MARCELLO SANTOS PINHEIRO
Projetos de Pesquisa
Unidades Organizacionais
P IMREA, Hospital das Clínicas, Faculdade de Medicina - Médico
6 resultados
Resultados de Busca
Agora exibindo 1 - 6 de 6
- Congenital genitourinary abnormalities in children with Williams-Beuren syndrome(2014) SAMMOUR, Zein M.; GOMES, Cristiano M.; BESSA JR., Jose de; PINHEIRO, Marcello S.; KIM, Chong A. E.; HISANO, Marcelo; BRUSCHINI, Homero; SROUGI, MiguelObjective: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. Patients with WBS usually show a group of features such as developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. Abdominal wall defects, external genitalia anomalies, and structural abnormalities of the urinary tract have been scarcely evaluated and were the focus of our study. Materials and methods: We prospectively evaluated 41 boys and 38 girls with WBS, with a mean age of 8.8 +/- 4.1 (range 3-19 years). All patients were examined for the evaluation of inguinal and umbilical hernias and genital anomalies. All patients were offered a radiological evaluation, including urinary tract ultrasound, voiding cystourethrogram, and dimercaptosuccinic acid renal scintigraphy (DMSA scan). Results: Of the 41 boys, 30 (73.1%) had abnormalities on physical examination, including bilateral undescended testis in 13 (31.7%), retractile testis in four (9.7%), hypospadias in four (9.7%), and unilateral cryptorchidism in three (7.3%) patients. Of the 38 female subjects, 17 (44.7%) had at least one abnormality, including umbilical hernia in 11 (28.9%), unilateral inguinal hernia in four (10.5%), and bilateral inguinal hernia in three (7.8%) patients. Uroradiological abnormalities were found in 41 patients (51.9%). On sonography, six (7.6%) patients had unilateral hydronephrosis, three (3.8%) had a duplicated collecting system, and two (2.5%) had kidney stones. On DMSA, performed in 36 patients, four (11.1%) had unilateral renal scarring and two (5.5%) had bilateral renal scarring. Cystourethrography was obtained from 56 patients, of whom 27 (48.2%) had bladder diverticulum, 18 (32.1%) had bladder wall trabeculation, and three (5.3%) had vesicoureteral reflux. We found no association of urological abnormalities with cardiovascular defects. Conclusions: Patients with WBS have a high prevalence of abdominal wall, external genitalia, and urological abnormalities, emphasizing the importance of proper physical examination and radiological investigation in this population.
- CONGENITAL GENITOURINARY ABNORMALITIES IN CHILDREN WITH WILLIAMS-BEUREN SYNDROME(2012) SAMMOUR, Zein; GOMES, Cristiano; BESSA JR., Jose; PINHEIRO, Marcello; KIM, Chong; SACOMANI, Carlos; BRUSCHINI, Homero; SROUGI, Miguel
conferenceObject FEMALE SEXUAL DYSFUNCTION AFTER SPINAL CORD INJURY: AN IMPORTANT FACTOR ASSOCIATED TO LIFE DISSATISFACTION(2013) GOMES, C.; JR, J. Castro; BELLUCCI, C.; JR, J. Bessa; PINHEIRO, M.; BARROS FILHO, T.; BATTISTELLA, L.; BRUSCHINI, H.; SROUGI, M.- Voiding Dysfunction in Patients With Neuromyelitis Optica Spectrum Disorders(2016) CARVALHO, Fabricio Leite de; GOMES, Cristiano Mendes; APOSTOLOS-PEREIRA, Samira L.; BESSA JR., Jose; PINHEIRO, Marcello; MARCHIORI, Paulo E.; BRUSCHINI, Homero; SROUGI, Miguel; CALLEGARO, DagobertoAims: We assessed the lower urinary tract symptoms (LUTS) and urodynamic findings in patients with neuromyelitis optica spectrum disorders (NMO-SD), a recently defined neurological disease. Methods: We prospectively evaluated seven men and 23 women (mean age 41.1 +/- 13.5 years) with an established diagnosis of NMO-SD who were invited to participate irrespective of the presence of