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PURPOSE OF REVIEW: In our pilot study, we aimed to determine how many patients with the statin intolerance history referred to the specialized center for the diagnostics and treatment of lipoprotein metabolism disorders really suffer from a complete statin intolerance. The purpose of the study was to prove that complete statin intolerance is overestimated and overdiagnosed, and with the detailed knowledge of the issue and patient approach, it is possible to find an appropriate statin treatment for the most of patients. RECENT FINDINGS: With the increasing number of statin users worldwide, the issue of statin intolerance has been a frequently discussed topic in recent years. There are many factors that play a role in the manifestation of statin intolerance (predisposing factors as age, sex, and some diseases), genetic factors leading to a different metabolism, drug-drug interactions, psychological reasons, and the negative influence of the mass media. However, it is estimated that true complete statin intolerance, defined by an intolerance of at least three statins at their usual lowest daily doses, occurs in approximately 3-6% of all statin users. In our pilot study, we conducted a retrospective analysis of 300 patients who were referred to the Center of Preventive Cardiology with a history of statin intolerance. During the follow-up treatment, 222 patients (74%) were able to use some statin (rosu-, atorva-, simva-, fluvastatin), and in 21% of the cases (63 patient), the target values according their CV risk level were even achieved. Only 78 patients (26%) were confirmed as being complete statin intolerant following a thorough therapeutic effort. The most tolerated statin was rosuvastatin.
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Enfermedades Cardiovasculares/prevención & control , Inhibidores de Hidroximetilglutaril-CoA Reductasas/efectos adversos , Rosuvastatina Cálcica/efectos adversos , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Prevención Primaria , Estudios Retrospectivos , Prevención Secundaria , Resultado del TratamientoRESUMEN
Coronary artery bypass graft (CABG) surgery is one of the most commonly performed operations worldwide. We compared genotype frequencies of three major cardiovascular disease (CVD)-associated genetic markers (ANRIL, FTO and 2q36.3 locus) between 753 patients who underwent CABG at the Institute for Clinical and Experimental Medicine (Prague, Czech Republic) and 2,559 controls from the Czech post-MONICA study. Subjects with at least one major A allele in the rs10757274 polymorphism (ANRIL) were more prevalent in patients after CABG than in the controls (81.7 % vs 72.7 %; OR [95 % CI] 1.67 [1.35-2.05]; P < 0.0001). In contrast, variants within the FTO gene (OR 0.87; 95 % CI, 0.70-1. 09 in a TT vs. GG comparison, P = 0.24) and 2q36.3 locus (OR 1.16; 95% CI, 0.98-1.37 in a +A vs. CC comparison, P = 0.08) were not significantly associated with CVD in our study. Variants were not associated with anthropometric, biochemical, or clinical characteristics within the patient group. Our study suggests that patients with CABG are more commonly carriers of some but not all CVD-associated alleles.
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Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , Puente de Arteria Coronaria , Enfermedad de la Arteria Coronaria , Marcadores Genéticos , ARN Largo no Codificante/genética , Enfermedad de la Arteria Coronaria/genética , República Checa , Genotipo , Humanos , Polimorfismo GenéticoRESUMEN
In humans, leukocyte telomere length (LTL) reduces with age and is reported to be inversely associated with ageing-related diseases. We measured LTL in leukocyte DNA using a quantitative PCR-based method from 127 blood samples of heart recipients (107 males, 20 females, age 44.1 ± 10.5), followed for up to 30 years. Patients with coronary artery disease survived for a shorter time and also had shorter LTL (both P < 0.05 after adjustment for age and sex) than subjects with dilated cardiomyopathy. Patients with non-cardiac causes of death had shorter LTL than patients with cardiac causes (P < 0.05 after adjustment for age). An inverse correlation between LTL and age (P < 0.03) was observed in patients with non-cardiac causes of death only. Most importantly, LTL was not associated with general survival time in patients after heart transplantation. However, shorter LTL was a marker of non-cardiac causes of death. Different LTLs and survival times were determined in association with aetiology of heart failure (HF).
