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1.
BMC Urol ; 23(1): 105, 2023 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-37286956

RESUMEN

OBJECTIVE: To determine the effectiveness of pelvis diameters in determining postoperative outcomes in men who underwent open radical cystectomy + urinary diversion, it is aimed to predict the factors that may affect the operative difficulty and possible surgical outcomes before the operation. METHODS: A total of 79 radical cystectomy patients operated in our institution with preoperative computed tomography (CT) were included the study. Pelvic dimensions; symphysis angle (SA), upper conjugate, lower conjugate, pelvic depth, apical depth (AD), interspinous distance (ISD), bone femoral width and soft tissue width were measured by preoperative CT. ISD index were defined as ISD/AD. Postoperative outcomes and indicators of operative difficulty were recorded. Regression analyses were used to predict perioperative and postoperative outcomes. RESULTS: Total of 96 complications were observed in 52 of the 79 patients in ninety days (65,8%) with a mean age of 68.25 years. There were significant correlations between SA and body mass index (BMI) with operative time (p = 0.006, p < 0.001; respectively). For estimated blood loss, there were significant correlations between preoperative hematocrit (p = 0,031). Analysis of multivariate logistic regression revealed that higher Charlson comorbidity index (CCI) and BMI were found to be significant predictors for major complications while CCI, pathological T stage and ISD index are prominent predictors for surgical margin positivity. CONCLUSIONS: Pelvic dimensions are not significant with minor or major complications. However, operative time may be associated with SA. Also, narrow and deep pelvis may increase the risk of positive surgical margins.


Asunto(s)
Neoplasias de la Vejiga Urinaria , Derivación Urinaria , Masculino , Humanos , Anciano , Cistectomía/métodos , Vejiga Urinaria , Pelvis/diagnóstico por imagen , Pelvis/patología , Derivación Urinaria/efectos adversos , Neoplasias de la Vejiga Urinaria/cirugía , Resultado del Tratamiento , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos
2.
Turk J Med Sci ; 53(5): 1214-1223, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38813029

RESUMEN

Background and aim: To evaluate and compare magnetic resonance imaging (MRI) sequences that could potentially be used in the diagnosis of coronavirus disease 2019 (COVID-19). Materials and methods: Included in the study were 42 patient who underwent thorax computed tomography (CT) for COVID-19 pneumonia and thorax MRI for any reason within 24 h after CT. The T2-weighted fast spin echo periodically rotated overlapping parallel lines with enhanced reconstruction (PROPELLER) (T2W-FSE-P), fast imaging employing steady-state acquisition, T2 fat-saturated FSE, axial T1 liver acquisition with volume acceleration (LAVA) and single-shot FSE images were compared in terms of their ability to show COVID-19 findings. Results: The mean age of the patients was 47.2 ± 24 years. Of the patients, 22 were male (52.4%) and 20 (47.6%) were female. The interobserver intraclass coefficient (ICC) for the image quality score was the highest in the T2W-FSE-P sequence and lowest in the T1 LAVA sequence. All of the lesion-based evaluations of the interobserver agreement were statistically significant, with the kappa value varying between 0.798 and 0.998. Conclusion: All 5 sequences evaluated in the study were successful in showing the parenchymal findings of COVID-19. Since the T2W-FSE-P sequence had the best scores in both interobserver agreement and ICC for the image quality score, it was considered that it can be included in thorax MRI examinations to assist the diagnosis of COVID-19.


Asunto(s)
COVID-19 , Imagen por Resonancia Magnética , SARS-CoV-2 , Humanos , COVID-19/diagnóstico por imagen , Masculino , Femenino , Persona de Mediana Edad , Imagen por Resonancia Magnética/métodos , Adulto , Tórax/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Anciano , Pulmón/diagnóstico por imagen
3.
J Endovasc Ther ; 29(4): 516-524, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35293247

RESUMEN

PURPOSE: The main objective of this study is to describe the retrograde guidewire-assisted remodeling technique (REGART), a novel technique, and assess its feasibility, safety, and effectiveness in the recanalization of ostial arterial occlusions without a visible stump in the critical limb ischemia (CLI). MATERIALS AND METHODS: A retrospective review of 387 patients who underwent endovascular treatment (EVT) for peripheral artery disease between January 2020 and June 2021 was performed. Among these, 23 patients (14 males [60.8%]) with a mean age of 64.2 (range: 55-72) years who underwent REGART were included. Patient demographics, procedural details, and outcomes were noted. RESULTS: The technical success rate was 95.6% (22/23). The angiographic success rate was 86.3% (19/22). The procedure-related complication rate was 21.7% (5/23), with 4 (17.4%) major complications and 1 (4.3%) minor complication. CONCLUSION: In the CLI, results of this trial suggest that REGART is feasible, effective, and with acceptable safety in the catheterization of occluded artery origins without a visible stump when conventional anterograde and retrograde techniques fail. Thus, the target occluded artery can be recanalized while preserving other arterial origins by minimizing dissection risk through subintimal balloon angioplasty at the bi-trifurcation level.


