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Sample records for rare cancers wrkshop

  1. Rare cancers are not so rare: The rare cancer burden in Europe

    NARCIS (Netherlands)

    Gatta, Gemma; Zwan, van der Jan Maarten; Casali, Paolo G.; Siesling, Sabine; Dei Tos, Angelo Paolo; Kunkler, Ian; Otter, Renee; Licitra, Lisa

    2011-01-01

    Purpose: Epidemiologic information on rare cancers is scarce. The project Surveillance of Rare Cancers in Europe (RARECARE) provides estimates of the incidence, prevalence and survival of rare cancers in Europe based on a new and comprehensive list of these diseases. Materials and methods: RARECARE

  2. Hopes Dashed for Rare Bone Cancer Treatment

    Science.gov (United States)

    ... news/fullstory_160652.html Hopes Dashed for Rare Bone Cancer Treatment Extra chemo drugs failed to change course of ... t benefit patients with a rare type of bone cancer, according to a new ... teenagers. With current treatments, only 65 to 70 percent of patients live ...

  3. The rare histological forms of gallbladder cancer

    OpenAIRE

    Lytvynenko M.V.; Rosha L.G.; Chetverykov S.G.; Vododuk V.U.; Sherstiuk S.A.; Katsap A.V.

    2011-01-01

    In the practice of surgeons meet the rare forms of gallbladder cancer, with atypical clinical course. The aim of ourinvestigation was revealed peculiarity of clinical display the rarely forms of gallbladder cancer. According to literaturesquamous cell carcinoma found in the gallbladder in 7% case.

  4. A RARE 10 PRIMARY CANCERS

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    @@ Here we report an unusual case with ten primary cancers. The patient was a 74 years old male and died in 1999. He had had ten primary cancers from 1972 to 1999. 1) Diagnosed as adenocarcinoma in the transverse colon, Duke's B.

  5. Rare cancers of the head and neck area in Europe

    NARCIS (Netherlands)

    Van Dijk, B. A. C.; Gatta, G.; Capocaccia, R.; Pierannunzio, D.; Strojan, P.; Licitra, L.

    The RARECARE project has proposed a different and more detailed grouping of cancers, based on localisation and histological type, in order to identify rare entities with clinical meaning. RARECARE gathered data on cancer patients diagnosed from 1978 to 2002 and archived in 76 population-based cancer

  6. Rare cancers of the head and neck area in Europe

    NARCIS (Netherlands)

    Van Dijk, B. A. C.; Gatta, G.; Capocaccia, R.; Pierannunzio, D.; Strojan, P.; Licitra, L.

    2012-01-01

    The RARECARE project has proposed a different and more detailed grouping of cancers, based on localisation and histological type, in order to identify rare entities with clinical meaning. RARECARE gathered data on cancer patients diagnosed from 1978 to 2002 and archived in 76 population-based cancer

  7. Rare variants in XRCC2 as breast cancer susceptibility alleles

    NARCIS (Netherlands)

    Hilbers, F.S.; Wijnen, J.T.; Hoogerbrugge-van der Linden, N.; Oosterwijk, J.C.; Collee, M.J.; Peterlongo, P.; Radice, P.; Manoukian, S.; Feroce, I.; Capra, F.; Couch, F.J.; Wang, X.; Guidugli, L.; Offit, K.; Shah, S.; Campbell, I.G.; Thompson, E.R.; James, P.A.; Trainer, A.H.; Gracia, J.; Benitez, J.; Asperen, C.J. van; Devilee, P.

    2012-01-01

    BACKGROUND: Recently, rare germline variants in XRCC2 were detected in non-BRCA1/2 familial breast cancer cases, and a significant association with breast cancer was reported. However, the breast cancer risk associated with these variants needs further evaluation. METHODS: The coding regions and exo

  8. NIH scientists provide new insight into rare kidney cancer

    Science.gov (United States)

    NIH scientists have discovered a unique feature of a rare, hereditary form of kidney cancer that may provide a better understanding of its progression and metastasis, possibly laying the foundation for the development of new targeted therapies.

  9. Other Rare Unusual Cancers of Childhood

    Science.gov (United States)

    ... patient depends on the type of gene change. Pheochromocytoma and Paraganglioma Pheochromocytoma and paraganglioma are rare tumors that come from the same type of nerve tissue . Pheochromocytoma forms in the adrenal glands . There are two ...

  10. Clinical trial designs for rare diseases: Studies developed and discussed by the International Rare Cancers Initiative

    Science.gov (United States)

    Bogaerts, Jan; Sydes, Matthew R.; Keat, Nicola; McConnell, Andrea; Benson, Al; Ho, Alan; Roth, Arnaud; Fortpied, Catherine; Eng, Cathy; Peckitt, Clare; Coens, Corneel; Pettaway, Curtis; Arnold, Dirk; Hall, Emma; Marshall, Ernie; Sclafani, Francesco; Hatcher, Helen; Earl, Helena; Ray-Coquard, Isabelle; Paul, James; Blay, Jean-Yves; Whelan, Jeremy; Panageas, Kathy; Wheatley, Keith; Harrington, Kevin; Licitra, Lisa; Billingham, Lucinda; Hensley, Martee; McCabe, Martin; Patel, Poulam M.; Carvajal, Richard; Wilson, Richard; Glynne-Jones, Rob; McWilliams, Rob; Leyvraz, Serge; Rao, Sheela; Nicholson, Steve; Filiaci, Virginia; Negrouk, Anastassia; Lacombe, Denis; Dupont, Elisabeth; Pauporté, Iris; Welch, John J.; Law, Kate; Trimble, Ted; Seymour, Matthew

    2015-01-01

    Background The past three decades have seen rapid improvements in the diagnosis and treatment of most cancers and the most important contributor has been research. Progress in rare cancers has been slower, not least because of the challenges of undertaking research. Settings The International Rare Cancers Initiative (IRCI) is a partnership which aims to stimulate and facilitate the development of international clinical trials for patients with rare cancers. It is focused on interventional – usually randomised – clinical trials with the clear goal of improving outcomes for patients. The key challenges are organisational and methodological. A multi-disciplinary workshop to review the methods used in ICRI portfolio trials was held in Amsterdam in September 2013. Other as-yet unrealised methods were also discussed. Results The IRCI trials are each presented to exemplify possible approaches to designing credible trials in rare cancers. Researchers may consider these for use in future trials and understand the choices made for each design. Interpretation Trials can be designed using a wide array of possibilities. There is no ‘one size fits all’ solution. In order to make progress in the rare diseases, decisions to change practice will have to be based on less direct evidence from clinical trials than in more common diseases. PMID:25542058

  11. A Rare Case: Gastric Cancer; Involving Primery Thoracal Vertebral Metastases

    Directory of Open Access Journals (Sweden)

    Harun Arslan

    2013-06-01

    Full Text Available Primery bone metastases rarely occur in gastric cancer. Bone metastases indicate that the prognosis is bad. In that article we present a case that is diagnosed as a gastric cancer with primary bone metasteses that caused pathologic thoracal vertebral fracture seenby computer ised tomography.

  12. Rare Cancers Europe (RCE) methodological recommendations for clinical studies in rare cancers: A European consensus position paper

    NARCIS (Netherlands)

    P.G. Casali (Paolo); P. Bruzzi (P.); J. Bogaerts (Jan); J-Y. Blay (Jean Yves); M. Aapro (Matti); A. Adamous; A. Berruti (Alfredo); J. Bressington; B. Bruzzi; R. Capocaccia (Riccardo); F. Cardoso (Fatima); J.E. Celis; A. Cervantes (Andres); F. Ciardiello; C. Claussen; M. Coleman; S. Comis; S. Craine; D. De Boltz; F. De Lorenzo; A.P. Dei Tos (Angelo); G. Gatta (Gemma); J. Geissler (Jan); R. Giuliani; E. Grande (Enrico); A. Gronchi (Alessandro); S. Jezdic; B. Jonsson; L. Jost; H. Keulen; D. Lacombe (Denis); G. Lamory; Y. Le Cam; S. Leto di Priolo; L. Licitra; F. Macchia; A. Margulies; S. Marreaud (Sandrine); G. McVie; S. Narbutas; K. Oliver; N. Pavlidis; J. Pelouchova; G. Pentheroudakis; M.J. Piccart (Martine); M. Pierotti (Marco Alessandro); G. Pravettoni; K. Redmond; P.H.J. Riegman (Peter); M.P. Ruffilli; D. Ryner; S. Sandrucci; M. Seymour; V. Torri (Valter); A. Trama; S. van Belle (S.); G. Vassal; M. Wartenberg; C. Watts; A. Wilson; W. Yared

