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1.
Acta Diabetol ; 60(4): 553-561, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36653533

RESUMO

AIMS: The effects of continuous subcutaneous insulin infusion (CSII) therapy with or without continuous glucose monitoring (CGM) on neonatal outcomes and glycemic outcomes of pregnant women with type 1 diabetes (T1D), living in Poland, were assessed. METHODS: This prospective observational study enrolled women with T1D (N = 481, aged 18-45 years) who were pregnant or planned pregnancy. All used CSII therapy and a subset used CGM with CSII (CSII + CGM). Neonatal outcomes (e.g., rate of large for gestational age [LGA] delivery [birth weight > 90th percentile]) and maternal glycemia (e.g., HbA1c and percentage of time at sensor glucose ranges) were evaluated. RESULTS: Overall HbA1c at trimesters 1, 2, and 3 was 6.8 ± 1.1% (50.9 ± 12.3 mmol/mol, N = 354), 5.8 ± 0.7% (40.1 ± 8.0 mmol/mol, N = 318), and 5.9 ± 0.7% (41.4 ± 8.0 mmol/mol, N = 255), respectively. A HbA1c target of < 6.0% (42 mmol/mol) at each trimester was achieved by 20.9% (74/354), 65.1% (207/318), and 58.0% (148/255), respectively. For women using CSII + CGM versus CSII only, HbA1c levels at trimesters 1, 2, and 3 were 6.5 ± 0.9% versus 7.1 ± 1.3% (47.8 ± 9.7 mmol/mol versus 54.3 ± 14.0 mmol/mol, p < 0.0001), 5.7 ± 0.6% versus 6.0 ± 0.9% (38.9 ± 6.5 mmol/mol versus 41.6 ± 9.3 mmol/mol, p = 0.0122), and 5.8 ± 0.6% versus 6.1 ± 0.8% (40.3 ± 6.9 mmol/mol versus 42.9 ± 9.1 mmol/mol, p = 0.0117), respectively. For the overall, CSII only, and CSII + CGM groups, rates of LGA delivery were 22.7% (74/326), 24.6% (34/138), and 21.3% (40/188), respectively. CONCLUSIONS: Observational assessment of women with T1D using CSII therapy demonstrated low HbA1c throughout pregnancy and low rates of LGA. The addition of CGM to CSII therapy compared to CSII therapy alone was associated with some improved maternal glycemic and neonatal outcomes. GOV IDENTIFIER: NCT01779141 (January 2013).


Assuntos
Diabetes Mellitus Tipo 1 , Recém-Nascido , Feminino , Humanos , Gravidez , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Gestantes , Glicemia , Hemoglobinas Glicadas , Automonitorização da Glicemia , Polônia , Insulina , Sistemas de Infusão de Insulina , Aumento de Peso
2.
Clin Endocrinol (Oxf) ; 71(3): 358-62, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19021632

RESUMO

OBJECTIVE: Mutations in the ABCC8 gene encoding the SUR1 subunits of the beta-cell K-ATP channel cause neonatal diabetes (ND) mellitus. 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. PATIENTS: The Nationwide Registry of ND in Poland includes patients diagnosed before 6 months of age. In total 16 Kir6.2 negative patients with ND, 14 permanent and 2 relapsed transient, were examined. MEASUREMENTS: ABCC8 gene mutations were detected by direct sequencing. Mutation carriers' characteristics included clinical data and biochemical parameters. In addition, we performed the hyperinsulinaemic euglycaemic clamp and tested for islet-specific antibodies in diabetic subjects. RESULTS: We identified two probands with permanent ND (one heterozygous F132V mutation carrier and one compound heterozygote with N23H and R826W mutations) and two others with relapsed transient ND (heterozygotes for R826W and V86A substitutions, respectively). One subject, a heterozygous relative with the R826W mutation, had adult onset diabetes. There were striking differences in the clinical picture of the mutation carriers as the carrier of two mutations, N23H and R826W, was controlled on diet alone with HbA(1c) of 7.3%, whereas the F132V mutation carrier was on 0.66 IU/kg/day of insulin with HbA(1c) of 11.7%. The C-peptide level varied from 0.1 ng/ml (F132V) to 0.75 ng/ml (V86A). We also observed a variable insulin resistance, from moderate (M = 5.5 and 5.6 mg/kg/min, respectively, in the two R826W mutation carriers) to severe (M = 2.6 mg/kg/min in the F132V mutation carrier). We were able to transfer two patients off insulin to sulphonylurea (SU) and to reduce insulin dose in one other patient. Interestingly, there was no response to SU in the most insulin resistant F132V mutation carrier despite high dose of glibenclamide. All examined auto-antibodies were present in one of the subjects, the V86A mutation carrier, although this did not seem to influence the clinical picture, as we were able to transfer this girl off insulin. CONCLUSION: Mutations in SUR1 are the cause of about 15% of Kir6.2 negative permanent ND in Poland. The clinical phenotype of SUR1 diabetic mutation carriers is heterogeneous and it appears to be modified by variable sensitivity to insulin.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Diabetes Mellitus/genética , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética , Receptores de Droga/genética , Adolescente , Criança , Feminino , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Polônia , Receptores de Sulfonilureias
3.
Diabetes Technol Ther ; 10(1): 46-9, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18275362

