Tıp Fakültesi / Faculty of Medicine
Permanent URI for this collectionhttps://hdl.handle.net/11727/1403
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Item The Clinical Characteristics and Prognosis of Exon 2 Mutations in Familial Mediterranean Fever(2023) Avci, Begum; Parmaksiz, Gonul; Sahin, Feride; Noyan, Aytul; 0000-0001-7308-9673; AAC-7232-2020Objective: It is unclear whether exon 2 mutations are variations or mutations that causes the disease. This study aimed to evaluate the clinical features and prognosis exon 2 mutations in Familial Mediterranean Fever. Methods: The clinical features, disease severity and prognosis of all patients with at least one exon 2 mutations were evaluated retrospectively. These data were compared separately for homozygous (Group 1), heterozygous (Group 2), compound heterozygous (Group 3), and complex alleles (Group 4), and the data were compared by grouping patients into those with and without exon 10 mutations. Results: There were a total of 119 patients with exon 2 mutations, including 11.7% in Group 1, 36.1% in Group 2, 21.8% in Group 3, and 30.2% in Group 4 were similar in terms of demographic data, clinical characteristics, and disease course. When compared patients with exon 10 mutations (+) to those with exon 10 mutations (-), the exon 10 mutations (+) group had a higher presence of chest pain (100%, p = 0.02) and a significantly higher mean Pras severity score (6.66 +/- 1.87, 6.01 +/- 1.40; p=0.02). Additionally, a higher number of patients with exon 10 mutation (-) achieved remission with treatment (76 (67.9%), 36 (32.1%); p = 0.03). Conclusion: Exon 2 mutations have a milder course and higher remission rates but they should be considered as Familial Mediterranean Fever disease because of their similar clinical presentation and response to colchicine treatment with exon 10 mutations. Early treatment and close follow- up should be performed.Item The African Variant of BKV in A Turkish Renal Transplant Patient(2014) Colakoglu, Sule; Dursun, Hasan; Cengiz, Nurcan; Bulat, Meryem Cosar; Noyan, Aytul; https://orcid.org/0000-0002-8817-494X; 24726687; AAB-7105-2020; GPX-7059-2022; AAD-5713-2021In renal transplant recipients, BK polyomavirus (BKV) is linked to nephropathy. BK virus genotypes have a strong geographic component. This paper presents the African variant of BKV in a Turkish renal transplant patient, which is a rare cause of infection in the Northern Hemisphere and, to our knowledge, the first case from Turkey. (C) 2014 Elsevier Inc. All rights reserved.Item Plasma-Exchange Treatment for Severe Carbamazepine Intoxication: A Case Study(2014) Kozanoglu, Ilknur; Kahveci, Suat; Asma, Suheyl; Yeral, Mahmut; Noyan, Aytul; Boga, Can; Ozdogu, Hakan; https://orcid.org/0000-0002-5268-1210; https://orcid.org/0000-0001-5335-7976; https://orcid.org/0000-0002-9580-628X; https://orcid.org/0000-0002-8902-1283; 24136443; AAE-1241-2021; AAI-7831-2021; ABC-4148-2020; AAD-5713-2021; AAD-6222-2021; AAD-5542-2021Acute poisoning is an important cause of morbidity and mortality during childhood. This manuscript reports the positive outcome of a pediatric case with a history of accidental carbamazepine intake treated using plasma exchange. A 3-year-old male presented with severe carbamazepine intoxication. He was comatose and had generalized tonic clonic seizure, ventricular tachycardia, and hypotension. Although he did not respond to classical therapies, we performed two sessions of plasma exchange. The patient recovered rapidly and was discharged from the hospital six days from the time of carbamazepine ingestion with no complication or neurologic impairment. Plasma exchange can be performed safely in very small children, and it might be the first line treatment, particularly for intoxication with drugs that have high plasma-protein-binding properties. (C) 2013 Wiley Periodicals, Inc.Item Value of Sonographic Anterior-Posterior Renal Pelvis Measurements Before and After Voiding for Predicting Vesicoureteral Reflux in Children(2015) Demir, Senay; Tokmak, Naime; Cengiz, Nurcan; Noyan, Aytul; 0000-0002-4209-9075; 25545034; GPX-7059-2022; AAD-5713-2021; AAK-9310-2021PurposeVoiding cystourethrography (VCUG) is the gold standard for diagnosing vesicoureteral reflux (VUR), but it is important to minimize the use of VCUG because of the urinary catheterization and radiation exposure required. Ultrasound (US) observations suggest that pelvicalyceal dilatation varies according to the degree of bladder fullness in children with urinary