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1.
BMC Nephrol ; 22(1): 316, 2021 09 23.
Artigo em Inglês | MEDLINE | ID: mdl-34556050

RESUMO

BACKGROUND: The low-density lipoprotein receptor (LDLR) plays a significant role in maintaining the cellular cholesterol homeostasis. Mutations in the LDLR gene can lead to a significant rise in plasma LDL levels that may result in an increased risk of atherosclerosis and coronary heart disease. The purpose of this study was to assess the potential association of the LDLR rs688 polymorphism with cardiovascular disease (CVD) in patients with end-stage kidney disease (ESKD) undergoing hemodialysis. METHODS: In this case-control study the polymorphism was genotyped by the allele specific PCR method in 800 patients with ESKD and 500 healthy controls. The genotype and allele distribution was compared in subgroups of patients with CVD (552) versus those without CVD (248). RESULTS: A significant difference was observed in genotype distribution among ESKD patients and healthy controls. The frequencies of the T allele and TT genotype in ESKD group were significantly higher, with OR (95% CI) 2.2 (1.87-2.6), p <  0.0001 and 5.84 (3.94-8.65), p <  0.0001, respectively. In the he ESKD cohort the distribution of the rs688 was compared between CVD+ and CVD- subgroups. A strong association of the polymorphism with the CVD risk was observed in this analysis. The frequencies of the T allele and TT genotype were significantly higher in CVD+ subgroup, with OR (95% CI) 3.4 (2.71-4.26), p <  0.0001 and 13.2 (7.87-22.09), p <  0.0001, respectively. A multivariate logistic regression analysis was performed to estimate the association between rs688 T variant and risk of CVD. After adjustment for age, sex, BMI, hypertension and diabetes, both CT and TT genotypes were associated with an increased risk of developing CVD in the dominant, recessive and codominant models of inheritance. No significant differences in serum LDL cholesterol levels were found when compared between genotypes. CONCLUSIONS: The present study is the first to demonstrate the association of the LDLR gene polymorphism with increased susceptibility to cardiovascular disease in ESKD patients. This finding needs further investigation to confirm that LDLR rs688 might be a novel genetic risk factor with some prognostic capacity for CVD in ESKD patients.


Assuntos
Doenças Cardiovasculares/genética , Predisposição Genética para Doença , Falência Renal Crônica/genética , Polimorfismo de Nucleotídeo Único , Receptores de LDL/genética , Idoso , Doenças Cardiovasculares/etiologia , Estudos de Casos e Controles , Feminino , Genótipo , Fatores de Risco de Doenças Cardíacas , Humanos , Falência Renal Crônica/complicações , Masculino , Pessoa de Meia-Idade
2.
Immunol Invest ; 47(2): 146-153, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29182400

RESUMO

OBJECTIVE: Diabetic peripheral neuropathy (DPN) is one of late complications of diabetes mellitus. The aim of this study was to evaluate the association between variable number tandem repeat (VNTR) polymorphism in intron 3 of interleukin-4 gene and risk of DPN. METHODS: We examined 926 T2DM patients and 420 healthy controls. In the patient group, 44% had DPN. Genomic DNA was isolated from all subjects and genotyped for the IL-4 VNTR polymorphism by polymerase chain reaction (PCR). RESULTS: No significant difference was observed in the frequency of minor P1 allele between T2DM patients and controls (OR 1.00, 95% CI 0.81-1.23, p = 0.988). The distribution of IL-4 VNTR polymorphism was compared between patients with DPN and those without it. The polymorphism was not significantly associated with DPN in studied subjects. In comparison of 406 T2DM patients with DPN and 520 patients without it, the OR (95% CI) for P1 allele was 0.82 (0.65-1.04), p = 0.10 and for P1P1 genotype 1.00 (0.53-1.89), p = 0.991. When two subgroups of patients with DPN, those with cardiovascular disease (CVD) and without CVD, were compared, subgroup with coexisting CVD had significantly higher frequency of P1 allele than patients without CVD, with odds ratio for the P1 allele 3.27 (95% CI 1.83-5.83), p = 0.0001. CONCLUSION: Our results demonstrated that VNTR polymorphism in the IL-4 gene is associated with DPN in type 2 diabetes patients with coexisting CVD.