RESUMO

Cystic fibrosis-related diabetes (CFRD) is a frequent complication of cystic fibrosis. We report the significant improvement of diabetes control and quality of life in a CFRD patient using the sensor-augmented insulin pump. The system gives the patient the highest degree of flexibility, which is required in CFRD since food intake and activity levels vary widely from day to day, depending on the rapid changes of health status.


Assuntos
Fibrose Cística/complicações , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hipoglicemiantes/administração & dosagem , Sistemas de Infusão de Insulina , Insulina/administração & dosagem , Adulto , Fibrose Cística/sangue , Diabetes Mellitus Tipo 1/sangue , Feminino , Humanos , Hiperglicemia/prevenção & controle , Hipoglicemia/prevenção & controle , Bombas de Infusão Implantáveis
4.
Diabetes ; 55(9): 2626-30, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16936213

RESUMO

The K121Q polymorphism in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) is associated with type 2 diabetes and obesity. The possibility of other ENPP1 polymorphisms influencing these phenotypes has received little attention. Our aim was to examine the associations of tagging single nucleotide polymorphisms (SNPs) and haplotypes of the linkage disequilibrium (LD) block containing K121Q polymorphism with type 2 diabetes in a Polish population, controlling for any effect of obesity. We genotyped 426 type 2 diabetic case and 370 control subjects for seven SNPs in ENPP1. In the total group, neither type 2 diabetes nor obesity was significantly associated with any SNP. However, in obese subjects, two SNPs were significantly associated with type 2 diabetes: the Q allele of K121Q (odds ratio 1.6 [95% CI 1.003-2.6]) and T allele of rs997509 (4.7 [1.6-13.9]). In the LD block, four SNPs plus the K121Q polymorphism distinguished six haplotypes, three of which carried the Q allele. Interestingly, the T allele of rs997509 sufficed to distinguish a 121Q-carrying haplotype that was significantly more associated with type 2 diabetes than the other two (4.2 [1.3-13.5]). These other two 121Q-carrying haplotypes were not associated with type 2 diabetes. In conclusion, we found a new SNP, rs997509, in intron 1 that is strongly associated with risk of type 2 diabetes in obese individuals. The molecular mechanisms underlying this association are unknown.


Assuntos
Diabetes Mellitus Tipo 2/genética , Obesidade/genética , Diester Fosfórico Hidrolases/genética , Polimorfismo de Nucleotídeo Único , Pirofosfatases/genética , Adulto , Idoso , Feminino , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/complicações , Polônia , Risco
5.
Przegl Lek ; 64(6): 398-400, 2007.
Artigo em Polonês | MEDLINE | ID: mdl-18159846

RESUMO

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive potassium-channel subunit of Kir6.2 result in the phenotype of permanent neonatal diabetes (PNDM). Patients with PNDM can be successfully transferred from insulin to sulphonylurea. It is not clear, however, whether the type of diet may play a role in the metabolic control in PNDM patients. This report describes two cases of patients with PNDM due to the R201H mutation coming from the Polish Nationwide Registry of PNDM treated with the same sulphonylurea (glipizide GITS). In one of them, diet was practically free (Pol1), the other one (Pol2) avoided high glycemic-index products. Both mutation carriers were submitted to a 72 h continuous glucose monitoring system (CGMS) (Medtronic, CA). Before the CGMS record, families were encouraged not to alter their usual pattern of food intake during recording periods and to use food diaries. The postprandial glycemia in Poll reached the maximal level of 9.5 mmo/l, 5 episodes of glycemia above 8.0 mmol/l lasting overall for about 6 hours followed the ingestion of high-glycemic-index (>70) meals. Patient Pol2 did not use high-glycaemic-index-products and his postprandial blood glucose did not exceed 7.0 mmol/l. Following the CGMS record, an additional diet-oriented educational session with patient Poll and his parents was performed, Poll declared to avoid the intake of high-glycemic-index products. He remained on the same dose of Glipizide GITS. Results of home blood glucose monitoring performed 2 months later showed normoglycemia. We conclude that to achieve normoglycemia, patients with PNDM who are on sulphonylurea should refrain from eating high glycemic-index products.


