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Objectives: Angiogenic defects secondary to gene mutations of JAG1 and NOTCH2, causing arterial anomalies in Alagille syndrome (AGS), are well described in the literature. The study analyzes the frequency of abdominal arterial anomalies in children with AGS with an emphasis on outcomes following liver transplantation (LT)., Methods: Between 1988 and 2013, 242 children with AGS were treated at our institution. We performed a retrospective analysis of 55 who underwent LT during the study period. Preoperative abdominal arterial findings, operative reports, arterial reconstruction technique, and early as well as late complications following LT were reviewed specifically focusing on arterial thrombosis., Results: Twenty-five patients had preoperative imaging available for analysis. Twelve of these patients showed celiac trunk stenosis (48.0%), 2, a superior mesenteric artery stenosis (8.0%) and one a stenosis of both renal arteries. Twenty patients (36.3%) underwent standard hepatic reconstruction using the native recipient hepatic artery. Thirty-five patients (63.7%) underwent aortic conduit reconstruction (ACR) from the infrarenal aorta using donor arterial conduits. Hepatic artery thrombosis occurred in 9 patients (16.3%). This number was higher in the standard arterial anastomosis group 7/20 (35.0%) than in those with ACR 2/35 (5.7%, P = 0.0079)., Conclusions: In this series, children with AGS pretransplant have a high prevalence of abdominal arterial anomalies. Preoperative abdominal vascular imaging makes it possible to anticipate whether or not a classical arterial revascularization can be performed or whether an ACR is required.

Purpose: To report the results of a conservative strategy based on partial surgery combined with brachytherapy in a prospective cohort of children with bladder-prostate rhabdomyosarcoma (BP RMS)., Methods and Materials: We prospectively documented the outcome of children treated in our department between 1991 and 2015 for BP RMS and undergoing a multimodal approach combining conservative surgery (partial cystectomy and/or partial prostatectomy) and perioperative interstitial low-dose-rate or pulse-dose-rate brachytherapy. Before brachytherapy, children had received chemotherapy with modalities depending on their risk group of treatment., Results: A total of 100 patients were identified, with a median age of 28 months (range, 5.6 months-14 years). According to the Intergroup Rhabdomyosarcoma Study (IRS) group, 84 were IRS-III, and 12 were IRS-IV tumors. Four patients were treated at relapse. The median number of chemotherapy cycles before local therapy was 6 (range, 4-13). After surgery, 63 patients had a macroscopic tumor residuum. Five patients underwent a brachytherapy boost before pelvic external beam radiation therapy because of nodal involvement, and 95 had exclusive brachytherapy. Median follow-up was 64 months (range, 6 months-24.5 years). Five-year disease-free and overall survival rates were 84% (95% confidence interval 80%-88%) and 91% (95% confidence interval 87%-95%), respectively. At last follow-up most survivors presented with only mild to moderate genitourinary sequelae and a normal diurnal urinary continence. Five patients required a secondary total cystectomy: 3 for a nonfunctional bladder and 2 for relapse., Conclusion: Brachytherapy is effective as part of a conservative strategy for BP RMS, with a relatively low delayed toxicity as compared with previously published studies using external beam radiation therapy. Longer follow-up is required to ensure that the functional results are maintained over time., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Sickle cell anemia (SCA) is the most prevalent genetic disease worldwide. Recurrent vaso-occlusive infarcts predispose SCA patients to infections, which are the primary causes of morbidly and mortality. This study aimed to evaluate the relationship between SCA and endodontic diseases. Personal information, medical data (hematological indices, virologic testing, blood transfusions, medications received, splenectomy) and information on the need for endodontic treatment were obtained from SCA patients who were registered and followed up by the Fundação Hemominas, Minas Gerais, Brazil.These data were compared with the need for root canal treatment in SCA patients. One hundred eight patients comprised the studied population, and the rate of the need for endodontic therapy was 10.2%. Among the medical data, a significant difference was observed for eosinophil (p = 0.045) counts and atypical lymphocyte counts (p = 0.036) when the groups (with and without the need for endodontic treatment) were compared. Statistical relevance was observed when comparing the patients with and without the need for root canal therapy concerned eosinophil counts and atypical lymphocyte counts. The differences in statistical medical data, observed between the groups suggest that both parameters are naturally connected to the stimulation of the immune system that can occur in the presence of root canal infections and that can be harmful to SCA individuals.

Purpose: The aim of this study was to report the long-term results of a conservative local treatment of male patients with bladder-prostate rhabdomyosarcoma (BPRMS) focusing on their outcome and quality of life (QoL)., Methods and Materials: From 1991 to 2007, 27 male patients were treated by a single team, according to the ongoing European protocols. Surgical procedure was partial cystectomy or partial prostatectomy or both, followed by low-dose-rate interstitial brachytherapy. Three patients died of metastases and two were excluded; 22 patients, who were long-term survivors with their bladder, received a QoL questionnaire derived from the International Workshop on BPRMS. Urodynamic studies were performed when patients had abnormal continence., Results: Median age at surgery was 24 months (14 months-11 years). Median followup after surgery was 10 years (5-21 years); 18 male patients (77%) completed the questionnaire at a median age of 13 years (7-25 years); 13 considered themselves as having a normal QoL, with normal urinary continence (9 of 13) or very rare diurnal dribbling (4 of 13). Four male patients had frequent diurnal dribbling requiring protection for three of them and one was submitted to intermittent catheterism for a postoperative neurogenic bladder. Urodynamic studies were performed in 11 patients with urinary disturbance, often revealing detrusor sphincter dyssynergia. All pubertal patients considered themselves as having normal erections. Three sexually active patients reported having satisfying sex and orgasms. Two patients had normal ejaculations., Conclusions: The majority of long-term male survivors (76%) within this cohort considered themselves as having a normal QoL after the combined conservative local treatment of their BPRMS., (Copyright © 2016 American Brachytherapy Society. Published by Elsevier Inc. All rights reserved.)

Background: Right hemicolectomy (RHC) in patients with neuroendocrine tumors (NET) of the appendix has been advocated for tumors more than 2 cm, or with mesoappendix/vessel invasion, or with raised mitotic activity. No study demonstrated prolonged survival with RHC over appendectomy alone. The aim of this study was to contribute to define guidelines for secondary surgery in children or adolescents with NET of the appendix., Procedure: We contacted all French pediatric surgeons and oncologists by mail, and reviewed the records of patients under 18 with NET of the appendix from 1988 until 2012., Results: A total of 114 patients were recorded with a female/male ratio of 1.6. Median age at presentation was 12 years (range: 5-17 years). Ten patients had a tumor more than 2 cm. Twenty patients had evidence of extension into the mesoappendix, including five with blood or lymph vessels' invasion. Solely, one patient had a tumor with a high proliferative index. Incomplete resection was observed in three cases. Eighty-five patients had no criterion for secondary surgery. Twenty-nine patients had criteria for RHC but only 10 underwent surgery. None of the resected specimens showed carcinoid tumor. Three patients had positive lymph nodes. At the last follow-up, all patients were alive and disease free., Conclusion: Appendectomy alone seems to be curative of these tumors with no influence on life expectancy. Follow-up is not only unnecessary, but its means, whether clinical, radiological or biological, are ineffective., (© 2015 Wiley Periodicals, Inc.)

