FRANCISCO TIBOR DENES
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/55 - Laboratório de Urologia, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/55 - Laboratório de Urologia, Hospital das Clínicas, Faculdade de Medicina - Líder
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- Response to commentary to ""27 years of experience with the comprehensive surgical management of prune belly syndrome""(2015) DENES, Francisco Tibor; LOPES, Roberto Iglesias
- 46,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency(2017) MENDONCA, Berenice B.; GOMES, Nathalia Lisboa; COSTA, Elaine M. F.; INACIO, Marlene; MARTIN, Regina M.; NISHI, Mirian Y.; CARVALHO, Filomena Marino; TIBOR, Francisco Denes; DOMENICE, Sorahia17 beta-hydroxysteroid dehydrogenase 3 deficiency consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. External genitalia range from female-like to atypical genitalia and most affected males are raised as females. Virilization in subjects with 17 beta-HSD3 deficiency occurs at the time of puberty and several of them change to male social sex. In male social sex patients, testes can be safely maintained, as long as they are positioned inside the scrotum The phenotype of 46,XY DSD due to 17 beta-HSD3 deficiency is extremely variable and clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5 alpha-reductase 2 deficiency. Laboratory diagnosis is based on a low testosterone/androstenedione ratio due to high serum levels of androstenedione and low levels of testosterone. The disorder is caused by a homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17 beta-HSD3 isoenzyme leading to an impairment of the conversion of 17-keto into 17-hydroxysteroids. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review-the previously reported cases of 17 beta-HSD3 deficiency adding our own cases. (C) 2016 Published by Elsevier Ltd.
- Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas(2021) PETENUCI, Janaina; GUIMARAES, Augusto G.; FAGUNDES, Gustavo F. C.; BENEDETTI, Anna Flavia F.; AFONSO, Ana Caroline F.; PEREIRA, Maria Adelaide A.; ZERBINI, Maria Claudia N.; SIQUEIRA, Sheila; YAMAUCHI, Fernando; SOARES, Silvia C.; SROUGI, Victor; TANNO, Fabio Y.; CHAMBO, Jose L.; I, Roberto Lopes; DENES, Francisco T.; HOFF, Ana O.; LATRONICO, Ana Claudia; MENDONCA, Berenice B.; V, Maria Candida B. Fragoso; ALMEIDA, Madson Q.Objective Few and conflicting reports have characterized the genetics of paediatric pheochromocytomas and paragangliomas (PPGLs). This study aimed to investigate the clinical and genetic features of Brazilian children with PPGL. Patients and Methods This study included 25 children (52% girls) with PPGL. The median age at diagnosis was 15 years (4-19). The median time of follow-up was 145 months. The genetic investigation was performed by Sanger DNA sequencing, multiplex ligation-dependent probe amplification and/or target next-generation sequencing panel. Results Of the 25 children with PPGL, 11 (44%), 4 (16%), 2 (8%), 1 (4%) and 7 (28%) had germline VHL pathogenic variants, SDHB, SDHD, RET and negative genetic investigation, respectively. Children with germline VHL missense pathogenic variants were younger than those with SDHB or SDHD genetic defects [median (range), 12 (4-16) vs. 15.5 (14-19) years; P = .027]. Moreover, 10 of 11 cases with VHL pathogenic variants had bilateral pheochromocytoma (six asynchronous and four synchronous). All children with germline SDHB pathogenic variants presented with abdominal paraganglioma (one of them malignant). The two cases with SDHD pathogenic variants presented with head and neck paraganglioma. Among the cases without a genetic diagnosis, 6 and 2 had pheochromocytoma and paraganglioma, respectively. Furthermore, metastatic PPGL was diagnosed in four (16%) of 25 PPGL. Conclusions Most of the paediatric PPGL were hereditary and multifocal. The majority of the affected genes belong to pseudohypoxic cluster 1, with VHL being the most frequently mutated. Therefore, our findings impact surgical management and surveillance of children with PPGL.
