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INTRODUCTION: Imatinib is an orally administered tyrosine kinase inhibitor with wide clinical use in different indications from solid tumors to hematologic malignancies. Inclusion body myositis (IBM) is an acquired myopathy of both inflammatory and degenerative nature. CASE REPORT: We present an 81 years old male with a history of gastrointestinal stromal tumor (GIST) operated 8 years ago and was evaluated for the progressive loss of weight and muscle strength leading to total immobilization in 6 months. He was under imatinib for 8 years despite the remission of GIST. Physical examination disclosed diffuse loss of muscle strength, most prominently involvement of distal upper and proximal lower extremity in an asymmetrical pattern with normal serum creatinine kinase level (CK). Further investigations including bilateral thigh MRI, electromyography (EMG), and PET/CT suggested myositis and degenerative myopathy and ruled out any malignancy. Quadriceps femoris biopsy proved the diagnosis of IBM and no trigger except for imatinib was displayed. MANAGEMENT AND OUTCOME: Clinical improvement in terms of weight loss and muscle weakness was achieved after the discontinuation of imatinib. DISCUSSION: This is the first case of IBM associated with prolonged use of imatinib not reported in the literature so far. Since imatinib is widely used in different conditions, it is important to be aware of even its rare adverse effects. Poor response of IBM to conventional immunosuppressive agents enhances the value of etiology identification to relieve symptoms in addition to supportive care.
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Abstract Introduction: Ankle-brachial pressure index is an objective, noninvasive test for predicting subclinical atherosclerotic diseases. We investigated the role of ankle-brachial pressure index measured with automated sphygmomanometer devices in the prediction of the development of acute kidney injury in patients undergoing major cardiac surgery. Methods: This single-centered, cross-sectional, and observational study was performed on 80 (66 males and 14 females, 58 ± 10 years) patients undergone cardiac surgery. Complete anamnesis, laboratory tests, intravenous fluids, medications, blood products, and all perioperative procedures were recorded in all patients before the surgery. Two automated sphygmomanometer devices giving equivalent results were used for measuring Ankle-brachial pressure index. The data in the first two days after the surgery were used for analysis. The criteria of AKIN were used in the diagnosis of acute kidney injury. Results: Twenty-one (23%) patients developed acute kidney injury in the postoperative period. None of the patients needed renal replacement therapy or died. There was no significant difference between mean ankle-brachial pressure index levels of patients with and without acute kidney injury (1.04 ± 0.17 and 1.06 ± 0.19, respectively, p=0.554). The mean ankle-brachial pressure index was significantly lower in patients with perioperative complications that cause hemodynamic instability (1.07 ± 0.14, 0.96 ± 0.13, p=0.016). On the multivariate analysis model, only perioperative hemodynamic complication development was found to be related to postoperative acute kidney injury. Conclusion: Ankle-brachial pressure index may have a role in predicting perioperative hemodynamic complications, which may cause acute kidney injury in patients undergoing major surgery. Simple automatic blood pressure devices can be used in daily practice for ankle-brachial pressure index measurement instead of complex and expensive doppler devices.
Resumen Introducción: El índice tobillo-brazo (ITB) es una prueba objetiva y no invasiva para diagnosticar la aterosclerosis asintomática. Investigamos el papel del índice tobillo-brazo medido a través de esfigmomanómetros automáticos para pronosticar el desarrollo de insuficiencia renal aguda en pacientes que se sometieron a una cirugía cardíaca mayor. Material y métodos: En este estudio observacional, transversal y unicéntrico, se incluyó a 80 pacientes (66 hombres y 14 mujeres de 58 ± 10 años) que se sometieron a una cirugía cardíaca. Se registraron los siguientes datos de todos los pacientes antes de la cirugía: anamnesis completa, análisis clínicos, líquidos intravenosos, medicamentos, productos hemoderivados e intervenciones perioperatorias. Para medir el ITB, se utilizaron dos esfigmomanómetros automáticos que arrojaron resultados similares. Se analizaron los datos recogidos los primeros dos días luego de la cirugía. Se siguieron los criterios de la AKIN para diagnosticar la insuficiencia renal aguda. Resultados: Veintiún pacientes (23 %) sufrieron insuficiencia renal aguda en el postoperatorio. Ninguno de los pacientes necesitó tratamiento renal sustitutivo ni falleció. No hubo diferencias significativas entre los valores medios del índice tobillo-brazo en pacientes con insuficiencia renal aguda y sin ella (1,04 ± 0,17 y 1,06 ± 0,19, respectivamente; p=0,554). El valor medio del ITB fue significativamente menor en pacientes con complicaciones perioperatorias que causan inestabilidad hemodinámica (1,07 ± 0,14; 0,96 ± 0,13; p=0,016). En el modelo de análisis multivariado, solo se encontró que la aparición de complicaciones hemodinámicas perioperatorias estaba relacionada con la insuficiencia renal aguda luego de la operación quirúrgica. Conclusión: Es posible que el ITB desempeñe un papel en la predicción de complicaciones hemodinámicas perioperatorias, que pueden causar insuficiencia renal aguda en pacientes sometidos a cirugía mayor. En la práctica diaria, pueden utilizarse dispositivos automáticos simples que calculan la tensión arterial para medir el índice tobillo-brazo, en lugar de dispositivos Doppler complejos y costosos.
