JOSE DE BESSA JUNIOR
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- Longitudinal Improvement of Lower Urinary Tract Symptoms in Williams-Beuren Syndrome(2021) SAMMOUR, Zein M.; HISANO, Marcelo; JR, Jose de Bessa; BRUSCHINI, Homero; NAHAS, William C.; SROUGI, Miguel; GOMES, Cristiano M.Purpose: Williams-Beuren syndrome is a chromosomal disorder caused by a deletion at region 7q11.23. Lower urinary tract symptoms are highly prevalent and significantly affect quality of life. We assessed the long-term out-comes of lower urinary tract symptoms in children with Williams-Beuren syndrome. Materials and Methods: From February 2001 to July 2016, 90 patients with Williams-Beuren syndrome were evaluated in our hospital, of whom 31 (20 boys) had at least 5 years of followup. Baseline evaluation included a history of lower urinary tract symptoms, frequency-volume chart and the impact on quality of life measured on a scale of 0 (delighted) to 6 (terrible). Pharmacological therapy with oxybutynin or doxazosin was offered to symptomatic patients. We present the outcome of lower urinary tract symptoms after 5 and 10 years of followup. Results: At baseline 27 (87.1%) patients were symptomatic. Median duration of followup was 10 (range 6-13) years. Pharmacological therapy was started for 25 (92.6%) symptomatic patients at baseline, including oxybutynin for 19 (76.0%), doxazosin for 1 (4.0%) and a combination of the 2 agents for 5 (20.0%). Medical therapy was still in use by 61.2% after 5 years and 52.9% after 10 years (p=0.043). Median duration of pharmacological treatment was 7 (range 6-11) years. A significant improvement of lower urinary tract symptoms was observed over time, with 35.5% and 29.5% patients considered symptomatic after 5 years and 10 years, respectively (p < 0.001). Quality of life was also markedly improved over time (p < 0.001). Conclusions: This long-term study showed significant improvement of lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome over time. Long-term pharmacological treatment was needed in most patients.
bookPart Exame das vias urinárias e sistema reprodutor masculino(2021) HENRIQUES, João Victor Teixeira; MOROMIZATO, Juliana Kanate Mazzoni; JúNIOR, José de Bessa; GOMES, Cristiana Mendes