Asunto(s)
Angioplastia de Balón , Arteriopatías Oclusivas , Procedimientos Endovasculares , Enfermedad Arterial Periférica , Anciano , Angioplastia , Angioplastia de Balón/efectos adversos , Angioplastia de Balón/métodos , Isquemia Crónica que Amenaza las Extremidades , Procedimientos Endovasculares/efectos adversos , Procedimientos Endovasculares/métodos , Humanos , Isquemia/diagnóstico por imagen , Isquemia/terapia , Recuperación del Miembro , Masculino , Persona de Mediana Edad , Enfermedad Arterial Periférica/diagnóstico por imagen , Enfermedad Arterial Periférica/terapia , Arteria Poplítea , Estudios Retrospectivos , Resultado del Tratamiento
4.
Semin Dial ; 35(6): 522-527, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-34963036

RESUMEN

BACKGROUND: The lyse and wait technique is a percutaneous endovascular technique in the treatment of thrombosed dialysis fistulas. In this study, our aim was to introduce a more easily applicable modification of the lyse and wait technique and present our results. METHODS: A total of 84 patients (56 male; 66.6%), with a mean age of 61 years, were included in the study. The treatment was performed in patients presenting with dialysis fistula thrombosis no more than 1 week before the procedure, whose thrombosed segment length was less than 10 cm. A 27-G dental needle was inserted into the thrombosed segment under ultrasonography guidance, and 5 mg of alteplase was injected in a controlled manner. After about 6 to 12 h, the patients were taken to the angiography unit, and balloon angioplasty was performed. RESULTS: The technical and clinical success of the procedure was 98.8%. Technical and clinical failure occurred in only one patient. The median primary patency duration was 13.5 months. None of the patients had major complications. At the end of 12 months, the primary patency rate was 66.6%, and the secondary patency rate was 80%. CONCLUSIONS: Our technique has shown to have high technical and clinical success and patency.


Asunto(s)
Angioplastia de Balón , Derivación Arteriovenosa Quirúrgica , Fístula , Trombosis , Humanos , Masculino , Persona de Mediana Edad , Diálisis Renal/efectos adversos , Derivación Arteriovenosa Quirúrgica/efectos adversos , Grado de Desobstrucción Vascular , Resultado del Tratamiento , Terapia Trombolítica/efectos adversos , Terapia Trombolítica/métodos , Angioplastia de Balón/efectos adversos , Angioplastia de Balón/métodos , Trombosis/etiología , Fístula/complicaciones , Estudios Retrospectivos , Oclusión de Injerto Vascular/etiología
5.
Rev Invest Clin ; 74(2): 104-112, 2022 03 15.
Artículo en Inglés | MEDLINE | ID: mdl-35157416

RESUMEN

Background: Inflammation plays a critical role in cardiac remodeling after myocardial infarction (MI). Monocyte to high-density lipoprotein-cholesterol (HDL-C) ratio (MHR) has emerged as a potential indicator of inflammation. Objectives: The study aimed to investigate the prognostic role of MHR at the time of hospital admission in late cardiac remodeling and subsequent 1-year mortality in an academic training and research hospital. Methods: This prospective multicenter study included 231 patients with acute ST-elevation MI. Left ventricular (LV) functions and volumes were assessed by cardiac magnetic resonance (CMR) imaging at 2 weeks and 6 months post-MI. The definition of adverse cardiac remodeling (AR) was based on the increase of LV end-diastolic volume by ≥ 12% at 6 months post-MI. All patients were followed for survival for 1 year after the second CMR imaging measurements. Results: At 6 months post-MI, 20 patients (23.8%) exhibited AR. The median MHR was higher in the AR group compared to the group without AR (2.2 vs. 1.5, p < 0.001). A positive correlation was found between MHR and infarct size in the groups with and without AR. High MHR was an independent predictor of AR (OR: 3.21, p = 0.002). The cut-off value of MHR in predicting AR was found to be >1.6 with 92.7% sensitivity and 70.1% specificity (AUC ± SE: 0.839 ± 0.03, p < 0.001). Mortality risk was 5.62-fold higher in the group with MHR of >1.6 (HR: 5.62, p < 0.001). Conclusions: These results indicate that admission MHR is a useful tool to predict patients with AR who are at risk of progression to heart failure and mortality after MI.