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OBJECTIVE: The aim of this study was to investigate the effects of the CETP gene rs289714 polymorphism on the serum lipid profile and other metabolic parameters in Turkish patients with coronary artery disease (CAD). METHODS: The CETP rs289714 variant was examined in 104 patients with CAD and 77 controls using the polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: The CETP rs289714 genotype and allele distribution was not statistically different between the groups (p>0.05). The body mass index (BMI) values in men with CAD were higher in patients with the G allele compared with those carrying the AA genotype (p=0.05). Logistic regression analysis showed that the G allele in male CAD patients was a risk factor for a BMI of ≥ 27 kg/m2 (odds ratio: 0.269, 95% confidence interval: 0.0750.966; p=0.044). The G allele in female patients was associated with lower HDL-C levels than the AA genotype (p=0.049). CONCLUSION: The results suggest that the CETP rs289714 polymorphism may cause risk for the development of CAD due to its effects on high-density lipoprotein cholesterol values in female patients and BMI in male patients.
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Proteínas de Transferencia de Ésteres de Colesterol/genética , Enfermedad de la Arteria Coronaria/genética , Polimorfismo Genético , Alelos , Índice de Masa Corporal , Estudios de Casos y Controles , HDL-Colesterol/sangre , Enfermedad de la Arteria Coronaria/metabolismo , Femenino , Genotipo , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Polimorfismo de Longitud del Fragmento de Restricción , Factores Sexuales , TurquíaRESUMEN
BACKGROUND: Type 2 diabetes (T2DM) is characterized by hyperglycemia and insulin deficiency. Sirtuin 1 (SIRT1), serving as a deacetylase, is critical in the regulation of glucose and lipid metabolism. Recently, a number of studies have been conducted to investigate the role of SIRT1 in the pathogenesis of T2DM. However, there are no sufficient data about the relationship between SIRT1 and T2DM. The aim of this study was to analyze the expressions of microRNAs (miRNAs) (miR-34a, miR-9, miR-132, and miR-181a) involved in SIRT1 regulation and SIRT1 protein in the serum of T2DM patients and controls. MATERIALS AND METHODS: miRNA expressions were determined by real-time polymerase chain reaction, and enzyme-linked immunosorbent assay was used to measure the SIRT1 protein levels in 25 T2DM patients and 25 controls. RESULTS: Fasting blood glucose and glycated hemoglobin levels were significantly higher in patients when compared with controls (P < 0.001). There was no difference for miRNA expressions between the groups (P > 0.05). SIRT1 protein level was significantly increased in patients as compared to controls (P = 0.044). Moreover, SIRT1 was negatively correlated with miR-181a (r = -0.558, P = 0.005) and miR-132 (r = -0.435, P = 0.034) in patients. CONCLUSION: Obtained results indicate that serum SIRT1 may be a potentially new biomarker for T2DM and also miR-181a and miR-132 may be involved in the development of T2DM by targeting SIRT1. This is the first study reporting on the effects of SIRT1 and related miRNAs in Turkish T2DM patients.