- Testicular Torsion-Can We Improve the Management of Acute Scrotum?(2016) BARBOSA, Joao Arthur Brunhara Alves; DENES, Francisco Tibor; NGUYEN, Hiep T.
conferenceObject Impact of surgery and chemotherapy over renal function in bilateral Wilms tumor patients(2012) DUARTE, R. J.; CRISTOFANI, L. M.; GIRON, A. M.; DENES, F. T.; ODONE-FILHO, V; TANNURI, U.; SROUGI, M.INTRODUCTION & OBJECTIVES: Bilateral Wilms’ tumor represents 3% of all cases. The challenge of this situation is curing these patients preserving their renal function and quality of life (dialysis free status). Our purpose was to evaluate the success of renal function preservation in children treated for bilateral Wilms’ tumor. MATERIAL & METHODS: From January/1982 through June/2009, 13 children with bilateral Wilms’ tumor (4F: 9M, median age 16 months) were diagnosed. All patients received preoperative chemotherapy with VCR/ACTD (13 patients), VCR/ACTD/ADRIA (10 patients), VCR/ACTD/ADRIA/CBDCA/ETO (3 patients), VCR/ACTD/ADRIA/CBDCA/ETO/IFO (2 patients), for 8 through 40 weeks (median 16 weeks). All patients were submitted to surgical procedure nephron sparing objective. RESULTS: Radical unilatera l nephrectomy was performed in 9 patients (combined with contralateral nodulectomy in 8), bilateral nodulectomy in 3, and unilateral nodulectomy in 1. Two patients presented unilateral disappearing of the disease after preoperative chemotherapy on image and surgical evaluation. The histhopatological analysis revealed the classic triphasic Wilms’ tumor in 9 patients, rhabdomyoblastic differentiation in 3 and blastematous rests in one patient. Four patients relapsed: 2 in the remaining kidney, 1 in the tumoral bed and 1 in lungs (9mo, 1mo, 5mo and 6 mo after surgery). A ll, except the lung relapsed patient, were rescued, achieving a second remission, but one presented a second diffuse abdominal relapse and died. 11/13 patients have normal renal function and are alive and free of disease for 23+ months to 28+years. 1/13 patients presents microalbuminuria and mild systemic hypertension, requiring medication support. CONCLUSIONS: Bilateral Wilms’ tumor was successfully treated and renal function was preserved in 84.6% of surviving patients, even those cases that received nephrotoxic drugs.- The role of renal biomarkers to predict the need of surgery in congenital urinary tract obstruction in infants(2019) KOSTIC, D.; BEOZZO, G. P. N. S.; COUTO, S. B. do; KATO, A. H. T.; LIMA, L.; PALMEIRA, P.; KREBS, V. L. J.; BUNDUKI, V; V, R. P. Francisco; ZUGAIB, M.; DENES, F. T.; CARVALHO, W. B. de; KOCH, V. H. K.Introduction The diagnosis of renal function impairment and deterioration in congenital urinary tract obstruction (UTO) continues to be extremely challenging. The use of new renal biomarkers in this setting may favor early renal injury detection, allowing for a reliable choice of optimal therapeutic options and the prevention or minimization of definitive renal damage. Objective The aim of the study was to investigate a selection of promising biomarkers of renal injury with the intention of evaluating and comparing their profile with clinically based decisions for surgical intervention of infants with congenital obstructive uropathies. Study design The first-year profile of renal biomarkers, serum creatinine (sCr), serum and urine cystatin C (CyC), neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), transforming growth factor beta-1 (TGF-beta 1), retinolbinding protein (RBP), and microalbuminuria (mu ALB), was analyzed in a cohort of 37 infants with congenital UTO, divided into three subgroups, 14 cases with grade III unilateral hydro (uretero)nephrosis, 13 cases with grade III bilateral hydro (uretero)nephrosis, and 10 cases with low urinary tract obstruction (LUTO), compared with 24 healthy infants matched by gestational age and birth weight. Serum and urine samples were stored at -70 degrees C and thereafter analyzed by quantitative enzymatic immunoassay. Results Compared with the control group (Figure), all renal biomarker values were significantly increased in patients (P <= 0.02). In the unilateral hydronephrosis and LUTO group, RBP (P <= 0.043), NGAL (P <= 0.043), KIM-1 (P <= 0.03), and TGF-beta 1 (P <= 0.034) values dropped significantly after surgery. Neutrophil gelatinase-associated lipocalin alone and in combination with urine and serum CyC demonstrated the best performance in determining the need for surgery (area under the curve, 0.801 and 0.881, respectively). Biomarker profile analysis was suggestive of surgical intervention in 55.4% (7/13) of non-operated cases, and most of the biomarker values were above the cutoff levels within at least 3 months before the clinically based surgical decision in 58% (14/24) of all operated patients. Discussion To the best of the authors' knowledge, this is the first study to present the clinical use of selected group of serum and urinary biomarkers in the setting of UTO to distinguish between patients who would benefit from surgery intervention. The most promising results were obtained using NGAL, RBP, TGF-beta 1, and KIM-1, especially in the unilateral hydro(uretero)nephrosis and LUTO subgroups when compared with the control group. Conclusions Urine biomarkers, alone and in combination, demonstrated high potential as a non-invasive diagnostic tool for identifying infants who may benefit from earlier surgical intervention. [GRAPHICS] .