Asunto(s)
Infarto del Miocardio con Elevación del ST , Humanos , Monocitos , Estudios Prospectivos , Función Ventricular Izquierda , Remodelación Ventricular
6.
Turk J Med Sci ; 51(2): 428-434, 2021 04 30.
Artículo en Inglés | MEDLINE | ID: mdl-33185367

RESUMEN

Background/aim: We aimed to identify clinical settings of renal transplant patients with COVID-19. Materials and methods: In this retrospective study, we included kidney transplant inpatients with laboratory confirmed COVID-19 who had been discharged or had died by October 1st, 2020. Characteristics of the patients, including basal and last outpatient biochemical parameters were recorded. Discontinuation or dosage reduction of immunosuppressives and other treatment information was documented. Results: Twenty patients were included in this study, of whom 18 were discharged and 2 died in hospital. The mean duration of hospitalization and follow-up were 9.7 ± 6.4 days and 4.5 ± 2.0 months, respectively. Fourteen patients (70%) were male and mean age was 48.0 ± 10.3 years. At admission, all had immunosuppression withdrawn and were started on methylprednisolone 16 mg/ day (50%) or dexamethasone (50%). Tacrolimus/m-TOR inhibitors were reduced by 50% and all antimetabolites were discontinued. Hemodialysis was needed for 10% of patients. Acute kidney injury was detected in 25% of the patients. With respect to hospitalization time and complications, there was no significant difference between patients who used dexamethasone and those who did not (P > 0.05). The discontinued immunosuppressives were resumed within 2 to 4 weeks after discharge according to the severity of disease. No rehospitalization or acute rejection was detected during the follow-up of the patients. Conclusion: Renal transplant patients are considered a high risk group for COVID-19. It can be said that discontinuation or reducing dosages of immunosuppressives may be effective and safe in kidney transplant patients.


Asunto(s)
COVID-19/fisiopatología , Glucocorticoides/uso terapéutico , Rechazo de Injerto/prevención & control , Huésped Inmunocomprometido , Inmunosupresores/uso terapéutico , Trasplante de Riñón , Lesión Renal Aguda/fisiopatología , Lesión Renal Aguda/terapia , Adulto , COVID-19/inmunología , COVID-19/terapia , Deprescripciones , Dexametasona/uso terapéutico , Progresión de la Enfermedad , Everolimus/uso terapéutico , Femenino , Mortalidad Hospitalaria , Hospitalización , Humanos , Tiempo de Internación , Masculino , Metilprednisolona/uso terapéutico , Persona de Mediana Edad , Ácido Micofenólico/uso terapéutico , Diálisis Renal , Respiración Artificial , Insuficiencia Respiratoria/fisiopatología , Insuficiencia Respiratoria/terapia , Estudios Retrospectivos , SARS-CoV-2 , Sepsis/fisiopatología , Tacrolimus/uso terapéutico
7.
Mol Biol Rep ; 47(8): 6105-6110, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32780252

RESUMEN

The etiology of pterygium remains unclear, but ultraviolet (UV) radiation is generally considered to be major risk factor. Pterygium has similarity features with many cancers, including inflammation, invasion, cell proliferation, anti-apoptosis, angiogenesis and recurrence after resection. Retinoic acid via cellular retinoic acid binding protein 2 (CRABP2) is involved in cell cycle arrest, apoptosis and differentiation, while it via fatty acid binding protein 5 (FABP5) is involved in survival, cell proliferation and angiogenesis, which pathway gets activated depends on the CRABP2/FABP5 ratio. Alterations of retinoid signaling were found in many cancer types. The deregulated retinoid signaling may also contribute to the development and/or recurrence of pterygium. The aim of our study was to determine mRNA and protein expressions of CRABP2 and FABP5 and ratio of CRABP2/FABP5 in primer and recurrent pterygium tissues. Pterygia tissues were collected from 30 eyes of 30 patients undergoing pterygium excision. CRABP2 and FABP5 mRNA and protein expression were assessed using Real-time PCR and Western blotting through examination of excised specimens from pterygium and conjunctiva tissues. The ratio of CRABP2/FABP5 gene expression was not altered when primary pterygium tissues compared normal conjunctival tissues (1.00-fold change). Whereas the ratio of CRABP2/ FABP5 gene expression was decreased when recurrent pterygium tissues compared normal conjunctival tissues (0.81-fold change). Understanding etiopathogenesis of pterygium may aid in the find of more promising treatments to prevent pterygium in earlier stages.