Background: We present the results of the TGM-95 study for gonadal sex-cord stromal tumors (SCT)., Methods: Between 1995 and 2005, children (<18 years) with gonadal SCT were prospectively registered. Primary gonadal resection was recommended whenever feasible. Patients with disseminated disease or an incomplete resection received neoadjuvant or adjuvant VIP chemotherapy (etoposide, ifosfamide, cisplatinum)., Results: Thirty-eight children with ovarian SCT were registered. Median age was 10.7y. Endocrine symptoms were present in 21 cases. The histological diagnoses were as follows: juvenile (23) and adult (3) granulosa cell tumors, Sertoli-Leydig cell tumors (11), and mixed germ cell SCT (1). An initial oophorectomy ± salpingectomy led to complete resection in 23 patients who did not receive adjuvant treatment; two of them relapsed: one achieved second complete remission whereas the other one died of disease. Fifteen patients had tumor rupture and/or malignant ascites: 11 received chemotherapy and did not relapse, four did not receive chemotherapy and relapsed with a fatal outcome in two cases. With a median follow-up of 5.9y, the 5-y EFS and OS rates were respectively 85% and 94%. Eleven patients had localized testicular tumors (median age 0.83y): juvenile granulosa cell tumors (4), Sertoli or Leydig cell tumors (5) and not otherwise specified SCT (2). Treatment was surgery alone with an inguinal orchiectomy. None have relapsed (median follow-up: 5.4y)., Conclusions: Childhood SCT carry favorable prognosis. In ovarian SCT, surgery should be complete and non-mutilating. Adjuvant chemotherapy efficiently prevents recurrences in cases of tumor rupture. In childhood testicular SCT, the prognosis is excellent with an inguinal orchiectomy, prompting the debate on testis-sparing surgery., (© 2015 Wiley Periodicals, Inc.)

Purpose: To prospectively assess the long-term toxicities of brachytherapy in female survivors with localized genital tract tumors., Patients and Methods: The data concerning 42 patients treated at Gustave Roussy between 1971 and 2004, were both retrospectively and prospectively analyzed. Strictly confidential constructed surveys based on the LENT SOMA/SF-36v2 questionnaires were mailed and 51% were completed. Complications were recorded throughout the follow-up period and graded according to CTCAE, version 4.0., Results: The median age at diagnosis was 1.7 years (range, 0.6-16.6) and most patients (69%) had rhabdomyosarcomas. Treatments included brachytherapy delivered in all patients, chemotherapy (88%), surgery (31%), and external beam radiotherapy (5%). At a median follow-up of 15.5 years, 41/42 patients were alive. A total of 160 late effects were identified in 32/42 (76%) patients: 72% G1-2, and 28% G3-4 (the mean number of all grade late effects per patient: 4 [median: 2.5; range, 0-16] and the mean number of G3-4 late effects per patient: 1[median: 0; range, 0-8]). The most common all grade late toxicities were gynecological (75/160; 47%) and G3-4 were urinary (24/45; 53%). Sixteen patients (38%) required surgical treatment of late complications. The 15-year actuarial incidence rate of G3-4 late effects was 51%. The total number of all grade and G3-4 late effects was significantly increased in patients treated before 1990 (p=0.005 and p=0.008), when the cumulative dose was higher (p=0.03 and p=0.02), when the maximal dose was delivered to the ovaries (p=0.002 and p=0.04), and when the brachytherapy volume was larger (p=0.03 and p=0.02). Quality of life was good or very good in 91% of patients who completed the surveys., Conclusion: Long-term effects decreased with advances in treatment. Stringently controlled brachytherapy parameters should allow us to pursue improvements in order to prevent or minimize long-term sequelae., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)

Study Objective: The management of intersex patients with Y-chromosome Turner or Morris syndrome remains a challenge. We report our experience with a multicenter European survey., Design: We collected the data on 18 patients (mean age 10.2 years, range 2-17 years) with Morris (10 patients) or Turner (8 patients) syndrome harboring the Y chromosome who were treated in 1 of 6 European centers of pediatric surgery between 1997 and 2013. All patients were evaluated by use of a multidisciplinary diagnostic protocol. All patients received a bilateral gonadectomy via laparoscopy; only 1 center performed ovarian cryopreservation. Seven patients received a concomitant genitoplasty. Operative notes and histology were reviewed for details., Results: No conversions to laparotomy and no complications were recorded. For the patients receiving only the gonadectomy, the length of hospital stay was 24-48 hours, whereas for the patients receiving an associated genitoplasty, it was 6-10 days. Specimens were negative for tumors in 83.3% of cases, whereas in 3 patients (16.6%), benign abnormalities (Sertoli cell hyperplasia in 1 patient and ovotestis in 2 patients) were recorded. A malignant tumor was not recorded in our series., Conclusion: If the risk of malignancy is considered as the main indication for surgery in case of Turner or Morris syndrome, on the basis of our study, this indication should be reevaluated. However, based on the non-negligible rate of benign abnormalities reported in our series (16.6%), the performance of cryopreservation to preserve fertility and the possibility of performing genitoplasty during the same anesthetic procedure represent additional valid indications for surgery., (Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Background/purpose: Rhabdomyosarcoma (RMS) of the urachus is rare and gathered in the "abdominal and other locations" group for oncological treatment purpose, and therefore not well characterized. Our aim was to assess the clinical and prognostic specific features of urachal primary RMS in childhood., Methods: We retrospectively reviewed the charts of 8 patients with an urachal RMS treated between 1984 and 2013 in two Pediatric Oncology Departments. Median follow-up was 42 months (18-100)., Results: Urachal RMSs were embryonal in 6, alveolar in 1, and not otherwise specified in 1. Age at diagnosis was 4.4 years (2.6-6). All patients had advanced locoregional extension (IRS IIIIV) and 1 had distant metastasis. All had chemotherapy and surgical resection. Six had external radiotherapy. Four had extensive peritoneal recurrence including 2 with distant metastasis, within a median of 25 months (11-82) after the end of treatment. One had metastatic progression under primary treatment. Four of them died between 18 and 57 months after diagnosis, and 1 is still under treatment for a late recurrence. Only 3 are free of disease after 3.3 to 7.9 years of follow-up., Conclusions: Pediatric urachal cancer is rare and poorly identified. In our series, RMS was exclusive in this location. Locoregional extension was always advanced. Prognosis was poor despite current multimodal therapy. We underline the need for new therapeutical strategies., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Sex-cord stromal tumors (SCT) are rare pediatric tumors accounting for less than 5% of gonadal tumors in children and adolescents. They differ from those diagnosed in adults by their presentation, histology, evolution and treatment modalities. Testicular SCT occur mostly in infants less than 6 months. Testicular swelling is often the only symptom, but signs of hormonal secretion with gynecomastia may be present. Juvenile granulosa SCT is the main histologic subtype. Sertoli SCTs are much less frequent while Leydig tumors occurred in older children and adolescents. Prognosis is excellent after inguinal orchiectomy. Testis sparing surgery could be performed but indications and modalities have to be strongly defined. Ovarian SCT are diagnosed in older children and adolescents and present with abdominal symptoms and/or signs of hormonal secretion: estrogenic manifestations (isosexual pseudoprecocity, menometrorrhagia) or virilization (hirsutism, amenorrhea). Main histologic subtype is juvenile granulosa (rarely Sertoli-Leydig). If oophorectomy (or salpingo-oophorectomy) may be curative for localized disease, adjuvant cisplatin-containing chemotherapy is mandatory in case of tumor rupture or peritoneal dissemination to prevent recurrences. Because of the rarity of these pediatric tumors, concerted multidisciplinary cares are required to best adapt therapeutic strategy before any surgical intervention., (Copyright © 2015 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.)

