
- Connexin 43 and metabolic effect of fatty acids in stressed endothelial cells
Beata Kiec-Wilk
Department of Clinical Biochemistry, Jagiellonian University Medical College, Krakow, Poland
Genes Nutr 7:257-63. 2012
....
- The CpG island methylation regulated expression of endothelial proangiogenic genes in response to β-carotene and arachidonic acid
Beata Kiec-Wilk
Department of Medical Biochemistry, Jagiellonian University Medical College, Krakow, Poland
Nutr Cancer 63:1053-63. 2011
..However more research is necessary to confirm this hypothesis...
- A2 alelle of GpIIIa gene is a risk factor for stroke caused by large-vessel disease in males
Agnieszka Slowik
Department of Neurology, Jagiellonian University, 31 503 Krakow, Botaniczna 3, Poland
Stroke 35:1589-93. 2004
..We studied the significance of the GpIIIa gene A1/A2 polymorphism in stroke patients with different stroke causes...
- All we need is GWAS: Genome-Wide Association Studies in Type 2 Diabetes Mellitus presented on the 2008 EASD Meeting in Rome
Tomasz Klupa
Department of Metabolic Diseases, Jagiellonian University, Medical College, 15 Kopernika Street, 31 501 Krakow, Poland
Rev Diabet Stud 5:175-9. 2008
..Also, there are the problems of low sensitivity in identifying the signals from relatively rare variants, and the low effectiveness in identifying epistatic gene-gene interactions...
- Islet-specific antibody seroconversion in patients with long duration of permanent neonatal diabetes caused by mutations in the KCNJ11 gene
Agnieszka Gach
Department of Pediatrics, Medical University of Lodz, 38/50 Sporna St, 91-738 Lodz, Poland
Diabetes Care 30:2080-2. 2007
- Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect
Tomasz Klupa
Research Division, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts 02215, USA
Diabetes Care 25:2292-301. 2002
..To determine the distribution of the age at onset of diabetes (maturity-onset diabetes of the young-3 [MODY3]) and to identify determinants of the onset of diabetes in carriers of HNF-1alpha mutations...
- Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses
Takafumi Tsuchiya
Departments of Medicine and Human Genetics, The University of Chicago, 5841 S Maryland Ave, MC1027, Chicago, IL 60637, USA
Mol Genet Metab 89:174-84. 2006
..68 (1.33-2.11), P=0.00001). The pooled and meta-analyses as well as the linkage disequilibrium and haplotype diversity studies suggest a role for genetic variation in CAPN10 affecting risk of T2D in Europeans...
- Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
Ewan R Pearson
Institute of Biomedical and Clinical Sciences, Peninsula Medical School, Exeter, United Kingdom
N Engl J Med 355:467-77. 2006
..ClinicalTrials.gov number, NCT00334711 [ClinicalTrials.gov].)...
- Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11
Wojciech Mlynarski
Department of Pediatrics, Medical University of Lodz, Lodz, Poland
Nat Clin Pract Neurol 3:640-5. 2007
..The patient underwent genetic evaluation at the age of 6 years, prompted by reports that mutations in the KCNJ11 gene caused neonatal diabetes...