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OBJECTIVE: Innate immunity factors are associated with type 2 diabetes (T2DM) and its complications. Therefore, T2DM has been suggested to be an immune-dependent disease. Elevated fasting glucose level and higher concentrations of innate immunity soluble molecules are not only related with insulin resistance, but inflammation is also an important factor in beta cell dysfunction in T2DM. Toll-like receptor 2 (TLR-2), which has an important role in inducing innate immune cells, is thought to have suppressive roles on immune responses in T2DM. We therefore aimed to investigate the possible role of TLR-2 del -196-174 and Arg753Gln variants in T2DM pathogenesis. MATERIALS AND METHODS: This study was designed as a case-control study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to genotype the two variants in 100 T2DM patients and 98 agematched controls. RESULTS: We found significantly higher frequencies of TLR-2 del -196-174 DD genotype (P=0.003), ID genotype (P=0.009) and D allele (P=0.001) in patients compared with controls. In addition, the II genotype (P=0.001) and the I allele (P=0.003) frequencies were elevated in healthy controls. We did not find any significant differences in frequency distribution for the Arg753Gln variant in study groups. CONCLUSION: We suggest that carrying the D allele of the TLR-2 del -196-174 variant may be related as a risk factor for T2DM.
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BACKGROUND: Immunological and inflammatory mechanisms have been shown to have role in both the development and progression of diabetic nephropathy (DNP). There is need for more specific markers for inflammation as the ones commonly used are influenced by many factors. Pentraxin-3 (PTX-3) seems to be a potential candidate. We aimed in our study to evaluate the changes of PTX-3 levels in different stages of DNP and its relationship with other inflammatory markers. METHODS: This is a cross sectional study in which patients with DNP at different stages were involved. Patient were divided into three groups according to estimated glomerular filtration rate (eGFR), microalbuminuria and proteinuria levels: Group-1: eGFR >60 mL/min and microalbuminuria, Group-2: eGFR >60 mL/min and macroalbuminuria, Group-3: eGFR <60 mL/min and macroalbuminuria. Besides the routine biochemical parameters, levels of PTX-3, high sensitivity C-reactive protein (hsCRP), interleukin (IL)-1 and tumor necrosis factor (TNF)-α was measured. Groups were compared with each other regarding the study parameters and correlation of PTX-3 with other markers was evaluated. RESULTS: The mean PTX-3 level in Group-2 (0.94 ± 0.26 ng/mL) and -3 (1.35 ± 1.55 ng/mL) were higher than in Group-1 (0.81 ± 0.25 ng/mL) (p = 0.009 and p = 0.012). There was a significant correlation of PTX-3 with proteinuria (r = 0.266, p = 0.016), microalbuminuria (r = 0.304, p = 0.014) and hypoalbuminemia (r = 0.197, p = 0.043). PTX-3 was not correlated with other markers of inflammation (IL-1, TNF-α and hsCRP) and diabetic metabolic parameters (hbA1c, C-peptide, insulin and HOMA-IR). PTX-3, IL-1 and TNF-α levels increased with the advancing stage of DNP while hsCRP level did not change. CONCLUSION: PTX-3 that increases similar to other markers of inflammation (IL-1, TNF-α) is a better inflammatory marker than hsCRP. Furthermore, there is a relationship between PTX-3 and proteinuria independent from eGFR.
