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Borowiec M.,Medical University of Lodz | Fendler W.,Medical University of Lodz | Dusatkova P.,Charles University | Antosik K.,Medical University of Lodz | And 6 more authors.
Diabetic Medicine | Year: 2012

Aims Genetic variation at the rs560887 locus of the glucose-6-phosphatase, catalytic2 gene (G6PC2) is known to affect regulation of fasting glycaemia. We determined the rs560887 genotype of patients with monogenic diabetes and glucokinase gene mutations (GCK-MODY) and correlated the genotypes with HbA1c levels. Methods Patients from families with GCK-MODY were recruited from two large cohorts from Poland (n=128) and the Czech Republic (n=154). Genotypes at the rs560887 polymorphic site in G6PC2 were examined using real-time quantitative polymerase chain reaction. The effect of rs560887 genotype on age at diagnosis of GCK-MODY and initial HbA1c levels were evaluated separately within both cohorts. Following that, a meta-analysis of rs560887 genotype-HbA1c associations of both Polish and Czech cohorts was performed to confirm homogeneity of findings and validate cohort-specific results. Results GG homozygosity at rs560887 was associated with marginally elevated HbA1c levels (P=0.07 in both cohorts). The effects observed in both groups were very homogeneous (Q=0.18; P=0.68). Meta-analysis showed that GG homozygosity at rs560887 was associated with mean HbA1c levels higher by 2.4mmol/mol (0.24%), 95%CI 0.5-4.4mmol/mol (0.05-0.44%) than in individuals with other genotypes. Additionally, meta-analysis of both cohorts showed that GG homozygous individuals had higher odds of reaching the 48mmol/mol (6.5%) diagnostic threshold of diabetes; (odds ratio 1.90; 95%CI 1.07-3.36; P=0.03). No such effects were observed for age at diagnosis of diabetes. Conclusions Variation at the rs560887 locus of G6PC2 is associated with worse glycated haemoglobin levels in individuals with GCK mutations; GG homozygotes are more likely to meet diagnostic criteria for diabetes based on HbA1c level. © 2012 The Authors. Diabetic Medicine © 2012 Diabetes UK. Source

Morawiec B.,University of Lausanne | Morawiec B.,Silesian Medical University of Katowice | Muller O.,University of Lausanne | Khatchatourov G.,Clinique Cecil | Goy J.-J.,Cantonal Hospital
EuroIntervention | Year: 2016

Background: Coronary artery fistula (CAF) is a very rare clinical finding in itself. Here we report a case of a CAF complicated with myocarditis and discuss the diagnostic and therapeutic challenges. INVESTIGATION: Clinical evaluation, laboratory tests, blood culture, coronary angiogram, cardiac computed tomography (CT), cardiac magnetic resonance (CMR), positron emission tomography (PET) CT scan (PET/CT). DIAGNOSIS: Myocardial infarction in the setting of CAF caused by a possibly infected thrombus migrated downstream to the inferoseptal cavity followed by myocarditis. MANAGEMENT: Medical pre-treatment (dual antiplatelet therapy, antibiotics), surgical treatment (resection of the CAF and coronary artery bypass grafting). © 2016 Europa Digital & Publishing. All rights reserved. Source

Blood and its components are valuable medication that should be administered according to recommendation after consideration of expected benefits and adverse reactions to the patient. The aim of study was to analyze amount and form of blood components or whole blood transfused at gynecological-obstetrical wars of university hospital (UH) or regional hospital (RH). Age of the patients and clinical diagnosis were included into the analysis. Material and methods. Two gynecological-obstetrical wards were investigated. The appropriate data were obtained from the hospital documentation (there was no electronic data system). Amount and form of transfused blood components or whole blood, diagnosis at admission, patient's age and number of the treated patients were collected from the hospital transfusion book. The final clinical diagnosis, age of the patient, and transfusion details were obtained from the patient's medical records. The diagnoses were presented according to the ICD-10 classification. UHpatients (29,759 patients) and 13,540 patients from RH from 1996 to 2002 were investigated. Results. Blood and its components were used for transfusion in 1150 women (3.8%) treated in UH, and in 206 women (1.5%) hospitalized in RH. In years 1996-2002, there were transfused 2746 units of blood and its components, including: 371 units of whole blood (13.5%), 2073 units of red blood cells (75.5%), 281 units of fresh frozen plasma (10.2%) and 21 units of therapeutic platelet concentrate (0.8%) in RH there were transfused 527 units of blood and its components, including: 8 units of whole blood (1.5%), 450 units of red blood cells (85.4%), 63 units of fresh frozen plasma (12%), and 6 units of therapeutic platelet concentrate (1.1%). The age of patients in UH was between 14 and 92 years and in RH between 18 and 79 years. Conclusions. The rate of patients with the same diagnosis in whom the transfusion was made, was higher in University Hospital. There were no differences between the number of transfused blood and its components between the two hospitals. The age of patients who had blood transfusion was higher for the University Hospital. Introduction of payment for blood and its components, resulted in decrease in percentage of the patients receiving transfusion as seen in comparison of the period 1999-2002 and 1996-1998 in both investigated hospital. The PRBC transfusion average rate units, increased in the period 1999-2002, compared to the 1996-1998. Presented method of analysis of use of blood and its components may reveal new aspects of the problem and may be helpful for planning of blood donation. Source