- Pyeloplasty vs. nephrectomy for ureteropelvic junction obstruction in poorly functioning kidneys (differential renal function < 20%): a multicentric study(2019) GNECH, M.; BERRETTINI, A.; I, R. Lopes; MOSCARDI, P.; ESPOSITO, C.; ZUCCHETTA, P.; DENES, F. T.; MANZONI, G.; BRAGA, L. H.; CASTAGNETTI, M.Introduction Management of poorly functioning kidneys with ureteropelvic junction obstruction (UPJO) is controversial, with some recommending direct nephrectomy and others direct pyeloplasty, and others temporary diversion. This study aimed to determine whether pyeloplasty is associated with higher complication rate than nephrectomy under these circumstances and whether it allows for functional recovery. Methods A retrospective review of 77 patients undergoing surgery for UPJO associated with a differential renal function (DRF) < 20% at 4 centres between January 2000 and December 2015 was conducted. Short- and long-term complications between pyeloplasties (n = 47) and nephrectomies (n = 16) and the changes in the DRF after pyeloplasty were compared. Results Patients undergoing nephrectomy had significantly lower median pre-operative DRF (p < 0.001) and were significantly more likely to undergo a minimally invasive approach (p = 0.002) than those undergoing pyeloplasty. No postoperative variable was statistically different between groups. After a mean follow-up of 63 (10-248) months, no statistically significant difference was found in intra-operative, early, late, and overall complications between pyeloplasty and nephrectomy. Pyeloplasty failed in 3% (2/62) of cases. Of the patients undergoing successful pyeloplasty, 36 had a pre-operative and a postoperative renogram, and functional recovery >5% was observed in '13 (36%), whereas the DRF remained unchanged in 16 (45%). Only postnatal diagnosis was associated with a significantly higher chance of functional recovery (odds ratio [OR] = 4.13, p = 0.047). Discussion Nephrectomy was more commonly performed using a minimally invasive approach and required less-intense follow-up than pyeloplasty. Moreover, complications after pyeloplasty, although occasional, required additional surgery which was never required after nephrectomy. Moreover, it should be considered that conservative treatment might be a third option in some of these patients. Conclusions In the study patients, pyeloplasty was not associated with significantly higher morbidity than nephrectomy. Need for deferred nephrectomy seems exceptional in decompressed kidneys even though renal function remains poor. Of the pyeloplasty cases not requiring additional surgery, one-third showed an improvement in DRF and a postnatal diagnosis was the only predictive factor for renal functional recovery.
- Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life(2019) WISNIEWSKI, Amy B.; BATISTA, Rafael L.; COSTA, Elaine M. F.; FINLAYSON, Courtney; SIRCILI, Maria Helena Palma; DENES, Francisco Tibor; DOMENICE, Sorahia; MENDONCA, Berenice B.Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensusmeeting in 2006. The aims of this paper are to review what is known about morbidity and mortality, diagnostic tools and timing, sex of rearing, endocrine and surgical treatment, fertility and sexual function, and quality of life in people with 46,XY DSD. The role for interdisciplinary health care teams, importance of establishing a molecular diagnosis, and need for research collaborations using patient registries to better understand long-term outcomes of specific medical and surgical interventions are acknowledged and accepted. Topics that require further study include prevalence and incidence, understanding morbidity and mortality as these relate to specific etiologies underlying 46,XY DSD, appropriate and optimal options for genitoplasty, long-term quality of life, sexual function, involvement with intimate partners, and optimizing fertility potential.