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Proteína C-Reactiva/química , Diabetes Mellitus Tipo 2/complicaciones , Nefropatías Diabéticas/fisiopatología , Interleucina-1/sangre , Componente Amiloide P Sérico/química , Factor de Necrosis Tumoral alfa/sangre , Anciano , Albuminuria/complicaciones , Biomarcadores , Estudios Transversales , Femenino , Tasa de Filtración Glomerular , Humanos , Inflamación/sangre , Modelos Lineales , Masculino , Persona de Mediana Edad , TurquíaRESUMEN
OBJECTIVE: The aim of the present study was to investigate the relationship between ABCG5 and ABCG8 gene polymorphisms and plasma lipid concentrations in Turkish patients with type 2 diabetes mellitus. METHODS: Included in this study were 80 patients with type 2 diabetes and 73 healthy controls. Two selected single nucleotide polymorphisms in ABC transporter genes, ABCG5 (rs6720173) and ABCG8 (rs4148211), were genotyped by using the polymerase chain reaction-restriction fragment length polymorphism technique. RESULTS: The rate of having the ABCG8 AA genotype (p=0.001) was significantly higher in the patients than in the control subjects. Correspondingly, the rates of having the AG genotype (p=0.001) and the G allele (p=0.001) were significantly lower in the patients than in controls. Upon comparing the groups regarding ABCG5, the frequencies of occurrence of the GG genotype (p=0.031) and G allele (p=0.003) were considerably higher in patients than in control subjects. In the patients, the rates of having the CC genotype (p=0.003) and the C allele (p=0.031) were also significantly lower than those in control subjects. There was no significant difference between G5 and G8 polymorphism and lipid levels in the study groups. The ABCG8 AA genotype carriers had higher triglyceride (p=0.045) and very low-density-cholesterol (p=0.045) levels than the ABCG8 GG genotype carriers in all study populations. CONCLUSIONS: These results indicate that the AA genotype for ABCG8 and the GG genotype and G allele for ABCG5 are risk factors for diabetes. This study reveals the first data concerning the ABCG5 and ABCG8 gene polymorphisms in Turkish patients with diabetes.
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Transportadoras de Casetes de Unión a ATP/genética , Diabetes Mellitus Tipo 2/genética , Lípidos/sangre , Lipoproteínas/genética , Polimorfismo de Nucleótido Simple , Transportador de Casetes de Unión a ATP, Subfamilia G, Miembro 5 , Transportador de Casete de Unión a ATP, Subfamilia G, Miembro 8 , Adulto , Anciano , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , TurquíaRESUMEN
AIM: There are two different types of diabetes mellitus, type 1 and type 2, with still unclear molecular mechanisms. In the present study, we aimed to investigate the role of small ubiquitin-like modifier 4 (SUMO4) M55V and nuclear factor kappa B1 (NFKB1)-94del/ins in type-2 diabetes mellitus. MATERIALS AND METHODS: We analyzed SUMO4 M55V and NFKB1-94del/ins variants in 104 patients with type-2 diabetes and 124 healthy controls using the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques. RESULTS: The number of SUMO4 M55V MM genotype and M allele carriers was significantly higher in patients compared to the control group; however, no efficiency results were found related to NFKB1-94del/ins polymorphism. CONCLUSION: It was found that SUMO4 M55V polymorphism and type-2 diabetes were significantly associated with a possible SUMO4 region to type-2 diabetes susceptibility. This preliminary study showed that the distribution of SUMO4 M55V and type-2 diabetes mellitus in Turkish patients may form the basis of future research.
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Diabetes Mellitus Tipo 2/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Mutación INDEL , Proteínas Modificadoras Pequeñas Relacionadas con Ubiquitina/genética , Adulto , Alelos , Estudios de Casos y Controles , Diabetes Mellitus Tipo 2/diagnóstico , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Subunidad p50 de NF-kappa B/genética , Polimorfismo de Nucleótido Simple , Factores de Riesgo , TurquíaRESUMEN
The aim of this study was to assess the possible influence of genetic polymorphisms in hOGG1, XRCC1, XRCC3, XPD, XPG and APE1 on the observed DNA damage in a group of Turkish myelodysplastic syndrome (MDS) patients. A total of 39 patients with myelodysplastic syndrome and 78 age-matched healthy control subjects were included in our study. Polymerase chain reaction/restriction fragment length polymorphism analysis was performed for the detection of DNA repair gene variants. No significant differences in DNA repair enzymes APE1, XRCC1 and XPG were found between MDS patients and controls. On the other hand, XRCC3, XPD and hOGG1 were associated with an increased risk of MDS (p=0.004, p=0.000, p=0.017, respectively). Specifically, Thr/Met genotype was more relevant in patients (p=0.026) in XRCC3; in hOGG1, Cys+ genotype was found higher in patients (p=0.017); and in XPD, Gln/Gln genotypes were found higher in the patient (p=0.001). In conclusion, XRCC3, XPD and hOGG1 genotypes are associated with an increased MDS risk, suggesting their possible involvement in the pathogenesis and biology of this disease.