Zmyslowska A.,Medical University of Lodz | Borowiec M.,Medical University of Lodz | Fendler W.,Medical University of Lodz | Jarosz-Chobot P.,Silesian Medical University of Katowice | And 3 more authors.
Endokrynologia Polska | Year: 2014

Introduction: Wolfram syndrome (WFS) is the most frequent syndromic form of monogenic diabetes coexisting with optic atrophy and many other disorders. The aim of this study was to estimate the prevalence of Wolfram syndrome among children with diabetes in Poland. Material and methods: These calculations were performed among Polish diabetic children, aged 0-18 years, from three administrative regions between January 2005 and December 2011. Epidemiological data was obtained by matching the results from the EURO-WABB-Poland Project and the PolPeDiab Registry. Results: Throughout the study period, we confirmed genetic diagnosis of Wolfram syndrome in 13 patients from Poland. Three patients originated from the studied regions with complete epidemiological data on paediatric diabetes. The total number of patients with diagnosed diabetes in the study equalled 2,568 cases. The prevalence of Wolfram syndrome among Polish children with diabetes is 0.12% (95% Confidence Interval 0.04-0.34%). Conclusions: We estimate that Wolfram syndrome is 26 to 35 times less frequent than monogenic diabetes (MODY and neonatal diabetes) in the Polish paediatric population. Source

Fendler W.,Medical University of Lodz | Borowiec M.,Medical University of Lodz | Antosik K.,Medical University of Lodz | Szadkowska A.,Medical University of Lodz | And 8 more authors.
Clinical Endocrinology | Year: 2011

Introduction Confirmation of monogenic diabetes caused by glucokinase mutations (GCK-MODY) allows pharmacogenetic intervention in the form of insulin discontinuation. This is especially important among paediatric and young adult populations where GCK-MODY is most prevalent. Methods The study evaluated the utility of lipid parameters in screening for patients with GCK-MODY. Eighty-nine children with type 1 diabetes and 68 with GCK-MODY were screened for triglyceride (TG), total and HDL cholesterol levels. Standardization against a control group of 171 healthy children was applied to eliminate the effect of development. Clinical applicability and cut-off value were evaluated in all available patients with GCK-MODY (n = 148), hepatocyte nuclear factor 1-alpha-MODY (HNF1A MODY) (n = 37) or type 1 diabetes (n = 221). Results Lower lipid parameter values were observed in GCK-MODY than in patients with type 1 diabetes. Standard deviation scores were -0·22 ± 2·24 vs 1·31 ± 2·17 for HDL cholesterol (P < 0·001), -0·16 ± 2·14 vs 0·60 ± 1·77 for total cholesterol (P = 0·03) and -0·57 ± 0·97 vs-0·22 ± 0·97 for TG (P = 0·05). Validation analysis confirmed that HDL cholesterol was the best parameter for GCK-MODY selection [sensitivity 87%, specificity 54%, negative predictive value (NPV) 86%, positive PV 56%]. A threshold HDL concentration of 1·56 mm offered significantly better diagnostic efficiency than total cholesterol (cut-off value 4·51 mm; NPV 80%; PPV 38%; P < 0·001). TG did not offer a meaningful cut-off value. Conclusions HDL cholesterol levels measured in individuals with likely monogenic diabetes may be useful in screening for GCK-MODY and differentiation from T1DM and HNF1A-MODY, regardless of treatment or metabolic control. © 2011 Blackwell Publishing Ltd. Source

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