    2015-01-01

    textabstractWhile they account for one-fifth of new cancer cases, rare cancers are difficult to study. A higher than average degree of uncertainty should be accommodated for clinical as well as for population-based decision making. Rules of rational decision making in conditions of uncertainty shoul

  13. The value of research collaborations and consortia in rare cancers.

    Science.gov (United States)

    Blay, Jean-Yves; Coindre, Jean-Michel; Ducimetière, Françoise; Ray-Coquard, Isabelle

    2016-02-01

    Rare cancers are defined by an incidence of less than six per 100,000 people per year. They represent roughly 20% of all human cancers and are associated with worse survival than are so-called frequent tumours, because of delays to accurate diagnosis, inadequate treatments, and fewer opportunities to participate in clinical trials (because of a paucity of dedicated trials from both academic and industrial sponsors). In this Series paper, we discuss how these challenges can be addressed by research consortia and suggest the integration of these consortia with reference networks, which gather multidisciplinary expert centres, for management of rare tumours.

  14. Rare and unusual endocrine cancer syndromes with mutated genes.

    Science.gov (United States)

    Lodish, Maya B; Stratakis, Constantine A

    2010-12-01

    The study of a number of rare familial syndromes associated with endocrine tumor development has led to the identification of genes involved in the development of these tumors. Major advances have expanded our understanding of the pathophysiology of these rare endocrine tumors, resulting in the elucidation of causative genes in rare familial diseases and a better understanding of the signaling pathways implicated in endocrine cancers. Recognition of the familial syndrome associated with a particular patient's endocrine tumor has important implications in terms of prognosis, screening of family members, and screening for associated conditions.

  15. The Rare Cancer Network: achievements from 1993 to 2012

    Directory of Open Access Journals (Sweden)

    Ajaykumar Patel

    2012-09-01

    Full Text Available The Rare Cancer Network (RCN, founded in 1993, performs research involving rare tumors that are not common enough to be the focus of prospective study. Over 55 studies have either been completed or are in progress. The aim of the paper is to present an overview of the 30 studies done through the RCN to date, organized by disease site. Five studies focus on breast pathology, including sarcoma, lymphoma, phyllodes tumor, adenoid cystic carcinoma, and ductal carcinoma in situ in young women. Three studies on prostate cancer address prostatic small cell carcinoma and adenocarcinoma of young and elderly patients. Six studies on head and neck cancers include orbital and intraocular lymphoma, mucosal melanoma, pediatric nasopharyngeal carcinoma, olfactory neuroblastoma, and mucosa-associated lymphoid tissue lymphoma of the salivary glands. There were 4 central nervous system studies on patients with cerebellar glioblastoma multiforme, atypical and malignant meningioma, spinal epidural lymphoma and myxopapillary ependymoma. Outside of these disease sites, there is a wide variety of other studies on tumors ranging from uterine leiomyosarcoma to giant cell tumors of the bone. The studies done by the RCN represent a wide range of rare pathologies that were previously only studied in small series or case reports. With further growth of the RCN and collaboration between members our ability to analyze rare tumors will increase and result in better understanding of their behavior and ultimately help direct research that may improve patient outcomes.

  16. Genetic Testing for Rare Cancer: The Wider Issues.

    Science.gov (United States)

    Jacobs, Chris; Pichert, Gabriella

    2016-01-01

    Identification of a potential genetic susceptibility to cancer and confirmation of a pathogenic gene mutation raises a number of challenging issues for the patient with cancer, their relatives and the health professionals caring for them. The specific risks and management issues associated with rare cancer types have been addressed in the earlier chapters. This chapter considers the wider issues involved in genetic counselling and genetic testing for a genetic susceptibility to cancer for patients, families and health professionals. The first part of the chapter will present the issues raised by the current practice in genetic counselling and genetic testing for cancer susceptibility. The second part of the chapter will address some of the issues raised by the advances in genetic testing technology and the future opportunities provided by personalised medicine and targeted cancer therapy. Facilitating these developments requires closer integration of genomics into mainstream cancer care, challenging the existing paradigm of genetic medicine, adding additional layers of complexity to the risk assessment and management of cancer and presenting wider issues for patients, families, health professionals and clinical services.

  17. The Rare Cancer Network: ongoing studies and future strategy

    Directory of Open Access Journals (Sweden)

    Mahmut Ozsahin

    2014-08-01

    Full Text Available The Rare Cancer Network (RCN was formed in the early 1990’s to create a global network that could pool knowledge and resources in the studies of rare malignancies whose infrequency prevented both their study with prospective clinical trials. To date, the RCN has initiated 74 studies resulting in 46 peer reviewed publications. The First International Symposium of the Rare Cancer Network took place in Nice in March of 2014. Status updates and proposals for new studies were heard for fifteen topics. Ongoing studies continue for cardiac sarcomas, thyroid cancers, glomus tumors, and adult medulloblastomas. New proposals were presented at the symposium for primary hepatic lymphoma, solitary fibrous tumors, Rosai-Dorfman disease, tumors of the ampulla of Vater, salivary gland tumors, anorectal melanoma, midline nuclear protein in testes carcinoma, pulmonary lymphoepithelioma-like carcinoma, adenoid cystic carcinoma of the trachea, osteosarcomas of the mandible, and extra-cranial hemangiopericytoma. This manuscript presents the abstracts of those proposals and updates on ongoing studies, as well a brief summary of the vision and future of the RCN.

  18. The contribution of rare variation to prostate cancer heritability.

    Science.gov (United States)

    Mancuso, Nicholas; Rohland, Nadin; Rand, Kristin A; Tandon, Arti; Allen, Alexander; Quinque, Dominique; Mallick, Swapan; Li, Heng; Stram, Alex; Sheng, Xin; Kote-Jarai, Zsofia; Easton, Douglas F; Eeles, Rosalind A; Le Marchand, Loic; Lubwama, Alex; Stram, Daniel; Watya, Stephen; Conti, David V; Henderson, Brian; Haiman, Christopher A; Pasaniuc, Bogdan; Reich, David

    2016-01-01

    We report targeted sequencing of 63 known prostate cancer risk regions in a multi-ancestry study of 9,237 men and use the data to explore the contribution of low-frequency variation to disease risk. We show that SNPs with minor allele frequencies (MAFs) of 0.1-1% explain a substantial fraction of prostate cancer risk in men of African ancestry. We estimate that these SNPs account for 0.12 (standard error (s.e.) = 0.05) of variance in risk (∼42% of the variance contributed by SNPs with MAF of 0.1-50%). This contribution is much larger than the fraction of neutral variation due to SNPs in this class, implying that natural selection has driven down the frequency of many prostate cancer risk alleles; we estimate the coupling between selection and allelic effects at 0.48 (95% confidence interval [0.19, 0.78]) under the Eyre-Walker model. Our results indicate that rare variants make a disproportionate contribution to genetic risk for prostate cancer and suggest the possibility that rare variants may also have an outsize effect on other common traits.

  19. Functional annotation of rare gene aberration drivers of pancreatic cancer | Office of Cancer Genomics

    Science.gov (United States)

    As we enter the era of precision medicine, characterization of cancer genomes will directly influence therapeutic decisions in the clinic. Here we describe a platform enabling functionalization of rare gene mutations through their high-throughput construction, molecular barcoding and delivery to cancer models for in vivo tumour driver screens. We apply these technologies to identify oncogenic drivers of pancreatic ductal adenocarcinoma (PDAC).

  20. Research methods to change clinical practice for patients with rare cancers.

    Science.gov (United States)

    Billingham, Lucinda; Malottki, Kinga; Steven, Neil

    2016-02-01

    Rare cancers are a growing group as a result of reclassification of common cancers by molecular markers. There is therefore an increasing need to identify methods to assess interventions that are sufficiently robust to potentially affect clinical practice in this setting. Methods advocated for clinical trials in rare diseases are not necessarily applicable in rare cancers. This Series paper describes research methods that are relevant for rare cancers in relation to the range of incidence levels. Strategies that maximise recruitment, minimise sample size, or maximise the usefulness of the evidence could enable the application of conventional clinical trial design to rare cancer populations. Alternative designs that address specific challenges for rare cancers with the aim of potentially changing clinical practice include Bayesian designs, uncontrolled n-of-1 trials, and umbrella and basket trials. Pragmatic solutions must be sought to enable some level of evidence-based health care for patients with rare cancers.