Assuntos
Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/genética , Índice Glicêmico , Mutação , Período Pós-Prandial , Canais de Potássio Corretores do Fluxo de Internalização/genética , Glicemia/genética , Automonitorização da Glicemia , Criança , Glipizida/uso terapêutico , Humanos , Hipoglicemiantes/uso terapêutico , Recém-Nascido , Compostos de Sulfonilureia/farmacologia
6.
Atherosclerosis ; 185(2): 413-20, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16051254

RESUMO

Familial LCAT deficiency (FLD) is a rare genetic disorder associated with corneal opacities, anaemia and proteinuria with renal failure. Here we report detailed analyses on plasma lipids, lipoproteins, and the molecular defect in two siblings from a Polish family presenting classical symptoms of FLD and their family members with newly discovered Val309Met mutation in exon 6 of LCAT gene. Both patients displayed low total (2.19 and 2.94 mmol/l) and HDL-cholesterol concentrations (0.52 and 0.48 mmol/l), low percentage of cholesteryl esters (CE) (11.1 and 12%), and decreased apo AI and apo AII serum levels. Low LDL-cholesterol, apo B and Lp(a) levels, and increased oleate/linoleate ratios in CE could be of importance in the development of atherosclerosis in these patients with low HDL-cholesterol. LCAT activity was 10% of normal, alpha-LCAT activity was 0, and LCAT concentration was undetectable by immunoassay. Plasma CETP activity was at lower limits of normal. PCR and sequence analysis of DNA from the proband and affected brother revealed a novel G-->A mutation in exon 6 of LCAT gene, which resulted in an amino acid substitution of valine for methionine (Val309Met). The proband and affected brother were both homozygous carriers, while the mother, siblings and children of patients were heterozygous carriers of a newly discovered mutation. This is the first LCAT mutation described in the Slavic population.


Assuntos
Deficiência da Lecitina Colesterol Aciltransferase/genética , Mutação , Fosfatidilcolina-Esterol O-Aciltransferase/genética , Adolescente , Adulto , Substituição de Aminoácidos , Apolipoproteínas/sangue , Proteínas de Transporte/sangue , Criança , Proteínas de Transferência de Ésteres de Colesterol , Ésteres do Colesterol/sangue , Feminino , Glicoproteínas/sangue , Humanos , Deficiência da Lecitina Colesterol Aciltransferase/sangue , Lipídeos/sangue , Lipoproteínas/sangue , Masculino , Linhagem
7.
Przegl Lek ; 63(12): 1252-5, 2006.
Artigo em Polonês | MEDLINE | ID: mdl-17642133

RESUMO

Fetuin A and matrix GLA protein--MGP are known as extraosseus calcification inhibitors. The aim of the study was to assess the dependence between metabolic status and fetuin A and matrix GLA protein levels in type 1 diabetic patients without ischaemic heart disease. The study was performed in a group consisting of 35 patients with type 1 diabetes mellitus (22 women and 13 men). Mean age of the studied group equaled 38.8 +/- 11.24 years, duration of diabetes mellitus 20.77 +/- 10.11 years. Fetuin A significantly correlated with HDL-cholesterol (r = 0.45; p = 0.007). Total cholesterol, LDL-chol and triglicerides correlated with HbA1c (r = 0.40, p = 0.03; r = 0.41, p = 0.03 and r = 0.37, p = 0.05), HDL-chol significantly correlated with glucose level at the examination day (r = 0.52, p = 0.04). There were also positive correlations of trigliceride with uric acid (r = 0.47, p = 0.09) and cystatin C (r = 0.44, p = 0.02). There were no correlation of MGP with other examined parameters. Initial results of fetuin A and MGP levels in long-term type 1 diabetic patients without ischaemic heart disease draws attention to new parameters in macroangiopathy development.


Assuntos
Proteínas de Ligação ao Cálcio/sangue , Diabetes Mellitus Tipo 1/sangue , Proteínas da Matriz Extracelular/sangue , alfa-Fetoproteínas/análise , alfa-Fetoproteínas/metabolismo , Adulto , Biomarcadores/sangue , Biomarcadores/urina , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Diabetes Mellitus Tipo 1/complicações , Angiopatias Diabéticas/etiologia , Neuropatias Diabéticas/diagnóstico , Neuropatias Diabéticas/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Isquemia Miocárdica/etiologia , Triglicerídeos/sangue , Proteína de Matriz Gla
9.
Przegl Lek ; 62(12): 1451-4, 2005.
Artigo em Polonês | MEDLINE | ID: mdl-16786771