Preserving fertility is a requisite for any child undergoing gonadotoxic treatment for cancer. Techniques vary depending on the age, sex of the patient and nature of the treatment. Boys undergoing irradiation have testicular protection or transposition. Post-pubertal boys undergoing chemotherapy can have semen cryopreservation like adults. However, fertility preservation for pre-pubertal boys undergoing chemotherapy implies testicular tissue cryopreservation. Research concentrates on germ cell transplantation, autotransplantation of testicular tissue or in vitro spermatogonial maturation in order to later restore spermatogenesis. Ovarian transposition can be undergone in case of brachytherapy or external beam radiotherapy in girls and has published success rates of 80%. Ovarian cryopreservation has been developed since 1995 for pre-pubertal and post-pubertal girls undergoing chemotherapy. The ovary is retrieved surgically and ovarian cortical segments are frozen. Thawing and transplantation of gonadal tissue are the next steps to restoring fertility. However, immature oocytes will have to be matured either in vivo or in vitro in order to restore fertility. Fertility preservation must be offered to children with cancer even if maturation of immature germ cells is uncertain for research 20 to 30 years from now will probably enable fertility restoration., (Copyright © 2015 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.)

Objective: Pictorial review with a detailed semiological analysis of ovarian tumors in children and adolescents to provide a relevant diagnostic approach., Patients and Methods: Retrospective study (2001-2011) of 41 patients under the age of 15 who underwent surgery for an ovarian mass with a definite pathological diagnosis., Results: Sixty-two percent of the lesions were benign, 33% were malignant and 5% were borderline. Germ cell tumors were most frequent (77.5%), followed by sex cord stromal tumors (12.5%) and epithelial tumors (7.5%). Malignant tumors were more frequent in children between 0 and 2 years old. On imaging, calcifications and fat were specific for germ cell tumors; the presence of a mural nodule was predictive of a mature teratoma (P<0.001). Predictive factors for malignancy were clinical, including abdominal distension (P<0.01) or a palpable mass (P=0.05), biological, including increased hCG and/or AFP levels (P<0.001) and radiological, including tumors larger than 12 cm (P<0.05), tumoral hypervascularity (P<0.01) and voluminous ascites (P<0.01)., Conclusion: This semiological analysis confirms the role of imaging in diagnosing the etiology of ovarian lesions in children and adolescents and emphasizes the importance identifying tumoral hypervascularity, which, in addition to classic criteria, is highly predictive of malignancy., (Copyright © 2014 Éditions françaises de radiologie. Published by Elsevier Masson SAS. All rights reserved.)

Aim: Undifferentiated sarcoma of the liver (USL) is the third commonest malignant liver tumor in children. The aim of our study is to evaluate the outcome of this rare entity according to the quality of the surgical resection and the compliance to the European pediatric soft tissue sarcoma group guidelines., Patients and Methods: We conducted a monocentric review of patients referred to our department with a definitive pathologic diagnosis of USL between 1997 and 2013. We looked at the diagnosis and management pitfalls, surgical technique, and outcomes. Results are expressed as median (range)., Results: There were 13 patients (M/F=7:6=1.1). Age at presentation was 8 years (range, 11 months-16 years). Of the 13 patients, 10 patients (69%) presented with abdominal pain, 5 (38%) with tumoral bleeding, and 2 (15%) with peritoneal rupture. All lesions were unique, nonmetastatic, and heterogeneous with cystic components measuring 14 (6-19) cm. Six (46%) patients had an upfront surgery: five because of wrong clinical diagnosis (three query mesenchymal hamartoma, one spontaneous peritoneal bleeding, and one cystic lymphangioma), and one because of rapid enlargement of the mass. Seven (54%) patients (including one with tumoral bleeding) received neoadjuvant chemotherapy, and had their tumor diameter decreasing by 40% (range, 0-60%). Final surgery consisted of seven right hepatectomies; one right extended hepatectomy; three mesohepatectomies; two left hepatectomies. There were three incomplete resection in the upfront surgery group versus none in the neoadjuvant chemotherapy group. The degree of tumor necrosis after chemotherapy ranged from 95 to 100%. Surgical complications included the following: liver transplantation (LT) following a Budd-Chiari syndrome after a mesohepatectomy, one biliary ducts injury treated by Roux-en-Y loop. All patients received the postoperative chemotherapy according to the European protocol. One of seven patients (14%) with neoadjuvant chemotherapy underwent radiotherapy for rupture at diagnosis versus three of six patients (50%) with upfront surgery: one for rupture at diagnosis and two for rupture during upfront surgery. One patient (17%) with upfront surgery had local recurrence at 2 years after initial surgery, and is in second complete remission 1 year after a redo surgery. All patients are alive at a median 34 months (range, 5-134) follow-up., Conclusion: USL presents with painful mixed cystic and solid liver mass. If misdiagnosed and mistreated (enucleation or unroofing), the usual good outcome of this malignancy could be impaired. Preoperative chemotherapy is recommended., (Georg Thieme Verlag KG Stuttgart · New York.)