Asunto(s)
Proteínas del Ojo/genética , Proteínas de Unión a Ácidos Grasos/genética , Pterigion/genética , Receptores de Ácido Retinoico/genética , Anciano , Conjuntiva/metabolismo , Proteínas del Ojo/metabolismo , Proteínas de Unión a Ácidos Grasos/biosíntesis , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pterigion/metabolismo , ARN Mensajero/biosíntesis , Reacción en Cadena en Tiempo Real de la Polimerasa , Receptores de Ácido Retinoico/biosíntesis , Recurrencia
8.
Endocr Pract ; 26(5): 492-498, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-31968193

RESUMEN

Objective: Generally recommended treatment options for cystic nodules with compressive symptoms are simple aspiration, percutaneous ethanol injection, or surgery. N-butyl cyanoacrylate (NBCA) is a glue-like substance widely used in neurointerventions, mainly for treating arteriovenous malformations. It obstructs and attaches to the vessel walls, preventing recanalization. Our purpose was to investigate the efficacy and safety of NBCA in volume reduction of benign cystic thyroid nodules with compressive symptoms. Methods: Twenty patients with 21 benign pure or partially cystic nodules were enrolled. After simple cyst aspiration, NBCA/lipiodol mixture was injected within the cyst cavity. Success was defined as at least 50% volume reduction after the intervention. Pre- and postintervention longest diameter and volume (calculated with ultrasonography after measuring three dimensions) of the nodules were compared. Posttreatment measurements were made at the 9-month final visit. Results: Median largest diameter of the nodules measured before and after NBCA treatment was 4.8 cm (min-max, 3.1 and 6.3 cm) and 3.4 cm (min-max, 2.4 and 5.6 cm), respectively. Pre-NBCA treatment median volume was 24.8 mL (min-max, 10.9 and 46.1 mL), whereas post-treatment median volume was 5.5 mL (min-max, 2.1 and 29.6 mL). Median volume reduction was 72.6% (min-max, 21.0 and 95.4%). Intervention was successful in 20 of 21 nodules according to the predefined criteria. The changes in pre- and postintervention median longest diameter and volume were statistically significant. Conclusion: For large cystic thyroid nodules, ablation with NBCA may be an effective treatment choice, as it significantly reduces the cyst volume and prevents fluid re-accumulation. There is need for further studies with a larger number of patients and longer follow-up. Abbreviations: NBCA = N-butyl cyanoacrylate; PEI = percutaneous ethanol injection; US = ultrasonography.


Asunto(s)
Quistes , Nódulo Tiroideo , Enbucrilato , Humanos , Resultado del Tratamiento , Ultrasonografía
9.
Int Ophthalmol ; 40(8): 1949-1953, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32314321

RESUMEN

PURPOSE: Pterygium, a degenerative and hyperplastic lesion, has premalignant properties as a tumor analog. WWOX is a tumor suppressor gene and involved in many signal pathways, such as cell proliferation, embryonic development, metabolism and apoptosis. In many cancers, the loss of WWOX or the presence of abnormal transcripts indicates the tumor suppressor activity of WWOX. In this study, it was aimed to determine WWOX gene expression and protein levels in pterygium which may be a tumor analog. METHODS: For this purpose, the WWOX gene expression change in 27 pterygium tissue was investigated by real-time PCR method, and the change in WWOX protein was investigated using the Western blot method. RESULTS: According to our results, it was found that the expression and protein levels of WWOX gene in pterygium tissue decreased significantly compared to control tissue (p < 0.05). CONCLUSION: This information indicates that a decrease in expression and protein level in pterygium tissue of WWOX, a tumor suppressor gene, supports claims that pterygium may be a cancer analog tissue.


Asunto(s)
Pterigion , Expresión Génica , Humanos , Oxidorreductasas/genética , Pterigion/genética , Proteínas Supresoras de Tumor/genética , Oxidorreductasa que Contiene Dominios WW/genética
10.
Turk J Med Sci ; 50(8): 1970-1975, 2020 12 17.
Artículo en Inglés | MEDLINE | ID: mdl-33078606

RESUMEN

Background/aim: An ultrasound-guided liver mass biopsy is a method frequently used in determining the diagnosis and treatment plan.The aim of this study was to evaluate the potential new predictors of bleedingbased on ultrasonographic features in liver mass biopsies, which are frequently applied in routine clinical practice. Materials and methods: The images and data of patients aged over 18years,who underwent an imaging-guided percutaneous liver mass biopsy between January 2018 and December 2019 with various indications, were retrospectively reviewed. Liver size, liver steatosis status, parenchyma appearance, and mass vascularity on Doppler ultrasonography before the procedure, and hemoglobin (Hb) values before and after the procedure were recorded. Results: A total of 176 patients were included in the study. Ninety-six patients were male (54.5%) and 80 were female (45.5%). The mean age of the patients was 64 ± 12.3 years. The mean hemoglobin values of the patients were 11.5 ± 1.9 gr/dL before the procedure and 11.4 ± 1.5 gr/dL after the procedure. While 144 of the patients had less than 10% hemoglobin decrease (81.8%), 32 had more than 10% decrease (8.2%). In 56 patients, a heterogeneous and coarse granular pattern was observed in the liver parenchyma (31.8%). The decrease in the Hb rate was significantly higher in patients with heterogeneous and coarse granular liver parenchyma (8.7%) than in patients with normal parenchyma (6.6%) (P = 0.036). Conclusion: In our study, it was shown for the first time in the literature that the ultrasonographic appearance of the liver (heterogeneous and coarse granular parenchyma) may also be one of the parameters that can help to predict the risk of bleeding.