tract infection. The aim of this study was to assess whether anterior-posterior (AP) measurements of the renal pelvis on US before and after voiding can be used as a screening tool while predicting the presence of VUR in children. MethodsThe subjects were toilet-trained children older than 4 years who required VCUG. Two groups were established based on the VCUG results: a VUR group of 40 kidney units (each unit defined as calyces and ureter) that exhibited different severities of reflux, and a control group of 68 kidney units unaffected by VUR. Prior to VCUG, US AP measurements of the renal pelvis of each kidney unit were recorded when the urinary bladder was full and again after bladder emptying. The change in AP measurement from before to after voiding was compared between the two groups. ResultsThe mean change in AP measurements from before to after voiding in the VUR group was significantly greater than that in the control group (p=0.003). ConclusionsComparing US AP measurements of the renal pelvis before and after voiding is useful for identifying children who are suspected to have VUR and thus require immediate VCUG. (c) 2014 Wiley Periodicals, Inc. J Clin Ultrasound 43:490-494 2015Item Urinary NGAL, KIM-1 and L-FABP Concentrations in Antenatal Hydronephrosis(2015) Noyan, Aytul; Parmaksiz, Gonul; Dursun, Hasan; Ezer, Semire Serin; Anarat, Ruksan; Cengiz, Nurcan; 0000-0002-8817-494X; 0000-0003-2373-1837; 0000-0002-9597-3264; 26096437; AAJ-9529-2021; AAB-7105-2020; AAD-5713-2021; AAW-8783-2020; GPX-7059-2022; AAM-2935-2021The clinical tests currently in use for obstructive nephropathy (such as renal ultrasonography, differential radionuclide renal scans and urinary creatinine concentration data) are not efficient predictors of the subsequent clinical course. Novel and simple biomarkers are required which, if proven, could be clinically beneficial in determining if a patient is eligible for surgery or reno-protective therapy. More recently, the interest of clinicians has focused on the potential of urinary neutrophil gelatinase-associated lipocalin (uNGAL), urinary kidney injury molecule-1 (uKIM-1) and urinary liver-type fatty acid-binding proteins (uL-FABP) as biomarkers for renal function in children with hydronephrosis (HN). Objective The purpose of this study was to investigate possible clinical applications of uNGAL, uKIM-1 and uL-FABP as beneficial non-invasive biomarkers to determine whether or not surgical intervention is required in children with HN. Study design Renal ultrasonography and radionuclide renal scans were used as diagnostic tools to detect HN. Patients were divided into two groups based on the anteroposterior diameter of their renal pelvis and the presence of dysfunction. Group 1 included 26 children with severe HN (with dysfunction), and group 2 consisted of 36 children with mild HN (without dysfunction). Urine samples were collected from 62 children with HN and 20 healthy children. Results Hydronephrosis was more common in males than in females, with a male to female ratio of 9: 1 in the study sample. The incidence of left kidney involvement (32 patients) was slightly higher than right kidney involvement (28 patients). Compared with controls and group 2, the ratio of uNGAL to creatinine was significantly higher in group 1 (p < 0.05). The biomarker uNGAL/Cr exhibited fairly good diagnostic accuracy, with an area under the curve of 0.68 [95% confidence interval 0.6-0.7] and an optimal cut-off value of 0.16 ng/mg Cr (sensitivity 58%, specificity 75%) (p < 0.05). There was a positive correlation between the uNGAL/Cr ratio and the uKIM-1/Cr ratio (r = 0.582, p < 0.05) and uL-FABP/Cr ratio (r = 0675, p < 0.05) in group 1. Discussion The results clearly demonstrated that children with hydronephrosis and dysfunction had significantly increased uNGAL, and uNGAL/Cr concentrations. However, uKIM-1, uKIM-1/Cr, uL-FABP and uL-FABP/Cr concentrations were not significantly different when compared with controls. These results support the use of uNGAL concentrations as an early marker for renal dysfunction in HN. Conclusions The study clearly demonstrated that pediatric patients with hydronephrosis and dysfunction had significantly higher uNGAL to creatinine concentrations as compared with controls.Item Role of New Biomarkers for Predicting Renal Scarring in Vesicoureteral Reflux: NGAL, KIM-1, And L-FABP(2016) Parmaksiz, Gonul; Noyan, Aytul; Dursun, Hasan; Ince, Emine; Anarat, Ruksan; Cengiz, Nurcan; https://orcid.org/0000-0003-2373-1837; 