Assuntos
Doenças Cardiovasculares/genética , Neuropatias Diabéticas/genética , Genótipo , Interleucina-4/genética , Íntrons/genética , Idoso , Doenças Cardiovasculares/epidemiologia , Comorbidade , Neuropatias Diabéticas/epidemiologia , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Repetições Minissatélites/genética , Polônia/epidemiologia , Polimorfismo Genético
3.
Cytokine ; 79: 7-11, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26702930

RESUMO

Interleukin-6 (IL-6) is an important pro-inflammatory cytokine of relevance to cardiovascular diseases. The aim of this case-control study was to evaluate the association between the G(-174)C functional polymorphism in the IL-6 gene and risk of cardiovascular disease (CVD) in type 2 diabetes patients. We examined 1090 patients with T2DM and 612 controls. All subjects were genotyped for the G(-174)C polymorphism by polymerase chain reaction (PCR) and restriction analysis. There were no significant differences in the distribution of genotypes and alleles between T2DM patients and healthy controls. Significantly higher C allele frequency was observed in CVD+ patients compared to CVD- subgroup (53% vs. 32%, p<0.0001). The odds ratio for C allele was 2.4 (95% CI 1.99-2.9, p<0.0001) and for CC genotype 4.55 (95% CI 3.12-6.63, p<0.000). When the distribution of G(-174)C polymorphism was compared in subgroups with different clinical phenotypes of CVD, a significant association of CC genotype with myocardial infarction was observed. Forty eight percent of patients with MI had the CC genotype compared to 22% of patients without MI (p<0.0001). In conclusion, type 2 diabetes patients carrying the C allele of the IL-6 G(-174)C polymorphism have a significantly increased risk of CVD.


Assuntos
Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Interleucina-6/genética , Infarto do Miocárdio/genética , Polimorfismo de Nucleotídeo Único/genética , Idoso , Alelos , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Fatores de Risco
4.
Blood Purif ; 42(3): 177-85, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27304052

RESUMO

BACKGROUND/AIMS: Various body-regulating mechanisms try to counteract rapid changes in serum phosphate levels during hemodialysis (HD). Neither recently proposed nor other existing standard compartment models are able to capture clinically observed intradialytic serum phosphate rebound. METHODS: Phosphate serum concentration was frequently measured during 75 HD sessions in 25 patients. Time delay was introduced into the standard pseudo one-compartment model in order to reflect the time needed for the body-regulating mechanism to affect serum phosphate level. RESULTS: Measured serum phosphate concentration at the end of 4 h dialysis session was on average larger than 1 h earlier (p value = 0.015). The model with time delay reproduced successfully 19 out of 21 and 9 out of 10 sessions with and without recorded intradialytic rebound, respectively. CONCLUSION: The intradialytic serum phosphate rebound is associated with the time delay reflecting efficacy of body-regulating mechanisms, that is, the larger the delay the larger is the intradialytic rebound.


Assuntos
Falência Renal Crônica/sangue , Diálise Renal , Humanos , Cinética , Modelos Biológicos , Fosfatos/sangue
5.
Przegl Lek ; 73(9): 680-3, 2016.
Artigo em Polonês | MEDLINE | ID: mdl-29688682

RESUMO

Acquired perforating dermatosis (APD) represents a heterogenous group of skin disorders characterized histopathologically by transepithelial elimination (TEE) of dermal structures. APD is manifested clinically as multi-localized, papulo-nodular skin lesions accompanied by a refractory pruritus. APD typically coexists with long-term disorders, most often diabetic kidney disease (DKD). The paper presents a case of a 56-year-old male patient with chronic kidney disease (CKD) and concomitant acquired reactive perforating collagenosis (ARPC), which is a subtype of APD. Etiological theories of ARPC as well as current diagnostic and treatment principles in dermatosis were described. On the basis of the presented case report and the literature review attention was paid to diagnostic difficulties associated with APD. The assumption was made that APD can be an underdiagnosed disease and thus it is not treated correctly. According to the authors' opinion, this is an important circumstance to popularize the knowledge about APD.


Assuntos
Doenças do Colágeno/etiologia , Insuficiência Renal Crônica/complicações , Dermatopatias/etiologia , Doenças do Colágeno/diagnóstico , Doenças do Colágeno/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Dermatopatias/diagnóstico , Dermatopatias/patologia
6.
Reumatologia ; 54(2): 86-90, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27407286

RESUMO

Granulomatosis with polyangiitis (GPA) is a systemic necrotizing vasculitis of unknown aetiology, often related to the antineutrophil cytoplasmic antibody (ANCA). GPA was previously named Wegener's granulomatosis (WG). The disease frequently has multisystemic presentation, targeting mainly the respiratory tract and kidneys, but gastrointestinal involvement is uncommon. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with many extraintestinal manifestations. Clinically, symptoms of WG and CD can mimic each other. In this paper a case of GPA manifested initially by severe multiorgan damage including colitis, regarded to be coexistent CD, is presented. The case illustrates the difficulties in establishing the diagnosis when symptoms of the diseases mimic each other.