Asunto(s)
Hemorragia/diagnóstico , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/patología , Ultrasonografía Intervencional/métodos , Biopsia con Aguja/efectos adversos , Femenino , Hemorragia/etiología , Hemorragia/fisiopatología , Humanos , Biopsia Guiada por Imagen/efectos adversos , Hígado/diagnóstico por imagen , Hígado/patología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
11.
J Clin Lab Anal ; 33(3): e22704, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30390345

RESUMEN

BACKGROUND: Leiomyoma, one of the most common benign tumors, causes morbidity during the reproductive years in women. The molecular pathogenesis of the disease is not clear. Leiomyomas are hormone-sensitive tumors affecting around 20%-25% of women. Gene polymorphism studies could be important and explaining in the evaluation of multifactorial diseases such as leiomyoma. Polymorphisms involving genes responsible for the synthesis and signalization of steroid hormones could be used as genetic markers for hormone-related conditions. The purpose of this study was to analyze the effect of ERα-351 XbaI A/G, ERα-397 PvuII T/C, and progesterone receptor (PGR) PROGINS polymorphisms on the development of leiomyomas. MATERIAL AND METHODS: In this study, 213 samples (103 leiomyoma patients and 110 healthy controls) participated. The ERα-351 XbaI A/G and ERα-397 PvuII T/C gene polymorphisms were analyzed using PCR-RFLP method. PGR PROGINS polymorphism was analyzed by PCR method with specific primers. RESULTS: The genotype distribution and allele frequency of the ERα-351 XbaI A/G, ERα-397 PvuII T/C, and PGR PROGINS polymorphisms were not statistically different between leiomyoma patient and control groups (p > 0.05). CONCLUSION: This study reflects that ERα and PGR PROGINS polymorphisms may not be one of the many genetic factors for leiomyoma susceptibility.


Asunto(s)
Leiomioma/epidemiología , Leiomioma/genética , Polimorfismo Genético/genética , Receptores de Estrógenos/genética , Receptores de Progesterona/genética , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa
12.
J Clin Lab Anal ; 32(5): e22386, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29349811

RESUMEN

BACKGROUND: Alopecia areata (AA), which appears as nonscarring hair shedding on any hair-bearing area, is a common organ-specific autoimmune condition. Cytokines have important roles in the development of AA. Interleukin (IL) 18 is a significant proinflammatory cytokine that was found higher in the patients with AA. We aimed to investigate whether the IL-18 (rs187238 and rs1946518) single nucleotide polymorphisms (SNPs) may be associated with AA and/or clinical outcome of patients with AA in Turkish population. METHODS: Genotyping of rs187238 and rs1946518 SNPs were detected using sequence-specific primer-polymerase chain reaction (SSP-PCR) method in 200 patients with AA and 200 control subjects. RESULTS: The genotype distribution of rs1946518 (-607C>A) SNP was found to be statistically significantly different among patients with AA and controls (P = .0008). Distribution of CC+CA genotypes and frequency of -607/allele C of rs1946518 SNP were higher in patients with AA (P = .001, P = .001, respectively). The genotype distribution of rs187238 (-137G>C) SNP was found to be statistically significantly different among patients with AA and control subjects (P = .0014). Distribution of GG genotype and frequency of -137/allele G of rs187238 SNP were higher in patients with AA (P = .0003, P = .001, respectively). CONCLUSION: The rs1946518 (-607C>A) and rs187238 (-137G>C) polymorphisms were found associated with alopecia areata disease. The study suggests that IL-18 rs187238 and rs1946518 SNPs may be the cause of the AA susceptibility.


Asunto(s)
Alopecia Areata/genética , Predisposición Genética a la Enfermedad/genética , Interleucina-18/genética , Polimorfismo de Nucleótido Simple/genética , Adulto , Femenino , Frecuencia de los Genes , Pruebas Genéticas , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Factores Sexuales , Turquía
13.
Biochem Genet ; 54(6): 886-893, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27476063