LUTS. Neurological evaluation was assessed with the Expanded Disability Status Scale (EDSS) and LUTS were evaluated with the Overactive Bladder questionnaire (OAB-V8) and the International Prostate Symptom Score (I-PSS). All patients underwent videourodynamics, transabdominal urinary tract sonography, urine culture, and serum creatinine levels. Results: The mean time of disease duration was 33.8 +/- 30.8 months. Neurological evaluation showed a mean EDSS score of 5.3 +/- 1.8. The most frequent videourodynamic findings were detrusor-sphincter dyssynergia (DSD) and detrusor overactivity (DO) in 11 (36.6%) patients, DSD without DO in seven (23.3%) and DO without DSD in six (20.0%) patients. Voiding dysfunction assessed by I-PSS and OAB-V8 increased with the degree of neurological impairment (P = 0.018; r = 0.42 and P = 0.006; r = 0.48 respectively). Patients with DSD had higher I-PSS (18.5 +/- 11.4 vs 7.0 +/- 9.2; P = 0.029) and OAB-V8 scores (22.8 +/- 15.8vs 9.1 +/- 7.8; P = 0.008), and worse neurological impairment (mean EDSS 5.9 +/- 1.8 vs 4.5 +/- 1.5; P = 0.027). Conclusions: Most patients with NMO-SD have LUTS and voiding dysfunction, with DSD and DO as the main urodynamic findings. The severity of the neurological disease is a predictive factor for the occurrence of voiding dysfunction and detrusor-sphincter dyssynergia. (C) 2014 Wiley Periodicals, Inc.
- FEMALE SEXUAL DYSFUNCTION AFTER SPINAL CORD INJURY(2013) GOMES, Cristiano M.; BELLUCCI, Carlos H. S.; BESSA JR., Jose; CASTRO FILHO, Jose E.; PINHEIRO, Marcello S.; BRUSCHINI, Homero; SROUGI, Miguel
- The Effects of Oxybutynin on Urinary Symptoms in Children with Williams-Beuren Syndrome(2012) SAMMOUR, Zein M.; GOMES, Cristiano M.; BESSA JR., Jose de; PINHEIRO, Marcello S.; KIM, Chong A.; HONJO, Rachel S.; TRIGO-ROCHA, Flavio E.; BRUSCHINI, Homero; SROUGI, MiguelPurpose: Williams-Beuren syndrome is a genomic disorder caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Lower urinary tract symptoms are common in children with Williams-Beuren syndrome. However, there are few data on the management of voiding symptoms in this population. We report our experience using oxybutynin to treat urinary symptoms in children with Williams-Beuren syndrome. Materials and Methods: We prospectively analyzed 42 patients with Williams-Beuren syndrome and significant lower urinary tract symptoms due to detrusor overactivity diagnosed on urodynamics in a 12-week, open-label study. Urological assessment included symptomatic evaluation, the impact of lower urinary tract symptoms on quality of life, frequency-volume chart, urodynamics and urinary tract sonography. After 12 weeks of treatment with 0.6 mg/kg oxybutynin per day given in 3 daily doses, patients were assessed for treatment efficacy and side effects. Results: A total of 17 girls and 19 boys completed medical therapy and were assessed at 12 weeks. Mean +/- SD patient age was 9.2 +/- 4.3 years (range 3 to 18). The most common urinary complaint was urgency, which occurred in 31 patients (86.1%), followed by urge incontinence, which was seen in 29 (80.5%). Compared to baseline, urinary symptoms were substantially improved. The negative impact of storage symptoms on quality of life was significantly decreased from a mean +/- SD of 3.3 +/- 1.7 to 0.5 +/- 0.9 (p <0.001). Mean +/- SD maximum urinary flow improved from 14.2 +/- 15.0 to 20.5 +/- 6.4 ml per second (p <0.001). Conclusions: A total of 12 weeks of therapy with 0.6 mg/kg oxybutynin daily resulted in improvement of lower urinary tract symptoms, quality of life and maximum flow rate in most patients with Williams-Beuren syndrome.