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Trasplante de Corazón/mortalidad , Leucocitos/metabolismo , Homeostasis del Telómero , Adulto , Causas de Muerte , Estudios de Seguimiento , Insuficiencia Cardíaca/etiología , Insuficiencia Cardíaca/mortalidad , Humanos , Estimación de Kaplan-Meier , Masculino , Análisis de SupervivenciaRESUMEN
Myocardial infarction (MI) is the leading cause of death in industrialized countries. All the traditional risk factors for MI are responsible for approximately 50% of cases of MI cases. Attention therefore has recently focused on genetic variants that are not associated with conventional risk factors. One of them is the marker rs6922269, which has been suggested as a risk factor for development of MI in Western populations. We analyzed the relationship between rs6922269 variant on MTHFD1L gene and (i) risk of the acute coronary syndrome (ACS) in the Czech population and (ii) mortality in 7 years follow up. Rs6922269 (G>A) variant was analyzed (CR 99.3% for patients and 98.0% for controls) by PCR-RFLP in consecutively examined 1614 men and 503 women with ACS (age below 65 years) and in population-based controls--1191 men and 1368 women (aged up to 65 years). ANOVA and Chi square were used for statistical analysis. The genotype frequencies were almost identical (P=0.87) in the ACS patients and in controls and no differences were observed, if males (P=0.73) and females (P=0.93) were analysed separately. In addition, rs6922269 polymorphism was not associated with the classical risk factors (dyslipidemia, hypertension, obesity, smoking, diabetes) in control population. Cardiovascular mortality was significantly higher in males, carriers of the AA genotype (P<0.001, OR 2.52, 95% CI 1.40-4.55, for AA vs. +G). We conclude, that rs6922269 variant at MTHFD1L gene could be an important prognostic factor for cardiovascular mortality in patients after ACS.
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Síndrome Coronario Agudo/mortalidad , Aminohidrolasas/genética , Formiato-Tetrahidrofolato Ligasa/genética , Metilenotetrahidrofolato Deshidrogenasa (NADP)/genética , Complejos Multienzimáticos/genética , Infarto del Miocardio/mortalidad , Polimorfismo de Nucleótido Simple , Síndrome Coronario Agudo/genética , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Infarto del Miocardio/epidemiología , Infarto del Miocardio/genética , Polimorfismo de Longitud del Fragmento de Restricción , Factores de RiesgoRESUMEN
OBJECTIVE: ST2, a member of the interleukin-1 receptor family, is selectively expressed on Th2 cells and mediates important Th2 functions. IL-33 is a specific ligand of ST2. The aim of the study was to determine whether serum levels of soluble ST2 (sST2) or IL-33 predict activity of the disease in patients with ANCA-associated vasculitides (AAV). METHODS: 139 AAV patients and 62 controls were studied. IL-33 and sST2 in the blood were measured with a commercially available ELISA. RESULTS: Newly diagnosed AAV patients had higher sST2 levels than controls (P < 0.01). Levels of sST2 were significantly higher in active newly diagnosed AAV patients than in patients with remission (P < 0.001). IL-33 levels were higher in AAV patients than in the control groups (P = 0.002). However, serum IL-33 levels were not increased in patients with active AAV compared to patients in remission. IL-33 levels were higher in patients with granulomatosis with polyangiitis than in patients with microscopic polyangiitis (P = 0.012). CONCLUSIONS: Serum sST2, but not serum IL-33, may be a marker of activity in AAV patients.