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ADN Glicosilasas/genética , Reparación del ADN/genética , ADN-(Sitio Apurínico o Apirimidínico) Liasa/genética , Proteínas de Unión al ADN/genética , Endonucleasas/genética , Predisposición Genética a la Enfermedad , Síndromes Mielodisplásicos/genética , Proteínas Nucleares/genética , Polimorfismo Genético , Factores de Transcripción/genética , Proteína de la Xerodermia Pigmentosa del Grupo D/genética , Adulto , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Turquía , Proteína 1 de Reparación por Escisión del Grupo de Complementación Cruzada de las Lesiones por Rayos XRESUMEN
Brucellosis is a common worldwide zoonotic disease. Cutaneous manifestations are not specific and affect 1-14% of patients with brucellosis. Here, we describe 49-year-old female with fever and a diffuse maculopapular rash due to Brucella melitensis infection. Histopathology of skin biopsy revealed leukocytoclastic vasculitis; positive blood cultures for B. melitensis established the diagnosis of brucellosis. We provide a review of the relevant literature.
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Tumor necrosis factor-alpha (TNF-α) and interleukin 1 beta (IL-1ß) genetic variants which resulting in TNF-α and IL-1 overproduction may increase susceptibility to autoimmune diseases such as atherosclerosis. We have studied the association of TNF-α G308A and IL-1ß (+3953) C/T polymorphism with myocardial infarction in Turkish population. 143 patients with myocardial infarction and 213 age-matched healthy controls were included in the study. In univariant analysis, the frequencies of IL-1ß, TNF-α genotype or allele, and haplotype of C:A and T:A were significantly elevated in patients when compared with those of controls. GA genotype of TNF-α, T allele of IL-1ß and A of TNF-α allele seem to be risk factors for myocardial infarction. In contrast, CC genotype of IL-1ß and GG genotype of TNF-α have protective effect against myocardial infarction. In multivariate logistic regression analysis, TNF-α A allele, gender and smoking were associated with myocardial infarction. In conclusion, we can state that TNF-α A allele might be associated with myocardial infarction.
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Predisposición Genética a la Enfermedad , Interleucina-1beta/genética , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple/genética , Factor de Necrosis Tumoral alfa/genética , Estudios de Casos y Controles , Femenino , Genética de Población , Haplotipos/genética , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , TurquíaRESUMEN
BACKGROUND: Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin. The analbuminemic trait was diagnosed in a young Turkish woman on the basis of her clinical symptoms (bilateral lower limb edema) and biochemical findings (minimal albumin amount and variable increases in other protein fractions). METHODS: Total DNA from the analbuminemic proband and her parents was PCR-amplified using oligonucleotide primers designed to amplify the 14 exons of the albumin gene (ALB) and the flanking intron regions. The products were screened for mutations by single-strand conformation polymorphism (SSCP) and heteroduplex analyses (HA). RESULTS: HA allowed the identification of the mutation site in exon 12. Direct DNA sequencing of this abnormal fragment revealed that the analbuminemic trait was caused by a homozygous CA deletion at nucleotide positions c. 1614-1615 in the codons for Cys538 and Thr539. The subsequent frameshift should give rise to a putative truncated albumin variant in which the sequence Cys(538)-Thr-Leu-Ser has been changed to Cys(538)-Thr-Phe-Stop. The parents were heterozygous for the same mutation. CONCLUSIONS: Gel-based mutation detection and DNA sequencing substantiate the clinical diagnosis of congenital analbuminemia in our patient and show that the condition is caused by a novel mutation within the ALB gene. These results contribute to shed light on the molecular basis of this rare condition.