RESUMO

UNLABELLED: Cardiovascular and renal complications among type 1 diabetic patients are predictive factors for sudden cardiac death and stroke. The aim of the study was to assess the prevalence of diabetic nephropathy and autonomic neuropathy in type 1 diabetic patients with and without diastolic dysfunction in echocardiographic examination. The study was performed in a group consisting of 37 patients with type 1 diabetes mellitus. Mean age of the study group equaled 37.24 +/- 10.85 years, duration of diabetes mellitus 21.3 +/- 9.55 years. All patients performed EKG, and cardiovascular autonomic test with ProSciCard according to Ewing battery. The following parameters were assessed: heart rate (HR), standard deviation of HR, RMSDD, VLF, LF, HF, deep breathing test, Ewing supine test and Valsalva maneuver. Systolic and diastolic function was assessed in echocardiography examination at rest. In all patients following laboratory parameters were assessed: HbA1c, total chol, LDL-chol, HDL-chol, triglicerides, uremic acid, glucose, albumin, creatinine, cystatin C, microalbuminuria. RESULTS: mean heart rate in the examined group --78.38 +/- 15.54 /min, VLF--1.59 +/- 1.7; LF--4.22 +/- 1.51, HF--0.82 +/- 0.88, mean heart rate during deep breathing test --79.63 +/- 13.71, Ewing ratio--0.91 +/- 0.11. Cardiovascular autonomic neuropathy and diabetic neuropathy were diagnosed in 3 patients, these patients suffered also from proliferative retinopathy and diabetic nephropathy. The remaining group of 34 patients has normoalbuminuria. Calculated creatinine clearance according to Cockroft-Gault equation was 88.85 +/- 9.60 m/min, cystatin C concentration--0.97 +/- 0.22 ng/ml. In echocardiography exam, there were no abnormalities in systolic function, and diastolic dysfunction was diagnosed in 15 patients. Preliminary results showed that only the cystatin C level significantly differed patients with and without diastolic dysfunction in echocardiographic examination. Cystatin C could be the first sign of renal failure among these patients. Cardiovascular autonomic neuropathy and diabetic nephropathy were diagnosed only in 3 patients with left ventricular diastolic dysfunction in echocardiographic study.


Assuntos
Diabetes Mellitus Tipo 1/complicações , Nefropatias Diabéticas/etiologia , Neuropatias Diabéticas/etiologia , Isquemia Miocárdica/etiologia , Adulto , Albuminúria/urina , Biomarcadores/sangue , Biomarcadores/urina , Glicemia/análise , Colesterol/sangue , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Cistatina C , Cistatinas/sangue , Diabetes Mellitus Tipo 1/fisiopatologia , Nefropatias Diabéticas/diagnóstico , Neuropatias Diabéticas/diagnóstico , Feminino , Taxa de Filtração Glomerular , Hemoglobinas Glicadas/análise , Humanos , Masculino , Isquemia Miocárdica/sangue , Estudos Retrospectivos , Estatísticas não Paramétricas , Triglicerídeos/sangue
10.
Przegl Lek ; 62(1): 46-8, 2005.
Artigo em Polonês | MEDLINE | ID: mdl-16053221

RESUMO

Arterial compliance is a significant prognostic factor of cardiovascular risk. Elevated serum homocysteine level is related to increased oxidative stress and impaired endothelial function. The aim of the study was to evaluate factors influencing arterial compliance in patients with diabetes. We examined 30 patients with type 2 diabetes. In each patient we performed measurements of arterial compliance, blood pressure, serum lipids, glucose and homocysteine concentration and microalbuminuria. Serum lipids were determined by enzymatic methods, using Boehringer-Mannheim reagents, homocysteine levels by ELISA, using Bio-Rad reagents, HbA1c by HPLC method and microalbuminuria by immunonephelometric method. Arterial compliance assessment was based on measurements of pulse wave velocity (PWV), registered on femoral and carotid arteries (mean of 20 measurements), using automatic sensor (Fukuda) and Complior system. The mean age of patients was 62.2 +/- 8.1 years, BMI 30.0 +/- 3.4 kg/m2, waist to hip ratio (WHR) 0.9 +/- 0.09, mean diabetes duration 14.1 +/- 7.5 years, and HbA1c level 7.7 +/- 1.5%. Mean cholesterol, HDL-cholesterol and triglyceride serum concentrations were as follows: 5.7 +/- 1, 2 mmol/l; 1.32 +/- 0.43 mmol/ll and 1.8 +/- 1.0 mmol/l, and homocysteine levels 16.3 +/- 3.9 mmol/l. Arterial compliance significantly correlated with age (r = 0.52, p = 0.007), homocysteine concentration (r = 0.47, p = 0.015), WHR(r = 0.47, p = 0.015) and creatinine levels (r = 0.51, p = 0.016). The results of the study suggest that in patients with type 2 diabetes arterial compliance is associated not only with age but also with serum homocysteine levels and renal function parameters.