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Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos/inmunología , Receptores de Superficie Celular/sangre , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Proteína 1 Similar al Receptor de Interleucina-1 , Interleucina-33/sangre , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVES: Alveolar haemorrhage (AH) is a major cause of early death in anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). There is a paucity of information regarding the outcomes of AAV patients presenting with severe AH. METHOD: A retrospective cohort study. Patients with severe AH were identified from a case review of 824 AAV patients. Demography, presenting features, treatment, and outcomes are described. RESULTS: Fifty-three patients (33 males, 20 females; median age 59 years) with severe AH were identified: 37 (69.8%) with granulomatosis with polyangiitis (Wegener's) and 16 with microscopic polyangiitis [36 proteinase 3 (PR3)-ANCA positive and 17 myeloperoxidase (MPO)-ANCA positive]. AH was the first disease manifestation in 46 (86.8%) patients. Assisted ventilation was required in 36 (67.9%), renal involvement was present in 52 (98.1%), and 28 (52.8%) required dialysis. Forty (75.5%) received plasma exchange. At 3 months, 44/53 (83.0%) were alive. The mean follow-up was 49 months when 31 (58.5%) were alive and 24 (45.3%) dialysis independent. Mortality was higher in those requiring dialysis at entry (57.1% vs. 24%, p = 0.02) and in patients aged > 65 years (71.4% vs. 30.8%, p = 0.01), and tended to be higher in those requiring intubation (54.5% vs. 32.2%, p = 0.1). CONCLUSIONS: Severe AH was more commonly associated with PR3-ANCA (vs. MPO-ANCA) and strongly correlated with renal vasculitis. Current treatment of severe AH leads to remission but long-term mortality remains high. Concurrent renal failure and older age were associated with higher mortality.
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Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos/complicaciones , Vasculitis Asociada a Anticuerpos Citoplasmáticos Antineutrófilos/mortalidad , Hemorragia/mortalidad , Enfermedades Pulmonares/mortalidad , Alveolos Pulmonares , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Hemorragia/etiología , Hemorragia/terapia , Humanos , Enfermedades Pulmonares/etiología , Enfermedades Pulmonares/terapia , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
The aim of this study was to examine single nucleotide polymorphisms (SNPs) of candidate genes α 2-Heremans-Schmid glycoprotein ( AHSG , rs4917), Hypocretin ( HCRT , rs760282) and Neuropetide Y2 receptor (NPY2R , rs 1047214), which are known to have a potential effect on body mass index (BMI) and other indicators of obesity. A population study was performed in 2007/2008 on 2559 adults (1191 males and 1368 females) from the Czech post-MONICA project. The SNPs were examined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We did not find any significant association between the examined SNPs and BMI across the whole population. A significantly lower triglyceride level was found in the AHSG gene CC homozygotes compared to T allele carriers in the entire population ( p = 0.009). In conclusion, we are not able to confirm the hypothesis that polymorphisms within the AHSG , HCRT and NPY2R genes are major genetic determinants of BMI and plasma lipids in the Czech-Slavonic population.
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Myocardial infarction (MI) is the leading cause of death in industrialized countries. All the classical risk factors for MI are responsible for approximately 50 % of MI cases. Attention has therefore recently been attracted to those genetic variants that are not associated with conventional risk factors. One of them is the marker rs10757274 in the "genefree" zone on chromosome 9, which has been repeatedly recognized as a risk factor for development of MI in Western populations. We analysed the relationship between the rs10757274 variant on chromosome 9 and risk of the acute coronary syndrome (ACS) in Czech population. The rs10757274 (A > G) variant was successfully analysed (CR = 99.4 % for patients and 98.4 % for controls) by PCR-RFLP in consecutively examined 1,046 men and 281 women with ACS (age below 65 years) and in population-based controls - 1,162 men and 1,355 women (aged up to 65 years). ANOVA and χ2 were used for statistical analysis. We confirmed that GG homozygotes are more frequent (codominant model of analysis) among patients with myocardial infarction than in the control group both in men (28.5 % vs. 22.0 %, P = 0.0001, OR 1.73, 95 % CI 1.36-2.19) and women (32.0 % vs. 24.6 %, P = 0.02, OR 1.62, 95 % CI 1.13-2.34). However, rs10757274 polymorphism was not associated with the classical risk factors either in control population or in ACS patients. We conclude that the rs10757274 variant at 9p23.1 is an important genetic risk factor for ACS development in the Czech population.