7.
Nephrol Dial Transplant ; 30(1): 129-36, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25140013

RESUMO

BACKGROUND: The specific distribution of phosphate and the control mechanisms for its plasma level makes phosphate kinetics during haemodialysis (HD) considerably different from those of urea and creatinine and makes the quantitative evaluation of adequacy of phosphate removal difficult. We propose the application of equivalent continuous clearance (ECC) as a phosphate adequacy parameter and compare it with ECC for creatinine and urea. METHODS: Three consecutive dialysis sessions were evaluated for 25 patients on maintenance HD. Concentrations of phosphate, urea and creatinine in plasma were measured every 1h during the treatment and 45 min after, and every 30 min in dialysate. ECC was calculated using the removed solute mass assessed in dialysate and weekly solute profile in plasma. Similar calculations were performed also for the midweek dialysis session only. Different versions of the reference concentration for ECC were applied. RESULTS: ECC with peak average reference concentration was 5.4 ± 1.0 for phosphate, 7.0 ± 1.0 for urea and 4.7 ± 1.0 mL/min for creatinine. ECC for urea and creatinine were well correlated in contrast to the correlations of ECC for phosphate versus urea and creatinine. Midweek ECC were higher than weekly ECC, but they were well correlated for urea and creatinine, but only weakly for phosphate. CONCLUSIONS: HD adequacy monitoring for phosphate may be performed using ECC, but it is less predictable than similar indices for urea and creatinine. The values of ECC for phosphate are within the range expected for its molecular size compared with those for urea and creatinine.


Assuntos
Creatinina/sangue , Soluções para Diálise/análise , Fosfatos/sangue , Diálise Renal/normas , Ureia/sangue , Feminino , Humanos , Cinética , Masculino , Pessoa de Meia-Idade
8.
Clin Exp Nephrol ; 19(6): 1157-64, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25724127

RESUMO

BACKGROUND: Given that cardiac disease is the leading cause of mortality in hemodialysis (HD) patients, identification of patients at risk for cardiac mortality is crucial. The aim of this study was to determine if positive T-wave amplitude in lead aVR (TaVR) was predictive of cardiovascular (CV) mortality and sudden cardiac death (SCD) in a group of HD patients. METHODS AND RESULTS: After exclusion, 223 HD patients were prospectively followed-up for 25.43 ± 3.56 months. Patients were divided into TaVR negative (n = 186) and TaVR positive (n = 37) groups. Myocardial infarction, diabetes and beta-blocker therapy were more frequent in positive TaVR patients. Patients with upright TaVR were older, had higher left ventricular mass index, lower ejection fraction, higher calcium × phosphate product, higher troponin T level, higher prevalence of ST-T abnormalities, and increased width of QRS complex and QT interval, compared with patients with negative TaVR. A Kaplan-Meier analysis showed that the cumulative incidences of CV mortality as well as SCD were higher in patients with positive TaVR compared with those with negative TaVR (log-rank, p < 0.001 in both cases). A multivariate analysis selected age [hazard ratio (HR) 1.71, p < 0.001], heart rate (HR 1.42, p = 0.016), and positive TaVR (HR 2.21, p = 0.001) as well as age (HR 1.88, p < 0.001), and positive TaVR (HR 1.53, p = 0.014) as independent predictors of CV mortality and SCD, respectively. CONCLUSION: In HD patients, positive TaVR is an independent and powerful predictor of CV mortality as well as SCD. This simple ECG parameter provides additional information beyond what is available with other known traditional risk factors and allows the identification of patients most at risk of CV events.


Assuntos
Doenças Cardiovasculares/mortalidade , Morte Súbita Cardíaca/epidemiologia , Eletrocardiografia , Diálise Renal , Insuficiência Renal Crônica/mortalidade , Antagonistas Adrenérgicos beta/uso terapêutico , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/diagnóstico por imagem , Doenças Cardiovasculares/etiologia , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/mortalidade , Feminino , Seguimentos , Testes de Função Cardíaca , Humanos , Estimativa de Kaplan-Meier , Síndrome do QT Longo/etiologia , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/epidemiologia , Infarto do Miocárdio/mortalidade , Prognóstico , Estudos Prospectivos , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/terapia , Análise de Sobrevida , Ultrassonografia
9.
Artif Organs ; 39(12): 1005-14, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25994493

RESUMO

Both hyperphosphatemia and hypophosphatemia are associated with increased morbidity and mortality among patients on dialysis. The control of serum phosphate concentration is a considerable clinical problem. Our study aimed to improve understanding of phosphate kinetics in patients on dialysis using mathematical modeling. Three consecutive hemodialysis sessions with breaks of 2-2-3 days were monitored in 25 patients. Phosphate concentration was measured every hour and 45 min after the end of dialysis in blood serum and every 30 min in dialysate during each session. Volume of fluid compartments and body composition were assessed by bioimpedance. The pseudo one-compartment model was applied to describe the profile of phosphate in blood serum during intra- and interdialytic periods of 1-week cycle of three hemodialysis sessions. Model parameters, such as phosphate internal clearance (KM ) and the rate of phosphate mobilization (RM ), were correlated with the reduction of serum phosphate concentration during dialysis (Cpost /Cpre ) and with equivalent continuous clearance (ECC) for phosphate. KM correlated negatively with predialysis serum phosphate concentration. There was significant positive correlation between RM and age. Postdialysis volume of phosphate central compartment was lower than, but correlated to, extracellular water volume. Parameters of the pseudo one-compartment model, phosphate internal clearance, and the rate of phosphate inflow to the central compartment (the one accessible for dialysis) from other phosphate body reservoirs correlated with the indices of dialysis adequacy, such as reduction of serum phosphate and ECC. The pseudo one-compartment model can be successfully extended from a single hemodialysis to the standard weekly cycle of sessions and the model parameters strongly correlate with the adequacy parameters of dialytic removal of phosphate.


