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1.
Per Med ; 15(2): 87-92, 2018 03.
Article in English | MEDLINE | ID: mdl-29714125

ABSTRACT

AIM: rs599839 polymorphism has been related with low levels of cholesterol and reduced coronary heart disease (CHD). METHODS: We investigated the frequency of this polymorphism in patients with heterozygous familial hypercholesterolemia (HeFH) in the Spanish familial hypercholesterolemia cohort, 230 with and 202 without CHD. Results & discussion: A lower G-allele prevalence was observed in HeFH patients with CHD with respect to controls, 35 versus 45%, respectively (p = 0.029), suggesting a protective effect. However, it was found that there was no association between rs599839 alleles and CHD in the multivariate analysis. CONCLUSION: The frequency of the protective G-allele of the rs599839 polymorphism was lower in HeFH patients with CHD compared with those HeFH patients without CHD. However, its role in HeFH may be masked by very high levels of cholesterol.


Subject(s)
Coronary Disease/genetics , Hyperlipoproteinemia Type II/genetics , Phosphoproteins/genetics , Adult , Aged , Alleles , Cholesterol/genetics , Coronary Artery Disease/epidemiology , Coronary Disease/epidemiology , Female , Gene Frequency/genetics , Heterozygote , Humans , Hypercholesterolemia/epidemiology , Hypercholesterolemia/genetics , Hyperlipoproteinemia Type II/epidemiology , Male , Middle Aged , Multivariate Analysis , Phosphoproteins/metabolism , Polymorphism, Single Nucleotide/genetics , Spain
4.
J Clin Lipidol ; 8(4): 418-22, 2014.
Article in English | MEDLINE | ID: mdl-25110223

ABSTRACT

BACKGROUND: Interleukin-4 (IL-4) has been linked with atherogenic effects and some single nucleotide polymorphisms (SNPs) of the IL4/13 receptors (ILR4/13) have been associated with enhanced response to IL-4. OBJECTIVES: We investigated the frequency of SNP ILR4/13 in patients with familial hypercholesterolemia (FH) compared with control relatives without FH and their possible association with cardiovascular disease (CVD). METHODS: ILR4/13 polymorphisms were studied in 626 subjects included in the Spanish FH cohort, 408 patients with FH and 218 healthy relative control subjects. Logistic regression was used to assess the relation between SNP, clinical data, and CVD. RESULTS: A total of 143 (35%) FH patients had rs1801275 polymorphisms (AG or GG) of the IL-4Rα, whereas only 52 (24%) of the control group had these polymorphisms, P = .002. No differences were observed between the groups when the IL13RA2 rs638376 polymorphisms were analyzed. The multivariate analysis found association (odds ratio: 95% confidence interval) between CVD and smoking history (2.22: 1.30-3.80), low levels of high-density lipoprotein cholesterol (1.72: 1.07-2.75), hypertension (2.25: 1.32-3.85), age > 60 years (2.50: 1.52-4.07), and FH diagnosis (13.1: 6.65-26), but not with IL-4Rα rs1801275 polymorphisms. CONCLUSION: Our data suggest that SNP of IL-4Rα is more frequent in FH patients than in the relative controls. Conversely to the general population, IL-4 does not seems to play a role in the risk of developing CVD in FH patients.


Subject(s)
Cardiovascular Diseases/genetics , Hyperlipoproteinemia Type II/genetics , Receptors, Interleukin-4/genetics , Adult , Aged , Cardiovascular Diseases/immunology , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Hyperlipoproteinemia Type II/immunology , Interleukin-4/immunology , Male , Middle Aged , Polymorphism, Single Nucleotide , Spain
5.
J Clin Hypertens (Greenwich) ; 16(5): 378-84, 2014 May.
Article in English | MEDLINE | ID: mdl-24720624