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Síndrome Coronario Agudo/genética , Cromosomas Humanos Par 9/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Adulto , Anciano , Estudios de Casos y Controles , República Checa , Femenino , Frecuencia de los Genes/genética , Marcadores Genéticos , Humanos , Masculino , Persona de Mediana Edad , Modelos Genéticos , Polimorfismo de Nucleótido Simple/genética , Reproducibilidad de los Resultados , Factores de RiesgoRESUMEN
The INSIG2 (INSIG2 is primarily involved in the regulation of fatty acid and cholesterol synthesis) gene is suggested to be obesity related. An INSIG2 promoter variant, G-102A, has been detected and was demonstrated to be of potential functional significance. In two cohorts of middle-aged men, the association between this variant and BMI was suggested. We sought to replicate the association between the INSIG2 G-102A variant and BMI in three large Slavonic Caucasian populations. Further, we analysed the possible effect of this variant on BMI changes in a short-time intervention study. One thousand ninety-nine males and 1368 females (population- based Czech MONICA three-year cohort), 908 females from the 3PMFs study, together with 94 overweight (BMI > 27 kg/m2) females who underwent nine weeks of dietary/exercise intervention were genotyped for the INSIG2 G-102A variant using PCR-RFLP analysis. We could not detect any association between the INSIG2 G-102A variant and BMI or WHR with or without adjusting for age and gender in any population. Neither the BMI change nor anthropometric and lipid parameter changes were affected by the INSIG2 G-102A gene variant in intervened overweight females. However, MONICA females (but not males) carrying the common GG genotype had higher plasma levels of HDL cholesterol (GG homozygotes 1.51 ± 0.36 mmol/l vs. A allele carriers 1.45 ± 0.33; P < 0.05) in both surveys. Our results indicated that the G-102A INSIG2 polymorphism has no consistent effect on BMI in general populations, but could influence HDL cholesterol in females.
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HDL-Colesterol/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Proteínas de la Membrana/genética , Regiones Promotoras Genéticas/genética , Adulto , Anciano , Alelos , Índice de Masa Corporal , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética , Población BlancaRESUMEN
Peripheral blood monocytes, which serve as precursors for tissue macrophages and dendritic cells (DC), play a key role in the immune response to kidney allograft, reparation processes and homeostasis regulation. In this prospective study, we used multicolor flow cytometry to monitor the phenotypic patterns of peripheral monocytes in subjects with uncomplicated outcomes and those with acute rejection. We found a reciprocal increase in the proportion of "classical monocytes" (CD14+CD16-) along with a decline in pro-inflammatory "intermediary" (CD14+CD16+) and "non-classical" (CD14lowCD16+) monocytes in subjects with normal outcomes. In subjects with acute rejection, we observed no reduction in "intermediary" monocytes and no increase in "classical" monocytes. Patients with uncomplicated outcomes exhibited downregulated HLA-DR in all three monocyte subpopulations. However, non-classical monocytes were unaffected in subjects with acute rejection. Expression of CD47 was downregulated after transplantation, while patients with antibody-mediated rejection and donor-specific antibodies showed higher pre-transplant values. In monocytes isolated at the time of biopsy, CD47 expression was higher in individuals with acute rejection compared to patients with normal outcomes one year post-transplant. Expression of CD209 (DC-SIGN) and the proportion of CD163+CD206+ subpopulations were upregulated during the first week after kidney transplantation. CD209 was also upregulated in samples taken on the day of biopsy confirming acute rejection. Our data demonstrate that kidney allograft transplantation is associated with phenotypic changes in peripheral blood monocytes during acute rejection.