Assuntos
Soluções para Hemodiálise/administração & dosagem , Hiperfosfatemia/sangue , Hipofosfatemia/sangue , Modelos Biológicos , Fosfatos/sangue , Diálise Renal , Idoso , Biomarcadores/sangue , Composição Corporal , Impedância Elétrica , Feminino , Soluções para Hemodiálise/efeitos adversos , Soluções para Hemodiálise/metabolismo , Humanos , Hiperfosfatemia/diagnóstico , Hiperfosfatemia/etiologia , Hiperfosfatemia/prevenção & controle , Hipofosfatemia/diagnóstico , Hipofosfatemia/etiologia , Hipofosfatemia/prevenção & controle , Cinética , Masculino , Pessoa de Meia-Idade , Diálise Renal/efeitos adversos
10.
Pol Merkur Lekarski ; 36(213): 171-4, 2014 Mar.
Artigo em Polonês | MEDLINE | ID: mdl-24779214

RESUMO

UNLABELLED: Idiopathic membranous nephropathy (IMN) is a chronic glomerular disease. It is result of new discovery that the production of anti-PLA2R autoantibodies, reacting with phospholipase A2 receptor on the surface of podocytes. Specific antibodies occur in IMN patients blood in exacerbated of disease, and disappear during remission. It suggest that analyse of these parameter can prove quick diagnosis to recognize and monitoring treatment process. The aim of our work was to determine anti-PLA2R in patients with suspected IMN and persons during/after treatment in order to monitor the effectiveness of therapy. MATERIAL AND METHODS: The study group consisted of 22 patients. Patients were divided into two groups: Group A--patients with symptomatic nephrotic syndrome in the course of membranous nephropathy; Group B--patients diagnosed with IMN who monitored the effectiveness of therapy. We collected the serum samples for all patients and determined of anti-PLA2R autoantibodies by indirect immunofluorescence test. RESULTS: Antibodies were detected in 12 patients (54.54%): diagnosed (n = 5) and monitor (n = 7). All of patients with exacerbated disease process in monitored group had positive test results. CONCLUSIONS: Our data suggest that anti-PLA2R is a sensitive diagnostic method and good for monitoring of disease activity, but nevertheless a need for further research on a larger group of patients to confirm that the test is a reliable source of diagnostic information.


Assuntos
Autoanticorpos/sangue , Glomerulonefrite Membranosa/sangue , Glomerulonefrite Membranosa/diagnóstico , Receptores da Fosfolipase A2/imunologia , Adulto , Idoso , Biomarcadores/sangue , Feminino , Glomerulonefrite Membranosa/complicações , Glomerulonefrite Membranosa/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/sangue , Síndrome Nefrótica/complicações , Síndrome Nefrótica/imunologia
11.
Immunol Invest ; 42(1): 1-17, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23231042

RESUMO

This study we examined ex vivo potential of the immune response after stimulation of whole blood with L. pneumophila SG 1, SG 2-14 and L. pneumophila standard strain ATCC 33152 in immunocompromised patients, such as: hemodialysis patients and patients after renal transplantation. The levels of TNF-α and IFN-γ in supernatants were measured with the use of commercial ELISA kits. The synthesis of TNF-α and IFN-γ after stimulation with L. pneumophila were analyzed in two aspects: differentiated stimulatory activity in relation to SG 1, SG 2-14 and ATCC 33152 L. pneumophila and differentiated response of the hemodialysis patients and patients after renal transplantation in relation to the control group. The positive and negative results of anti-L. pneumophila antibodies of two groups of our patients were found for the analysis of the stimulatory activity of L.pneumophila as a primary or secondary response. In patients with immunosuppression the response in the secretion of cytokines (TNF-α and IFN-γ) was reduced after stimulation of L. pneumophila SG 1 but in varying degrees after stimulation of L. pneumophila SG 2-14, which indicates that the risk of the infection is varied.


