Search results for "rare disease"
showing 10 items of 154 documents
The Small Size and Superficial Location Suggest That Laparoscopic Partial Nephrectomy Is the First Choice for the Treatment of Juxtaglomerular Cell T…
2021
BackgroundJuxtaglomerular cell tumor (JGCT) is a very rare disease, and surgical resection is the only possible way to cure this tumor. Open nephrectomy and partial nephrectomy have been reported to manage JGCTs with excellent results in the previous reviews. Laparoscopic surgery has been popularized in recent years, while critical issues associated with laparoscopic surgical management have been seldom reported. We summarized the JGCTs in our center to discover the optimal surgical management and its anatomic foundation.MethodsIn this retrospective study, we enrolled a total of 14 JGCT patients. All patients received surgeries and were followed up for up to 11 years. We mainly summarized t…
CT and MR Imaging Evaluation of Hepatic Adenoma
2006
Hepatic adenoma is a rare benign epithelial tumor that is usually encountered in young women who use oral contraceptives. It is clinically significant because of the risk of hemorrhage and of its low-grade malignancy potential. Adenomas usually are mildly hypervascular at contrast-enhanced CT and MR imaging, and heterogeneous due to the presence of hemorrhage, necrosis, calcifications and fat. The objective of our study was to illustrate the CT and MR imaging findings of hepatic adenoma.
Aceruloplasminaemia: a family with a novel mutation and long-term therapy with deferasirox.
2014
Ceruloplasmin is a member of the multicopper oxidase family that plays a major role in the transport of iron in the body. Aceruloplasminaemia (ACP) is a rare disease and is clinically identified by iron overload in liver, pancreas, brain, and other organs, and by microcytic anaemia. So far, the iron chelator deferasirox was given for therapy only up to 6 months due to side effects. Here, we describe a novel mutation leading to ACP and report for the first time a long-term therapy, that is, 2 years with deferasirox. ACP was diagnosed in 3 siblings using clinical and biochemical characteristics, HFE and ceruloplasmin mutational analysis, liver biopsy, brain-, liver-, and heart-MRI. For iron d…
Inflammatory Pseudotumor of Mediastinum Treated with Tomotherapy and Monitored with FDG-PET/CT: Case Report and Literature Review
2010
Mediastinal inflammatory pseudotumor is a rare disease with reactive pseudoneoplastic features and a proven capacity for local invasion. The radiographic appearance of inflammatory pseudotumor is quite non-specific and the definitive diagnosis is based on the histological evaluation of tissue specimens. Resection of the lesion is the treatment of choice. However, nonsurgical treatments such as radiotherapy and steroids have been employed in the setting of incomplete surgical resection, tumor recurrence, and patients being unfit for surgery. The case described here is being reported because of the rare mediastinal location and atypical treatment approach including salvage irradiation and mon…
A very rare cause of retroperitoneal bleeding in young patients: do not forget the occurrence of a ruptured left gastroepiploic artery aneurysm!
2019
Visceral artery aneurysms represent a very rare condition. The affected patients usually present as emergency secondary to the sudden rupture of the aneurysm or as an incidental finding on imaging. In this setting, gastric and gastroepiploic aneurysms account for only about 4% of all the splancnic aneurysms. Since ruptured visceral aneurysms present a high mortality, a prompt and adequate (surgical or radiological interventional) treatment is mandatory. Due to the difficulty in achieving an adequate transcatheter access in some cases the emergency laparotomy may represent the only chance for the recover of the affected patients. We report two cases of ruptured left gastroepiploic aneurysms …
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
2010
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.
Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter stud…
2012
Recently, the number of studies on male breast cancer (MBC) has been increasing. However, as MBC is a rare disease there are difficulties to undertake studies to identify specific MBC subgroups. At present, it is still largely unknown whether BRCA-related breast cancer (BC) in men may display specific characteristics as it is for BRCA-related BC in women. To investigate the clinical–pathologic features of MBC in association with BRCA mutations we established a collaborative Italian Multicenter Study on MBC with the aim to recruit a large series of MBCs. A total of 382 MBCs, including 50 BRCA carriers, were collected from ten Italian Investigation Centres covering the whole country. In MBC p…
Survival for patients with rare haematologic malignancies: Changes in the early 21st century
2017
Abstract Introduction Population-level survival has improved for common haematologic malignancies in the early 21st century. However, relatively few population-level data are available for rare haematologic malignancies. Methods Data were extracted from 12 cancer registries in Germany and the Surveillance, Epidemiology and End Results database in the United States (US). Cases of haematologic malignancies with an incidence of less than 1 per 100,000 were selected for analysis. Period analysis was used to determine 5-year relative survival (RS) for the years 2003–2012, and modelled period analysis was used to determine changes in survival between 2003–2007 and 2008–2012. Results Seven individ…
Survival of Adults with Acute Lymphoblastic Leukemia in Germany and the United States
2014
BackgroundAdulthood acute lymphoblastic leukemia (ALL) is a rare disease. In contrast to childhood ALL, survival for adults with ALL is poor. Recently, new protocols, including use of pediatric protocols in young adults, have improved survival in clinical trials. Here, we examine population level survival in Germany and the United States (US) to gain insight into the extent to which changes in clinical trials have translated into better survival on the population level.MethodsData were extracted from the Surveillance, Epidemiology, and End Results database in the US and 11 cancer registries in Germany. Patients age 15-69 diagnosed with ALL were included. Period analysis was used to estimate…
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy
2014
Introduction Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE type I) or dysfunction (C1-INH-HAE type II) is a rare disease characterized by recurrent episodes of edema with an estimated frequency of 1:50,000 in the global population without racial or gender differences. In this study we present the results of a nationwide survey of C1-INH-HAE patients referring to 17 Italian centers, the Italian network for C1-INH-HAE, ITACA. Methods Italian patients diagnosed with C1-INH-HAE from 1973 to 2013 were included in the study. Diagnosis of C1-INH-HAE was based on family and/or personal history of recurrent angioedema without urticaria and on antigenic and/or functional C1-INH def…