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Mutación del Sistema de Lectura , Albúmina Sérica/deficiencia , Albúmina Sérica/genética , Codón sin Sentido , Análisis Mutacional de ADN , Femenino , Homocigoto , Humanos , Eliminación de Secuencia , Turquía , Adulto JovenRESUMEN
Inflammation is a crucial component of coronary atherosclerosis and myocardial infarction (MI). Chemokine receptors are important modulators of inflammation. Polymorphisms in genes coding for chemokine receptors, CCR2 and CCR5, have been studied as genetic markers of coronary artery disease. In the present study, we investigated whether genetic variants of CCR2-V64I and CCR5-delta32 chemokine receptors have any effect on the development of myocardial infarction. A total of 146 MI patients and 202 control subjects were genotyped for CCR2 and CCR5. CCR2-V64I genotypes were not significantly different between patients with MI and controls (P > 0.05). CCR5-delta32 genotype distribution in cases was significantly different from that of controls (P = 0.042). The CCR5-delta32 wt/deletion genotype frequencies for controls and cases were 0.10 and 0.19, respectively and individuals with CCR5-delta32 wt/deletion genotype had a 2.13-fold increased risk of myocardial infarction (P = 0.0013). Individuals carrying the CCR5-delta32 heterozygote or homozygous variant genotype (deletion/deletion + wt/deletion) had a 1.96-fold increased risk of myocardial infarction compared with the wild-type genotype (wt/wt) (p: 0.016). In conclusion, our data have suggested that genetic variant of CCR5 might be associated with the development of MI. Further larger sample size studies are required to confirm our findings.
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Predisposición Genética a la Enfermedad , Variación Genética , Infarto del Miocardio/genética , Receptores CCR2/genética , Receptores CCR5/genética , Sustitución de Aminoácidos/genética , Estudios de Casos y Controles , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , TurquíaRESUMEN
Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal disorder of bone marrow. It is characterized by blood cells lacking membrane proteins that are normally attached by the glycosylphosphatidylinositol (GPI) anchor. The cellular defect arises in a hematopoetic stem cell and is due to somatic mutation of the Phosphatidylinositol-glycan protein-A gene (PIG-A gene), encoding a protein needed for the biosynthesis of the anchor GPI. Paroxysmal nocturnal hemoglobinuria is presented by intravascular hemolysis, cytopenias, frequent infections, bone marrow hypoplasia, and a high incidence of life threatening venous thrombosis. Kidney involvement is usually benign and secondary to chronic tubular deposition of hemosiderin. Acute renal failure may occur in association with a hemolytic crisis. Here we report a case of 40-year-old woman with hematuria, pancytopenia, and acute renal failure due to PNH.
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Lesión Renal Aguda/etiología , Hemólisis , Adulto , Femenino , Humanos , Índice de Severidad de la EnfermedadRESUMEN
To evaluate the effect of cholesterol ester transfer protein (CETP) Taq1B gene polymorphism on serum lipid profile in Turkish coronary artery disease (CAD) patients, we investigated Taq1B gene polymorphism of CETP and serum lipid levels in 111 controls and in 173 CAD patients with myocardial infarction. There were no significant differences in the allele distribution at this polymorphic locus between the population sample and patients with coronary artery disease with myocardial infarction. To detect the association between the Taq1B RFLP and serum lipid levels, we determined the serum concentrations of total cholesterol, triglycerides and high density lipoprotein cholesterol (HDL-C) in the subjects studied and correlated the results to the Taq1B RFLP. Patients with Taq B1B1 genotypes had lower HDL-C levels than patients with B2B2 genotype (p = 0.003). Also in control subjects with Taq B1B1 genotype, lower HDL-C levels (p = 0.05) and higher triglyceride levels (p = 0.017) and body mass index (p = 0.05) were observed compared with control subjects with the B1B2 genotype. It was observed that in our population the distribution of CETP Taq1B genotypes is similar to other populations (except Greeks). The present study demonstrates that CETP Taq1B gene polymorphism may be responsible for low HDL cholesterol levels in patients with CAD and in healthy controls in Turkey.
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Proteínas Portadoras/genética , Enfermedad de la Arteria Coronaria/genética , Glicoproteínas/genética , Lipoproteínas/sangre , Polimorfismo Genético/genética , Proteínas Portadoras/sangre , Proteínas Portadoras/metabolismo , Proteínas de Transferencia de Ésteres de Colesterol , HDL-Colesterol/sangre , Enfermedad de la Arteria Coronaria/sangre , Estudios de Evaluación como Asunto , Femenino , Genotipo , Glicoproteínas/sangre , Glicoproteínas/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Triglicéridos/sangre , TurquíaRESUMEN
OBJECTIVE: Since the initial report of the association of the deletion/insertion (D/I) polymorphism in the gene for angiotensin-converting enzyme (ACE) with myocardial infarction (MI), there has been considerable controversy. Some have found the D allele to be associated with MI, coronary heart disease (CHD) or other cardiac pathologies, while others have not. In view of the clinical importance of the ACE as a major marker of cardiovascular diseases, we investigated the I/D polymorphism of the ACE gene in Turkish patients with acute myocardial infarction in comparison with control subjects. METHODS AND RESULTS: Polymerase chain reaction, and agarose gel electrophoresis techniques were used to determine the ACE genotype in 214 subjects. The frequencies of ACE D and ACE I allele among the patients with acute myocardial infarction were 65.54% and 36.45% and in the control subjects 57.62% and 42.37%, respectively. ACE DD genotypes were found higher in patients with left ventricular hypertrophy (LVH) than without LVH (55.6% vs. 37.7%; X2: 2.534, p > 0.05). CONCLUSIONS: The ACE D allele is more frequent in patients with acute myocardial infarction than in controls. Moreover ACE DD genotype might be associated with an increased risk of left ventricular hypertrophy.