Assuntos
Células Sanguíneas/imunologia , Imunização/métodos , Hospedeiro Imunocomprometido/imunologia , Interferon gama/metabolismo , Legionella pneumophila/imunologia , Diálise Renal , Fator de Necrose Tumoral alfa/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Células Cultivadas , Feminino , Humanos , Transplante de Rim , Masculino , Pessoa de Meia-Idade , Adulto Jovem
12.
BMC Musculoskelet Disord ; 14: 264, 2013 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-24025446

RESUMO

BACKGROUND: The etiology of osteonecrosis of femoral head (ONFH) has not been fully elucidated. Increased intravascular coagulation and/or hypofibrinolysis have been proposed as pathogenic mechanisms. Previous reports demonstrated significant association between incidence of ONFH and polymorphisms of genes related with thrombophilia especially in Caucasian subjects. The aim of our study was to evaluate the relationship between genetic mutations leading to coagulation disorders and ONFH in Polish patients. METHODS: We have investigated the frequencies of four markers among 68 unrelated individuals with clinically and radiographically documented ONFH and among 100 healthy unrelated blood donors in Eastern part of Poland. The three genes were involved in thrombophilia: factor V Leiden (G1691A), prothrombin (G20210A), Methylenetetrahydrofolate Reductase (MTHFR C677T) and one in hypofibrinolysis: Tissue Plasminogen Activator (PLAT TPA25 I/D). The samples were genotyped with polymerase chain reaction followed by restriction enzyme analysis for the restriction fragment length polymorphisms. The allele and genotype frequencies were analyzed in the relation to ONFH etiology (idiopathic and secondary), gender, age (patients younger or older than 50 years) and the number of affected joints (unilateral or bilateral ONFH). RESULTS: No significant difference in allele frequencies between patients and control groups were observed in genes involved in thrombophilia. We have found a statistically significant increased frequency of D allele of PLAT TPA 25 I/D polymorphism between the entire group of patients with ONFH and controls (p=0,026, OR=1,54, CI 0,99-2,4). D allele frequency was also significantly increased in patients with primary ONFH (p=0,009, OR=1,81 CI 1,1-3,01), in males (p= 0,013; OR 1,74; 95% CIs 1,08-2,78), patients older than 50 years (p= 0,018, OR= 2,04; 95% CIs 1,09-3,82) and in cases with bilateral ONFH (p= 0,01; OR= 1,92; 95% CIs 1,13-3,27) (Table 9). The differences in DD homozygous genotype frequency were statistically significant for patients with idiopathic ONFH compared with control group (p=0,023, OR=2,75, CI 0,99-7,9) and in cases of bilateral ONFH (p=0,034; OR 3,12; 95% CIs 1,06-9,18) (Table 10). The frequencies of ID heterozygous genotype were statistically significantly higher in entire group of patients with ONFH (p=0,004 OR 2,71; 95% CIs 1,32-5,57), idiopathic ONFH (p= 0,01; OR 2,91; 95% CIs 1,24-6,87), males (p=0,0007; OR 3,75; 95% CIs 1,67-8,42), patients older than 50 years (p=0,001; OR 6,89; 95% CIs 1,87-25,84) and in cases with bilateral ONFH (p=0,009; OR 3,19; 95% CIs 1,26-8,03). CONCLUSION: The results suggest that inherited hypofibrinolysis is a risk factor of idiopathic ONFH in Polish population.


Assuntos
Necrose da Cabeça do Fêmur/genética , Fibrinólise/genética , Polimorfismo Genético , Trombofilia/genética , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Fator V/genética , Feminino , Necrose da Cabeça do Fêmur/sangue , Necrose da Cabeça do Fêmur/diagnóstico , Necrose da Cabeça do Fêmur/epidemiologia , Frequência do Gene , Predisposição Genética para Doença , Heterozigoto , Homozigoto , Humanos , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Pessoa de Meia-Idade , Razão de Chances , Polônia/epidemiologia , Prevalência , Protrombina/genética , Fatores de Risco , Trombofilia/sangue , Trombofilia/diagnóstico , Trombofilia/epidemiologia , Ativador de Plasminogênio Tecidual/genética , Adulto Jovem
13.
Int Orthop ; 37(7): 1381-5, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23604198

RESUMO

PURPOSE: Nitric oxide (NO) synthesised by endothelial NO synthase (eNOS) is a potent regulator of internal haemodynamics. A polymorphism in intron 4 of the eNOS is associated with different vascular disorders. We investigated the potential involvement of this polymorphism in idiopathic and secondary osteonecrosis of the femoral head (ONFH) in Polish patients. METHODS: We performed a study involving 68 patients with ONFH (45 idiopathic and 23 secondary) and 100 healthy controls. All subjects were genotyped for the eNOS4 polymorphism by the polymerase chain reaction followed by agarose gel electrophoresis. RESULTS: The analysis revealed that the frequencies of eNOS4 genotypes were significantly different in ONFH patients (both idiopathic and secondary) than in controls. The frequencies of the 4a allele were significantly higher in the total group of patients versus controls [22.79 vs 9%, p = 0.00039, odds ratio (OR) 2.98]. In subgroup analysis the 4a allele increased significantly in both idiopathic (20 vs 9%, p = 0.0074, OR = 2.52) and secondary (28.26 vs 9%, p = 0.00047, OR = 3.98) ONFH patients compared to control subjects. The frequency of the 4a/b genotype in the total group of patients (36.76 vs 16%, p = 0.0011, OR = 3.24) as well as patients with idiopathic (35.56 vs 16%, p = 0.0069, OR = 2.96) and secondary (39.13 vs 16 %, p = 0.0073, OR = 3.89) ONFH was higher than in the control group. CONCLUSIONS: There was a significantly higher frequency of eNOS 4a allele carriers among the total group of patients as well as in idiopathic and secondary ONFH. This suggests that the eNOS gene polymorphism may be associated with increased risk of ONFH.