Assuntos
Velocidade do Fluxo Sanguíneo , Vasos Coronários/fisiopatologia , Diabetes Mellitus Tipo 2/complicações , Idoso , Idoso de 80 Anos ou mais , Albuminúria , Doenças Cardiovasculares/fisiopatologia , Complacência (Medida de Distensibilidade) , Feminino , Homocisteína/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
11.
Cardiol J ; 22(2): 150-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25299503

RESUMO

BACKGROUND: ARETAEUS 1 study showed that a great majority of patients with type 2 diabetes mellitus (T2DM) of short duration did not meet all of the treatment goals. Since then the treatment goals in T2DM have been changed. The aim of the ARETAEUS 2-Grupa Study was to assess cardiovascular (CV) risk management and meeting treatment goals in the population of T2DM of more than 10-year duration. METHODS: ARETAEUS2-Grupa was a cross-sectional questionnaire-based study conducted in Poland in 2012. Randomly selected physicians recruited 1,740 patients with T2DM diagnosed more than 10 years before the study. RESULTS: Lipid treatment goals were met respectively: for total cholesterol in 34.5% of all patients, triglycerides in 53.8%, low density lipoprotein cholesterol (LDL-C) in 26.5% and high density lipoprotein cholesterol (HDL-C) in 38.2%. Most of patients with and without coronary artery disease were receiving aspirin (90.3% and 60%, respectively) and statins (84.4% and 67.7%, respectively). The current blood pressure (BP) goal (140/90 mm Hg) was met in 43.5% of patients and the previous goal (< 130/80 mm Hg) in 12.4%. The patients were mainly treated with ≥ 3 antihypertensive drugs. All treatment goals (for HbA1c, BP and LDL-C) were reached only by 8.2% of patients, any two goals by 26.3% of patients, one goal by 39.8% of patients, none by 25.6% of patients. CONCLUSIONS: The new less restrictive treatment goals are reached more frequently but still much is to be done in the field of clinical practice guidelines implementation and CV prevention in T2DM population.


Assuntos
Anti-Hipertensivos/uso terapêutico , Doenças Cardiovasculares/prevenção & controle , Doença da Artéria Coronariana/tratamento farmacológico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Hiperlipidemias/tratamento farmacológico , Hipertensão/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Inibidores da Agregação Plaquetária/uso terapêutico , Idoso , Biomarcadores/sangue , Pressão Sanguínea/efeitos dos fármacos , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/epidemiologia , Estudos Transversais , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Hemoglobinas Glicadas/metabolismo , Fidelidade a Diretrizes , Pesquisas sobre Atenção à Saúde , Humanos , Hiperlipidemias/sangue , Hiperlipidemias/diagnóstico , Hiperlipidemias/epidemiologia , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Hipertensão/fisiopatologia , Lipídeos/sangue , Masculino , Pessoa de Meia-Idade , Polônia/epidemiologia , Guias de Prática Clínica como Assunto , Padrões de Prática Médica , Medição de Risco , Fatores de Risco , Inquéritos e Questionários , Fatores de Tempo , Resultado do Tratamento
12.
Eur J Endocrinol ; 146(5): 695-9, 2002 May.
Artigo em Inglês | MEDLINE | ID: mdl-11980626

RESUMO

OBJECTIVE: The polymorphisms of two genes have recently been associated with complex forms of type 2 diabetes mellitus (T2DM): calpain 10 and peroxisome proliferator-activated receptor-gamma (PPARgamma). Calpain 10 is a member of a large family of intracellular proteases. It was shown in Mexican-Americans and other populations that variants of three single nucleotide polymorphisms (SNPs), -43, -19, and -63, of this ubiquitously expressed protein influence susceptibility to T2DM. 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. AIM: To examine the role of calpain 10 SNPs -43, -19, and -63 in genetic susceptibility to T2DM in a Polish population. METHODS: Overall, 377 individuals were examined: 229 T2DM patients and 148 control individuals. The groups were genotyped for calpain 10 SNP-43, SNP-19, and SNP-63. SNP-19 was examined by electrophoresis of the PCR product on agarose gel by size, while the restriction fragment length polymorphism (RFLP) method was used for the two other markers. Differences in allele, genotype, haplotype, and haplotype combination distribution between the groups were examined by chi(2) test. RESULTS: Distributions of alleles, genotypes, and haplotypes at three loci defined by examined SNPs were not significantly different between the groups. However, the homozygote combination of 121 haplotype was more prevalent in the T2DM group than in the controls (17.9% vs 10.1%, P=0.039). No difference was observed in the 112/121 haplotype distribution. This heterozygous haplotype combination was associated with increased risk of T2DM in several populations. CONCLUSION: The results of our study suggest the association of calpain 10 121/121 haplotype combination created by SNPs -43, -19, and -63 with T2DM in a Polish population. However, we were not able to confirm the previously described role of the heterozygous 112/121 haplotype combination in susceptibility to T2DM.