  1. History of the Rare Cancer Network and past research

    Directory of Open Access Journals (Sweden)

    René-Olivier Mirimanoff

    2014-08-01

    Full Text Available Approximately, twenty years ago, the Rare Cancer Network (RCN was formed in Lausanne, Switzerland, to support the study of rare malignancies. The RCN has grown over the years and now includes 130 investigators from twenty-four nations on six continents. The network held its first international symposium in Nice, France, on March 21-22, 2014. The proceedings of that meeting are presented in two companion papers. This manuscript reviews the history of the growth of the RCN and contains the abstracts of fourteen oral presentations made at the meeting of prior RCN studies. From 1993 to 2014, 74 RCN studies have been initiated, of which 54 were completed, 10 are in progress or under analysis, and 9 were stopped due to poor accrual. Forty-four peer reviewed publications have been written on behalf of the RCN.

  2. [Isolated splenic metastases from cervical cancer: a rare entity].

    Science.gov (United States)

    Villalón-López, José Sebastián; Souto-del Bosque, Rosalía; Montañez-Lugo, Juan Ignacio; Chávez-González, Bruno

    2014-01-01

    Splenic metastases from solid tumors are a rare event with an incidence of only 2.9% to 9%. Splenic metastases from cervical cancer are a rare entity. Only a few cases have been reported of isolated spleen metastases from cervical cancer. We present the case of a 76-year-old woman with moderately differentiated endocervical adenocarcinoma stromal and endocervical invasion. Clinical stage was Ib1 and Ca-125 values of 150 U. She was managed with hysterectomy and pelvic lymphadenectomy. She received pelvic radiotherapy (45 Gy) followed 24 Gy of brachytherapy. Two years later she presented with abdominal pain. Abdominal computed tomography showed two splenic parenchymal lesions without disease in the remainder of the abdominal cavity and chest with a Ca-125 of 2,733 U. The patient is submitted to splenectomy. Histopathology demonstrates splenic metastases of well-differentiated adenocarcinoma from the endocervix. Immunohistochemical stain showed positivity from carcinoembryonic antigen; estrogen and progesterone receptors are negative. Ca-125 level 8 weeks after surgery was 16 U/ml. The patient received six cycles of adjuvant chemotherapy with paclitaxel and cisplatin. At 12 months follow-up the patient is alive and without evidence of tumor activity. The spleen is an uncommon site of metastasis. Splenectomy is considered the appropriate treatment in order to avoid complications such as splenic rupture and splenic vein thrombosis as well as to improve pain control from splenomegaly. Twelve months after surgery our patient is alive and without evidence of tumor activity.

  3. Occult male breast cancer with axillary metastasis: A rare case report

    Directory of Open Access Journals (Sweden)

    Komal Sawaimul

    2015-01-01

    Full Text Available Breast cancer is very rare in men. It accounts for 0.2% of all cancers and 1% of all breast cancers. The occurrence of occult breast cancer that present as axillary metastasis as the first manifestation is even rarer in men. We are hereby presenting an extremely rare case of a septuagenarian male patient who presented with occult breast cancer and axillary lymph node metastasis.

  4. Surgery for rare aneurysm associated with colorectal cancer

    Institute of Scientific and Technical Information of China (English)

    Pei-Hua Lu; Guo-Qing Tao; Wei Shen; Bin Cai; Zhi-Yang Jiang; Jian Sun

    2009-01-01

    The occurrence of concomitant aortic aneurysm and colorectal cancer is a rare medical entity, and controversy surrounds its optimal treatment. We report a case of rectal cancer and concomitant aneurysm from the ascending aorta to the common iliac artery. As with DeBakey type Ⅰ aortic dissecting aneurysm, our patient was treated by rectal cancer resection, with preservation of the anus (Dixon operation) under controlled hypotension. Blood pressure was maintained at 80-90/ 50-60 mmHg and the pulse at 70-90 beats/min. The pathological examination of the surgical specimen showed a poorly differentiated T3N0 tumor. The patient had an uneventful recovery without aneurysm rupture, and was discharged from hospital on postoperative day 15 after 3 d adjuvant chemotherapy with oxaliplatin combined with calcium folinate and fluorouracil. The patient was given six courses of adjuvant chemotherapy in 6 mo, without recurrence or metastasis, and the aneurysm was still stable after 2 years follow-up.

  5. cDNA Clones with Rare and Recurrent Mutations Found in Cancers | Office of Cancer Genomics

    Science.gov (United States)

    The CTD2 Center at UT- MD Anderson Cancer Center has developed High-Throughput Mutagenesis and Molecular Barcoding (HiTMMoB)1,2 pipeline to construct mutant alleles open reading frame expression clones that are either recurrent or rare in cancers. These barcoded genes can be used for context-specific functional validation, detection of novel biomarkers (pathway activation) and targets (drug sensitivity).

  6. Primary hepatic lymphoma: a retrospective, multicenter Rare Cancer Network study

    Directory of Open Access Journals (Sweden)

    Gamze Ugurluer

    2016-10-01

    Full Text Available Primary hepatic lymphoma (PHL is a rare malignancy. We aimed to assess the clinical profile, outcome and prognostic factors in PHL through the Rare Cancer Network (RCN. A retrospective analysis of 41 patients was performed. Median age was 62 years (range, 23- 86 years with a male-to-female ratio of 1.9:1.0. Abdominal pain or discomfort was the most common presenting symptom. Regarding B-symptoms, 19.5% of patients had fever, 17.1% weight loss, and 9.8% night sweats. The most common radiological presentation was multiple lesions. Liver function tests were elevated in 56.1% of patients. The most common histopathological diagnosis was diffuse large B-cell lymphoma (65.9%. Most of the patients received Chop-like (cyclophosphamide, doxorubicin, vincristine, and prednisone regimens; 4 patients received radiotherapy (dose range, 30.6-40.0 Gy. Median survival was 163 months, and 5- and 10-year overall survival rates were 77 and 59%, respectively. The 5- and 10-year disease-free and lymphoma-specific survival rates were 69, 56, 87 and 70%, respectively. Multivariate analysis revealed that fever, weight loss, and normal hemoglobin level were the independent factors influencing the outcome. In this retrospective multicenter RCN study, patients with PHL had a relatively better prognosis than that reported elsewhere. Multicenter prospective studies are still warranted to establish treatment guidelines, outcome, and prognostic factors.

  7. Primary Hepatic Lymphoma: A Retrospective, Multicenter Rare Cancer Network Study

    Science.gov (United States)

    Ugurluer, Gamze; Miller, Robert C.; Li, Yexiong; Thariat, Juliette; Ghadjar, Pirus; Schick, Ulrike; Ozsahin, Mahmut

    2016-01-01

    Primary hepatic lymphoma (PHL) is a rare malignancy. We aimed to assess the clinical profile, outcome and prognostic factors in PHL through the Rare Cancer Network (RCN). A retrospective analysis of 41 patients was performed. Median age was 62 years (range, 23-86 years) with a male-to-female ratio of 1.9:1.0. Abdominal pain or discomfort was the most common presenting symptom. Regarding B-symptoms, 19.5% of patients had fever, 17.1% weight loss, and 9.8% night sweats. The most common radiological presentation was multiple lesions. Liver function tests were elevated in 56.1% of patients. The most common histopathological diagnosis was diffuse large B-cell lymphoma (65.9%). Most of the patients received Chop-like (cyclophosphamide, doxorubicin, vincristine, and prednisone) regimens; 4 patients received radiotherapy (dose range, 30.6-40.0 Gy). Median survival was 163 months, and 5- and 10-year overall survival rates were 77 and 59%, respectively. The 5- and 10-year disease-free and lymphoma-specific survival rates were 69, 56, 87 and 70%, respectively. Multivariate analysis revealed that fever, weight loss, and normal hemoglobin level were the independent factors influencing the outcome. In this retrospective multicenter RCN study, patients with PHL had a relatively better prognosis than that reported elsewhere. Multicenter prospective studies are still warranted to establish treatment guidelines, outcome, and prognostic factors. PMID:27746888

  8. Objective assessment of cancer biomarkers using semi-rare event detection.

    NARCIS (Netherlands)

    Laak, J.A.W.M. van der; Siebers, A.G.; Aalders, S.A.; Grefte, J.M.M.; Wilde, P.C.M. de; Bulten, J.