Assuntos
Necrose da Cabeça do Fêmur/genética , Íntrons/genética , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo Genético/genética , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Necrose da Cabeça do Fêmur/epidemiologia , Necrose da Cabeça do Fêmur/etnologia , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polônia , Fatores de Risco , Adulto Jovem
14.
Nephrol Dial Transplant ; 27(11): 4162-6, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21617193

RESUMO

BACKGROUND: Renalase is a novel flavin adenine dinucleotide-dependent amine oxidase that is secreted by the kidney. It circulates in the blood and modulates the cardiac function and systemic blood pressure. Insufficiency of renalase in patients with chronic kidney disease may explain the frequent occurrence of hypertension among patients with end-stage renal disease (ESRD) and an increased risk of cardiovascular events in this group. The aim of the study was to assess the relationship of two renalase gene polymorphisms with hypertension in dialysed patients. METHODS: Rs2576178 polymorphism was genotyped in 369 patients, rs10887800 polymorphism was genotyped in 421 dialysed patients, using polymerase chain reaction (PCR) and subsequent cleavage with Msp I and Pst I restriction endonucleases. RESULTS: Genotype distribution and allele frequencies of rs2576178 polymorphism were compared in the following subgroups of patients: dialysed patients with hypertension: ESRD HY + (n = 200) and dialysed patients without hypertension: ESRD HY - (n = 169). There was a significant difference in the frequency of the G allele carriers. G allele carriers were associated with a 1.55 times higher risk of hypertension [odds ratio (OR) = 1.55; 95% confidence interval (CI): 1.023-2.357, P = 0.039]. Distribution of genotypes and frequencies of alleles of rs10887800 polymorphism were compared in the following subgroups of patients: ESRD HY + (n = 278) and ESRD HY - (n = 143). The G allele carriers were recognized with a significantly higher frequency in ESRD HY + patients (0.46 in ESRD HY + versus 0.37 in ESRD HY - ) [OR = 1.76; 95% CI: (1.159-2.667, P = 0.008)]. CONCLUSIONS: Our results are the first to suggest an association between renalase gene polymorphisms analysed and hypertension in dialysed patients. It may be an important step towards gaining a deeper insight into cardiovascular pathophysiology. Furthermore, it might provide an optimal treatment and better prognosis for patients with chronic kidney disease.


Assuntos
Predisposição Genética para Doença , Hipertensão/genética , Falência Renal Crônica/complicações , Falência Renal Crônica/enzimologia , Monoaminoxidase/genética , Adulto , Idoso , Feminino , Humanos , Hipertensão/etiologia , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Monoaminoxidase/deficiência , Polimorfismo de Nucleotídeo Único , Diálise Renal
15.
BMC Cardiovasc Disord ; 12: 100, 2012 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-23122326

RESUMO

BACKGROUND: This study was performed to investigate the relationship between elastic properties of aorta and left atrium volume index (LAVI) in hemodialyzed (HD) patients. METHODS: Study group was consisted of 73 patients (age 51,6 ± 7,6 years) treated by hemodialysis. In all patients standard echocardiography was performed. Aortic stiffness index (ASI) was calculated using formula: ASI = log (SBP/DBP)/[(Aomax-Aomin)/Aomin]. LAVI was calculated according to the formula: LAVI = [π/6 x (LAmax x LAshort x LAlong)]/m(2). Additionally several indices were calculated: left ventricle mass (LVM), left ventricle mass index (LVMI), midwall fractional shortening (mFS), endsystolic stress (ESS), mFS/ESS. Additionally the laboratory parameters including lipidogram, troponin T (cTnT), NT-proBNP and asymmetric dimethylarginine (ADMA) were measured. RESULTS: The ASI was strong and significantly correlated with left atrium volume (LAV) and LAVI (respectively: 0,601; p < 0,001 and 0,598; p < 0,001). The ASI was independently and markedly associated with ADMA, cTnT, CRP, T-chol, and LDL-chol. The LAVI was independently and significantly correlated with NT-proBNP and cTnT. CONCLUSIONS: There is correlation between ASI and ADMA, marker of endothelium dysfunction. There is also association between LAVI and NT-proBNP, signs of elevated left atrium pressure. The strong correlation between ASI and LAVI, improved by associations of specific biochemical markers with these echocardiographic indices, suggests there is the link between elastic properties of aorta and left atrium pressure in hemodialysed patients mediated by endothelial dysfunction.