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Hipertrofia Ventricular Izquierda/genética , Infarto del Miocardio/genética , Peptidil-Dipeptidasa A/genética , Polimorfismo Genético , Enfermedad Aguda , Alelos , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Encuestas y Cuestionarios , TurquíaRESUMEN
We investigated the effect of PON 55 and PON 192 polymorphisms on serum PON1 activity and lipid profiles in 213 non-insulin dependent diabetes mellitus (NIDDM) individuals and 116 non-diabetic controls among Turkish subjects. The distribution of PON 55/192 gene polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism. Serum lipid levels were measured enzymically. PON activity was measured by spectrophotometric assay of p-nitrophenol production following addition of paraoxon. We found that PON 55 and 192 genotype distribution was similar in patients and controls and paraoxonase activity was generally lower in diabetics than in control subjects. We showed that PON 55 and 192 genotypes have a major effect on serum PON activity. PON 192 BB homozygotes had significantly higher PON activity than AA and AB genotypes among the control and NIDDM populations (p<0.001). PON 55 MM homozygotes had significantly lower PON activity than did LL and LM genotypes in control and NIDDM populations (p<0.05). The PON1 55 and 192 polymorphisms did not consistently influence the serum lipid profiles in either population. In conclusion, our results suggest that the paraoxonase activities are affected by PON1 genetic variability in Turkish NIDDM patients and controls.
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Arildialquilfosfatasa/sangre , Arildialquilfosfatasa/genética , Diabetes Mellitus Tipo 2/genética , Lípidos/sangre , Polimorfismo Genético , Arildialquilfosfatasa/metabolismo , Presión Sanguínea , Índice de Masa Corporal , Dermatoglifia del ADN , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/enzimología , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , TurquíaRESUMEN
The most common alterations in lipid and lipoprotein metabolism in type 2 diabetes involve an elevation in both plasma triglyceride and VLDL concentrations, a dense LDL phenotype and low levels of HDL cholesterol. The inverse relationship between the level of HDL cholesterol and the risk of cardiovascular disease is commonly explained by the crucial role of HDL in reverse cholesterol transport. Cholesterol ester transfer protein (CETP) has a central role in the metabolism of HDL and may therefore alter the susceptibility to atherosclerotic vascular disease. To evaluate the effect of Taq1B polymorphism of intron 1 of CETP gene on serum lipid concentrations in Turkish type 2 diabetic patients, we investigated Taq1B polymorphism and serum lipid levels in 116 controls and in 164 diabetic patients. Polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and agarose gel electrophoresis techniques were used to determine the CETP Taq1B polymorphism. Serum lipid levels were measured enzymatically. Statistical analyses was performed by SPSS. In control group: subjects with B2B2 genotype have high HDL-cholesterol levels (p=0.029) and B1B1 genotypes have high triglyceride levels (p=0.07). Diabetic patients with and without MI with B2B2 genotype have high HDL-cholesterol levels. Taq B1B1 genotype has higher in diabetic patients with myocardial infarction (MI) than diabetic patients without myocardial infarction (42.1% and 32.7%; chi2=1.42, p=0.23). The present study demonstrates that the CETP Taq1B gene polymorphism is an association with low HDL cholesterol levels in patients with type II diabetes mellitus and healthy controls in Turkey. We also showed that CATE Taq1B gene polymorphism may be related to myocardial infarction in type II diabetic patients.