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Rechazo de Injerto/patología , Trasplante de Riñón/efectos adversos , Monocitos/patología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Rechazo de Injerto/etiología , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Estudios Prospectivos , Adulto JovenRESUMEN
Liver stiffness (LS) is a novel non-invasive parameter widely used in clinical hepatology. LS correlates with liver fibrosis stage in non-cirrhotic patients. In cirrhotic patients it also shows good correlation with Hepatic Venous Pressure Gradient (HVPG). Our aim was to assess the contribution of liver fibrosis and portal hypertension to LS in patients with advanced liver cirrhosis. Eighty-one liver transplant candidates with liver cirrhosis of various aetiologies underwent direct HVPG and LS measurement by 2D shear-wave elastography (Aixplorer Multiwave, Supersonic Imagine, France). Liver collagen content was assessed in the explanted liver as collagen proportionate area (CPA) and hydroxyproline content (HP). The studied cohort included predominantly patients with Child-Pugh class B and C (63/81, 77.8%), minority of patients were Child-Pugh A (18/81, 22.2%). LS showed the best correlation with HVPG (r=0.719, p< 0.001), correlation of LS with CPA (r=0.441, p< 0.001) and HP/Amino Acids (r=0.414, p< 0.001) was weaker. Both variables expressing liver collagen content showed good correlation with each other (r=0.574, p<0.001). Multiple linear regression identified the strongest association between LS and HVPG (p < 0.0001) and weaker association of LS with CPA (p = 0.01883). Stepwise modelling showed minimal increase in r2 after addition of CPA to HVPG (0.5073 vs. 0.5513). The derived formula expressing LS value formation is: LS = 2.48 + (1.29 x HVPG) + (0.26 x CPA). We conclude that LS is determined predominantly by HVPG in patients with advanced liver cirrhosis whereas contribution of liver collagen content is relatively low.
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Hipertensión Portal/fisiopatología , Cirrosis Hepática/patología , Hígado/patología , Presión Portal , Adulto , Anciano , Colágeno/análisis , Diagnóstico por Imagen de Elasticidad , Femenino , Humanos , Hipertensión Portal/diagnóstico , Hipertensión Portal/cirugía , Hígado/química , Hígado/diagnóstico por imagen , Hígado/cirugía , Cirrosis Hepática/metabolismo , Cirrosis Hepática/fisiopatología , Cirrosis Hepática/cirugía , Trasplante de Hígado , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Adulto JovenRESUMEN
Diabetic foot (DF) can develop in diabetic patients after organ transplantation (Tx) due to several factors including peripheral arterial disease (PAD), diabetic neuropathy and inappropriate DF prevention. Aim: To assess the occurrence of DF and associated risk factors in transplant patients. Methods: Fifty-seven diabetic patients were enrolled as part of this prospective study. All patients underwent organ Tx (01/2013-12/2015) and were followed up for minimum of 12 months up to a maximum of 50 months. Over the study period we evaluated DF incidence and identified a number of factors likely to influence DF development, including organ function, presence of late complications, PAD, history of DF, levels of physical activity before and after Tx, patient education and standards of DF prevention. Results: Active DF developed in 31.6% (18/57) of patients after organ Tx within 11 months on average (10.7 ± 8 months). The following factors significantly correlated with DF development: diabetes control (p = .0065), PAD (p<0.0001), transcutaneous oxygen pressure (TcPO2;p = .01), history of DF (p = .0031), deformities (p = .0021) and increased leisure-time physical activity (LTPA) before Tx (p = .037). However, based on logistic stepwise regression analysis, the only factors significantly associated with DF during the post-transplant period were: PAD, deformities and increased LTPA. Education was provided to patients periodically (2.6 ± 2.5 times) during the observation period. Although 94.7% of patients regularly inspected their feet (4.5 ± 2.9 times/week), only 26.3% of transplant patients used appropriate footwear. Conclusions: Incidence of DF was relatively high, affecting almost 1/3 of pancreas and kidney/pancreas recipients. The predominant risk factors were: presence of PAD, foot deformities and higher LTPA before Tx. Therefore, we recommend a programme involving more detailed vascular and physical examinations and more intensive education focusing on physical activity and DF prevention in at-risk patients before transplantation.