    2007-01-01

    Objective and reproducible assessment of cancer biomarkers may be performed using rare event detection systems. Because many biomarkers are not true 'rare events', in this study a semi-rare event detection system was developed. The system is capable of assigning a discriminant score to detected

  9. Increased Risk of Rare Cancer as DES Daughters Age

    Science.gov (United States)

    ... Kidney Leukemia Liver Lung Lymphoma Myeloma Ovarian Prostate Skin Thyroid Uterine Vaginal and Vulvar How to Prevent Cancer or Find It Early Screening Tests Vaccines (Shots) Healthy Choices Data and Statistics For Different Kinds of Cancer Cancer Rates by ...

  10. Breast cancer as second malignant neoplasm after acute myeloid leukemia: A rare occurrence

    Directory of Open Access Journals (Sweden)

    Govind Babu

    2016-01-01

    Full Text Available Cancer survivors after successful treatment of hematological and lymphoid malignancies are at an increased risk for second malignant neoplasms. As the overall survival has increased in these cancers, solid tumors are emerging as a serious long-term complication. In this article, we describe such a rare occurrence, in literature, of breast cancer after the treatment of acute myeloid leukemia.

  11. Mucosal Kaposi sarcoma, a Rare Cancer Network study

    Directory of Open Access Journals (Sweden)

    Robert C. Miller

    2012-10-01

    Full Text Available Kaposi’s sarcoma (KS most often affect the skin but occasionally affect the mucosa of different anatomic sites. The management of mucosal KS is seldom described in the literature. Data from 15 eligible patients with mucosal KS treated between 1994 and 2008 in five institutions within three countries of the Rare Cancer Network group were collected. The inclusion criteria were as follows: age >16 years, confirmed pathological diagnosis, mucosal stages I and II, and a minimum of 6 months’ follow-up after treatment. Head and neck sites were the most common (66%. Eleven cases were HIV-positive. CD4 counts correlated with disease stage. Twelve patients had biopsy only while three patients underwent local resection. Radiotherapy (RT was delivered whatever their CD4 status was. Median total radiation dose was 16.2 Gy (0-45 delivered in median 17 days (0-40 with four patients receiving no RT. Six patients underwent chemotherapy and received from 1 to 11 cycles of various regimens namely vinblastin, caelyx, bleomycine, or interferon, whatever their CD4 counts was. Five-year disease free survival were 81.6% and 75.0% in patients undergoing RT or not, respectively. Median survival was 66.9 months. Radiation-induced toxicity was at worse grade 1-2 and was manageable whatever patients’ HIV status. This small series of mucosal KSs revealed that relatively low-dose RT is overall safe and efficient in HIV-positive and negative patients. Since there are distant relapses either in multicentric cutaneous or visceral forms in head and neck cases, the role of systemic treatments may be worth investigations in addition to RT of localized disease. Surgery may be used for symptomatic lesions, with caution given the risk of bleeding.

  12. Isolation of rare cancer cells from blood cells using dielectrophoresis.

    Science.gov (United States)

    Salmanzadeh, Alireza; Sano, Michael B; Shafiee, Hadi; Stremler, Mark A; Davalos, Rafael V

    2012-01-01

    In this study, we investigate the application of contactless dielectrophoresis (cDEP) for isolating cancer cells from blood cells. Devices with throughput of 0.2 mL/hr (equivalent to sorting 3×10(6) cells per minute) were used to trap breast cancer cells while allowing blood cells through. We have shown that this technique is able to isolate cancer cells in concentration as low as 1 cancer cell per 10(6) hematologic cells (equivalent to 1000 cancer cells in 1 mL of blood). We achieved 96% trapping of the cancer cells at 600 kHz and 300 V(RMS).

  13. Idiopathic calcification of the seminal vesicles: a rare cause for prostate cancer overstaging.

    Science.gov (United States)

    Pannek, J; Senge, T

    2001-01-01

    Calcification of the seminal vesicles is a rare phenomenon. We present 2 cases in whom calcification of the seminal vesicles led to preoperative overstaging of prostate cancer. Although idiopathic calcifications are extremely rare, calcifications appear more frequently in diabetic patients. Therefore, knowledge of these formations is essential to prevent overstaging, namely infiltration of the seminal vesicles.

  14. Targeted Therapy Shows Benefit in Rare Type of Thyroid Cancer

    Science.gov (United States)

    Treatment with the multitargeted agent vandetanib (Caprelsa) improved progression-free survival in patients with medullary thyroid cancer (MTC), according to findings from a randomized clinical trial.

  15. PALB2, CHEK2 and ATM rare variants and cancer risk

    DEFF Research Database (Denmark)

    Southey, Melissa C; Goldgar, David E; Winqvist, Robert

    2016-01-01

    BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BR...

  16. Paraneoplastic hyperinsulinism and secondary hypoglycaemia in a patient with advanced colon cancer: A rare association

    Institute of Scientific and Technical Information of China (English)

    Roberto Díaz; Jorge Aparicio; Andrea Mendizóbal; Marisa Faus; Tania Fleitas; Francisco Aparisi; Maria Martín

    2008-01-01

    We review the case of a 74-year-old patient with advanced colon cancer who suffered recurrent bouts of hypoglycemia. A state of inappropriate, non-suppressed hyperinsulinism in the presence of severe hypoglycemia was diagnosed. We finally discuss the known mechanisms behind fasting hypoglycemia in patients with advanced cancer, the diagnosis, and possible treatments of this rare paraneoplastic endocrine complication.

  17. Cervical Cancer as a silent killer: A rare case report with review of literature

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    Deeksha Pandey

    2015-01-01

    Full Text Available Advanced-stage cervical cancer almost always presents either with abnormal vaginal bleeding or with foul-smelling vaginal discharge. We present here a rare case, where a postmenopausal lady presented almost silently with stage IVA cervical cancer. Fortunately, timely referral, correct diagnosis, and multispecialty team work could save her life.

  18. A rare case of ascending colon actinomycosis mimicking cancer

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    Zizi Diamanto

    2005-01-01

    Full Text Available Abstract Background Actinomycosis is a rare inflammatory disease caused by an anaerobic bacterium that can rarely affect the large intestine. Case presentation We present a rare case of a cecum and ascending colon actinomycosis in a 72 years old woman, mimicking clinically a malignant inflammatory tumor of the right colon. The patient complained of right lower quadrant pain. Although our first thought was a peri-appendiceal abscess, CT scan suggested a right colon tumor. The patient underwent a right colectomy and the histological examination of the specimen revealed colon actinomycosis. Conclusions Preoperative diagnosis in colon actinomycosis is difficult to achieve. Treatment of choice is antibiotics administration. A review of the possible pathogenesis and therapeutic modalities is also presented.

  19. Hypomanic episode during recurrent gastric cancer treatment: report of a rare case and literature review.

    Science.gov (United States)

    Matsunaga, Mototsugu; Onishi, Hideki; Ishida, Mayumi; Miwa, Keisuke; Araki, Kazuhiro; Kaneta, Toshikado; Sunakawa, Yu; Nakayama, Hirofumi; Shimada, Ken; Noguchi, Tsuyoshi; Narabayashi, Masaru; Sasaki, Yasutsuna

    2012-10-01

    S-1 plus cisplatin is the standard chemotherapy for recurrent gastric cancer. While depression and delirium are frequent in cancer patients, hypomania during chemotherapy is rare. We describe a rare case of hypomania during S-1 plus cisplatin treatment for recurrent gastric cancer. A 66-year-old woman, with no previous psychiatric disorder, received S-1 plus cisplatin for recurrent gastric cancer. She showed peculiar behavior. Physical examination, urine, blood and imaging findings were normal. There was no gastric cancer progression. During psychiatric consultation, she behaved inappropriately. However, she behaved normally while performing daily activities. She manifested a persistently elevated, expansive or irritable mood, clearly different from her usual non-depressed state, meeting hypomania diagnostic criteria. Her condition did not require chemotherapy discontinuation or additional medication. During the second and subsequent S-1 plus cisplatin cycles, symptoms were stable. Cancer patients often have adjustment disorders, depression and delirium, but rarely hypomania. Our patient showed no significant changes in blood biochemistry and brain and whole body imaging. While S-1 plus cisplatin-induced hypomania cannot be excluded, hypomanic symptoms did not improve during the chemotherapy rest period, nor was there deterioration during subsequent cycles, suggesting drug-induced mania to be unlikely. Possible onset mechanisms include manic defense phenomena, common with stressful life events. There are no reports of recurrent gastric cancer patients experiencing hypomania during S-1 or S-1 plus cisplatin therapy, i.e. our patient represents a rare course. Clinicians should recognize psychosis or mood disorders during gastric cancer treatment. Further accumulation of such rare cases might elucidate pathological mechanisms underlying hypomania in cancer patients.