RESUMEN

Familial Mediterranean fever (FMF) is an autosomal recessively inherited disease characterized by recurrent self-limited attacks of fever accompanied by aseptic inflammation of serosal spaces, joints and skin, peritonitis, pleuritis, and arthritis. Clinical features differ according to genetics variants. The aim of this study was to identify relationship between IL-6 -174G/C gene polymorphisms and clinical features, disease severity score (DSS) and proteinuria in children diagnosed with FMF. In this study, 99 children who were followed-up in Gaziosmanpasa University Medical Faculty Department of Pediatrics and diagnosed with Familial Mediterranean fever according to Tel-Hashomer criteria were included. One hundred and fifty seven children who admitted to the hospital with any complain and found healthy included in control group. Genotyping was done for polymorphism in a promoter region of IL-6 gene (G/C at -174). The IL-6 -174G/C gene polymorphism and the clinical features of FMF, proteinuria, the DSS, and the healthy control group were investigated. Data for the clinical features were obtained retrospectively from the electronic records of patients. All of the genotyping of blood samples were done in Medical Genetic laboratory of Gaziosmanpasa University School of Medicine. The results revealed that the distribution of the genotypes and allele frequencies of the IL-6 -174G/C polymorphism were not significantly different between the FMF patients and the healthy controls. The IL-6 -174G/C polymorphisms did not affect proteinuria, the DSS, and the clinical features of FMF patients.


Asunto(s)
Fiebre Mediterránea Familiar/genética , Interleucina-6/genética , Polimorfismo de Nucleótido Simple , Proteinuria/genética , Adolescente , Niño , Preescolar , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Masculino , Regiones Promotoras Genéticas , Índice de Severidad de la Enfermedad , Turquía
15.
Retina ; 35(10): 2043-51, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25932559

RESUMEN

PURPOSE: To investigate possible associations between five different single-nucleotide polymorphisms, from genes associated with arterial stiffness and branch retinal vein occlusion (BRVO), or central retinal vein occlusion. METHODS: A total of 187 patients with retinal vein occlusion (133 with BRVO and 54 with central retinal vein occlusion), and 167 controls, were enrolled in this study. All subjects were screened for hypertension, diabetes, smoking status, body mass index, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, total cholesterol, and very low-density lipoprotein. The genotyping of adiponectin +276 G/T, ACE I/D, AGTR1 A1166C, eNOS E298D, and p22phox -242 C/T polymorphisms was performed using real-time polymerase chain reaction. RESULTS: The percentage of the adiponectin +275 T allele carriers was significantly higher in the BRVO patients (37%) than in the controls (23%, P < 0.001). Similarly, the percentage of AGTR1 1166 C allele carriers was significantly higher in the BRVO patients (38%) than in the controls (24%, P < 0.001). At the multiple logistic regression analysis, the adiponectin +275 T allele carrier and AGTR1 1166 C allele carrier status were found to be associated with an increased risk of BRVO (TT vs. GG and TG: odds ratio = 2.278, P = 0.002, 95% confidence interval: 1.370-3.789; CC vs. AA and AC: odds ratio = 1.804, P = 0.025, 95% confidence interval: 1.079-3.017). The genotype distributions or allelic frequencies of ACE I/D, eNOS E298D, and p22phox -242 C/T did not significantly differ between the patients with BRVO and the control subjects. There was no significant difference between the central retinal vein occlusion patients and controls for the genotype or the allele frequency distributions of all evaluated single-nucleotide polymorphisms. CONCLUSION: Adiponectin +276 G/T and AGTR1 A1166C single-nucleotide polymorphism are likely to be risk factors for BRVO.


Asunto(s)
Adiponectina/genética , Polimorfismo de Nucleótido Simple , Receptor de Angiotensina Tipo 1/genética , Oclusión de la Vena Retiniana/genética , Rigidez Vascular/genética , Anciano , Estudios de Casos y Controles , Colesterol/sangre , Cartilla de ADN/química , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Técnicas de Genotipaje , Humanos , Masculino , Persona de Mediana Edad , NADPH Oxidasas/genética , Óxido Nítrico Sintasa de Tipo III/genética , Oportunidad Relativa , Peptidil-Dipeptidasa A/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Factores de Riesgo , Triglicéridos/sangre
16.
Rheumatol Int ; 35(5): 837-43, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25373542

RESUMEN

There are evidences that besides geographic tendency, interactions between genetic and environmental factors play an essential role in the pathogenesis of Behçet's disease (BD). In this study, we have evaluated the associations between rs4810485 and rs1883832 single nucleotide polymorphism (SNP)s of CD40 gene with the susceptibility and clinical findings of BD. Two hundred and eighty-five patients with BD and 225 age-matched healthy controls were enrolled in this study. The clinical findings of patients were noted. The distributions of genotypes, alleles, combined genotypes and haplotypes of these two SNPs in BD patients were compared with those in healthy controls. In further evaluation, we evaluated the patients with and without any of clinical findings with regarding to distribution of genotypes and alleles of these two SNPs. There was no significant difference concerning frequencies of genotypes, alleles, combined genotypes and haplotypes of rs4810485 and rs1883832 between patients and controls (p > 0.05 for all). Frequency of GT genotype of CD40 rs4810485 polymorphism was found to be significantly higher in patients with skin lesions (p < 0.05, OR 1.65, 95 % CI 1.02-2.64). Also, we have found significantly higher frequencies of CC genotype and C allele of CD40 rs1883832 polymorphism in patients with genital ulcers (p < 0.05 for both, OR 2.30, 95 % CI 1.07-4.94 and OR 1.78, 95 % CI 1.06-2.97, respectively). However, these significances were disappeared after Bonferroni correction. We suggest that differences in the expression levels of CD40 because of different genotypes of these two SNPs may take part in the development of skin lesions or genital ulcers in patients with BD.