Purpose: Due to the extensive initial distant tumour spread in metastatic rhabdomyosarcoma, the importance of local treatment is sometimes underestimated. A retrospective study was conducted to identify the prognostic value of aggressive local treatment in paediatric metastatic rhabdomyosarcoma., Patients: Patients with metastatic rhabdomyosarcoma aged 1-21 years treated in France from 1998 to 2011 according to European protocols MMT-4-89, 4-91, 98 and recent national guidelines were selected. Survival comparison were performed between patients with 'aggressive local treatment' (surgery and radiotherapy) and exclusive surgery or radiotherapy, after exclusion of patients with early progression. End-points were event-free and overall survival (OS)., Results: A total of 101 children, median age 9 years, with majority of primaries in unfavourable sites (73 patients, pts), T2 tumours (66 pts), alveolar subtypes (65 pts) and large tumours (>5 cm, 83 pts) received various chemotherapy regimens. On univariate and multivariate analyses, OS was better after 'aggressive local treatment' (49 pts; 44.3 ± 8%), than after exclusive surgery (10 pts; 18.8% ± 15.5%) or exclusive radiotherapy (29 pts; 16.1 ± 7.2%, P < 0.006). Moreover, OS was better in the case of surgery with complete resection (41.1 ± 10.2%) or microscopic residue (56.4 ± 14.9%) than macroscopic residue (20.0 ± 12.6%; P < 0.03)., Conclusions: In this large retrospective analysis, OS appeared to be better for patients receiving 'aggressive local treatment' even after adjustment for the initial patient and tumour characteristics. Isolated debulking surgery is associated with a very poor outcome and should be avoided. Aggressive local treatment in patients with rhabdomyosarcoma, even with metastasis, should be seriously considered., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Background: Clinical experience shows that the primary diagnosis of mesenchymal hamartoma (MHL) and embryonal sarcoma of the liver (ESL) recurrently is mistaken, leading to inadequate managements. We evaluated the accuracy of the primary diagnosis of those liver tumors, compared with the final histological diagnosis., Methods: Records of 25 children (0-16 years, treated 01/1989-01/2013) with final diagnosis of MHL or ESL were analyzed., Results: Final diagnosis was MHL in 18/25 children (10 solid-cystic, 2 cystic, 6 solid) and ESL in 7/25 (4 solid-cystic, 1 cystic, 2 solid). Only 3/7 ESL patients and 15/18 MHL patients fell into the "typical" age group. In 13/25 children primary diagnosis was based on imaging only. Overall, primary diagnosis was concordant with the final diagnosis in 17/25 patients. Of 99/25 biopsied cases, 4/9 biopsy results exposed the wrong final diagnosis; of cystic-solid masses 4/14 were mistaken, of cystic masses 1/3, of solid masses 3/8., Conclusion: Preoperative diagnosis of MHL and ESL is challenging because of atypical clinical presentation, misleading "typical" radiological findings, and difficult interpretation of biopsies. If feasible, complete surgical resection of, in particular, solid-cystic liver masses in the pediatric age group must be aimed for, to get a definitive, final diagnosis, followed by an adequate treatment strategy., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Purpose: We developed a new technique of temporary ovarian transposition (OT) for prepubertal girls undergoing brachytherapy. The aim of this study was to describe it, assess its feasibility and safety and calculate the dose delivered to the ovary in order to prove its efficacy., Methods: Sixteen prepubertal patients underwent temporary OT for brachytherapy at our center from March 2001 to December 2012. OT was done either by laparotomy or by laparoscopy. In all patients, the ovaries were grasped with an atraumatic forceps and mobilized above the iliac crest level as high as possible without any dissection or division of the ovarian ligaments or of the fallopian tube. They were sutured to the anterior abdominal wall by a transfixing stitch of non-dissolvable suture knotted on the outside of the patient on a pledget., Results: Median age at surgery was 3 years (range: 2-9 years). The integrity of the fallopian tube was respected and not a single ligament was dissected or divided. None of the patients had intraoperative or postoperative complications. The stitches were retrieved after completion of irradiation and the ovaries in all the patients fell back into the pelvis. The calculated median radiation dose to the ovary was 1.4 Gy (range: 0.4-2.4 Gy)., Conclusions: This surgical technique is simple and safe, either by laparotomy or by laparoscopy. It meets the radiation and physical constraints in prepubertal girls with vaginal or bladder RMS. However, longer follow-up is required to assess the ovarian function., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Purpose: Some children with extracranial germ cell tumors (GCT) relapse after or do not respond to first-line treatment combining chemotherapy and surgery, of whom very few experience long-term survival despite multimodal salvage treatment., Methods: This prospective study, part of the French TGM95 Protocol for non-seminomatous GCT (NSGCT), included 19 (7%) children with malignant refractory or recurrent extracranial NSGCT who were studied to identify prognostic factors and determine the best salvage treatment., Results: At the end of the first-line treatment, 10 and 9 children were in complete and incomplete remission, respectively. Events occurred within 2 years (5-23 months) after initial diagnosis. A progression was observed in 13 patients at least in one site initially involved. Two patients had a purely biological relapse (increase in isolated markers), and four patients had a purely metastatic relapse (brain location in three cases). After salvage treatment combining surgery and various types of chemotherapy (including high-dose chemotherapy (HDCT) in 10 cases), the 5-year event-free survival and overall survival rates were of 26% (95%CI: 9.6-46.8%) and 32% (95%CI: 12.9-52.2%), respectively. Patients who underwent complete surgery (or without any detectable tumor) had higher survival rate than patients who underwent partial surgery or for whom surgery was not feasible (P = 0.0003) at first relapse while this rate was similar between patients treated or not with HDCT., Conclusion: In pediatric recurrent or refractory NSGCT, complete excision of the tumor appears essential. The role of HDCT remains debated., (© 2013 Wiley Periodicals, Inc.)

Gonadotoxic therapies during childhood may impair future fertility in adult life and fertility preservation techniques should be discussed before starting gonadotoxic therapies. In both sexes, fertility preservation means immature gametes cryopreservation. For girls, ovarian tissue cryopreservation is the only existing option to preserve fertility in prepubertal girls at risk of premature ovarian failure. This promising approach involves the storage of a large number of follicles, which could subsequently be transplanted or cultured to obtain mature oocytes. For boys, spermatogonial stem cells can be cryopreserved and testicular pieces can be stored for future use. For prepubertal boys it is still an experimental procedure. Animal data reveals that healthy offspring were obtained after grafting of frozen spermatogonia and after in vitro maturation.

Background: The three sequential SIOP MMT studies provide the largest dataset available to date, to define the patient and tumour characteristics, treatment modalities and event-free and overall survival for children with non metastatic rhabdomyosarcoma (RMS) of the bladder and/or prostate (BP)., Procedure: The combined dataset of 172 patients with BP RMS treated on the SIOP MMT 84, 89 and 95 studies was reviewed to determine tumour characteristics, details of treatment and outcome., Results: Median age at diagnosis was 2.5 years (range 2 months-17.8 years) and 138 (79%) were males. Median follow-up was 11.4 years (range 3 months-22 years). The 5-year overall survival of the combined cohort was 77% (CI 70-83%). The 5-year event-free survival was 63% and included 7 patients (4%) who did not achieve complete remission (CR), and 57 (33%) who relapsed. Age ≥ 10 years (RR 3.7) and alveolar pathology (RR 3.3) were identified as independent prognostic factors on multivariate analysis. Fifty-nine (50%) of the 119 survivors were cured without significant local therapy, improving from 31% in MMT84 study to 61% in MMT95 study., Conclusion: The clinical strategy of the MMT studies aims to minimise the burden of therapy whilst maintaining survival rates. Overall survival is comparable to that of other international groups, despite the lower use of radiotherapy and or radical surgery, although number of events experienced is higher. Further assessment of the late effects of therapy is required to confirm whether this approach results in lower morbidity in the long-term., (© 2013 Wiley Periodicals, Inc.)

The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P). This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects without craniofacial alterations or syndromes. Statistical analysis was carried out using Fisher's test. From the 358 subjects with NSCL/P, 3 first-degree parents had history of leukemia, while 2 out of 1,432 subjects from the unaffected group had a family history of leukemia. The frequency of positive family history of leukemia was not significantly increased in first-degree relatives of patients with NSCL/P.