  20. Rare ATAD5 missense variants in breast and ovarian cancer patients.

    Science.gov (United States)

    Maleva Kostovska, Ivana; Wang, Jing; Bogdanova, Natalia; Schürmann, Peter; Bhuju, Sabin; Geffers, Robert; Dürst, Matthias; Liebrich, Clemens; Klapdor, Rüdiger; Christiansen, Hans; Park-Simon, Tjoung-Won; Hillemanns, Peter; Plaseska-Karanfilska, Dijana; Dörk, Thilo

    2016-06-28

    ATAD5/ELG1 is a protein crucially involved in replication and maintenance of genome stability. ATAD5 has recently been identified as a genomic risk locus for both breast and ovarian cancer through genome-wide association studies. We aimed to investigate the spectrum of coding ATAD5 germ-line mutations in hospital-based series of patients with triple-negative breast cancer or serous ovarian cancer compared with healthy controls. The ATAD5 coding and adjacent splice site regions were analyzed by targeted next-generation sequencing of DNA samples from 273 cancer patients, including 114 patients with triple-negative breast cancer and 159 patients with serous epithelial ovarian cancer, and from 276 healthy females. Among 42 different variants identified, twenty-two were rare missense substitutions, of which 14 were classified as pathogenic by at least one in silico prediction tool. Three of four novel missense substitutions (p.S354I, p.H974R and p.K1466N) were predicted to be pathogenic and were all identified in ovarian cancer patients. Overall, rare missense variants with predicted pathogenicity tended to be enriched in ovarian cancer patients (14/159) versus controls (11/276) (p = 0.05, 2df). While truncating germ-line variants in ATAD5 were not detected, it remains possible that several rare missense variants contribute to genetic susceptibility toward epithelial ovarian carcinomas.

  1. Study of severe and rare complications of transarterial chemoembolization (TACE) for liver cancer

    Energy Technology Data Exchange (ETDEWEB)

    Xia Jinglin [Liver Cancer Institute, Zhongshan Hospital, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032 (China)]. E-mail: jlxia@zshospital.net; Ren Zhenggang; Ye Shenglong; Sharma Dilip; Lin Zhiying; Gan Yuhong; Chen Yi; Ge Ninglin; Ma Zengchen; Wu Zhiquan; Fan Jia; Qin Lunxiu; Zhou Xinda; Tang Zhaoyou; Yang Binghui [Liver Cancer Institute, Zhongshan Hospital, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032 (China)

    2006-09-15

    Objective: To study severe and rare complications of transarterial chemoembolization (TACE) for liver cancer. Methods: Clinical records of severe and rare complications following TACE in 1348 cases of liver cancer from January 1997 to February 2004 were studied retrospectively. Results: A total of 2012 TACE procedures were performed for 1348 patients. There were 3 cases of spontaneous rupture of liver cancer, 1 case of perforation of duodenum, 3 cases of liver abscess (1 of them was associated with sepsis), 1 case of pulmonary embolism, 1 case of spasm of the hepatic artery, 40 cases of hepatic artery occlusion, 3 cases of femoral nerve injury, 1 case of bilioma and 1 case of acute renal failure. Conclusion: Although the severe complications of TACE are rare, the procedure should be done cautiously including super selection of hepatic artery, slow infusion of lipiodol, careful postoperative observations and early detection and management of complications.

  2. A rare bladder cancer - small cell carcinoma: review and update

    Directory of Open Access Journals (Sweden)

    Ismaili Nabil

    2011-11-01

    Full Text Available Abstract Small cell carcinoma of the bladder (SCCB is rare, highly aggressive and diagnosed mainly at advanced stages. Hematuria is the main symptom of this malignancy. The origin of the disease is unknown; however the multipotent stem cell theory applies best to this case. Histology and immunohistochemistry shows a tumour which is indistinguishable from small cell lung carcinoma (SCLC. Coexistence of SCCB with other types of carcinoma is common. The staging system used is the TNM-staging of bladder transitional cell carcinoma. The treatment is extrapolated from that of SCLC. However, many patients with SCCB undergo radical resection which is rarely performed in SCLC. Patients with surgically resectable disease ( or = cT4bN+M+ should be managed with palliative chemotherapy based on neuroendocrine type regimens comprising a platinum drug (cisplatin in fit patients. The prognosis of the disease is poor mainly in the case of pure small cell carcinoma. Other research programs are needed to improve the outcome of SCCB.

  3. Axillary skin malignancy: a rare breast cancer presentation.

    Science.gov (United States)

    Miranda, Benjamin H; Malahias, Marco; El-Said, Tarek F A; Fahmy, Fahmy S

    2014-05-01

    A rise in incidence and decrease in mortality rates from breast cancer have lead to an increase in prevalence within developed countries. Presentation is classically with a palpable breast tissue mass that may metastasize to bone, lung, liver, brain, lymph nodes, and skin. We describe a delayed diagnosis, in an 80-year-old female patient, where, on 2 occasions, the primary initial presentation was with a cutaneous squamous cell carcinoma in the right axilla. It was not until the third referral, with an ipsilateral breast lump, that breast cancer was clinically diagnosed. This was histologically identified as the primary malignancy, most likely in-keeping with squamous cell carcinoma of the breast. This unique atypical presentation represents a diagnostic challenge and highlights a clinically relevant learning point that may avoid subsequent diagnostic delay. Cutaneous axillary lesions should be treated with a high index of suspicion, necessitating the requirement for chest examination because of the possible presence of an associated primary breast carcinoma.

  4. Palliative Surgery for Rare Cases of Anterior Urethral Metastasis in Prostate Cancer

    Directory of Open Access Journals (Sweden)

    Enrique Gómez Gómez

    2014-01-01

    Full Text Available Penis metastasis from prostate cancer is very rare, and its management varies from case to case as there are very few cases reported in the literature. We describe a patient with prostate cancer treated with radiotherapy and androgen deprivation therapy who presented with urethral bleeding as a symptom of anterior urethral metastasis during followup. We propose a way to manage this and review the literature.

  5. Palliative Surgery for Rare Cases of Anterior Urethral Metastasis in Prostate Cancer

    Science.gov (United States)

    Gómez Gómez, Enrique; Carrasco Aznar, Jose Carlos; Moreno Rodríguez, Maria del Mar; Valero Rosa, José; Requena Tapia, Maria José

    2014-01-01

    Penis metastasis from prostate cancer is very rare, and its management varies from case to case as there are very few cases reported in the literature. We describe a patient with prostate cancer treated with radiotherapy and androgen deprivation therapy who presented with urethral bleeding as a symptom of anterior urethral metastasis during followup. We propose a way to manage this and review the literature. PMID:25161796

  6. Bilateral Adrenal Incidentalomas: A Rare Presentation of Lung Cancer

    Directory of Open Access Journals (Sweden)

    Halit Diri

    2015-01-01

    Full Text Available Adrenal incidentalomas are found incidentally during a radiologic examination performed for indications other than an adrenal disease, and 15% of them are bilateral adrenal masses. This study describes a 51-year-old male smoker patient admitted with diabetes mellitus. An abdominal ultrasonography performed due to his anemia revealed bilateral adrenal masses. His chest X-ray showed abnormal 10 cm opacity at the right upper lung, and brain, thorax, and abdomen CT scans showed multiple lesions compatible with lung cancer metastases. The pathological examination of the transthoracic lung biopsy specimen was consistent with lung adenocarcinoma. Findings in this patient indicate that, in middle aged patients with bilateral adrenal mass and a history or finding of any malignancy, the first diagnosis which should be considered is adrenal metastasis, and confirming the diagnosis by adrenal biopsy may be useless. Furthermore, screening all smoking patients by chest X-ray or thoracic CT for lung cancer may not be accepted as a routine procedure, but in smokers admitted to a hospital due to signs and symptoms attributed to a pulmonary disease, at least a chest X-ray should be requested.