Assuntos
Calpaína/genética , Diabetes Mellitus Tipo 2/genética , Haplótipos , Homozigoto , Adulto , Idoso , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Polônia , Polimorfismo Genético , Valores de Referência
13.
Clin Chim Acta ; 331(1-2): 29-35, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12691861

RESUMO

BACKGROUND: Glucometry is an essential part of diabetes treatment, but so far, no standard quality control procedure verifying blood glucose meter results is available. In this study, we evaluated the analytical performance of eight glucose meters: GX and Esprit (Bayer Diagn.), MediSense Card Sensor, ExacTech (MediSense) with strips Selfcare (Cambridge Diagn), One Touch Basic, One Touch II, One Touch Profile (Lifescan) and Glucotrend (Boehringer Mannheim/Roche). METHODS: The evaluation included within-run imprecision, linearity, comparison with the laboratory method and calculation of differences between individual glucometers. RESULTS: Within-run imprecision ranged from 1.5% to 4.5%, linearity assessed as the correlation between measured and calculated glucose concentrations yielded r(2) values from 0.97 to 0.981. Analytical bias of glucose concentration values obtained by the glucometry amounted from 0.14% to 16.9% of values measured by the laboratory method. Bias higher than 5% was found for One Touch Basic, II and Profile meters (however, glucose concentrations in plasma obtained by the laboratory method One Touch meters showed analytical bias from 3.0% to 8.8%). The regression analysis yielded slope values from 0.77 to 1.09 and r(2) values from 0.86 to 0.98. The best correlations with the laboratory method were found for One Touch Basic, II Profile, Glucotrend and Esprit meters. The calculated differences between the individual glucose meters can constitute 0.02-1.49 mmol/l (0.96-26.9%) at glucose concentration 5.55 mmol/l, and 0.16-4.16 mmol/l (0.96-24.96%) at glucose concentration 16.67 mmol/l. Error grid analyses have shown that Glucometers One Touch Basic and One Touch Profile yielded all results in zone A (acceptable). The remaining glucometers yielded 1-7% of results in zones B (insignificant errors), C or D (lack of detection and treatment). CONCLUSIONS: All studied glucometers had both small deviation from laboratory reference values (<10%) and high concurrence with results obtained by the laboratory method.


Assuntos
Automonitorização da Glicemia/normas , Glicemia/análise , Diabetes Mellitus/sangue , Automonitorização da Glicemia/métodos , Estudos de Avaliação como Assunto , Humanos , Controle de Qualidade , Valores de Referência , Análise de Regressão , Reprodutibilidade dos Testes
14.
Diabetes Res Clin Pract ; 57(2): 99-104, 2002 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12062854

RESUMO

Polymorphisms of the genes involved in the metabolism of vitamin D may predispose to type 2 diabetes mellitus (T2DM). For example, there is evidence suggesting that vitamin D binding protein (DBP) amino acid variants at codons 416 (aspartic acid-->glutamic acid) and 420 (threonine-->lysine) may affect genetic susceptibility to T2DM. The aims of this study are: (1) to determine the allele, genotype, haplotype and haplotype combination frequencies of those DBP amino acid variants in a Polish population and (2) to examine their role in the genetic susceptibility to T2DM in a Polish population. Overall 393 individuals were included in this study: 231 T2DM patients and 162 controls. The sequence of DBP exon 11, which contains both examined variants, was amplified by polymerase chain reaction (PCR). Alleles and genotypes were determined based on electrophoresis of the DNA digestion products by specific restriction enzymes HaeIII and StyI. Since variants of DBP were in very strong linkage disequilibrium, haplotypes could be assigned to phase-unknown individuals. Differences in distributions between the groups were examined by chi(2) test. At codon 416 the frequency of Asp/Glu alleles was 44.6/55.4% in T2DM patients and 40.7/59.3% in controls (chi(2)=2.1, d.f.=1, P=0.28). At codon 420 the frequency of Thr/Lys alleles were 69.4/30.6% and 71.6/28.4%, (chi(2)=0.41, d.f.=1, P=0.52), respectively. Distribution of genotypes, haplotypes and haplotype combinations were similar in both groups. In conclusion, the frequency of amino acid variants at codons 416 and 420 of vitamin D binding protein gene in a Polish population is similar to other Caucasian populations, but differs significantly from other races. No evidence was found for an association between DBP frequent polymorphisms and T2DM in this population.


Assuntos
Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença/genética , Proteína de Ligação a Vitamina D/genética , Idade de Início , Substituição de Aminoácidos , Índice de Massa Corporal , DNA/sangue , DNA/genética , Diabetes Mellitus Tipo 2/fisiopatologia , Feminino , Frequência do Gene , Variação Genética , Haplótipos , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Polônia , Reação em Cadeia da Polimerase , Valores de Referência
15.
Diabetes Res Clin Pract ; 62(2): 105-11, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14581147