Context and Objective: Retinopathy of prematurity (ROP) is a known cause of blindness in which diagnosis and timely treatment can prevent serious harm to the child. This study aimed to evaluate the incidence of ROP and its association with known risk factors., Design and Setting: Longitudinal incidence study in the neonatal intensive care unit (NICU) of Universidade Estadual de Montes Claros., Methods: Newborns admitted to the NICU with gestational age less than 32 weeks and/or birth weight less than 1,500 grams, were followed up over a two-year period. The assessment and diagnosis of ROP were defined in accordance with a national protocol. The chi-square test or Fisher's exact test were used to determine associations between independent variables and ROP. Analysis on the independent effect of the variables on the results was performed using multiple logistic regression., Results: The incidence of ROP was 44.5% (95% confidence interval, CI = 35.6-46.1) in the study population. The risk factors associated with the risk of developing the disease were: birth weight less than 1,000 grams (odds ratio, OR = 4.14; 95% CI = 1.34-12.77); gestational age less than 30 weeks (OR = 6.69; 95% CI = 2.10-21.31); use of blood derivatives (OR = 4.14; 95% CI = 2.99-8.99); and presence of sepsis (OR = 1.99; 95% CI = 1.45-2.40)., Conclusions: The incidence of ROP was higher than that found in the literature. The main risk factors were related to extreme prematurity.

Germ cell tumours include a group of highly heterogeneous tumours regarding to their clinical and histological appearance. Altogether, they represent 3% of cancers diagnosed in children and adolescent younger than 15 years. A bimodal age distribution is observed with a small peak during infancy and a larger peak after puberty. Non-seminomateous germ cell tumours are largely predominant as compared to seminomateous tumours, rarely seen before puberty. During infancy, sacrococcygeal locations predominate with either teratomas in neonates or yolk sac tumours in infants above three months. In adolescents, mixed germ cell tumours predominate with either gonadal, mediastinal or intracranial tumour. Surgical resection of the tumour is fundamental and must be carcinologic and conservative at the same time. Neoadjuvant chemotherapy may help to decrease the volume of the tumour making possible a delayed sparing surgery. Indeed, except for teratomas, these tumours are highly sensitive to chemotherapy, in particular to platinum salts. Prognosis is good even in metastatic diseases. This raises the question of a therapeutic de-escalation in an attempt to decrease long-term toxicity, in particular audiologic and renal impairment. On the opposite, recurrent or refractory diseases after chemotherapy carry a dismal prognosis and therapeutic strategies remain to be defined in such situations.

Facing a child with suspected acute appendicitis it is important to remind that a child is not a smaller adult. The main risk is to over-diagnose acute appendicitis in elder children and to misdiagnose it in preschool children and infants because it is less frequent, with early complications, and/or confusing symptoms in these age groups. Careful anamnesis and examination of the whole child--not only the belly--are mandatory. Biological findings of bacterial infection and US findings suggesting acute appendicitis are helpful. In doubtful cases the best help is offered by observation of the patient, symptoms and signs worsening necessarily in case of an acute appendicitis.

Girls who undergo treatment for cancer are at risk of ovarian hormonal dysfunction and subfertility due to the detrimental effects of some chemotherapeutic agents and/or radiotherapy on the gonads. Consequently, fertility-preserving techniques shouldbe discussed before starting gonadotoxic therapy. Ovarian tissue cryopreservation is currently the only option to preserve fertility in prepubertal girls and should be considered if the risk of premature ovarian failure is high. This promising approach involves the storage of a large number of follicles, which may subsequently be transplanted or cultured to obtain mature ovocytes. The results of ovarian tissue cryopreservation in adults are encouraging: at least twenty children have been born after orthotopic autografting of frozen-thawed ovarian cortex. It has been shown twice that transplantedprepubertal ovarian tissue can induce puberty, confirming the functional capacity of frozen-thawed prepubertal ovarian tissue.

Brachytherapy in paediatric malignancies is rarely used, limited to expert institutions. The most frequent tumour sites treated with brachytherapy are gynaecological rhabdomyosarcomas, and prostate/bladder rhabdomyosarcomas. Ballistic advantages make brachytherapy technique the treatment of choice, with a high and selective protection of organs at risk. Techniques, brachytherapy modalities (low dose-rate, high dose-rate, pulsed dose-rate), doses and indications vary according to centres. Brachytherapy advantages are in relation with ballistic properties, allowing a very high dose to the target with normal tissue sparing. This review analyzes brachytherapy techniques, indications and results according to the two most frequent tumour sites: gynaecological and bladder/prostate tumours. This technique requires a muldisciplinary approach., (Copyright © 2013. Published by Elsevier SAS.)

Context: Tuberous sclerosis complex (TSC) is a genetic disease in the group known as neurocutaneous syndromes, with dominant autosomal inheritance. It is characterized by skin and adnexal lesions and central and peripheral nervous system tumors, with neurological and psychiatric findings. It may affect the heart, kidneys, eyes, face, bones, lungs, stomach and dentition., Case Report: We present the case of a 66-year-old man with dermatological signs that included hypopigmented maculae, confetti-like lesions, shagreen plaque, angiofibromas on nasolabial folds, neck and back, nail dystrophy and periungual fibromas on fingers and toes. An electroencephalogram produced normal results, but magnetic resonance imaging showed a nodular image measuring 1.2 x 1.0 cm close to the Monro foramen, which was similar to cerebral parenchyma and compatible with a subependymal giant-cell astrocytoma. A conservative approach was taken, through control imaging examinations on the lesion for seven years, with absence of any expansive process or neurological symptoms. Abdominal ultrasonography revealed a solid, heterogenic and echogenic mass with a calcified focus, measuring 4.6 x 3.4 cm, in the rightkidney, compatible with angiomyolipoma. The patient was treated by means of complete nephrectomy because of malignant areas seen on histopathological examination and died one month after the procedure. This case report illustrates the importance of oral clinical findings such as dental enamel pits and angiofibromas in making an early diagnosis of TSC, with subsequent screening examinations, treatment and genetic counseling.

Objective: To describe the main characteristics, including stage of disease and local treatment of patients admitted to two reference services for the treatment of breast cancer in the North of Minas Gerais., Methods: We conducted a cross-sectional descriptive study. We evaluated medical records of 288 female patients with breast cancer admitted between January 2006 and December 2009, referred from a public hospital and a private clinic. Variables were analyzed using the chi-square test and multinomial logistic regression., Results: 68.1% of patients were referred from the public hospital. There was a predominance of patients over 50 years old (54.5%), married (59%) and with children (87.8%). The mean age of the population studied was 63 years old. Time between suspected cancer and confirmation of diagnosis was over six months in 42.7% of patients. Cancer diagnosis was late (stage III and IV) in 47.6% of patients. Family history of breast cancer was present in 20.1%, 20.8% of them had performed self-breast examination, and 41% had been submitted to a mammogram., Conclusion: There was a higher prevalence of stage III/IV patients from the public service when compared to the private sector. We found that the major factors associated with the late diagnosis of breast cancer were the delay between suspected and confirmed diagnosis, the absence of family history of breast cancer and not having a mammogram.