  7. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis.

    Science.gov (United States)

    Gueutin, Victor; Langlois, Anne-Lyse; Shehwaro, Nathalie; Elharraqui, Ryme; Rouvier, Philippe; Izzedine, Hassane

    2013-01-01

    Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported.

  8. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis

    Directory of Open Access Journals (Sweden)

    Victor Gueutin

    2013-01-01

    Full Text Available Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported.

  9. Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility

    NARCIS (Netherlands)

    Litchfield, Kevin; Levy, Max; Dudakia, Darshna; Proszek, Paula; Shipley, Claire; Basten, Sander; Rapley, Elizabeth; Bishop, D Timothy; Reid, Alison; Huddart, Robert; Broderick, Peter; Castro, David Gonzalez de; O'Connor, Simon; Giles, Rachel H; Houlston, Richard S; Turnbull, Clare

    2016-01-01

    Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases and 1,644 controls. We search for genes that are recurrently affected by rare

  10. Synchronous triple primary lung cancer: A rare case with radiologic pathologic correction

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Joo Hee; Lee, Sung Soo; Park, Heae Surng; Park, Chul Hwan; Kim, Tae Hoon [Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2015-10-15

    Synchronous multiple primary lung cancer is uncommon. They present at the same time, but are distinct and have different histologic features. Synchronous triple primary lung cancer is rare and only few cases have been reported previously. We described a case of synchronous triple primary lung cancers in an asymptomatic 64-year-old man that showed different radiologic features of lung tumors on chest computed tomography images. Anatomical resection and histological analysis revealed 3 different types of lung carcinoma with radiologic-pathologic correlation.

  11. EML4-ALK Fusion Lung Cancer: A Rare Acquired Event

    Directory of Open Access Journals (Sweden)

    Sven Perner

    2008-03-01

    Full Text Available A recurrent gene fusion between EML4 and ALK in 6.7% of non-small cell lung cancers (NSCLCs and NKX2-1 (TTF1, TITF1 high-level amplifications in 12% of adenocarcinomas of the lung were independently reported recently. Because the EML4-ALK fusion was only shown by a reverse transcription-polymerase chain reaction approach, we developed fluorescent in situ hybridization assays to interrogate more than 600 NSCLCs using break-apart probes for EML4 and ALK. We found that EML4-ALK fusions occur in less than 3% of NSCLC samples and that EML4 and/or ALK amplifications also occur. We also observed that, in most cases in which an EML4/ALK alteration is detected, not all of the tumor cells harbor the lesion. By using a detailed multi-fluorescent in situ hybridization probe assay and reverse transcription-polymerase chain reaction, we have evidence that other, more common mechanisms besides gene inversion exist including the possibility of other fusion partners for ALK and EML4. Furthermore, we confirmed the NKX2-1 high-level amplification in a significant subset of NSCLC and found this amplification to be mutually exclusive to ALK and EML4 rearrangements.

  12. Rare earth fluorescent nanoparticles for specific cancer cell targeting

    Science.gov (United States)

    Stefanakis, Dimitrios; Ghanotakis, Demetrios F.

    2016-07-01

    Terbium layered hydroxide nanoparticles (Tb2(OH)5NO3) were synthesized by a one-pot coprecipitation method. The characterization of this preparation revealed highly oriented fluorescent nanoparticles. An attempt to improve the properties of Tb2(OH)5NO3 resulted in the preparation of two optimized nanoparticles. In particular, Tb2(OH)5NO3:Eu and Tb2(OH)5NO3-FA were prepared when Tb2(OH)5NO3 was doped with Europium and when the surface was modified with folic acid (FA), respectively. The size of the above nanoparticles was below 100 nm, and thus they have the potential to be used for biomedical applications. The interaction of nanoparticles with human cells was studied using confocal microscopy. This study revealed that only the nanoparticles modified with folic acid have the ability to be targeted to HeLa cells. This specific identification of cancer cells, in combination with the fluorescent properties of Tb2(OH)5NO3, could render these nanoparticles appropriate for biomedical applications.

  13. Ovarian Metastasis from Lung Cancer: A Rare Entity

    Directory of Open Access Journals (Sweden)

    Huseyin Cengiz

    2013-01-01

    Full Text Available This paper describes a case of ovarian metastasis from lung carcinoma along with its diagnostic challenges, clinical management, and review of the literature. A 49-year-old woman was admitted to our emergency department with complaints of abdominal pain and vomiting. A laparoscopic appendectomy was performed due to acute appendicitis, and a unilateral oophorectomy (left side via laparoscopy was performed due to the detection of an ovarian mass. Immunohistochemical staining of the ovarian mass revealed that it was reactive to cytokeratin-7 (CK-7 but negative for CK-20. The immunohistochemical and pathological features of the tumor indicated an ovarian metastasis of non-small-cell lung cancer. The patient underwent chemotherapy and was followed up by the oncology department. Her postoperative regular followup of 6 months showed that her condition was stable with no recurrence. The management of female patients with acute abdominal pain and pelvic masses should consist of a multidisciplinary approach to include the diagnosis of any distant organ metastasis.

  14. Cervical Lymph Node Metastasis as the Primary Presentation of Prostatic Cancer: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Bita Geramizadeh

    2014-10-01

    Full Text Available Cervical and supraclavicular lymph nodes metastases generally arise from carcinomas of the head and neck. Metastases to cervical lymph nodes from the prostate are very rare. The common site for lymph node metastasis from the prostate is infradiaphrag- matic. Herein, we report a 69 year-old male who presented with cervical lymph node enlargement in the setting of prostate cancer. This type of presentation although rare, may warrant investigating the prostate as a source of metastasis in cases where the head and neck are free from carcinoma.

  15. A very rare case of breast cancer in a female-to-male transsexual.

    Science.gov (United States)

    Katayama, Yuko; Motoki, Takayuki; Watanabe, Satoko; Miho, Saiga; Kimata, Yoshihiro; Matsuoka, Junji; Doihara, Hiroyoshi; Nanba, Yuzaburo

    2016-11-01

    The incidence of breast cancer in female-to-male (FTM) transsexuals who received mastectomy and sex reassignment surgery is very rare. In fact, there is only one previous medical report of such a case. We experienced a case of an FTM transsexual who developed breast cancer 12 years after mastectomy and hysterectomy with bilateral salpingo-oophorectomy. Because he had been continuously receiving testosterone during the last 15 years and because histopathological examination revealed positive estrogen receptor and androgen receptor expression, we suggest that exogenous testosterone may have initiated the development of breast cancer via two distinct pathways. We describe the clinical course and condition of the patient and recommend that medical personnel consider the possibility of hormone-related cancer in FTM transsexuals receiving cross-sex hormones.

  16. The Suppression Effect of Light Rare Earth Elements on Proliferation of Two Cancer Cell Lines

    Institute of Scientific and Technical Information of China (English)

    JIYUN-JING; XIAOBAI; 等

    2000-01-01

    To study the suppression effect of light rare earth elements(RE) on proliferation of two cancer cell lines.Two cancer cell lines PAMC82 and K562 were used to examine their colony-forming ability in soft agar,microtubule structure,calmodulin levels and regulation of smoe gene expressions y Northern blot analysis with and without treatment by RE.The results showed that on soft agar culture the colony-forming ability of human gastric cancer cell line PAMC82 treated by RE chloride decreased and the PAMC82 cell microtubule abnormal structure became normal.The calmodulin (CaM) levels decreased in human leukemia cells(k562) treated with cerium chloride and neodymium chloride.The Northern blot analysis revealed marked up-regulation of p53,p16(MTS1),p21(WAF1) gene expressions in PAMC82 cells treated with lanthanum chloride and cerium chloride,as compared to control PAMC82 cells,The light rare earth elements studied have certain suppression effects on proliferation of cancer cells,This effect might be realted to the decrease of calmodulin and up-regulationg of smoe gene expressions in cancer cells.