Assuntos
Endotélio Vascular/fisiologia , Átrios do Coração/patologia , Diálise Renal , Rigidez Vascular , Adulto , Idoso , Arginina/análogos & derivados , Arginina/sangue , Estudos Transversais , Ecocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Peptídeo Natriurético Encefálico/sangue , Óxido Nítrico/biossíntese , Fragmentos de Peptídeos/sangue , Troponina T/sangue
16.
ScientificWorldJournal ; 2012: 947907, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22566784

RESUMO

AIM: Study was designed to assess relationship between aortic compliance and homogeneity of heart electrical activity in dialysis patients. METHODS: Study group was consisted of 120 dialyzed patients; 57 (age 50,7 ± 7,1) were on continuous ambulatory peritoneal dialysis (CAPD) and 73 (age 51,6 ± 7,6) were hemodialyzed (HD). Three-dimensional vectorocardiographic (VCG) monitoring was done to assess: QRS-T(angle), T(el) and T(az). Echocardiography was performed to assess: Ao(max), Ao(min), ASI (aortic siffness index). RESULTS: ASI in HD as well as in CAPD patients was significantly higher compared to controls [resp., 5,51 (±1,32), 5,83 (±1,41), 3,07 (±1,09)]. Cut-off value of ASI was 5,67. In HD patients strong correlations between ASI and QRS-T(angle), T(el) and T(az) were determined (resp., r = 0,429, P < 0,001; r = 0,432, P ≤ 0,001 and r = 0,387, P = 0,001). In CAPD group were significant association between ASI and QRS-T(angle), T(el) and T(az) (resp., r = 0,452, P < 0,001; r = 0,417, P < 0,001 and r = 0,390, P = 0,001). ASI was independently and markedly associated with: QRS-T(angle), T(elev), T(az), ADMA, cTnT, CRP, Total-chol, LDL-chol in HD and CAPD patients. CONCLUSIONS: ASI and VCG indices are higher in HD and CAPD patients. Correlation between ASI and VCG parameters may reflect unfavourable influence of poor aortic compliance on the electrical activity of the heart in dialyzed patients. Hypertrophy aggravates repolarization disturbances in hemodialyzed patients.


Assuntos
Coração/fisiopatologia , Hipertrofia Ventricular Esquerda/patologia , Rigidez Vascular , Vetorcardiografia/métodos , Adulto , Velocidade do Fluxo Sanguíneo , Determinação da Pressão Arterial/métodos , Estudos de Casos e Controles , Fenômenos Eletrofisiológicos , Feminino , Testes de Função Cardíaca , Frequência Cardíaca , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Diálise Peritoneal Ambulatorial Contínua/métodos , Diálise Renal/métodos , Reprodutibilidade dos Testes , Fatores de Tempo , Troponina T/sangue
17.
Tumour Biol ; 32(4): 769-76, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21559780

RESUMO

Alterations in microRNAs expression have been proposed to play role in endometrial cancer pathogenesis. Dicer and Drosha are main regulators of microRNA biogenesis and deregulation of their expression has been indicated as a possible cause of microRNAs alterations observed in various cancers. The objective of this study was to investigate Dicer and Drosha genes expression in endometrial cancer and to analyze the impact of clinicopathological characteristics on their expression. Fresh tissue samples were collected from 44 patients (26 endometroid endometrial carcinoma and 18 controls). Clinical and pathological data were acquired from medical documentation. Dicer and Drosha genes expressions were assessed by qRT-PCR using validated reference genes. Dicer and Drosha expression levels were significantly lower in endometrial cancer samples comparing to controls. Dicer was down-regulated by the factor of 1.54 (p=0.009) and Drosha gene mean expression value was 1.4 times lower in endometrial cancer group versus control group (p=0.008). Down-regulation of Dicer significantly correlated with decreased expression of Drosha (coefficient value 0.75). Decreased expression of Drosha correlated with higher histological grade and was influenced by BMI. Lower Dicer expression was found in nulli- and uniparous females comparing to multiparous individuals (p=0.002). Neither the FIGO stage nor the menstrual status had significant influence on the expression of studied genes. This study revealed for the first time that expression alterations of main regulators of microRNAs biogenesis are present in endometrial cancer tissue and could be potentially responsible for altered microRNAs profiles observed in this malignancy.