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BACKGROUND: Improving life expectancy is associated with increasing incidence of pancreatic cancer. We reviewed morbidity and mortality in patients aged 65 years and older undergoing curative intent surgery in two centers in the Czech Republic. METHODS: Data were retrieved by retrospective analysis of the medical records over the period 2000-2007. In total, 60 patients were included. The mean age was 71 years (median 70 years; range 65-85 years). Most patients (43, 72%) underwent hemipancreatoduodenectomy, combined in 4 with portomesenterial vessel resection. Twelve patients (20%) had distal pancreatectomy and 5 patients (8%) total pancreatectomy. RESULTS: Overall morbidity was 28%. Only 10 patients (18%) developed serious surgical complications in terms of pancreatic leak (5, 8%), biliary leak (2, 3%), and intra-abdominal inflammatory collection (4, 7%). Four patients (6.6%) died within 30 days. The 1-year survival was 62.8%. CONCLUSION: We can conclude that age per se is not a contraindication to surgery. Patient's overall general condition, co-existing co-morbidities, and ability to get over with any potential complications are more important. and IAP.
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Pancreatectomía/métodos , Neoplasias Pancreáticas/cirugía , Factores de Edad , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Esperanza de Vida , Masculino , Estadificación de Neoplasias , Pancreatectomía/efectos adversos , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/mortalidad , Complicaciones Posoperatorias , Estudios Retrospectivos , Factores de Riesgo , Tasa de SupervivenciaRESUMEN
The apoprotein E gene ranks among the most discussed candidate genes for cardiovascular disease. We studied whether the association between apoprotein E gene polymorphism and manifestation of acute coronary syndrome is modulated by the presence/absence of traditional cardiovascular risk factors. The population under study were 1066 patients (men under 65 years) admitted between 2006- 2009 to five coronary care units in Prague (GENetic DEtermination of Myocardial Infarction in Prague) and the control population (1066 age-matched men selected from the Czech population sample). The frequency of disadvantage genotype E4+ was significantly higher (P < 0.01) in acute coronary syndrome patients (22.38 %) than in controls (16.76 %). When the acute coronary syndrome group was step by step limited to non-smokers, non-diabetics and normotensive individuals, the odds ratio displayed a gradual increase from 1.35 (for the entire group) through 1.48 (non-smokers), 1.53 (non-smokers+non-diabetics) to 1.71 (non-smokers+non-diabetics+normotensives). The effect of the apoprotein E gene on the individual risk of acute coronary syndrome is nonhomogenous within the patient groups. This association of apoprotein E gene with acute coronary syndrome is strongly modified by the presence/absence of traditional cardiovascular factors of atherosclerosis in a high-risk Czech population.
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Apolipoproteínas E/genética , Enfermedad Coronaria/genética , Adulto , Anciano , Checoslovaquia , Femenino , Genotipo , Humanos , Lipoproteínas/sangre , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Factores de Riesgo , Fumar/efectos adversosRESUMEN
Heritability studies have estimated the genetically attributable part of body mass index variance to be in the range of 30-70 %. Rs7566650 (G>C) single-nucleotide polymorphism (SNP) near the promoter of the INSIG2 gene has been identified as associated with body mass index. The gene product of INSIG2 is involved in regulation of fatty acid and cholesterol synthesis. In order to replicate this association we have analysed 2,559 unrelated individuals of Slavonic Caucasian origin from the populationbased Czech MONICA 3-year cohort. Body mass index, waist-hip ratio and plasma lipids (total-cholesterol, HDL-cholesterol, triglycerides) were measured at two independent examinations within three years. We could not detect any association between the SNP rs7566605 and body mass index, waist-hip ratio or lipid parameters, both with or without adjusting for age and gender. Neither the body mass index change nor lipid changes were significantly affected by the INSIG2 gene variant. Our results indicated that this INSIG2 polymorphism has no significant effect on body mass index and plasma lipids in the Czech Slavonic population.