  17. The Suppression Effect of Light Rare Earth Elements on Proliferation of Two Cancer Cell Lines

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    To study the suppression effect of light rare earth elements (RE) on proliferation of two cancer cell lines. Two cancer cell lines PAMC82 and K562 were used to examine their colony-forming ability in soft agar, microtubule structure, calmodulin levels and regulation of some gene expressions by Northern blot analysis with and without treatment by RE. The results showed that on soft agar culture the colony-forming ability of human gastric cancer cell line PAMC82 treated by RE chloride decreased and the PAMC82 cell microtubule abnormal structure became normal. The calmodulin (CaM) levels decreased in human leukemia cells (K562) treated with cerium chloride and neodymium chloride. The Northern blot analysis revealed marked up-regulation of p53, p16(MTS1), p21(WAF1) gene expressions in PAMC82 cells treated with lanthanum chloride and cerium chloride, as compared to control PAMC82 cells. The light rare earth elements studied have certain suppression effects on proliferation of cancer cells. This effect might be related to the decrease of calmodulin and up-regulation of some gene expressions in cancer cells.

  18. Paraneoplastic stiff person syndrome: Inpatient rehabilitation outcomes of a rare disease from two cancer rehabilitation programmes.

    Science.gov (United States)

    Smith, Sean Robinson; Fu, Jack B

    2016-07-18

    Paraneoplastic stiff person syndrome is a rare, but debilitating, manifestation of cancer, characterized by painful extremities, truncal and facial spasms. The resultant functional impairment may necessitate comprehensive rehabilitation and symptom management. This case series describes the acute inpatient rehabilitation courses of 2 patients at different tertiary care referral cancer rehabilitation programmes, including work-up and diagnosis, medical management of symptoms, and functional outcomes. Both patients had a reduction in symptom burden and an improvement in motor function as a result of multidisciplinary acute inpatient rehabilitation.

  19. [Pathologists and the French network of expertise on rare cancers ENT: The REFCORpath].

    Science.gov (United States)

    Badoual, Cécile; Baglin, Anne-Catherine; Wassef, Michel; Thariat, Juliette; Reyt, Emile; Janot, François; Baujat, Bertrand

    2014-02-01

    Aerodigestive tract tumors are very diverse, either in terms of location, or histologically. Also, this heterogeneity poses particular problems for the histological diagnosis but also for the establishment of the most appropriate treatment. Thus, the network REFCOR (réseau d'expertise français sur les cancers ORL rares/French expert network on rare ENT cancers) was created to better understand these issues, by proposing an epidemiological and diagnostic approach with research collaborations. This network is dedicated to all primary malignant tumors of the salivary glands, ear, nasal cavity and sinuses and all head and neck malignancies other than conventional squamous cell carcinoma. The REFCORpath network consists of expert pathologists and offers, through a network of scanned images, a second opinion or even a third.

  20. Bell’s Palsy As a Rare First Presentation of Breast Cancer

    Directory of Open Access Journals (Sweden)

    Mostafa Hosseini

    2016-06-01

    Full Text Available Background: Otalgia and Bell’s palsy are rare manifestations of metastasis and the most common presentation of an inflammatory process in the temporal bone.Case presentation: This article explains a 34-year-old woman with breast cancer who presented with cranial nerve palsy symptoms. The 7th and 8th cranial nerves were involved in the metastatic phase and then hoarseness was added to her symptoms. Brain MRI showed a petrous lesion in the temporal bone due to metastasis, which was the first clue to cancer. Her metastatic workup showed multiple bone lesions. On chest CT scan, multiple lung lesions were noted. Also, a breast mass was discovered on her chest CT scan. On breast examination an irregular mass fixed to the pectoralis muscle was found. Pathologic evaluation of samples obtained through ultrasound-guided core needle biopsy confirmed the diagnosis of invasive ductal carcinoma.Conclusion: Temporal bone metastases are rare and may be asymptomatic, or with mild symptoms mimicking mastoid infections. Physicians should consider metastatic cancer on the list of differential diagnoses in patients presenting with prolonged otologic symptoms or facial nerve disorders.

  1. Neoplastic infiltration of the sphenoid wing: a rare manifestation of metastatic colorectal cancer.

    Science.gov (United States)

    Pinato, David James; Krell, Jonathan; Wasan, Harpreet; Sharma, Rohini

    2011-12-01

    Atypical patterns of metastatic spread from colorectal primary tumors are often misdiagnosed, with potential implications for the clinical outcome. Metastatic diffusion to the splanchnocranium is extremely rare in colorectal cancer. A histological proof of diagnosis is rarely obtained and therapeutic management is a challenge. We describe the case of a 46-year-old patient who presented with a radiologically proven sphenoid wing metastasis. The patient presented with left-sided exophthalmos while receiving systemic chemotherapy for relapsed high-risk colorectal cancer. A left sphenoid wing metastasis was proven by a head computed tomography scan. A metastatic spread to the sino-nasal tract is regarded as a poor prognosis determinant in colorectal cancer and presents a unique set of diagnostic and therapeutic challenges. The compression of noble structures such as the optic nerve holds serious implications in terms of quality of life but there is insufficient evidence clarifying whether radiotherapy or surgery represent the best option for these patients, leaving the therapeutic plan to be decided case by case.

  2. Cancer-targeted near infrared imaging using rare earth ion-doped ceramic nanoparticles.

    Science.gov (United States)

    Zako, Tamotsu; Yoshimoto, Miya; Hyodo, Hiroshi; Kishimoto, Hidehiro; Ito, Masaaki; Kaneko, Kazuhiro; Soga, Kohei; Maeda, Mizuo

    2015-01-01

    The use of near-infrared (NIR) light over 1000 nm (OTN-NIR or second NIR) is advantageous for bioimaging because it enables deep tissue penetration due to low scattering and autofluorescence. In this report, we describe the application of rare earth ion-doped ceramic nanoparticles to cancer-targeted NIR imaging using erbium and ytterbium ion-doped yttrium oxide nanoparticles (YNP) functionalized with streptavidin via bi-functional PEG (SA-YNP). YNP has NIR emission at 1550 nm, with NIR excitation at 980 nm (NIR-NIR imaging). Cancer-specific NIR-NIR imaging was demonstrated using SA-YNP and biotinylated antibodies on cancer cells and human colon cancer tissues. NIR-NIR imaging through porcine meat of 1 cm thickness was also demonstrated, supporting the possible application of deep tissue NIR-NIR bioimaging using YNP as a probe. Our results suggest that non-invasive imaging using YNP has great potential for general application in cancer imaging in living subjects.

  3. Rare Sites of Metastases in Prostate Cancer Detected on Ga-68 PSMA PET/CT Scan—A Case Series

    Science.gov (United States)

    Dureja, Sugandha; Thakral, Parul; Pant, Vineet; Sen, Ishita

    2017-01-01

    Ga-68 labeled prostate-specific membrane antigen (PSMA) whole body PET/CT scan is a novel upcoming modality for the evaluation of prostate cancer. We present three cases of prostate cancer showing rare sites of metastases like brain, penis, and liver detected on Ga-68 PSMA PET/CT scan thus emphasizing its role in lesion detection and staging. PMID:28242977

  4. Photoablative dilution with pre-enrichment for the clonal isolation of rare cancer cells

    Science.gov (United States)

    Zordan, Michael D.; Leary, James F.

    2009-02-01

    The clonal isolation of rare cells, especially cancer and stem cells, in a population is important to cell biology. We have demonstrated that the Laser-Enabled Analysis and Processing (LEAP, Cyntellect Inc., San Diego, CA) instrument can be used to efficiently produce clones by photoablative dilution. The LEAP instrument performs automated fluorescence imaging and real-time image analysis to classify cells. The instrument also features a pulsed laser that gives it the ability to purify a sample by eliminating unwanted cells via laser ablation or UV-induced apoptosis. In photoablative dilution, rare cells are deposited into a multiwell plate at 10 cells per well. Then one cell is chosen to clone, and the other cells present in the well are eliminated by laser ablation. We have successfully used LEAP to produce single cell clones in 95% of wells (originally containing 5+/-2.1 cells/well). While photoablative dilution is a very effective way of producing clonal cultures, it has a fundamental limitation in the low number of cells that can be processed. This can be overcome by performing a pre-enrichment to increase the frequency of the rare cells to be cloned. Another enrichment strategy is flow cytometry based cell sorting. Flow sorting can provide greater than 104 fold enrichment and cells can be sorted directly into a multiwell plate. With pre-enrichment, photoablative dilution can be used to clonally isolate rare cells. This is especially important in cases where the total number of potentially rare cells recovered by first stage enrichment sorting is only 10-200 cells. Such a situation which would normally preclude second pass sorting for purity by the high-throughput first stage cell separation technology.

