Castellani D.,Belcolle Hospital
Urologia | Year: 2015
Hemangiopericytoma (HPC) is an uncommon perivascular tumor, first described in 1942, occurring most frequently in the extremities (pelvis, meninges, head and neck), and rarely affecting the urogenital system. In 1870, Wagner published the first histological description of a Solitary Fibrous Tumor (SFT) of the pleura. It is now thought that the majority of lesions previously called hemangiopericytomas (HPCs) are essentially indistinguishable from solitary fibrous tumors (SFTs). Nowadays, the new WHO classification of soft tissue tumors categorizes most HPCs as SFTs. We report the first case of penile SFT-HPC in a 44-year-old man, presenting with a 3-year history of slow-growing penile mass. The patient underwent a tumor excision. Six months after surgery he is free of local recurrence and distant metastasis.
Adjuvant chemotherapy with cisplatin and gemcitabine versus chemotherapy at relapse in patients with muscle-invasive bladder cancer submitted to radical cystectomy: An italian, multicenter, randomized phase iii trial
Cognetti F.,Regina Elena Cancer Institute |
Ruggeri E.M.,Belcolle Hospital |
Felici A.,Regina Elena Cancer Institute |
Gallucci M.,Regina Elena Cancer Institute |
And 6 more authors.
Annals of Oncology | Year: 2012
Background: The purpose of the study was to evaluate the benefit of adjuvant chemotherapy (AC) versus surgery alone in patients with muscle-invasive bladder cancer (MIBC). Patients and methods: One hundred and ninety-four patients with pT2G3, pT3-4, N0-2 transitional cell bladder carcinoma were randomly allocated to control (92 patients) or to four courses of AC (102 patients). These latter patients were further randomly assigned to receive gemcitabine 1000 mg/m 2 days 1, 8 and 15 and cisplatin 70 mg/m 2 day 2 or gemcitabine as above plus cisplatin 70 mg/m 2 day 15, every 28 days. Results: At a median follow-up of 35 months, the 5-year overall survival (OS) was 48.5%, with no difference between the two arms [P = 0.24, hazard ratio (HR) 1.29, 95% confidence interval (CI) 0.84-1.99]. Mortality hazard was significantly correlated with Nodes (N) and Tumor (T) stage. The control and AC arms had comparable disease-free survival (42.3% and 37.2%, respectively; P = 0.70, HR 1.08, 95% CI 0.73-1.59). Only 62% of patients received the planned cycles. A significant higher incidence of thrombocytopenia was observed in patients receiving cisplatin on day 2 (P = 0.006). A similar global quality of life was observed in the two arms. Conclusion: The study was underpowered to demonstrate that AC with cisplatin and gemcitabine improves OS and disease-free survival in patients with MIBC. © The Author 2011. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved.
Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised
Sinibaldi L.,Mendel Institute |
Sinibaldi L.,Belcolle Hospital |
Ursini G.,Lieber Institute |
Castori M.,San Camillo Forlanini Hospital
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | Year: 2015
Psychological distress is a known feature of generalized joint hypermobility (gJHM), as well as of its most common syndromic presentation, namely Ehlers-Danlos syndrome, hypermobility type (a.k.a. joint hypermobility syndrome - JHS/EDS-HT), and significantly contributes to the quality of life of affected individuals. Most published articles dealt with the link between gJHM (or JHS/EDS-HT) and anxiety-related conditions, and a novel generation of studies is emerging aimed at investigating the psychopathologic background of such an association. In this paper, literature review was carried out with a semi-systematic approach spanning the entire spectrum of psychopathological findings in gJHM and JHS/EDS-HT. Interestingly, in addition to the confirmation of a tight link between anxiety and gJHM, preliminary connections with depression, attention deficit (and hyperactivity) disorder, autism spectrum disorders, and obsessive-compulsive personality disorder were also found. Few papers investigated the relationship with schizophrenia with contrasting results. The mind-body connections hypothesized on the basis of available data were discussed with focus on somatotype, presumed psychopathology, and involvement of the extracellular matrix in the central nervous system. The hypothesis of positive Beighton score and alteration of interoceptive/proprioceptive/body awareness as possible endophenotypes in families with symptomatic gJHM or JHS/EDS-HT is also suggested. Concluding remarks addressed the implications of the psychopathological features of gJHM and JHS/EDS-HT in clinical practice. © 2015 Wiley Periodicals, Inc.
Feriozzi S.,Belcolle Hospital |
Torras J.,University of Barcelona |
Cybulla M.,University Hospital Freiburg |
Nicholls K.,Royal Melbourne Hospital |
And 2 more authors.