Assuntos
Neoplasias do Endométrio/genética , Regulação Neoplásica da Expressão Gênica/genética , MicroRNAs/biossíntese , Ribonuclease III/genética , Regulação para Baixo , Neoplasias do Endométrio/metabolismo , Neoplasias do Endométrio/patologia , Feminino , Expressão Gênica , Perfilação da Expressão Gênica , Humanos , MicroRNAs/genética , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Ribonuclease III/biossíntese
18.
Psychiatr Pol ; 45(2): 187-95, 2011.
Artigo em Polonês | MEDLINE | ID: mdl-21714208

RESUMO

AIM: The depressive symptoms are common in patients with end-stage kidney disease but they are often undiagnosed and can complicate the renal replacement therapy. The aim of this study was to identify significant differences in frequency and severity of depressive symptoms among patients with end-stage renal disease depending on what form of treatment they are undergoing--hemodialysis, peritoneal dialysis and patients after kidney transplantation. METHODS: 323 patients with end-stage renal failure were examined. Among them 206 patients were hemodialysed, 64--undergoing the peritoneal dialysis and 53 patients were the recipients of kidney transplants. We used a self-constructed questionnaire and Beck Depression Inventory (BDI). RESULTS: Beck Depression Inventory reflects mild and moderate intensification of symptoms. The results obtained by the use of BDI show the mild and moderate intensification of the depressive symptoms in the study group. The majority of patients suffering from depression were found in the group of patients undergoing peritoneal dialysis, to a lesser degree in the hemodialysis subgroup and among these, depression had moderate intensity. Patients after kidney transplantation were found to be at a smaller risk of depression comparing to dialysed patients. CONCLUSIONS: End-stage renal disease may affect the occurrence of depressive symptoms, the treatment may also play a role in the formation and intensity. We formulated the conclusions of our study carefully, taking into account a multitude of other existing causal factors.


Assuntos
Depressão/epidemiologia , Falência Renal Crônica/epidemiologia , Falência Renal Crônica/psicologia , Índice de Gravidade de Doença , Atitude Frente a Saúde , Estudos de Coortes , Comorbidade , Depressão/diagnóstico , Feminino , Humanos , Masculino , Diálise Peritoneal/estatística & dados numéricos , Polônia/epidemiologia , Prevalência , Diálise Renal/estatística & dados numéricos , Fatores de Risco , Inquéritos e Questionários
19.
Nephrol Dial Transplant ; 25(11): 3723-9, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20466688

RESUMO

BACKGROUND: Abnormal values of the spatial angle between the directions of ventricular depolarization and repolarization (QRS-T) reflect the action potential inhomogeneities and predict cardiac events and mortality in various patient groups. The study was designed to (i) compare QRS-T in haemodialysis (HD) patients and healthy subjects, (ii) assess the influence of HD on QRS-T and (iii) evaluate the possible associations between QRS-T and echocardiography, haemodynamic as well as biochemical parameters. METHODS: The angular differences between the maximum spatial QRS and T vectors were measured in 73 HD patients and in 57 controls. QRS-T in patients was estimated pre- and post-dialysis together with the evaluation of blood chemistry and haemodynamic parameters. RESULTS: Pre-dialysis QRS-T was higher compared with controls (30.18 ± 9.84 and 13.65 ± 7.23, respectively; P < 0.001). HD induced an increase of QRS-T (41.09 ± 11.74; P < 0.001). Pre-dialysis QRS-T adjusted for left ventricular mass index correlated with troponin T (r = 0.398, P = 0.001) and HDL (r = -0.270, P = 0.043). The differences between pre- and post-dialysis (Δ) QRS-T correlated with Δ potassium (r = 0.453, P < 0.001), Δ calcium (r = -0.309, P = 0.011) and Δ stroke index (SI; r = 0.311, P = 0.017). On multivariate analysis, troponin T was found to be an independent predictor of pre-dialysis QRS-T, whereas independent predictors of the HD-induced increase in QRS-T were potassium and cardiac index changes. CONCLUSIONS: QRS-T is high in HD patients. HD enhances the inhomogeneities of action potential. Pre-dialysis QRS-T is mainly associated with troponin T elevation. HD-induced increase in QRS-T is mainly associated with potassium and SI changes. The possible clinical importance of the higher QRS-T in HD patients remains to be confirmed in further studies.


Assuntos
Eletrocardiografia , Diálise Renal , Adulto , Feminino , Humanos , Hipertrofia Ventricular Esquerda/etiologia , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Troponina T/sangue
20.
Przegl Lek ; 67(3): 222-4, 2010.
Artigo em Polonês | MEDLINE | ID: mdl-20687389

RESUMO

Bartter syndrome represents the group of renal disturbances characterized by hypokaliemia and metabolic alkalosis. Some diseases could display hypokalemic metabolic alkalosis without primary tubular dysfunction. These disorders are called pseudo-Bartter syndrome. In this paper we present 2 cases of pseudo-Bartter syndrome related among to other things to overuse of diuretic drugs.


Assuntos
Síndrome de Bartter/induzido quimicamente , Síndrome de Bartter/diagnóstico , Diuréticos/efeitos adversos , Adulto , Síndrome de Bartter/terapia , Feminino , Furosemida/efeitos adversos , Humanos , Masculino , Pessoa de Meia-Idade , Insuficiência Renal Crônica/complicações , Transtornos Relacionados ao Uso de Substâncias/complicações
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