  5. Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.

    Science.gov (United States)

    Litchfield, Kevin; Levy, Max; Dudakia, Darshna; Proszek, Paula; Shipley, Claire; Basten, Sander; Rapley, Elizabeth; Bishop, D Timothy; Reid, Alison; Huddart, Robert; Broderick, Peter; Castro, David Gonzalez de; O'Connor, Simon; Giles, Rachel H; Houlston, Richard S; Turnbull, Clare

    2016-12-20

    Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases and 1,644 controls. We search for genes that are recurrently affected by rare variants (minor allele frequency disruptive mutations in the cilia-microtubule genes (CMG) as compared with 0.5% of controls (P=2.1 × 10(-8)). The most significantly mutated CMG is DNAAF1 with biallelic inactivation and loss of DNAAF1 expression shown in tumours from carriers. DNAAF1 mutation as a cause of TGCT is supported by a dnaaf1(hu255h)(+/-) zebrafish model, which has a 94% risk of TGCT. Our data implicate cilia-microtubule inactivation as a cause of TGCT and provide evidence for CMGs as cancer susceptibility genes.

  6. Intrauterine device--associated pelvic actinomycosis: a rare disease mimicking advanced ovarian cancer: a case report.

    Science.gov (United States)

    Kirova, Y M; Feuilhade, F; Belda-Lefrère, M A; Le Bourgeois, J P

    1997-01-01

    A case report of intrauterine device (IUD)-associated tubo-ovarian actinomycosis is presented. The patient was a 37-year-old nulliparous woman with IUD usage for the last four years. She presented anemia and weight lost of 8 kg. Ultrasound and computed tomography showed an unilateral large mass in the right adnexum adherent to the uterus and compressing the urinary bladder. Preoperative diagnosis of ovarian cancer with liver metastases was made. Bilateral salpingoophorectomy and total abdominal hysterectomy were performed. After pathological and biological analyses, actinomycosis was diagnosed and the patient was treated postoperatively with penicillin. The purpose of this article is to add to the literature a new case of this rare disease which clinically mimics ovarian cancer.

  7. Neuroleptic Malignant Syndrome in a Patient with Tongue Cancer: A Report of a Rare Case

    Directory of Open Access Journals (Sweden)

    Osamu Baba

    2013-01-01

    Full Text Available Background. Neuroleptic malignant syndrome (NMS is a rare but life-threatening complication of neuroleptic drugs, which are used widely in head and neck cancer (HANC patients who develop delirium. Methods and Results. Postoperative delirium in a 39-year-old man with tongue cancer was treated with haloperidol and chlorpromazine. Three days after the first administration of antipsychotics, the patient exhibited elevated body temperature, autonomic and extrapyramidal symptoms, and impaired consciousness. A definitive diagnosis was made using the research diagnostic criteria for NMS in the DSM-IV, and the antipsychotics were immediately discontinued. The patient was given dantrolene and bromocriptine to treat the NMS. The patient’s hyperthermia, elevated creatinin kinase (CK, and muscle rigidity improved gradually, with all symptoms of NMS resolving completely by 13 days after the diagnosis. Conclusions. HANC surgeons must be alert for early signs of NMS and use antipsychotics conservatively to avoid NMS and its potentially fatal outcome.

  8. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

    Science.gov (United States)

    Southey, Melissa C; Goldgar, David E; Winqvist, Robert; Pylkäs, Katri; Couch, Fergus; Tischkowitz, Marc; Foulkes, William D; Dennis, Joe; Michailidou, Kyriaki; van Rensburg, Elizabeth J; Heikkinen, Tuomas; Nevanlinna, Heli; Hopper, John L; Dörk, Thilo; Claes, Kathleen Bm; Reis-Filho, Jorge; Teo, Zhi Ling; Radice, Paolo; Catucci, Irene; Peterlongo, Paolo; Tsimiklis, Helen; Odefrey, Fabrice A; Dowty, James G; Schmidt, Marjanka K; Broeks, Annegien; Hogervorst, Frans B; Verhoef, Senno; Carpenter, Jane; Clarke, Christine; Scott, Rodney J; Fasching, Peter A; Haeberle, Lothar; Ekici, Arif B; Beckmann, Matthias W; Peto, Julian; Dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Bolla, Manjeet K; Sawyer, Elinor J; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Marme, Federik; Burwinkel, Barbara; Yang, Rongxi; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig; Nielsen, Sune F; Flyger, Henrik; Benitez, Javier; Zamora, M Pilar; Perez, Jose Ignacio Arias; Menéndez, Primitiva; Anton-Culver, Hoda; Neuhausen, Susan; Ziogas, Argyrios; Clarke, Christina A; Brenner, Hermann; Arndt, Volker; Stegmaier, Christa; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Bogdanova, Natalia V; Antonenkova, Natalia N; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Spurdle, Amanda B; Investigators, kConFab; Wauters, Els; Smeets, Dominiek; Beuselinck, Benoit; Floris, Giuseppe; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Olson, Janet E; Vachon, Celine; Pankratz, Vernon S; McLean, Catriona; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Kristensen, Vessela; Alnæs, Grethe Grenaker; Zheng, Wei; Hunter, David J; Lindstrom, Sara; Hankinson, Susan E; Kraft, Peter; Andrulis, Irene; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Jukkola-Vuorinen, Arja; Grip, Mervi; Kauppila, Saila; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline; Hollestelle, Antoinette; Garcia-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Czene, Kamila; Darabi, Hatef; Eriksson, Mikael; Eccles, Diana M; Rafiq, Sajjad; Tapper, William J; Gerty, Sue M; Hooning, Maartje J; Martens, John W M; Collée, J Margriet; Tilanus-Linthorst, Madeleine; Hall, Per; Li, Jingmei; Brand, Judith S; Humphreys, Keith; Cox, Angela; Reed, Malcolm W R; Luccarini, Craig; Baynes, Caroline; Dunning, Alison M; Hamann, Ute; Torres, Diana; Ulmer, Hans Ulrich; Rüdiger, Thomas; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Slager, Susan; Toland, Amanda E; Ambrosone, Christine B; Yannoukakos, Drakoulis; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Álvarez, Nuria; Herrero, Daniel; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Simard, Jacques; Dumont, Martine; Soucy, Penny; Eeles, Rosalind; Muir, Kenneth; Wiklund, Fredrik; Gronberg, Henrik; Schleutker, Johanna; Nordestgaard, Børge G; Weischer, Maren; Travis, Ruth C; Neal, David; Donovan, Jenny L; Hamdy, Freddie C; Khaw, Kay-Tee; Stanford, Janet L; Blot, William J; Thibodeau, Stephen; Schaid, Daniel J; Kelley, Joseph L; Maier, Christiane; Kibel, Adam S; Cybulski, Cezary; Cannon-Albright, Lisa; Butterbach, Katja; Park, Jong; Kaneva, Radka; Batra, Jyotsna; Teixeira, Manuel R; Kote-Jarai, Zsofia; Olama, Ali Amin Al; Benlloch, Sara; Renner, Stefan P; Hartmann, Arndt; Hein, Alexander; Ruebner, Matthias; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Lambretchs, Sandrina; Doherty, Jennifer A; Rossing, Mary Anne; Nickels, Stefan; Eilber, Ursula; Wang-Gohrke, Shan; Odunsi, Kunle; Sucheston-Campbell, Lara E; Friel, Grace; Lurie, Galina; Killeen, Jeffrey L; Wilkens, Lynne R; Goodman, Marc T; Runnebaum, Ingo; Hillemanns, Peter A; Pelttari, Liisa M; Butzow, Ralf; Modugno, Francesmary; Edwards, Robert P; Ness, Roberta B; Moysich, Kirsten B; du Bois, Andreas; Heitz, Florian; Harter, Philipp; Kommoss, Stefan; Karlan, Beth Y; Walsh, Christine; Lester, Jenny; Jensen, Allan; Kjaer, Susanne Krüger; Høgdall, Estrid; Peissel, Bernard; Bonanni, Bernardo; Bernard, Loris; Goode, Ellen L; Fridley, Brooke L; Vierkant, