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
13 resultados
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- 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.
- TRANSSEXUAL GENITAL SURGERY: COMPLICATIONS AND FUNCTIONAL RESULTS AFTER 13 YEARS OF EXPERIENCE(2013) SIRCILI, Maria Helena; DENES, Francisco Tibor; TAVARES, Alessandro; COSTA, Elaine Maria Frade; DOMENICE, Sorahia; CUNHA, Flavia Siqueira; SROUGI, Miguel; MENDONCA, Berenice
- Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development(2022) ELIAS, Felipe Martins; NISHI, Mirian Yumi; SIRCILI, Maria Helena Palma; BASTISTA, Rafael Loch; GOMES, Nathalia Lisboa; FERRARI, Maria Tereza Martins; COSTA, Elaine Maria Frade; DENES, Francisco Tibor; MENDONCA, Berenice Bilharinho; DOMENICE, SorahiaBackground: Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia. The expression of different miRNAs in many organs of the male genital system has been reported, and these miRNAs have been associated with testicular function and its disorders, but no description has been related to DSD conditions. This study aimed to evaluate the plasma expression of miR-210 in 46,XY DSD patients who presented atypical genitalia at birth. Methods: Eighteen 46,XY DSD patients who presented atypical genitalia (undescended testis and/or hypospadias, bifid scrotum or micropenis) at birth and 36 male control individuals were selected. Plasma levels of miR-210 and reference miR-23a were measured using RT-qPCR and the data were analysed by the 2(-Delta Ct) method. Results: MiR-210 plasma levels were significantly higher in 46,XY DSD patients with atypical genitalia than in male control subjects (p = 0.0024). A positive association between miR-210 levels and the presence of cryptorchidism and hypospadias (p = 0.0146 and p = 0.0223) was found in these patients. Significantly higher levels of miR-210 were observed in patients with 46,XY DSD and cryptorchidism than in control subjects (p = 0.0118). These results are in agreement with previous literature reports, in which increased levels of miR-210 expression were observed in human testicular tissue from adult males with undescended testes in comparison with samples of descended testes. Conclusion: Our study showed a positive association between the presence of atypical genitalia and plasma levels of miR-210 expression in the group of patients with 46,XY DSD of unknown aetiology studied. These findings contribute to reveal a new perspective on the role of miRNAs in the development of male external genitalia and the broad spectrum of phenotypes presented by patients with 46,XY DSD.
- High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53(2020) BRONDANI, Vania Balderrama; MONTENEGRO, Luciana; LACOMBE, Amanda Meneses Ferreira; MAGALHAES, Breno Marchiori; NISHI, Mirian Yumie; FUNARI, Mariana Ferreira de Assis; NARCIZO, Amanda de Moraes; CARDOSO, Lais Cavalca; SIQUEIRA, Sheila Aparecida Coelho; ZERBINI, Maria Claudia Nogueira; DENES, Francisco Tibor; LATRONICO, Ana Claudia; MENDONCA, Berenice Bilharinho; ALMEIDA, Madson Queiroz; LERARIO, Antonio Marcondes; SOARES, Ibere Cauduro; FRAGOSO, Maria Candida Barisson VillaresAdrenocortical cancer is a rare malignant neoplasm associated with a dismal prognosis. Identification of the molecular pathways involved in adrenal tumorigenesis is essential for a better understanding of the disease mechanism and improvement of its treatment. The aim of this study is to define the prevalence of alterations in DNA mismatch repair (MMR) genes in Lynch syndrome among pediatric patients with adrenocortical neoplasia from southern Brazil, where the prevalence of a specific TP53 germline mutation (p.Arg337His) is quite high. Thirty-six pediatric patients were retrospectively evaluated. Immunohistochemistry (IHC) for theMMR enzymes MLH1, MSH2, MSH6, and PMS2, as well as next-generation sequencing (NGS) were performed. For IHC, 36 pediatric tumors were tested. In all of them, the expression of all evaluated MMR proteins was well-preserved. For NGS, 35 patients with pediatric tumor were tested. Three patients (8.57%) with the TP53 p.Arg337His germline mutation presented pathogenic and likely pathogenic variants in the MMR genes (two in MLH1 and one in MSH6). The prevalence of alteredMMR genes among pediatric patients was elevated (8.57%) and higher than in colorectal and endometrial cancer cohorts. Pediatric patients with adrenocortical tumors should, thus, be strongly considered as at genetic risk for Lynch syndrome.