Asunto(s)
Síndrome de Behçet/genética , Antígenos CD40/genética , Adulto , Alelos , Síndrome de Behçet/complicaciones , Antígenos CD40/metabolismo , Estudios de Casos y Controles , Femenino , Expresión Génica , Predisposición Genética a la Enfermedad , Enfermedades de los Genitales Femeninos/etiología , Enfermedades de los Genitales Femeninos/genética , Enfermedades de los Genitales Masculinos/etiología , Enfermedades de los Genitales Masculinos/genética , Genotipo , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido Simple , Enfermedades de la Piel/etiología , Enfermedades de la Piel/genética , Estomatitis Aftosa/etiología , Estomatitis Aftosa/genética , Úlcera/etiología , Úlcera/genética , Uveítis/etiología , Uveítis/genética
17.
Xenobiotica ; 44(10): 952-6, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24762091

RESUMEN

1. Fibromyalgia syndrome (FMS) is a common chronic widespread pain syndrome mainly affecting women. The aim of this study was to explore the frequency and clinical significance of catechol-O-methyltransferase (COMT) gene Val158Met polymorphism in a large cohort of Turkish patients with FMS. 2. The study included 379 FMS patients and 290 controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses. 3. The genotype frequencies of Val158Met polymorphism showed a small difference between FMS patients and healthy controls (p = 0.047), however, the Met/Met genotype was significantly higher in FMS patients than healthy controls (p = 0.016). No difference was observed for allele frequencies between two groups. Stratification analysis according to clinical features for this disease reveals that weight, FMS Impact Questionnaire score, algometry and Raynaud's syndrome, were detected to have statistically significant associations with Val158Met polymorphism (p = 0.037, p = 0.042, p = 0.039 and p = 0.033, respectively). Pain sensitivity, measured by algometry, was statistically higher in patients with Met/Met genotype than the patients with Val/Val and Val/Met genotypes (p = 0.017). 4. The results of this study suggested that COMT gene Val158Met polymorphism is positively associated with FMS and play a relevant role in the clinical symptoms of the disease.


Asunto(s)
Catecol O-Metiltransferasa/genética , Fibromialgia/genética , Adulto , Sustitución de Aminoácidos , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Índice de Severidad de la Enfermedad
18.
Mol Vis ; 19: 486-xxx, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23441121

RESUMEN

PURPOSE: To determine if the paraoxonase 1 L55M and paraoxonase 1 Q192R gene polymorphisms have an effect on the risk of having a retinal vein occlusion (RVO). METHODS: This case-control prospective study included 120 patients with RVO and 84 control subjects. All subjects were screened for age, gender, hypertension, diabetes, body mass index, fibrinogen, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, total cholesterol, and very low-density lipoprotein. Subjects were also questioned about their smoking habits. Genomic DNA was extracted from peripheral leukocytes from EDTA anticoagulated blood. Genotyping of the paraoxonase 1 L55M and paraoxonase 1 Q192R polymorphisms was performed using real-time PCR. RESULTS: The frequency of the paraoxonase 1 (PON1) 55 LL genotype was significantly lower in patients with RVO than in the control subjects (28% versus 55%; p = 0.005). Logistic regression analyses were also conducted. After adjusting for gender, diabetes, hypertension, plasma fibrinogen levels, and high-density lipoprotein cholesterol, the lower LL genotype was found to be an independent predictor of RVO (ß = 1.755; odds ratio = 5.783; p < 0.001; 95% confidence interval = 2.579-12.967). CONCLUSIONS: Subjects with a lower frequency PON1 55 LL genotype had a higher risk of RVO. These results indicate that paraoxonase gene polymorphisms may be a possible risk factor for RVO. We suggest that the LL genotype may have a protective role in the pathogenesis of RVO in the Turkish population.