- Urethral duplication type influences on the complications rate and number of surgical procedures(2017) LOPES, Roberto Iglesias; GIRON, Amilcar Martins; MELLO, Marcos Figueiredo; BARBOSA NETO, Cristovao Machado; SANTOS, Joana dos; MOSCARDI, Paulo Renato Marcelo; SROUGI, Victor; DENES, Francisco Tibor; SROUGI, MiguelIntroduction: Urethral duplication is rare. Characterized by the presence of two urethral channels. This anomaly presents a great variety of clinical findings that depend on the type of duplication that often is associated with other anomalies. Material and Methods: We report thirteen boys with urethral duplication managed in our institution between 1988-02015. Clinical findings, associated anomalies, treatment of urethral duplication and our results are described. Patients were classified according to Effmann classification. Results: Mean patient's age was 38.3 +/- 34.7 months (3-0136 months). Mean follow-up was 7.7 +/- 3.4 years (3y8m-014y2m). Type II A2 was the most common pattern (8/13 patients, 61.5%), followed by type IA (3/13 patients, 23%) and IIA1 (2/13 patients, 15.3%). The most frequent clinical manifestations were urinary tract infections (UTI) observed in 11/13 patients (84.6%) and anal urinary leakage, found in 7/13 patients (53.8%). Associated anomalies were found in 9/13 patients (69.2%). Required surgeries were 3.53 +/- 2.84 procedures per patient. Considering groups: Type IIA2 4.25 +/- 3.28, type IIA1 4 +/- 1.41 and type IA 1.33 +/- 0.57 needed procedures per patient. Complications rate were 0% for type IA, 50% for type IIA1 and 75% for type IIA2. Conclusions: Patients with incomplete duplication (type I A or I B) can totally be asymptomatic, with no need of surgical correction. Type IIA2 is the most complex form of duplication to correct and multiple procedures might be required because of the very hypoplastic orthotopic dorsal urethral tissue. Surgical treatment should be individualized and parents should be advised on complications and need of multiple surgeries according to urethral duplication type.
- Retrospective Analysis of Prognostic Factors in Pediatric Patients with Adrenocortical Tumor from Unique Tertiary Center with Long-Term Follow-Up(2022) BACHEGA, Fernanda S.; V, Caio Suartz; ALMEIDA, Madson Q.; BRONDANI, Vania B.; CHARCHAR, Helaine L. S.; LACOMBE, Amanda M. F.; MARTINS-FILHO, Sebastiao N.; SOARES, Ibere C.; ZERBINI, Maria Claudia N.; DENES, Francisco T.; MENDONCA, Berenice; I, Roberto Lopes; LATRONICO, Ana Claudia; V, Maria Candida B. FragosoPediatric adrenocortical tumors (PACTs) represent rare causes of malignancies. However, the south/southeast regions of Brazil are known to have a high incidence of PACTs because of the founder effect associated with a germline pathogenic variant of tumor suppressor gene TP53. We aimed to retrospectively analyze the types of variables among hormone production, radiological imaging, tumor staging, histological and genetic features that were associated with the occurrence of malignancy in 95 patients (71% females) with PACTs from a unique center. The worst prognosis was associated with those aged > 3 years (p < 0.05), high serum levels of 11-desoxicortisol (p < 0.001), tumor weight >= 200 g (p < 0.001), tumor size >= 5 cm (p < 0.05), Weiss score >= 5 (p < 0.05), Wieneke index >= 3 (p < 0.001) and Ki67 >= 15% (p < 0.05). Furthermore, patients with MacFarlane stage IV had an overall survival rate almost two times shorter than patients with other stages (p < 0.001). Additionally, the subtractions of BUB1B-PINK1 (<6.95) expression (p < 0.05) and IGF-IR overexpression (p = 0.0001) were associated with malignant behavior. These results helped identify patients who are likely to have an aggressive course; further multicenter prospective studies are required to confirm our results. In conclusion, PACTs with these patterns of prognostic factors could be treated using an adjuvant approach that may improve the overall survival in such patients.