Clinical Journal of the American Society of Nephrology | Year: 2012
Background and objectives Fabry disease is a rare X-linked disease with multisystemic manifestations. This study investigated the effectiveness of long-term enzyme replacement therapy with agalsidase alfa in Fabry nephropathy treatment. Design, setting, participants, & measurements In this observational study, data on patients receiving agalsidase alfa (0.2 mg/kg every other week) were extracted from the Fabry Outcome Survey, an international registry of patients with Fabry disease. Serum creatinine and estimated GFR (eGFR) at baseline and after ≥5 years of treatment were assessed; 24-hour urinary protein excretion and BP measurements were also reviewed. The eGFR was calculated using the Chronic Kidney Disease Epidemiology Collaboration formula. Patients with an eGFR<30 ml/min per 1.73 m 2 were excluded. Results Renal function was assessed in 208 patients (mean enzyme replacement therapy, 7.4 years; range, 5.0-11.2 years). Mean yearly change in eGFR was 22.2 ml/min per 1.73 m 2 in men and 20.7 ml/min per 1.73 m 2 in women (95% confidence limits, 22.8; 21.7 and 21.4; 0.0, respectively). Patients with 24-hour protein excretion.1 >/24h had poorer renal function at baseline and follow-up compared with patients with protein excretion of 500-1000 mg/24 h or with proteinuria<500 mg/24 h. Renal function was worse in patients with baseline arterial hypertension, and there was a more rapid yearly decline compared with normotensive patients. Conclusions This study suggests that long-term agalsidase alfa therapy is able to stabilize the rate of Fabry nephropathy progression in women and is associated with a mild to moderate decline of renal function in men. © 2012 by the American Society of Nephrology.
Armignacco O.,Belcolle Hospital |
Ferri F.,Belcolle Hospital |
Gomez-Morales M.A.,Instituto Superiore Of Sanita |
Caterini L.,Belcolle Hospital |
Pozio E.,Instituto Superiore Of Sanita
American Journal of Tropical Medicine and Hygiene | Year: 2013
We describe the diagnostic difficulties experienced during an opisthorchiasis outbreak. Of 31 infected individuals, 61.3% were asymptomatic, and in the 12 symptomatic individuals, the duration of non-pathognomonic symptoms was shorter than 4 weeks. Serology by enzyme-linked immunosorbent assay and polymerase chain reaction fecal analysis were shown to be the most sensitive diagnostic tools. Copyright © 2013 by The American Society of Tropical Medicine and Hygiene.
Parini R.,San Gerardo Hospital |
Feriozzi S.,Belcolle Hospital
Expert Opinion on Orphan Drugs | Year: 2013
Introduction: Anderson-Fabry disease (AFD) is a hereditary disorder caused by lysosomal enzyme α-galactosidase A deficiency, previously thought to affect adult males only. Recently, it has become clear that women and children are also affected. Clinical data for enzyme replacement therapy (ERT) show that the two available agents, agalsidase α and β, improve or stabilize AFD in men; however, data in women and children are limited. Areas covered: The authors review AFD clinical phenotype and ERT clinical data, and discuss the timing of ERT initiation in women and children. Clinical trials and registry data were found from PubMed literature searches using search terms 'Anderson-Fabry disease' AND 'enzyme replacement therapy' AND 'children/paediatric' OR 'women/female'. Papers were selected manually from the search results. Expert opinion: Doubts remain about the correct time to start treatment in women and children. Early treatment is supported by the observation that ERT effects are reduced in advanced AFD. However, pre-symptomatic ERT does not appear to be advocated, unless, in an individual patient, a marked improvement in QoL would be achieved. Tools to identify those who are likely to progress to overt disease are required. Currently, assessment of disease burden entails accurate and detailed evaluation by AFD-related specialists. © 2013 Informa UK, Ltd.
