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Öğe Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population(Aves, 2020) Sezgin, Ilhan; Kayatas, Mansur; Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Timucin, Meryem; Bagci, GokhanObjective: Autosomal dominant polycystic kidney disease (ADPKD), one of the most common causes of end-stage renal disease, is a monogenic, multisystemic disease characterized by renal cysts and various extrarenal findings. ADPKD is caused by mutations in the polycystic kidney disease 1 (PKD1) (16p13.3) and PKD2 (4q22.1) genes. The genetic analysis of the PKD1 gene is complex because of its large size, the presence of 6 pseudogenes, and allelic heterogeneity. In this study, we aimed to identify the mutations of the PKD1 gene in patients with ADPKD in Sivas, Turkey. Materials and Methods: A total of 27 patients who were diagnosed with ADPKD were included in this study. Their mean age and body mass indices were determined. The gene variants were analyzed by targeted next-generation sequencing method. Results: In 17 (64.3%) of the 27 patients, the variants were detected in PKD1 and/or PKD2 genes. There were 13 patients (48.1%) with PKD1 gene variants and 5 (18.5%) with PKD2 gene variants. Of the 17 patients, 1 had both PKD1 and PKD2 gene variants. We observed that 16 patients with ADPKD (66.6%) had hypertension, and liver cysts were detected in 9 (33.3%) patients. Conclusion: PKD1 gene mutations were found in a significant number of patients with ADPKD, and hypertension is a frequently observed finding in them. In some patients, liver cysts may accompany the clinical picture of ADPKD. Our findings provide important insights for the genetic counseling of these patients.Öğe Association Between ABCB1 (MDR1) Gene Polymorphism and Unresponsiveness Combined Therapy in Chronic Hepatitis C virus(KOWSAR PUBL, 2013) Timucin, Meryem; Alagozlu, Hakan; Ozdemir, Semra; Ozdemir, OzturkBackground: To treat viral infection of chronic hepatitis C (CHC) is a main strategy to prevent progression of liver disease, and cancer. Some patients with CHC have failed to respond to the common antiviral therapy in different populations. Objectives: In the current study it was aimed to find out the possible role of multiple drug resistance gene1 (MDR1) in non-responder patients with CHC infection in Turkish population. Patients and Methods: Peripheral blood-EDTA samples were used for total genomic DNA isolation. In total of 55 patients with chronic hepatitis C and positive results for genotype 1 [31 male (56.4%), 24 female (43.6%) and mean age-min-max; 56.9 +/- 9.66 (39-71)]; 19 responder (34.5%), 21 non responder (38.2%), and 15 recurrence (27.3%) were included in the presented results. Functional MDR1 gene was genotyped by multiplex PCR-based reverse-hybridization Strip Assay method, and some samples were confirmed by direct sequencing. Results: Our results indicate that MDR1 gene polymorphism is strongly associated with non-responder patients and those with recurrent chronic hepatitis C during conventional drug therapy when compared to the responder patients. Homozygous of the TT genotype for MDR1 exon 26 polymorphism was at 2.0-fold higher risk of non-responder than patients with CC and CT. Conclusions: The homozygous MDR1 3435TT genotype which encodes the xenobiotic transporter P-glycoprotein may be associated with a poor antiviral response in HCV chronicity during conventional therapy, and large-scale studies are needed to validate this association.Öğe A Case of Acute Renal Failure Caused by Hodgkin's Lymphoma: Concurrent Membranous Glomerulonephritis and Interstitial HL-CD 20 Lymphoid Infiltration(INFORMA HEALTHCARE, 2011) Kayatas, Mansur; Yildiz, Gursel; Timucin, Meryem; Candan, Ferhan; Yildiz, Esin; Sencan, MehmetAlthough acute renal failure developing due to malignancies is a frequent condition, malignant renal infiltration is rarely observed among these causes. Among all malignant diseases, the hematolymphoid malignancies are the most prone to renal infiltration. Other types involved in cases with lymphoma are glomerulopathies, including immune-complex glomerular diseases such as minimal change disease, membranous glomerulonephritis, membranoproliferative glomerulonephritis, and focal segmental glomerulosclerosis. We present herein the rare case of a 22-year-old male with both membranous glomerulonephritis and CD20 (+) lymphoid infiltration related to Hodgkin's lymphoma in the renal interstitial tissue, as detected on biopsy. The patient was treated with adriamycin, bleomycin, vinblastine, and dacarbazine protocol after pulse corticosteroid treatment, and a dramatic improvement in renal function was observed after 2 days of treatment. In this article, an exceptional renal involvement of Hodgkin's lymphoma is discussed in light of the related literature.Öğe Catheter-Related Bacteremia due to Enterobacter ludwigii in a Hemodialysis Patient: First Report in the Literature(TURK NEFROLOJI DIYALIZ TRANSPLANTASYON DERGISI, 2018) Koz, Suleyman; Oguz, Esin; Timucin, Meryem; Buyuktuna, Seyit Ali; Bakici, Mustafa Zahir; Candan, Ferhan; Kayatas, MansurThe Enterobacter cloacae complex, a member of the genus Enterobacter, consists of a group of bacteria that are responsible for serious infections in human beings. A recently identified member of the group, Enterobacter ludwigii sp, is an emerging source of clinically important infections, but, up until now, there has been no report of catheter related bacteremia due to Enterobacter ludwigii sp. in hemodialysis patients. We report a hemodialysis patient with catheter related bacteremia due to Enterobacter ludwigii sp. whose infection improved only partially by antibiotics that were expected to be fully effective, based on antibiotic susceptibility testing; the infection could be cured only after removal of the catheter.