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Péptidos y Proteínas de Señalización Intracelular/genética , Lípidos/sangre , Proteínas de la Membrana/genética , Obesidad/sangre , Obesidad/genética , Polimorfismo Genético/genética , Regiones Promotoras Genéticas/genética , Adulto , Anciano , Índice de Masa Corporal , República Checa , Femenino , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Población Blanca/genéticaRESUMEN
Some studies have suggested that there could be an association between the duration of sleep in humans and development of the obesity. We have analyzed the group of the probands (n = 3970, 2038 males and 1932 females, aged 18-65 years), with permanent address in the Central or South Bohemia. We ascertained the relationship between the duration of their sleep (obtained per questionnaire) and body mass index, weight, height, the value of systolic and diastolic blood pressure, heart rate, waist and hip circumference, the values of total-, high density- and low density- cholesterol, thyroid hormone and body exercise performed. The optimal values of the body mass index (and optimal body weight) were associated with the duration of sleep 7 hours per night (P < 0.001). This association was found both in males and females and in both districts. Other anthropometrical and biochemical parameters were not associated with the sleep duration.
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Peso Corporal , Obesidad/etiología , Privación de Sueño/complicaciones , Sueño , Adolescente , Adulto , Anciano , Biomarcadores/sangre , Presión Sanguínea , Estatura , Índice de Masa Corporal , Femenino , Frecuencia Cardíaca , Humanos , Lípidos/sangre , Masculino , Persona de Mediana Edad , Obesidad/sangre , Obesidad/fisiopatología , Factores de Riesgo , Privación de Sueño/sangre , Privación de Sueño/fisiopatología , Encuestas y Cuestionarios , Hormonas Tiroideas/sangre , Factores de Tiempo , Circunferencia de la Cintura , Adulto JovenRESUMEN
The aldosterone synthase gene (CYP11B2) is an important candidate gene region in essential hypertension. We therefore studied the association of -344T/C polymorphism of the CYP11B2 gene with the presence and severity of hypertension in a case-control study. We studied 369 individuals, of whom 213 were hypertensive patients (139 controlled hypertensive, 74 resistant hypertensive) and 156 were healthy normotensive subjects. The -344T/C polymorphism of the CYP11B2 gene was determined using polymerase chain reaction - restriction fragment length polymorphism analysis. The distribution of genotypes in normotensive controls and hypertensive subjects were: TT 25.6 vs. 31.9 %, TC 51.9 vs. 57.3 % and CC 22.4 vs. 10.8 %. The -344T/C variant was associated with hypertension. Subjects carrying the -344T allele had a greater risk of hypertension compared to those having C allele (chi(2)=5.89, p<0.05). The frequency of CC genotype was significantly lower in hypertensive patients than in normotensive controls (chi(2)=9.44, p<0.01). A stepwise logistic regression analysis confirmed these findings. We did not find an association of -344T/C variant with the resistance of hypertensive patients to combination therapy, but we observed an association of -344T/C polymorphism of aldosterone synthase gene with increased risk of hypertension. These results support a potential role of -344T/C CYP11B2 gene polymorphism in genetic predisposition to develop hypertension.
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Presión Sanguínea/genética , Citocromo P-450 CYP11B2/genética , Hipertensión/genética , Polimorfismo Genético , Adulto , Anciano , Antihipertensivos/uso terapéutico , Presión Sanguínea/efectos de los fármacos , Estudios de Casos y Controles , Citocromo P-450 CYP11B2/metabolismo , República Checa , Resistencia a Medicamentos/genética , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Hipertensión/tratamiento farmacológico , Hipertensión/enzimología , Hipertensión/fisiopatología , Modelos Logísticos , Persona de Mediana Edad , Fenotipo , Regiones Promotoras Genéticas , Medición de Riesgo , Factores de Riesgo , Resultado del TratamientoRESUMEN
INTRODUCTION: Aortic allograft implantation into the aortic position in adults is standard procedure with some controversary. The most popular indication is bacterial endocarditis. We would like to present our midterm results. RESULTS: We implanted 61 allografts in 60 patients (between 10/2002 and 04/2008). Men were 46 (76.8%) and average age was 57 +/- 10.76 year. 30 days mortality was 9 people (15.0%, all with bacterial endocarditis). Late mortality 1 man (1.6%). Follow up 1-66 months, average 39.18 SD +/- 14.3 months, median 42 months. CONCLUSION: Implantation of aortic allograft into the aortic position is standard procedure with good midterm results. Relative high early mortality is dependent on preoperative status in patiens with acute bacterial endocarditis--all early death people were people with acute bacterial endocarditis and minimally one vital organ severe dysfunction.