Waldek S.,31 Harboro Road |
Feriozzi S.,Belcolle Hospital
BMC Nephrology | Year: 2014
Fabry disease is a rare, X-linked, lysosomal storage disease caused by mutations in the gene encoding the enzyme alpha-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, epithelial cells and the tubular cells of the distal tubule and loop of Henle contribute to the renal symptoms of Fabry disease, which manifest as proteinuria and reduced glomerular filtration rate leading to chronic kidney disease and progression to end-stage renal disease. Early diagnosis and timely initiation of treatment of Fabry renal disease is an important facet of disease management. Initiating treatment with enzyme replacement therapy (ERT; agalsidase alfa, Replagal®, Shire; agalsidase beta, Fabrazyme®, Genzyme) as part of a comprehensive strategy to prevent complications of the disease, may be beneficial in stabilizing renal function or slowing its decline. Early initiation of ERT may also be more effective than initiating therapy in patients with more advanced disease. Several strategies are required to complement the use of ERT and treat the myriad of associated symptoms and organ involvements. In particular, patients with renal Fabry disease are at risk of cardiovascular events, such as high blood pressure, cardiac arrhythmias and stroke. This review discusses the management of renal involvement in Fabry disease, including diagnosis, treatments, and follow-up, and explores recent advances in the use of biomarkers to assist with diagnosis, monitoring disease progression and response to treatment. © 2014 Waldek and Feriozzi; licensee BioMed Central Ltd.
Feriozzi S.,Belcolle Hospital |
Polci R.,Belcolle Hospital
Journal of Nephrology | Year: 2016
The IgA nephropathy (IgAN) is a very common glomerulonephritis and can result in end-stage renal disease. From a clinical point of view, IgAN is characterised by repeated events of macrohaematuria associated with infections of the upper airways. In IgAN, the IgA released by the tonsillar lymphatic tissue into blood circulation are defective in glycosylation. These aberrant IgA can reach the glomeruli and deposit into mesangium causing an inflammation with cellular proliferation. The treatment is not yet well defined: steroids and immunosuppressive drugs are suggested in cases with a progressive disease. Tonsillectomy was proposed to reduce the infective events of upper airways and the lymphatic tissue producing undergalactosylated IgA. The experiences in literature coming from Asia report positive effects of tonsillectomy on IgAN. In patients with tonsillectomy, the renal signs improved (less haematuria and proteinuria) and the renal outcome was better (slower progression of renal damage). These were uncontrolled studies and tonsillectomy was associated with steroid and immunosuppressive treatment, so it is not possible to tell the real effect of tonsillectomy. In contrast, the European studies reported that the tonsillectomy was not associated with a better outcome of IgAN. A critical review of the subject reveals that most of the papers with positive results were uncontrolled retrospective experiences, while in a randomised controlled trial paper the advantages of tonsillectomy disappeared. In conclusion, this review, in agreement with the international guidelines, concludes that tonsillectomy does not play any role in the progression of IgAN. © 2015, Italian Society of Nephrology.
Sabbi T.,Belcolle Hospital
La Pediatria medica e chirurgica : Medical and surgical pediatrics | Year: 2011
Helicobacterpylori (Hp) is mainly acquired during childhood and causes one of the most widespread infections worldwide; it is recognised as a cause of gastritis and peptic ulcer and it has been classified as a group A carcinogen by World Health Organization. This infection can be diagnosed by invasive techniques requiring endoscopy and biopsy (histological examination, rapid urease test, culture) and by non invasive tests (serology, urea breath test, detection of Hp antigen stool specimen). The gold standard in the eradication of Hp is one-week triple therapy: one proton pump inhibitor (PPI) and two antibiotics (mainly nitromidazoles, macrolides and beta-lactames). It is possible the use of probiotics during this therapy to reduce the adverse effects, to improve tolerability and compliance of multiple antibiotics regimens.
Armignacco O.,Belcolle Hospital |
Ferri F.,Belcolle Hospital
Acta Tropica | Year: 2013
The liver fluke Opisthorchis felineus is one of the few zoonotic trematodes that circulates in the European Union (EU). It is transmitted from freshwater snails to fish and then to fish-eating mammals, including humans, in which it causes opisthorchiasis. In the 20th century, the majority of infections in humans have been reported in Eastern Europe (e.g., Belarus, Russia, and Ukraine) and Asia (Siberia). In EU in the last fifty years, the parasite has been detected in humans of Germany and Greece, and in red foxes, polecats, cats, dogs, fish and mollusks of Germany, Italy, Poland, Portugal and Spain. In Italy, four individual cases and eight outbreaks of opisthorchiasis were reported from 2003 to 2011, for a total of 211 confirmed infections in humans. All infected persons had consumed raw fillets of tench (Tinca tinca) fished from two lakes in central Italy, but some of infected people were tourists who developed the disease in their respective home-countries. In the past decade, it has become increasingly popular to consume raw marinated fillets of fish. The objective of this review is to show how a change in human food habits have caused and increased the transmission of O. felineus, which has probably been circulating in the EU yet in a silent form for many years. © 2013 Elsevier B.V.