Öğe Coexistence of Systemic Lupus Erythematosus and Familial Mediterranean Fever(JAPAN SOC INTERNAL MEDICINE, 2010) Yildiz, Guersel; Kayatas, Mansur; Uygun, Yasemin; Timucin, Meryem; Candan, FerhanClinical symptoms and findings of familial Mediterranean fever (FMF), occur as a result of autoimmune inflammation of the serous membrane which is also seen in systemic lupus erythematosus (SLE). Difficulties are sometimes encountered in the differential diagnosis of FMF because of similar clinical features with other autoimmune inflammatory diseases, and very rarely it can be seen with SLE. The association of FMF and SLE has been reported in one childhood case in Turkey. As far as we know, there is no report in the adult age group. Here, we present the first FMF and SLE association in an adult and discuss the pertinent literature in Turkey.Öğe Double serum sampled glomerular filtration rate measurement with technetium-99m diethylenetriamine-penta acetate for evaluation of renal functions in patients with psoriasis vulgaris(Deri Zuhrevi Hastaliklar Dernegi, 2021) Guner, Rukiye Yasak; Hayta, Sibel Berksoy; Akyol, Melih; Hasbek, Zekiye; Ozcelik, Sedat; Timucin, MeryemBackground and Design: Psoriasis is a common chronic inflammatory skin disease believed to affect renal functions. Glomerular filtration rate (GFR) is the most important indicator used to assess renal functions. The present study aims to measure the renal function of psoriasis patients via the technetium-99m diethylenetriamine pentaacetate (Tc-99m DTPA) method and compare the values obtained with those determined through indirect measurement methods, such as the modification of diet in renal disease (MDRD) and chronic kidney disease epidemiology collaboration (CKD-EPI), considering the effects of systemic treatments and comorbidities. Materials and Methods: Eighty-seven patients diagnosed with chronic plaque-type psoriasis vulgaris were included in this study. The patients' demographic characteristics, disease duration, psoriasis area and severity index score, drugs received for psoriasis treatment, comorbidities, and drugs received for comorbidity treatment were noted. Estimated GFRs were also calculated using the MDRD and CKD-EPI formulas. Results: Tc-99m DTPA values were affected only by age. As the patient age increased, a significant decrease in GFR measured with Tc-99m DTPA (r=0.289, p<0.001) was observed. Conclusion: Psoriasis, comorbidities, and nephrotoxic drugs used for treatment did not affect renal functions. GFR measurements were affected only by age.Öğe The endemic RTL80V/I and RTM204V/I YMDD mutation profiles in a case of chronic hepatitis B(SPRINGER, 2011) Ozdemir, Ozturk; Alagozlu, Hakan; Timucin, Meryem; Ozdemir, Semra; Korkmaz, Mehmet; Koksal, Binnur; Ozen, Ozen…Öğe Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis(SPRINGER LONDON LTD, 2017) Huzmeli, Can; Candan, Ferhan; Bagci, Gokhan; Alaygut, Demet; Yilmaz, Ali; Gedikli, Asim; Bagci, Binnur; Timucin, Meryem; Sezgin, Ilhan; Kayatas, MansurPrimary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence of FMF in patients diagnosed with biopsy-proven primary glomerulonephritis (GN). A total of 64 patients with biopsy-proven primary GN were included in the study. MEFV gene mutations examined retrospectively. The mean age of patients was 39.6 +/- 13.4 (range 18-69), 35 of patients were female and 29 of patients were male. Of the 64 patients, 17 were mesangial proliferative glomerulonephritis (MsPGN), 15 were IgA nephropathy (IgAN), 12 were membranous glomerulonephritis (MGN), 11 were focal segmental glomerulosclerosis (FSGS), three were membranous proliferative glomerulonephritis (MPGN), three were immune complex glomerulonephritis (ICGN), two were minimal change disease (MCD), and one was IgM nephropathy (IgMN). MEFV gene mutation was detected in 35.9% (23) of these patients. The most frequently detected mutations were E148Q and M694V. Twelve cases (18.75% of GN patients) with MEFV gene mutation were diagnosed as FMF phenotype I. The frequency of MEFV gene mutation was detected at a high rate of 35.9%. Further studies with larger populations are needed to clarify the importance of these mutations on clinical progression of glomerulonephritis.Öğe The relationship between restless leg syndrome and 25-hydroxy D vitamin in hemodialysis patients(DERMAN MEDICAL PUBL, 2018) Huzmeli, Can; Candan, Ferhan; Timucin, Meryem; Alaygut, Demet; Akkaya, Lale; Seker, Ayse; Kayatas, MansurAim: The purpose is to evaluate the relationship between Restless legs syndrome (RLS) and 25-Hydroxy D [25 (OH) D] vitamin level among hemodialysis patients. Material and Method: Hemodialysis patients, in Cumhuriyet University Faculty of Medicine Department of Nephrology were included in this study. Patients were asked about the diagnosis criteria of the International RLS study group and their laboratory examinations along with 25 (OH) D vitamin levels were assessed. Results: Seventy-five patients, 40 of whom were female, were included in the study. The average age of patients was 57.8 (19-84). Average 25 (OH) vitamin D levels of 75 patients in total were found to be 12.6 +/- 6.27 (3-30). Five patients had 25 (OH) D vitamin insufficiency and 70 had 25 (OH) D vitamin deficiency. Thirty-three patients were diagnosed with RLS and their average vitamin D levels were 10.76 +/- 4.56; the D levels of 42 patients not diagnosed with RLS were found to be 14.18 +/- 7.02. A significant relationship was determined between the patients diagnosed with RLS and their vitamin D levels (p=0.018). Discussion: A significant relationship was determined between RLS and 25 (OH) vitamin D level among hemodialysis patients. The fact that frequency of RLS was higher among hemodialysis patients compared to the general population may be related to low levels of 25 (OH) D vitamin.