Asunto(s)
Válvula Aórtica/trasplante , Endocarditis Bacteriana/cirugía , Enfermedades de las Válvulas Cardíacas/cirugía , Adulto , Anciano , Válvula Aórtica/fisiopatología , Válvula Aórtica/cirugía , Endocarditis Bacteriana/mortalidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reoperación , Tasa de Supervivencia , Trasplante Homólogo , Resultado del Tratamiento , Adulto JovenRESUMEN
BACKGROUND AND STUDY AIMS: Barrett's esophagus is a premalignant condition. The risk of developing high grade intraepithelial neoplasia (HGIN) or adenocarcinoma is currently a matter of debate. Due to several shortcomings, previous studies have probably overestimated the risk. The main aim of our study was to investigate the incidence of HGD and adenocarcinoma in a cohort of patients with Barrett's esophagus. PATIENTS AND METHODS: In a prospective, cohort study, all patients had intestinal metaplasia and macroscopic evidence of short- or long-segment (< 3 cm or > or = 3 cm) Barrett's esophagus. All patients underwent a standard protocol including regular endoscopies with biopsies and were treated with a proton pump inhibitor or antireflux surgery. RESULTS: A total of 135 patients underwent 623 endoscopies during 700 patient-years (mean follow-up 5.2 +/- 2.3 years). Simultaneous HGIN and adenocarcinoma were detected in two patients with long-segment Barrett's esophagus (1.5%; 2 and 6 years after the index endoscopy). Low grade intraepithelial neoplasia (LGIN) was detected in 25 patients (18.5%); in 11 of these patients (44%), LGIN was not confirmed in later biopsies. Our study shows an incidence of HGIN/adenocarcinoma of 1/350 patient-years. Endoscopic regression of Barrett's esophagus was seen in 20.7% of patients. CONCLUSION: The incidence of HGIN/adenocarcinoma is low in patients with adequately treated Barrett's esophagus. The annual risk of developing HGIN/adenocarcinoma is 0.21% (1.6% in long-segment Barrett's esophagus).
Asunto(s)
Adenocarcinoma/epidemiología , Esófago de Barrett/epidemiología , Carcinoma in Situ/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Comorbilidad , Endoscopía , Femenino , Infecciones por Helicobacter/epidemiología , Helicobacter pylori , Hernia Hiatal/epidemiología , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Medición de RiesgoRESUMEN
OBJECTIVE: To analyse data on psychomotor and cognitive development of children born after intracytoplasmic sperm injection (ICSI). DESIGN: Open cross-section clinical study. SETTING: Institute for the Care of Mother and Child, Prague and Department of Paediatrics, Charles University, 2nd Medical School and University Hospital Motol, Prague. METHODS: In 133 children (75 boys and 58 girls) psychological examination was made at the age range 11 months - 8.5 years in the years 2004-2006. All children were born after intracytoplasmic sperm injection (ICSI). Psychomotor development of children aged from 11 months to 3.5 years was assessed using the Bayley Scales (BSID-II). In older children, Global Intelligence McCarthy Test was used. RESULTS: In our sample of ICSI-children, no significantly higher incidence of children delayed in mental (cognitive) as well as in motor development has been found as compared with the population norms. However, the results indicate a significantly lower average value of the Psychomotor Developmental Index (PDI) in the group of younger children as compared with the given norm (92.3 +/- 13.9 versus 100 +/- 15; p<0.01). In the group of older children, lower average value of the General Cognitive Index (GCI), as compared with corrected population norm has been found (105.1 +/- 14.7 versus 110 +/- 16; p<0.05). In the group of twins, a significantly higher number of mild developmental disorders was ascertained on the contrary in the group of singletons (64.7% versus 333%; p<0.01) in our older children conceived by ICSI. CONCLUSION: The results indicate only mild lowering of some performances in our ICSI-children: in motor domain in younger children, and in cognitive domain in older children. Children from multiple pregnancies are at greater developmental risk than singletons.