26324091; AAM-2935-2021; AAD-5713-2021; AAW-8783-2020Reflux nephropathy is the most serious complication of vesicoureteral reflux (VUR). The aim of this study was to assess the role of urinary levels of neutrophil-gelatinase-associated lipocalin (NGAL),kidney injury molecule-1 (KIM-1), and liver-type fatty-acid-binding protein (L-FABP) in the early diagnosis of reflux nephropathy in patients with VUR. This study assessed 123 patients with primary VUR and 30 healthy children as a control group. The children were divided into five groups: Group A, patients with VUR and renal parenchymal scarring (RPS); Group B, patients with VUR and without RPS; Group C, patients with RPS and resolved VUR; Group D, patients with resolved VUR and without RPS; Group E, healthy reference group. Median urinary NGAL (uNGAL)/Creatinine (Cr) was significantly higher in patients with than those without RPS and the control group (p = 0.0001). Median uKIM-1/Cr was similar in all groups (p = 0.417). Median uL-FABP/Cr was significantly higher in patients with RPS than in the reference group (p < 0.05). Urinary NGAL levels may be used as a noninvasive diagnostic marker for predicting renal scarring in reflux nephropathy.Item Genotypic and Phenotypic Features of the Cystinosis Patients from the South Eastern Part of Turkey(2016) Onenli-Mungan, Neslihan; Kor, Deniz; Karabay-Bayazit, Aysun; Cengiz, Nurcan; Yavuz, Sevgi; Noyan, Aytul; Ceylaner, Gulay; Seker Yilmaz, Berna; Topaloglu, Ali Kemal; Yuksel, Bilgin; Anarat, Ali; 28276207; GPX-7059-2022We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients from 20 families, who have been treated and followed up after being diagnosed with cystinosis. Nine patients were identified with mutations of homozygous c. 451A>G, 7 patients with homozygous c. 681G>A, 6 patients with homozygous c. 834_842del, 2 patients with homozygous c. 18_21delGACT and 1 patient with compound heterozygous for c. 451A>G/c. 1015G>A. The c. 834_842del mutation identified in six patients from four families has not been previously identified. Progression to renal failure occurred earlier in the patients identified with the new mutation, despite treatment. Larger patient series are required to demonstrate the genotypic properties of the patients with cystinosis and their relationship with the clinical course.Item Cytomegalovirus Infection in Pediatric Renal Transplantation and the Impact of Chemoprophylaxis With (Val-)Ganciclovir(2016) Hoecker, Britta; Zencke, Sebastian; Krupka, Kai; Fichtner, Alexander; Pape, Lars; Dello Strologo, Luca; Guzzo, Isabella; Topaloglu, Rezan; Kranz, Birgitta; Koenig, Jens; Bald, Martin; Webb, Nicholas J. A.; Noyan, Aytul; Dursun, Hasan; Marks, Stephen; Yalcinkaya, Fatos; Thiel, Florian; Billing, Heiko; Pohl, Martin; Fehrenbach, Henry; Bruckner, Thomas; Toeshoff, Burkhard; https://orcid.org/0000-0002-8817-494X; 26736017; AAD-5713-2021; AAB-7105-2020Background. Cytomegalovirus (CMV) replication and disease, with its associated morbidity and poor transplant outcome, represents a serious threat to transplant recipients. The pediatric kidney transplant population is at a particularly increased risk of CMV infection. Methods. We therefore analyzed CMV epidemiology in a large cohort of pediatric renal transplant recipients (n = 242) and assessed the impact of antiviral chemoprophylaxis with valganciclovir (VGCV) or ganciclovir (GCV) on CMV replication and morbidity. Results. While antiviral chemoprophylaxis with VGCV or GCV in patients with a high (D+/R-) or intermediate (D+/R+) CMV risk (n = 82) compared to preemptive therapy (n = 47) had no significant effect on the incidence of CMV syndrome or tissue-invasive disease, chemoprophylaxis was associated with a better preservation of transplant function at 3 years posttransplant (loss of estimated glomerular filtration rate in the chemoprophylaxis cohort, 16.0 +/- 3.4 vs. 30.1 +/- 4.7 mL/min per 1.73 m(2) in the preemptive therapy cohort, P < 0.05). CMV replication was associated with amore pronounced decline of graft function (difference in estimated glomerular filtration rate of 9.6 mL/min per 1.73 m(2) at 3 years) compared to patients without CMV replication. However, patients undergoing VGCV or GCV chemoprophylaxis had more leukocytopenia. Conclusion. Antiviral chemoprophylaxis with VGCV or GCV in recipients with a high or moderate CMV risk is associated with a better preservation of transplant function. Hence, the prevention of CMV replication in this patient population has the potential to improve