Asunto(s)
Arildialquilfosfatasa/genética , Variación Genética , Oclusión de la Vena Retiniana/enzimología , Oclusión de la Vena Retiniana/genética , Adulto , Anciano , Anciano de 80 o más Años , Sustitución de Aminoácidos/genética , Estudios de Casos y Controles , Etnicidad/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Estudios Prospectivos , Oclusión de la Vena Retiniana/etiología , Factores de Riesgo , Turquía/etnología
19.
Mol Vis ; 19: 675-83, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23559861

RESUMEN

PURPOSE: Behçet's disease (BD) is a systemic vasculitis characterized by inflammatory lesions of the urogenital mucosa, eyes, skin, central nervous system, and joints. Vein thrombosis constitutes the most frequent vascular manifestation of the disease, and may cause such ocular vascular thrombotic events as central retinal vein and central retinal artery thrombosis. Thrombosis is a serious problem, and often leads to irreversible vision loss. Previous studies have shown that genetic factors predispose individuals to BD. Several cytokine genes might play crucial roles in host susceptibility to BD and to thrombophilia. Various polymorphic regions of the interleukin-4 (IL-4) gene (-1098G and 590T) are associated with BD in the Turkish population. This study was conducted in Turkish patients with BD to determine the frequency of the IL-4 gene 70 bp variable number of tandem repeats (VNTR) variant, and its association with clinical findings. METHODS: Genomic DNA obtained from 488 individuals (238 patients with Behçet's disease and 250 healthy controls) was used in the study. Genomic DNA was isolated and genotyped using PCR assay for the IL-4 gene 70 bp VNTR polymorphism determined by using PCR with the specific primers. RESULTS: There was statistical significance between the groups regarding IL-4 genotype distribution (p<0.001, odds ratio: 2.55 [1.629-4.052], 95% confidence interval) and allele frequencies (p<0.0012.381[1.586-3.617], 95% confidence interval). When we examined IL-4 genotype frequencies according to the clinical characteristics, we observed a statistically significant association between the P2P2 genotype and deep venous thrombosis (p=0.01). Deep venous thrombosis was also associated with ocular involvement in our study group (p=0.014). CONCLUSIONS: Our findings suggest that the IL-4 gene 70 bp VNTR polymorphism is associated with susceptibility to development of BD. Deep venous thrombosis is also associated with ocular involvement in BD. The IL-4 gene could be a genetic biomarker in Behçet's disease in a Turkish study population.


Asunto(s)
Síndrome de Behçet/genética , Oftalmopatías/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Interleucina-4/genética , Repeticiones de Minisatélite/genética , Trombosis de la Vena/genética , Adolescente , Adulto , Anciano , Síndrome de Behçet/complicaciones , Estudios de Casos y Controles , Demografía , Oftalmopatías/complicaciones , Femenino , Frecuencia de los Genes/genética , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Trombosis de la Vena/complicaciones , Adulto Joven
20.
Exp Eye Res ; 113: 151-5, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23791966

RESUMEN

Matrix metalloproteinases (MMPs) are large groups of zinc-dependent proteases that play an important role in many diseases and pathological processes such as cancer, angiogenesis, atherosclerosis, and vascular disease. Also, it was found that the expression of MMPs was high during the initial period of thrombosis in a rat model of traumatic deep vein thrombosis. Moreover, the presence of metalloproteinase activity and endogenous inhibitor activity in vitrectomy samples are associated with neovascularization of several retinal diseases such as exudative age related maculopathy, proliferative diabetic retinopathy, and central retinal vein occlusion. In this study, we aimed to investigate the possible association of the matrix metalloproteinase 2-1306C/T (rs 243865) and tissue inhibitors of matrix metalloproteinase 2 G-418C (rs 8179090) polymorphisms with the risk of retinal vein occlusion (RVO). Genomic DNA was extracted from peripheral leukocytes from ethylenediaminetetraacetic acid anticoagulated blood. Genotyping of the MMP2-1306C/T and TIMP2G-418C polymorphisms were performed using real-time polymerase chain reaction. The MMP2-1306 T allele carriers (CT + TT) had a significantly increased risk of RVO compared with the CC homozygotes (p < 0.001, odds ratio = 4.78; 95% CI = 2.85-8.09). After adjusting for hypertension, diabetes, hypertriglyceridemia, and hypercholesterolemia, MMP2-1306 T allele carriers (CT + TT) also had a significantly increased risk of RVO (B = 1.453; p < 0.001; odds ratio = 4.275; 95% CI:2.529-7.224). MMP2-1306C/T, but not TIMP2G-418C, gene variants are a risk factor for the development of retinal vein occlusion.


Asunto(s)
Metaloproteinasa 2 de la Matriz/genética , Polimorfismo de Nucleótido Simple , Oclusión de la Vena Retiniana/genética , Inhibidor Tisular de Metaloproteinasa-2/genética , Índice de Masa Corporal , Diabetes Mellitus/diagnóstico , Femenino , Angiografía con Fluoresceína , Frecuencia de los Genes , Genotipo , Humanos , Hipertensión/diagnóstico , Lípidos/sangre , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Oftalmoscopía , Reacción en Cadena en Tiempo Real de la Polimerasa , Oclusión de la Vena Retiniana/diagnóstico , Factores de Riesgo
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