RESUMO

INTRODUCTION: It has recently been shown that polymorphisms of some genes might influence the genetic susceptibility to complex, multifactorial forms of type 2 diabetes mellitus (T2DM). One of those genes is peroxisome proliferator activated receptor gamma (PPARgamma). The PPARgamma gene product is a nuclear hormone receptor that regulates adipogenesis and is a target for thiazolidinediones, medications enhancing sensitivity to insulin. The Pro12Ala amino acid variant of the PPARgamma2 isoform is associated with T2DM in several populations. AIMS: (1) To determine the allele and genotype frequency of the Pro12Ala PPARgamma2 amino acid variant in a Polish population; (2) To search for the association of the Pro12Ala polymorphism with T2DM in the examined population. METHODS: We included 644 individuals in this study: 366 T2DM patients with age of diagnosis greater than 35 years and 278 non-diabetic control subjects. The fragment of the PPARgamma2 gene which contains the examined amino acid variant was amplified by polymerase chain reaction (PCR). Alleles and genotypes were determined based on electrophoresis of the DNA digestion products by the specific restriction enzyme BshI. Differences in distribution between the groups were examined by chi2 test. RESULTS: The frequency of Pro/Ala alleles was similar in T2DM patients and in the control subjects (83.5%/16.5% vs. 84.5%/15.5%, respectively, P=0.607). Similarly, there was no difference between the groups when we analysed the genotype distribution. Stratification analyses based on age of diagnosis, body mass index (BMI), and family history of T2DM were performed. The Pro/Ala and Ala/Ala genotypes tended to be more frequent in T2DM cases with age of diagnosis >50 years than in controls (36.2% vs. 27.3%, P=0.046). This difference was not significant after Sheffe correction for multiple comparisons. The other stratification analyses did not show any difference between the groups. CONCLUSION: The frequency of the Pro12Ala PPARgamma2 polymorphism in the Polish population studied is similar to that in other Caucasian populations. In the case-control study, we were not able to confirm earlier reports that the Pro allele conferred an increased risk for development of T2DM. Moreover, the results of the stratified analysis suggest an opposite trend in late onset T2DM.


Assuntos
Diabetes Mellitus Tipo 2/genética , Polimorfismo de Fragmento de Restrição , Receptores Citoplasmáticos e Nucleares/genética , Fatores de Transcrição/genética , Idade de Início , Alanina , Substituição de Aminoácidos , Índice de Massa Corporal , Predisposição Genética para Doença/genética , Genótipo , Hemoglobinas Glicadas/análise , Humanos , Pessoa de Meia-Idade , Polônia , Prolina , Isoformas de Proteínas/genética , Valores de Referência , População Branca
17.
Przegl Lek ; 59(7): 514-8, 2002.
Artigo em Polonês | MEDLINE | ID: mdl-12516240

RESUMO

Despite of dramatic improvement in diagnostic procedures and treatment of diabetic patients, cardio-vascular complications are still the most frequent causes of death in these patients. Diabetes influences myocardial and coronary vessels function by coexisting macroangiopathy, microangiopathy, metabolic disturbances and autonomic nervous system neuropathy. All these factors result in diastolic and systolic dysfunction of the heart. Cardiomyopathy, congestive heart failure and serious arrhythmias are the end stage of diabetic complications. Macroangiopathy demonstrates accelerated atherosclerosis (involving coronary arteries), which consequences can be observed in 1 type diabetes patients at around the age of 30. Causes of increased risk of macroangiopathy in type 1 diabetic patients are not clear. There are not many clinical, prospective trials which can allow for etiology determination of the increased incidence of atherosclerosis and mortality due to coronary artery disease in this population. Adding to traditional risk factors of atherosclerosis like genetic factors, hypertension, dyslipidemia, obesity, smoking and improper diet, other important risk factors are observed in diabetic patients. Only few clinical trials suggest that hyperglycemia, glycation, glycoxidation of proteins, lipoproteins, changes in their composition, microalbuminuria, coagulation, fibrinolytic disturbances are additional risk factors of endothelium dysfunction and atherosclerosis. Prevention and treatment of accelerated coronary artery disease and it's consequences are more complicated in the diabetic population than in others. Some of the clinical trials suggest that even improved glycemic control does not eliminate the elevated risk of coronary artery disease in type 1 diabetic patients.


Assuntos
Cardiomiopatias/etiologia , Vasos Coronários/fisiopatologia , Diabetes Mellitus Tipo 1/complicações , Angiopatias Diabéticas/etiologia , Insuficiência Cardíaca/etiologia , Arritmias Cardíacas/etiologia , Cardiomiopatias/fisiopatologia , Cardiomiopatia Dilatada/etiologia , Doença da Artéria Coronariana/etiologia , Angiopatias Diabéticas/complicações , Angiopatias Diabéticas/fisiopatologia , Insuficiência Cardíaca/fisiopatologia , Humanos , Fatores de Risco
18.
Przegl Lek ; 60(12): 778-81, 2003.
Artigo em Polonês | MEDLINE | ID: mdl-15058015