Background: Localised pelvic rhabdomyosarcomas (pRMS) are rare tumours with a poorer prognosis than the majority of RMS. This study analysed patient outcome according to the type of local therapy delivered and the effect of disease-related factors on prognosis., Patients and Methods: 97 children with localised pRMS were enrolled in the SIOP-MMT84, 89 and 95 studies. After primary surgery or biopsy, all children received ifosfamide/actinomycin/vincristine-based chemotherapy. Radiotherapy and surgery were planned in patients failing to achieve complete remission., Results: Median age at diagnosis was 52 months [5 months-18 years]. IRS staging was I for five patients, II for 15 and III for 77. Patients had embryonal RMS (N = 41), alveolar RMS (N = 29), botryoid RMS (N = 3), or not otherwise specified RMS (N = 24)., Outcome: 87 patients achieved local control (90%), 37 relapsed (43%), mainly locally (84%). With a median follow-up of more than 10 years [4-22 years], 5-year OS was 66% (95% CI: 56-75%) and EFS was 52% (95% CI: 42-61%). Among the 18 IRS-I/II patients treated without radiotherapy, 15 survived. Seven out of the 20 IRS-III patients treated without local therapy died. In multivariate analysis, IRS staging, age greater than 10 years and lymph node involvement had a negative impact on OS. Perineal/perianal locations had a trend towards a worse prognosis., Conclusion: pRMS still have a relatively poor prognosis. Radiotherapy or brachytherapy is necessary for all IRS-III patients including those with radiological complete remission after neoadjuvant chemotherapy with or without surgery. Radiotherapy may be withheld in IRS-I patients and children under 3 years with IRS-II pRMS., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Introduction: Malignant sacrococcygeal (SC) germ cell tumours (GCT) may be diagnosed as primary pelvic tumour or malignant recurrence of foetal SC teratoma (FSCT) operated during the neonatal period. In order to evaluate the difference between these two populations, the authors report their experience with SC-GCT registered in the French TGM 95 protocol., Population and Methods: The protocol comprised risk-adapted-chemotherapy (CT) followed by surgery. Standard risk (SR: localized tumour completely resected) had no adjuvant therapy. Intermediate-Risk (IR: localized tumour, incomplete or no initial surgery with αFP<15,000 ng/ml) received Vinblastine-Bleomycin-Cisplatin regimen; while High-Risk (HR: αFP > 15,000 ng/ml and/or metastases) received Etoposide-Ifosfamide-Cisplatin., Results: Fifty-seven patients with SC-GCT, aged 0-80 months (median 16), were registered between 1995 and 2005. Nineteen patients had secondary SC-GCT after FSCT. All patients received CT: 17 IR and 1 SR after reevolution; 39 HR (25 with metastases). 51 patients underwent delayed surgery, which was incomplete in 8 patients., Evolution: Seventy-two percent of the secondary SC-GCT had systematic biological follow-up. αFP increasing was the first presenting sign in 80% of the cases. Patients with secondary SC-GCT had a lower median αFP level at diagnosis, were less frequently classified as HR and received less CT. The two groups with secondary vs. primary SC-GCT had a statistically similar favourable outcome (Overall Survival: 93.8% vs. 86.2%; Event-Free Survival: 89.2 vs. 78.2%; p > 0.34 and >0.32), respectively, but with less burden of therapy., Conclusions: SC-GCT has a good overall prognosis provided complete surgery is achieved and CT is administered to IR and HR patients. SC-GCT in patients followed by αFP after treatment for FSCT had less tumour extension than newly-diagnosed patients, probably because of earlier detection of the disease., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Background: Nonsyndromic cleft lip with or without cleft palate is a relatively common craniofacial defect with multifactorial inheritance. The association of the rs987525 single nucleotide variant, located in a gene desert at 8q24.21 region, has been consistently replicated in European populations. We performed a structured association approach combined with transcriptional analysis of the MYC gene to dissect the role of rs987525 in oral clefting susceptibility in the ethnically admixed Brazilian population., Methods: We performed the association study conditioned on the individual ancestry proportions in a sample of 563 patients and 336 controls, and in an independent sample of 221 patients and 261 controls. The correlation between rs987525 genotypes and MYC transcriptional levels in orbicularis oris muscle mesenchymal stem cells was also investigated in 42 patients and 4 controls., Results: We found a significant association in the larger sample (p = 0.0016; OR = 1.80 [95% confidence interval {CI}, 1.21-2.69], for heterozygous genotype, and 2.71 [95% CI, 1.47-4.96] for homozygous genotype). We did not find a significant correlation between rs987525 genotypes and MYC transcriptional levels (p = 0.14; r = -0.22, Spearman Correlation)., Conclusions: We present a positive association of rs987525 in the Brazilian population for the first time, and it is likely that the European contribution to our population is driving this association. We also cannot discard a role of rs987515 in MYC regulation, because this locus behaves as an expression quantitative locus of MYC in another tissue., (Copyright © 2012 Wiley Periodicals, Inc.)

Objectives: The aim of the study was to assess the diagnosis and management of solid pancreatic neoplasm in children and the type of surgical treatment, focusing on short- and long-term outcomes., Methods: We retrospectively reviewed the charts of all children who had undergone pancreatic resection for suspicion of pancreatic tumor in Kremlin Bicêtre Hospital, Paris, between 1986 and 2008. We studied the symptoms at diagnosis, the type of surgery, and the short- and long-term morbidity and mortality., Results: Of 18 patients identified, there were 7 pseudopapillary tumors, 3 neuroblastomas, 2 rhabdomyosarcomas, 1 acinar cell carcinoma, 1 endocrine cell carcinoma, 1 renal angiomyolipoma, and 3 pancreatic cysts. Symptoms at diagnosis were abdominal trauma, abdominal mass, and jaundice. Operative procedures were duodenopancreatectomy (11), mid-pancreatic resections (2), splenopancreatectomy (2), distal pancreatectomy (1), and tumorectomy (2). There were no deaths related to surgery. The postoperative morbidity rate was 45%, including 2 cases of fistula (11%) occurring after a mid-pancreatic resection and a pancreaticoduodenectomy. The median follow-up was 4.2 years (range 2-11). There was no diabetes mellitus, but there was 1 case of fat diet intolerance requiring pancreatic enzyme substitution. All of the children had a growth curve within normal limits., Conclusions: In this experience, pancreatic resections have proven to be a safe and efficient procedure, with low long-term morbidity, for the treatment of tumoral and selected nontumoral pancreatic masses.

Background: SIOPEL protocols have recommended liver transplantation for unresectable hepatoblastoma (HBL) after chemotherapy in absence of visible extrahepatic disease., Methods: This retrospective single center study includes 13 children treated following SIOPEL 3 or 4 protocols who underwent orthotopic liver transplantation (OLT) for HBL between February 2001 and May 2009., Results: Twelve patients had PRETEXT IV HBL, one had PRETEXT II P + HBL, two had pulmonary metastasis at diagnosis. Extra hepatic vascular involvement was present in seven patients (two vena cava, four main portal vein). Twelve patients received a deceased donor organ graft; wait time to OLT was 16 days (1-50 days). One patient received a living donor graft. Four patients did not undergo post-OLT chemotherapy because of major post-OLT surgical complications. Mean follow up was 3.1 years (1-5 years). Ten patients are alive, eight in first complete remission (CR), one is in second CR after two surgical pulmonary metastasis were removed, the latter is in second CR after a surgery for excision of two local recurrences and re-OLT for a secondary HBL in the first graft. Three patients died (two from tumor recurrence, one from cardiac failure after second OLT). Overall survival at 1 and 4 years was 100% and 83.3%., Conclusions: Application of SIOPEL protocols for treatment of HBL in a specialized multidisciplinary team with access to liver transplantation has resulted in excellent survival. Initial extrahepatic disease should not be considered a contraindication. Future refinements of the protocol need to be considered to reduce toxicity., (Copyright © 2011 Wiley Periodicals, Inc.)