- Surgical Treatment after Failed Primary Correction of Urogenital Sinus in Female Patients with Virilizing Congenital Adrenal Hyperplasia: Are Good Results Possible?(2016) SIRCILI, Maria Helena Palma; BACHEGA, Tania Sartori Sanchez; MADUREIRA, Guiomar; GOMES, Larissa; MENDONCA, Berenice Bilharinho; DENES, Francisco TiborPurpose: Genital reconstruction in female patients with virilizing congenital adrenal hyperplasia (CAH) is very challenging. Our aim was to evaluate the techniques employed to treat complications after failure of primary urogenital sinus (UGS) surgery, as well as the result of these reoperations. Patients and methods: Twenty girls with virilizing CAH who were previously submitted to genitoplasty in our service and elsewhere had recurrent UGS stenosis and vaginal introitus stenosis that required surgical treatment. The main symptoms were recurrent urinary tract infection (UTI) in nine, dyspareunia in six, and hematocolpos in three (two associated with sepsis). The anatomical findings were the persistence of UGS with stenosis in 17 patients and vaginal introitus stenosis in 3. The mean age at procedure was 15.2 years, averaging 13.1 years after the first surgery. The surgical techniques employed were isolated perineal flap in 17 patients and perineal flap with partial mobilization of UGS in 3. The mean follow-up after the procedure was 4.8 years (varying from 1 to 17 years). Results: Vaginal dilations were performed after surgery in 15 patients. Good functional and anatomical results were obtained in 15 patients, with vaginal introitus amenable to dilators of 3.0 cm in diameter. Five patients with high vaginal insertion had recurrent vaginal stenosis and required a surgical revision. No patients presented menstrual obstruction or UTI after surgery. Eight of the 15 adult patients are sexually active. Conclusion: The reoperation to treat failed primary UGS treatment using Y-V flap and partial mobilization techniques associated with vaginal dilations, promoted good anatomical, and functional results with low morbidity in 75% of the patients.
- Pediatric genitourinary oncology(2013) DENES, Francisco Tibor; DUARTE, Ricardo Jordao; CRISTOFANI, Lilian Maria; LOPES, Roberto IglesiasTumors of the kidney, bladder, prostate, testis, and adrenal represent a large part of the adult urologic practice, but are relatively infrequent in children. The natural history and management of these tumors in the pediatric age is different from that of the adults. As result of the successful work of several clinical trial groups in recent decades, there has been a significant improvement in their cure rates. The aim of this article is to review their most significant clinical aspects, as well as to present an update in their management.
- Quality of life in young adult patients treated for bladder exstrophy(2016) CRUZ, Jose Arnaldo Shiomi da; MATTOS, Bruno de; SROUGI, Miguel; NGUYEN, Hiep; BONAN, Rafael; DENES, Francisco; GIRON, Amilcar; PASSEROTTI, CarloIntroduction Bladder exstrophy (BE) is a rare condition that requires complex surgical corrections to achieve the goals of bladder functionality, normal sexual function, continence, and finally cosmesis. The purpose of this study was to identify clinical parameters that predict better quality of life (QOL) scores using a validated questionnaire (SF-36) with young adults after completing surgical reconstruction. Material and methods Forty-three young adults (mean age 22.35 years, 29 men and 14 women) treated for BE were evaluated using the Short Form 36 general health questionnaire (SF-36). Clinical assessment involved evaluation of the actual condition regarding continence, sexual function, genital satisfaction and overall cosmesis. Results Both genders presented similar QOL scores (p = 0.36). The QOL was not age-related (p = 0.63). Neither genders did not present any differences in the number of procedures (p = 0.27). Although no significant gender difference was found, clinical impairments -such as urinary fistula, incontinence, penile length and infertility - were associated with worse QOL scores and were male-related (p<0.01). The most common complaint after complete surgical repair was about penile length (26/29 patients, 89.6%). Conclusions Age and gender were not predictors of better QOL scores. Any clinical impairment, such as urinary leakage due to incontinence or fistula, penile length and infertility, tended to significantly decrease the overall QOL in male patients with BE. The male genitalia seems to be the most troublesome aspect post-adolescence in treated male patients with exstrophy-epispadias. It has an important impact on the overall QOL, mainly having a social affect on those patients.