transplant outcome.Item Effect of The Timing of Dialysis Initiation on Left Ventricular Hypertrophy and Inflammation in Pediatric Patients(2017) Bakkaloglu, Sevcan A.; Kandur, Yasar; Serdaroglu, Erkin; Noyan, Aytul; Bayazit, Aysun Karabay; Sever, Lale; Ozlu, Sare Gulfem; Ozcelik, Gul; Dursun, Ismail; Alparslan, Caner; 2-s2.0-85017214984; AAD-5713-2021Background The optimal time for dialysis initiation in adults and children with chronic kidney disease remains unclear. The aim of this study was to evaluate the impact of dialysis timing on different outcome parameters, in particular left ventricular (LV) morphology and inflammation, in pediatric patients receiving peritoneal dialysis and hemodialysis. Methods The medical records of pediatric dialysis patients who were followed-up in nine pediatric nephrology centers in Turkey between 2008 and 2013 were retrospectively reviewed. In addition to demographic data, we retrieved anthropometric measurements, data on dialysis treatment modalities, routine biochemical parameters, complete blood count, serum ferritin, parathormone, C-reactive protein (CRP), and albumin levels, as well as echocardiographic data and hospitalization records. The patients were divided into two groups based on their estimated glomerular filtration rate (eGFR) levels at dialysis initiation, namely, an early-start group, characterized by an eGFR of > 10 ml/min/1.73 m(2), and a late-start group, with an eGFR of < 7 ml/min/1.73 m(2). The collected data were compared between these groups. Results A total of 245 pediatric dialysis patients (mean age +/- standard deviation 12.3 +/- 5.1 years, range 0.5-21 years) were enrolled in this study. Echocardiographic data were available for 137 patients, and the mean LV mass index (LVMI) was 58 +/- 31 (range 21-215) g/m(2.7). The LVMI was 75 +/- 30 g/ m(2.7)(n = 81) and 34 +/- 6 g/m(2.7)(n = 56) in patients with or without LV hypertrophy (LVH) (p < 0.001). Early-start (eGFR > 10 ml/min/1.73 m(2)) versus late-start dialysis (eGFR < 7 ml/ min/1.73 m(2)) groups did not significantly differ in LVMI and LVH status (p > 0.05) nor in number of hospitalizations. Serum albumin levels were significantly higher in the earlydialysis group compared with the late-dialysis group (3.3 +/- 0.7 vs. 3.1 +/- 0.7 g/dl, respectively; p < 0.05). The early-start group had relatively higher time-averaged albumin levels (3.2 +/- 0.5 vs. 3.1 +/- 0.5 g/dl; p = > 0.05) and relatively lower CRP levels (3.64 +/- 2.00 vs. 4.37 +/- 3.28 mg/L, p > 0.05) than the late-start group, but these differences did not reach statistical significance. Conclusion Although early dialysis initiation did not have a significant effect on important clinical outcome parameters, including LVH, inflammatory state, and hospitalization, in our pediatric dialysis patients, this area of study deserves further attention.Item Dyslipidemia After Pediatric Renal Transplantation-The Impact of Immunosuppressive Regimens(2017) Habbig, Sandra; Volland, Ruth; Krupka, Kai Kai; Querfeld, Uwe; Dello Strologo, Luca; Yalcinkaya, Fatos; Noyan, Aytul; Topaloglu, Rezan; Webb, Nicholas J. A.; Kemper, Markus J.; Pape, Lars; Bald, Martin; Kranz, Birgitta; Taylan, Christina; Hoecker, Britta; Toenshoff, Burkhard; Weber, Lutz T.; 28370750; AAD-5713-2021Dyslipidemia contributes to cardiovascular morbidity and mortality in pediatric transplant recipients. Data on prevalence and risk factors in pediatric cohorts are, however, scarce. We therefore determined the prevalence of dyslipidemia in 386 pediatric renal transplant recipients enrolled in the CERTAIN registry. Data were obtained before and during the first year after RTx to analyze possible non-modifiable and modifiable risk factors. The prevalence of dyslipidemia was 95% before engraftment and 88% at 1year post-transplant. Low estimated glomerular filtration rate at 1year post-transplant was associated with elevated serum triglyceride levels. The use of TAC and of MPA was associated with significantly lower concentrations of all lipid parameters compared to regimens containing CsA and mTORi. Immunosuppressive regimens consisting of CsA, MPA, and steroids as well as of CsA, mTORi, and steroids were associated with a three- and 25-fold (P<.001) increased risk of having more than one pathologic lipid parameter as compared to the use of TAC, MPA, and steroids. Thus, amelioration of the cardiovascular risk profile after pediatric RTx may be attained by adaption of the immunosuppressive regimen according to the individual risk profile.