Background: The purpose of this study was to evaluate the immunohistochemical profile of cytokeratins (Ck) in pseudoepitheliomatous hyperplasia of cutaneous leishmaniasis (CL)., Methods: The tissue samples, with pseudoepitheliomatous hyperplasia, were collected from 37 patients (age 6-85 years old) with indolent ulcers in skin confirmed as CL. The lesions were submitted to immunolabeling for Ck pairs 4-13, 5-14, and 6-16., Results: In the 37 CL cases, Ck4 and Ck13 staining were, in the majority of cases, negative. Of them, 33 and 35 cases were negative for Ck4 and Ck13, respectively. The Ck4 immunostaining was found in basal and parabasal layers, and Ck13 was viewed in the basal compartment of epithelium. Ck5 was found in 29 cases distributed homogeneously in all layers. Ck14 and Ck6 were found in all samples in all layers, and Ck16 was positive for all cases but heterogeneously found in the basal layer., Conclusion: In summary, we noticed that the pattern of some Ck staining in pseudoepitheliomatous hyperplasia in CL lesions revealed intense epithelial reinforcement, protection, and proliferation., (© 2011 The International Society of Dermatology.)

Objective: To compare the prevalence of orofacial manifestations between patients with and without sickle cell anemia and to investigate the distribution of such events in patients with sickle cell anemia by sex and age., Method and Material: A cross-sectional study was conducted in which 330 subjects divided into two groups (a group of individuals with sickle cell anemia and a healthy control group) were examined., Results: It was observed that patients with sickle cell anemia had a significantly higher prevalence of previous mental nerve neuropathy (P = .000) and delayed tooth eruption (P = .006) than patients without the disease. Regarding the distribution of orofacial manifestations in patients with sickle cell anemia by sex and age, the only statistical associations were between the prevalence of previous mental nerve neuropathy and sex (P = .023) and previous mandibular pain and age (P = .019)., Conclusions: This study found that sickle cell anemia is associated with the prevalence of previous mental nerve neuropathy and delayed tooth eruption. Moreover, previous mental nerve neuropathy is more frequent among females with sickle cell anemia, and previous mandibular pain is more frequent among individuals older than 21 years of age with sickle cell anemia. Further studies using a methodology similar to the one in this study are necessary considering the scarcity of studies using this approach.

Background: Systematic assessments of the scientific production can optimize resource allocation and increase research productivity in Brazil., Objective: The aim of this study was to evaluate the profile and scientific production of researchers in the field of Cardiology who have fellowship in Medicine provided by the Conselho Nacional de Desenvolvimento Científico e Tecnológico., Methods: The curriculum Lattes of 33 researchers with active fellowships from 2006 to 2008 were included in the analysis. The variables of interest were: gender, affiliation, tutoring of undergraduate, masters and PhD students, and scientific production and its impact., Results: : There was predominance of males (72.7%) and of fellowship level 2 (56.4%). Three states of the Federation were responsible for 94% of the researchers: SP (28; 71.8%), RS (4; 10.3%), e RJ (3; 9.1%). Four institutions are responsible for about 82% of researchers: USP (13; 39.4%), UNESP (5; 15.2%), UFRGS (4; 12.1%) e UNIFESP (3; 9.1%). During all academic careers, the researchers published 2.958 journal articles, with a mean of 89 articles per researcher. Of total, 55% and 75% were indexed at Web of Science and Scopus databases, respectively. The researchers received a total of 19648 citations at the database Web of Science, with a median of 330 citations per researcher (IQ = 198-706). The average number of citations per article was 13.5 citations (SD = 11.6)., Conclusion: Our study has shown that researchers in the field of cardiology have a relevant scientific production. The knowledge of the profile of researchers in the field of Cardiology will probably enable effective strategies to qualitatively improve the scientific output of Brazilian researchers.

Background: Adhesive procedures are often required to restore teeth affected by hypocalcified amelogenesis imperfecta (HAI)., Aim: To evaluate the hardness of enamel/dentin of teeth affected by HAI and the bond strength to these substrates, as well the influence of 5% NaOCl on bond strength., Design: Permanent molars presenting HAI and sound third molars were used. Enamel surfaces were wet-flattened and Knoop hardness was assessed. The two-step, etch-and-rinse adhesive Single Bond 2 (3M ESPE) was applied and resin cylinders bonded to the surfaces and submitted to microshear testing. The subjacent medium dentin was then exposed by wet-grinding. Hardness readings and microshear testing were carried out again. The relationship between hardness and bond strength was assessed by nonlinear regression analysis., Results: Hardness of normal enamel was higher than hardness of enamel affected by HAI, whereas dentin hardness did not differ from normal to HAI-affected teeth. Enamel and dentin hardness were similar for teeth affected by HAI. Higher bond strengths were obtained to the normal tooth tissues. Dentin bond strength was higher than enamel bond strength. NaOCl exposure did not influence bond strengths. A positive linear relationship between enamel hardness and bond strength was observed., Conclusion: HAI imposes challenges to bonding to enamel and dentin., (© 2011 The Authors. International Journal of Paediatric Dentistry © 2011 BSPD, IAPD and Blackwell Publishing Ltd.)

Publications on brachytherapy in paediatric malignancies are scarce, limited to expert institutions. Techniques, brachytherapy modalities (low dose-rate, high dose-rate, pulsed dose-rate), doses and indications vary according to centres. The most frequent tumor sites treated with brachytherapy are gynaecological rhabdomyosarcomas, prostate/bladder rhabdomyosarcomas and soft-tissue sarcomas. Brachytherapy advantages are in relation with ballistic properties, allowing a very high dose to the target with normal tissue sparing. This review analyzes brachytherapy techniques and indications according to tumor sites, brachytherapy results and perspectives. This technique requires a muldisciplinary approach.