RESUMO

Increased homocysteine and C-reactive protein (CRP) concentration is associated with increased coronary risk. The aim of the study was to assess the potential relationships between homocysteine and CRP levels and lipid coronary risk factors in men and women with diabetes. We examined 117 persons, 64 men and 53 women. Mean age of examined men was 62.0 +/- 8.1 yrs, mean diabetes duration 12.1 +/- 7.4 yrs, BMI 29.7 +/- 3.7 kg/m2; in women 60.6 +/- 8.1 yrs, 12.1 +/- 6.3 yrs and 31.8-4.9 kg/m2 respectively. Serum homocysteine and creatinine values were significantly higher in men than in women (15.3 +/- 4.7 vs 13.3 +/- 3.9 mumol/l and 93.6 +/- 19.8 vs 74.4 vs 17.2 mumol/l respectively), while HDL-cholesterol, fibrinogen and CRP levels were significantly higher in women than in men (1.28 +/- 0.5 vs 1.13 +/- 0.25 mmol/l; 3.53 +/- 0.5 vs 3.26 +/- 0.8 g/l and 4.7 +/- 3.2 mg/l vs 4.1 +/- 7.2 mg/l respectively). In men CRP concentration correlated significantly with BMI (r = 0.45, p < 0.01), fibrinogen (r = 0.42, p < 0.05) and HDL-cholesterol levels (r = -0.46, p < 0.01) I; in women it correlated with diabetes duration (r = 0.41, p < 0.01), BMI (r = 0.33, p < 0.05), WHR (r = 0.44, p < 0.01), postprandial glucose (r = 0.39, p < 0.05), HbA1c (r = 0.54, p < 0.010) and LDL-cholesterol concentration (r = 0.33, p < 0.05). Serum homocysteine was significantly associated with WHR (r = 0.39, p < 0.001) and creatinine (r = 0.26, p < 0.05) in men, while in women it also correlated with creatinine levels (r = 0.37, p < 0.01) and with age (r = 0.54, p < 0.001), HbA1c (r = 0.53, p < 0.01) and LDL-cholesterol levels (r = 0.31, p < 0.05). The results indicate the potential role of homocysteine and CRP level modification by influencing lipid levels and fat mass in patients with type 2 diabetes.


Assuntos
Proteína C-Reativa/metabolismo , Creatinina/sangue , Diabetes Mellitus Tipo 2/sangue , Fibrinogênio/metabolismo , Homocisteína/sangue , Lipídeos/sangue , Idoso , Glicemia/metabolismo , Índice de Massa Corporal , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Feminino , Hemoglobinas Glicadas/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Triglicerídeos/sangue
19.
Przegl Lek ; 61(1): 25-9, 2004.
Artigo em Polonês | MEDLINE | ID: mdl-15230102

RESUMO

Neuropathy, one of the most common diabetes complications, is characterized by highly variable clinical picture. It is not established what evaluation scheme should be applied in the assessment of patient regarding diabetic neuropathy. The validity of various laboratory tests in the diagnosis of diabetic neuropathy also remains unclear. This paper describes different clinical manifestations of diabetic neuropathy and presents the most important methods of assessment of patients with neuropathy suspected based on literature data and authors' observations. Authors highlighted the implications of different methods in diagnostic process. The most valid methods include physical evaluation, determination of vibration sensation and assessment of nerve conduction velocity. The autonomic functions tests have a special role allowing for the diagnosis of autonomic neuropathy.


Assuntos
Neuropatias Diabéticas/diagnóstico , Doenças do Sistema Nervoso Autônomo/diagnóstico , Humanos , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Fatores de Risco , Índice de Gravidade de Doença
20.
Przegl Lek ; 59(11): 881-4, 2002.
Artigo em Polonês | MEDLINE | ID: mdl-12715713

RESUMO

It is difficult to establish predictors for diabetic neuropathy because no generally accepted criteria of its diagnosis exist. In previous investigations risk factors profiles for neuropathy differ markedly. The aim of this study was to assess risk predictors for diabetic neuropathy in relation to different criteria of its diagnosis. Ninety-five diabetic patients entered the study. The exclusion criteria included uremia, alcohol abuse and radiculopathy. Control group consisted of 43 healthy volunteers. All patients underwent the clinical assessment, instrumental evaluation of superficial and deep sensation, tests of cardiovascular autonomic function and nerve conduction studies. According to the performed assessment patients were classified into following groups: without neuropathy, suspicion of neuropathy, neuropathy confirmed in clinical examination, neuropathy confirmed in electrophysiological testing, autonomic neuropathy. Analysis showed that the most important predictors in patients with subjective symptoms were type 2 diabetes mellitus, diabetes duration and age of patients. When neuropathy was diagnosed according to the clinical examination, predictors included type 2 diabetesmellitus and duration of the disease. In the cases of neuropathy confirmed by electrophysiological studies and autonomic neuropathy, only diabetes duration appeared to be a significant predictor. Our study demonstrated that predictors for diabetic neuropathy varied in relation to different diagnostic criteria and where the most important predictor for all forms of neuropathy is duration of diabetes. This result indicates the need for frequent screening tests in patients with long duration of the disease, irrespective of its metabolic control, patients' age or type of diabetes.


Assuntos
Neuropatias Diabéticas/diagnóstico , Adolescente , Adulto , Idoso , Doenças do Sistema Nervoso Autônomo/epidemiologia , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiologia , Neuropatias Diabéticas/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Fatores de Risco , Índice de Gravidade de Doença
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