ABSTRACT

Pulse wave velocity (PWV) is used for evaluating atherosclerosis; however, it is far from routine use. The authors validate a new device measuring PWV independently in each limb and explore its usefulness. Validity was studied in 40 patients. PWV was compared with endovascular measurements and comparisons were made between PWV in the extremities in 220 patients. The correlation between brachial PWV and endovascular catheter was (r=0.83, P<.001). The correlation coefficients for interobserver and intraobserver were r=0.87 and r=0.91, respectively. The sum of PWV in limbs allowed better stratification of patients according to cardiovascular risk. The validity and reproducibility of PWV measured with this device was good. The sum of PWV in extremities was a good index for stratifying patients according to vascular risk. These results suggest that the device is useful in the evaluation of arteriosclerosis and could possibly replace measurement devices available today.


Subject(s)
Blood Pressure , Cardiovascular Diseases/diagnosis , Pulsatile Flow/physiology , Pulse Wave Analysis/instrumentation , Risk Assessment/methods , Adult , Blood Flow Velocity , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/physiopathology , Equipment Design , Female , Humans , Incidence , Male , Middle Aged , Reproducibility of Results , Spain/epidemiology
6.
Transplantation ; 73(10): 1598-602, 2002 May 27.
Article in English | MEDLINE | ID: mdl-12042646

ABSTRACT

BACKGROUND: The present scarcity of organ donors requires consideration of grafts from sources not previously used. Several studies have addressed the use of grafts from donors who have antibodies to the hepatitis B core antigen (anti-HBc+). The aim of this study was to evaluate the impact of the use of anti-HBc+ grafts in patients transplanted for hepatitis B virus (HBV)-related cirrhosis. METHODS: Recipients of first hepatic transplants from donors with antibodies to HBV were identified retrospectively. All patients who had serology suggestive of active HBV and were negative for hepatitis C and D were included in the analysis. The Kaplan-Meier method was used to assess the actuarial recurrence-free survival on patients with graft survival longer than 1.5 months. The stepwise Cox regression model was used to identify independent predictors of HBV recurrence. RESULTS: One thousand seven hundred seventeen first liver transplants were performed at the Thomas E. Starzl Transplantation Institute from September 1, 1990, to December 31, 1999. HBV was the cause of cirrhosis in 112 patients (6.5%). Thirty-three patients had coexistent viral infection (23 HCV and 10 HDV). Fourteen donors (17.2%) were positive for HBV markers, with nine anti-HBc+ and with five both anti-HBc+ and anti-HB surface-positive; of these, 13 anti-HBc+ organ recipients had long-term survival. Nine (69.2%) of these cases were reinfected versus 20 (35.7%) in the group that received grafts from HBV- donors (P<0.05, Fisher's exact test). The mean time to reinfection was shorter in the anti-HBc+ group (2.9 yr vs. 6.4 yr, P<0.005). There were no statistical differences in graft or patient survival between the two groups. HBV prophylaxis with combined lamivudine and hepatitis B immunoglobulin (HBIG) significantly reduced the reinfection rate (P<0.03). Hepatitis Be (Hbe) antigen-positive recipients trended to faster reinfection (not significant). Cox regression analysis revealed that both anti-HBc graft donor status (RR, 2.796; P=0.020) and combination of lamivudine/HBIG (RR, 0.249; P=0.021) are independently associated with reinfection. CONCLUSIONS: The use of anti-HBc+ liver grafts does not affect graft or patient survival. However, patients who receive these organs are 2.5 times more likely to develop HBV recurrence. Lamivudine and HBIG combination decreases HBV recurrence 4-fold.


Subject(s)
Hepatitis B Core Antigens/analysis , Hepatitis B/complications , Liver Cirrhosis/surgery , Liver Transplantation/physiology , Liver/virology , Adult , Aged , Alkaline Phosphatase , Antiviral Agents/therapeutic use , Disease-Free Survival , Female , Hepatitis B/prevention & control , Humans , Immunoglobulins/therapeutic use , Lamivudine/therapeutic use , Liver Cirrhosis/virology , Male , Middle Aged , Recurrence , Retrospective Studies , Treatment Outcome
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