Objective: This study aimed at evaluating the profile and scientific production of researchers in Nephrology and Urology, receiving grants in the area of Clinical Medicine from the Brazilian National Research Council., Methods: The standardized online curriculum vitae (Curriculum Lattes) of 39 researchers in Medicine receiving grants in the 2006-2008 triennium were included in the analysis. The variables analyzed were: gender, affiliation, time from completion of the PhD program, scientific production, and supervision of undergraduate students, and master's and PhD programs., Results: Males (74.4%) and category 2 grants (56.4%) predominated. The following three Brazilian states are responsible for 90% of the researchers: São Paulo (28; 71.8%); Rio Grande do Sul (4; 10.3%); and Minas Gerais (3; 7.7%). Four institutions are responsible for 70% of the researchers: UNIFESP (14; 36%); USP (8; 20.5%); UFMG (3, 7.7%); and UNICAMP (3; 7.7%). Considering the academic career, the assessed researchers published 3,195 articles in medical journals, with a median of 75 articles per researcher (QI = 52-100). The researchers received a total of 25,923 citations at the database Web of Science®, with a median of 452 citations per researcher (QI = 161-927). The average number of citations per article was 13.8 citations (SD = 11.6)., Conclusions: The Southeastern region of Brazil concentrates researchers in Nephrology and Urology. Our study has shown an increase in the scientific production of most researchers in the last five years. By knowing the profile of researchers in Nephrology and Urology, more effective strategies to encourage the scientific production and the demand for resources to finance research projects can be defined.

Objectives: Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics., Material and Methods: The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a brief review of the literature about this genetic disorder is presented., Results: All patients demonstrated the classical triad of GS, including mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies. In addition, renal and gastrointestinal abnormalities were observed in 2 patients. Regarding the oral involvement, 2 patients presented cleft lip and palate, and 1 patient had temporomandibular joint malformation. Malocclusion was found in all patients., Conclusion: Our orofacial findings correlate with the reported cases in the literature, and point out that after diagnosis GS patients need to be examined for systemic abnormalities.

Objective: To compare the clinical data at diagnosis, treatment and neurological outcome in 34 children with opsoclonus-myoclonus syndrome (OMS) associated with a detected neuroblastoma or not., Study Design: This is a multicentric retrospective study of 34 children presenting with OMS from four pediatric centers diagnosed between 1988 and 2008., Results: Twenty-two patients had OMS associated with a neuroblastoma. These patients all had neuroblastomas with favourable prognostic features; all underwent surgery, six received chemotherapy. Twelve children had OMS without a detected neuroblastoma. For OMS, the main treatment in all children was corticotherapy (n=33), but immunoglobulins (n=13), cyclophosphamide (n=4) and rituximab (n=4) were also given. In the 27 OMS patients with or without neuroblastoma whose follow up was greater than two years, the neurological outcome was evaluated: 59.3% had neurological sequelae, including motor, praxic and/or language sequelae (n=9), persistent ataxia (n=6) and moderate motor deficit (n=3). No significant difference in neurological outcome was noted between the two patient groups., Conclusion: Our retrospective study provides further evidence that OMS with or without a detected neuroblastoma is the same disease, whose major challenges are the neurological sequelae. An international collaboration is required to improve the knowledge about OMS, the treatment and the outcome in this rare disorder., (Copyright (c) 2009 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Hemifacial hyperplasia is a developmental disorder characterized by marked unilateral facial asymmetry. It involves the hard and soft tissues of the face. The cause is unknown, although several predisposing factors have been described. A case report of an 8-year-old boy with hemifacial hyperplasia is presented to highlight the clinical and imaging findings.

In Menkes disease, arterial tortuosity is frequent, whereas true aneurysms are rare. Here, we report aneurysmal pathology occurring in an infant with Menkes disease. An iliac aneurysm was diagnosed in a 2-month-old boy and attributed to Menkes syndrome on the basis of plasma copper deficiency. Samples of the aneurysmal wall were taken during surgery for histopathological analysis. As in other forms of aneurysm, the arterial wall was characterized by smooth muscle cell (SMC) disappearance, linked to SMC apoptosis and oxidative stress, areas of mucoid degeneration, and extracellular matrix breakdown, including disappearance of elastic fibers and presence of abnormal collagen.

Background/purpose: Central hepatoblastomas (CHBL) involving liver segments (IV + V) or (IV + V + VIII) are in contact with the portal bifurcation. Their resection may be achieved by central hepatectomy (CH) with thin resection margins on both sides of the liver pedicle, by extended right or left hepatectomy with thin resection margins on one side, or by liver transplantation with thick free margins. The aim of this study is to assess the operative and postoperative outcome of CH for hepatoblastoma., Methods: This was a retrospective monocentric study of 9 patients who underwent CH for CHBL between 1996 and 2008., Results: The operative time was 4 hours 50 minutes (2 hours 20 minutes to 7 hours), vascular clamping lasted 30 minutes (0-90 minutes), and the amount of blood cell transfusion was 250 mL (0-1800 mL). Two patients had biliary leakage requiring percutaneous drainage. Median follow-up time was 27 months (14-120 months). All of 8 nonmetastatic patients are alive and disease-free; 1 metastatic patient died of recurrent metastases at last follow-up. Although 3 of 9 patients had surgical margins less than 1 mm, none, including the patients who died from metastases, had local recurrence., Conclusions: Our study demonstrates the feasibility of CH for CHBL without operative mortality or local recurrence. Central hepatectomy is an alternative to extensive liver resections in selected patients.

Gingival fibromatosis is an enlargement localized or generalized of the gingival tissue characterized by an expansion and accumulation of the connective tissue, predominantly type I collagen, with occasional presence of increased number of cells, supposed fibroblastic proliferation. Gingival fibromatosis can be induced as a side effect of systemic drugs, such as phenytoin, cyclosporin, and nifedipine, or due to hereditary factors. However, in some cases, the gingival overgrowth is idiopathic. This paper reports two cases of idiopathic gingival fibromatosis and discusses the diagnosis, histopathological features, treatment and immunohistochemical evaluation of myofibroblasts of this condition. The tissues removed were fixed in formalin, and sections used for hematoxylin and eosin and Masson tricromic stain. To determine the presence of myofibroblasts, we performed immunohistochemistry against a-SMA protein. Histological examination revealed epithelial hyperplasia with long rete pegs and increase in the dense fibrous connective tissue. The Masson tricromic stain revealed wide bundles of collagen strongly stained. It was showed negative labeling to a-SMA. These results strongly suggest that myofibroblasts are not involved in gingival overgrowth in the cases of IGF reported. Future studies will be necessary to determine the pathogenesis of idiopathic gingival fibromatosis.

Purpose: Ciliated Hepatic Foregut Cyst (CHFC) is a rare congenital lesion arising from the embryonic foregut. Since squamous cell carcinomas arising from CHFC have been reported in adults, complete resection should be considered. We report our experience with CHFC., Methods: We reviewed the charts of 2 patients who had surgery after prenatal detection of a CHFC and 2 patients with postnatal diagnosis., Results: Two patients had antenatally detected liver cyst. Postnatal ultrasonography showed a cyst in segment IV, with wall calcifications and sediments. Bile ducts were encased in the wall of the cyst. They underwent central hepatectomy with double biliary diversion and uneventful post operative course. The two other patients underwent non anatomical resection of a cyst on the left lobe and in segment IV, found prior or during liver surgery. Pathology examination showed cysts filled with mucinous fluid, surrounded by an epithelium composed of ciliated cells. One case had a squamous metaplasia., Conclusion: In infants, CHFC are found antenatally or incidentally. A solitary uni or mutilocular cyst with wall calcifications, sediments, located in the central liver segments should raise the diagnosis. Resection of large cysts in the central segments of the liver is challenging and biliary diversion should be considered.