- Scrotal flap phalloplasty as temporary neophallus in infants and children with penile agenesis: Multi-institutional experience and long-term follow-up(2023) CEZARINO, Bruno Nicolino; ARCEO, Ricardo; LESLIE, Jeffrey A.; KOYLE, Martin; DENES, Francisco Tibor; PRIETO, Juan CarlosIntroductionAphallia is a rare congenital disorder pertaining to genotypic males. Early surgical creation of a neophallus is recommended to reinforce the child's male gender-identity, favoring proper psychosexual development. Modern microsurgical techniques used to create a neophallus in adults are not recommended in children due to the invasiveness and complexity of the procedures, along with high complication rates. Scrotal flap phalloplasty is a simple and reproducible technique to create a temporary neophallus in prepubertal boys with aphallia.ObjectiveWe present a multi-institutional experience, ten years after the initial description of the scrotal flap phalloplasty (SFP) technique, in which a flap from the well-developed scrotum is used to build a temporary neophallus, without obvious scars in patients with aphallia.Study designThe records of surgical neophalloplasty for aphallia patients from 4 centers between 2011 and 2021 were reviewed. All patients had at least one year follow-up to assess for short and long-term complications. Age at initial operation, associated anomalies, and other related surgical procedures were analyzed.ResultsThe post-operative aesthetic result in all patients was satisfactory and has been maintained in the long-term follow-up, with all patients presenting a cylindrical structure resembling an uncircumcised penis, without evidence of significant contraction or loss of length. (Summary Figure)Discussion Non-microsurgical neophalloplasty techniques in patients with penile agenesis are temporary procedures that help to establish the body image and preserve the psychosexual development of the patient with aphallia. These techniques do not involve tissue transplant from a distant region, and are simpler to perform, with less scarring at the donor sites. Due to significant donor scars and considerable morbidity and complexity associated with the definitive phalloplasty techniques, we created a simple, reproducible and straightforward procedure to serve as a temporary neophallus in young boys with aphallia. As affected patients usually have a well-formed scrotum with normal and orthotopic testicles, it is the ideal donor site for a temporary neo-phallus in childhood. Furthermore, other donor sites are preserved for a definitive phalloplasty. There are limitations to this study, as quality of life could not be assessed and psychological or gender -identity investigations have not been carried out. None of these children have reached puberty, and hence decision and outcomes of definitive neo-phallus reconstruction has not been considered to date.Conclusion Scrotal flap phalloplasty is a minimally invasive, simple and reproducible technique used to create a temporary neophallus in boys with aphallia, while waiting for definitive reconstructive surgery after puberty.
conferenceObject Retrospective Analysis of Individuals with Differences in Sex Development (DSD) in a Brazilian Single-Center Study Across the Lifespan(2023) BATISTA, Rafael; GOMES, Nathalia; BACHEGA, Tania; MADUREIRA, Guiomar; MIRANDA, Mirela; DALLAGO, Renata; TERESA, Maria; LOUSADA, Ferrari Lia; CRAVEIRO, Flora; BATATINHA, Julio; SCALCO, Renata; JORGE, Alexander; COSTA, Elaine; SIRCILI, Maria Helena; DENES, Francisco; INACIO, Marlene; NISHI, Mirian; DOMENICE, Sorahia; MENDONCA, Berenice- GONADAL TUMOR DETECTION AND TREATMENT IN PATIENTS WITH DISORDER OF SEX DEVELOPMENT (DSD): LONG-TERM ONCOLOGICAL OUTCOMES(2012) OLIVEIRA, Lorena; MACHADO, Marcos; MARCHINI, Giovanni; TAVARES, Alessandro; SIRCILI, Maria Helena; DOMENICE, Sorahia; COSTA, Elaine; DENES, Francisco; MENDONCA, Berenice; SROUGI, Miguel