Browsing by Author "Burgu, Berk"

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    Analysis of Hpse2 Gene Mutations in Children with Non-neurogenic Neurogenic Bladder and Urofacial (ochoa) Syndrome
    (2014) Bulum, Burcu; OzCakar, Z. Birsin; Duman, Duygu; Cengiz, Filiz Basak; Burgu, Berk; Cakar, Nilgun; Baskin, Esra; Soygur, Tarkan; Ekim, Mesiha; Tekin, Mustafa; Yalcinkaya, Fatos; https://orcid.org/0000-0003-4361-8508; B-5785-2018
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    Does Structured Withdrawal of Desmopressin Improve Relapse Rates in Patients with Monosymptomatic Enuresis?
    (2014) Gokce, Mehmet Ilker; Hajiyev, Parviz; Suer, Evren; Kibar, Yusuf; Silay, Mesrur Selcuk; Gurocak, Serhat; Dogan, Hasan Serkan; Irkilata, Hasan Cem; Oktar, Tayfun; Onal, Bulent; Erdem, Erim; Aygun, Yuksel Cem; Balci, Can; Arslan, Ahmet Ruknettin; Kaya, Cevdet; Soygur, Tarkan; Sarikaya, Saban; Tekgul, Serdar; Burgu, Berk; https://orcid.org/0000-0002-6232-4313; 24518770; AAM-3015-2021
    Purpose: Relapse after cessation of desmopressin is an important problem in treating patients with enuresis. Structured withdrawal of desmopressin tablets has been shown to decrease relapse rates. However, scientific data are lacking on the structured withdrawal of the fast melting oral formulation of desmopressin. We compared relapse rates of structured withdrawal using placebo and direct cessation in a population of patients with enuresis who were desmopressin responders. Materials and Methods: Patients diagnosed with enuresis and responding to desmopressin from 13 different centers were involved in the study. Patients were randomized into 4 groups. Two different structured withdrawal strategies were compared to placebo and direct withdrawal. Sample size was estimated as 240 (60 patients in each group), with a power of 0.80 and an effect size of 30%. Randomization was performed using NCSS statistical software (NCSS, Kaysville, Utah) from a single center. The relapse rates of the groups were compared using chi-square testing. Logistic regression analysis was performed to define the independent factors having an effect on relapse rates. Results: Desmopressin treatment was initiated in 421 patients, and 259 patients were eligible for randomization. Relapse rates were 39 (1%) and 42 (4%) for the structured withdrawal groups, which were significantly less than for direct withdrawal (55, 3%) and placebo (53, 1%). Logistic regression analysis revealed that initial effective dose of 240 mu cg, greater number of wet nights before treatment and nonstructured withdrawal were associated with higher relapse rates. Conclusions: We found that structured withdrawal with the fast melting oral formulation of desmopressin results in decreased relapse rates. Application of a structured withdrawal program was also an independent factor associated with reduced relapse rates, together with lower initial effective dose and number of wet nights per week. Relapse after cessation of desmopressin is an important problem, and in this study structured withdrawal was observed to be associated with decreased relapse rates compared to placebo and direct withdrawal.
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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