Browsing by Author "Ozcakar, Z. Birsin"

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    Early Effects of Renal Replacement Therapy on Cardiovascular Comorbidity in Children With End-Stage Kidney Disease: Findings From the 4C-T Study
    (2018) Schmidt, Bernhard M. W.; Sugianto, Rizky Indrameikha; Thurn, Daniela; Azukaitis, Karolis; Bayazit, Aysun K.; Canpolat, Nur; Eroglu, Ayse Guler; Caliskan, Salim; Doyon, Anke; Duzova, Ali; Karagoz, Tevfik; Anarat, Ali; Deveci, Murat; Mir, Sevgi; Ranchin, Bruno; Shroff, Rukshana; Baskin, Esra; Litwin, Mieczyslaw; Ozcakar, Z. Birsin; Buscher, Rainer; Soylemezoglu, Oguz; Dusek, Jiri; Kemper, Markus J.; Matteucci, Maria C.; Habbig, Sandra; Laube, Guido; Wuehl, Elke; Querfeld, Uwe; Sander, Anja; Schaefer, Franz; Melk, Anette; https://orcid.org/0000-0002-3316-8032; 28926375; B-5785-2018
    Background The early impact of renal transplantation on subclinical cardiovascular measures in pediatric patients has not been widely investigated. This analysis is performed for pediatric patients participating in the prospective cardiovascular comorbidity in children with chronic kidney disease study and focuses on the early effects of renal replacement therapy (RRT) modality on cardiovascular comorbidity in patients receiving a preemptive transplant or started on dialysis. Methods We compared measures indicating subclinical cardiovascular organ damage (aortal pulse wave velocity, carotid intima media thickness, left ventricular mass index) and evaluated cardiovascular risk factors in 166 pediatric patients before and 6 to 18 months after start of RRT (n = 76 transplantation, n = 90 dialysis). Results RRT modality had a significant impact on the change in arterial structure and function: compared to dialysis treatment, transplantation was independently associated with decreases in pulse wave velocity (ss = -0.67; P < 0.001) and intima media thickness (ss = -0.40; P = 0.008). Independent of RRT modality, an increase in pulse wave velocity was associated with an increase in diastolic blood pressure (ss = 0.31; P < 0.001). Increasing intima media thickness was associated with a larger increase in body mass index (ss = 0.26; P = 0.003) and the use of antihypertensive agents after RRT (ss = 0.41; P = 0.007). Changes in left ventricular mass index were associated with changes in systolic blood pressure (ss = 1.47; P = 0.01). Conclusions In comparison with initiating dialysis, preemptive transplantation prevented further deterioration of the subclinical vascular organ damage early after transplantation. Classic cardiovascular risk factors, such as hypertension and obesity are of major importance for the development of cardiovascular organ damage after renal transplantation.
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    HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction
    (2015) Bulum, Burcu; Ozcakar, Z. Birsin; Duman, Duygu; Cengiz, Filiz Basak; Kavaz, Asli; Burgu, Berk; Baskin, Esra; Cakar, Nilgun; Soygur, Tarkan; Ekim, Mesiha; Tekin, Mustafa; Yalcinkaya, Fatos; 0000-0003-4361-8508; 25924634; B-5785-2018
    Background: Urofacial syndrome (UFS) is characterised by congenital bladder dysfunction accompanied by a characteristic abnormal grimace upon smiling and crying. In recent years, biallelic mutations of HPSE2 and LRIG2 have been reported in UFS patients. Non-neurogenic neurogenic bladder (NNNB) has a bladder identical to UFS without typical facial features. The aim of this study was to analyse HPSE2 mutations in patients with UFS and NNNB or severe lower urinary tract dysfunction (LUTD) without abnormal facial expression. Methods: Patients with UFS, NNNB and severe LUTD were enrolled in the study. We examined a total of 35 patients from 33 families. There were seven UFS patients from five different families, 21 patients with NNNB and seven with LUTD. HPSE2 gene mutation analysis was performed using the polymerase chain reaction protocol followed by Sanger sequencing in these patients. Results: A twin pair with UFS was found to be homozygous for c.457C>T (p.Arg153*) mutation. No other pathogenetic variant was detected. Conclusion: HPSE2 mutations were found in one UFS family but not detected in patients with NNNB and severe LUTD. Considering the increasingly recognised cases of NNNB that were diagnosed in early childhood period, genetic factors appear to be responsible. Thus, further genetic studies are needed to discover novel associated gene variants in these bladder anomalies. (C) 2015 S. Karger AG, Basel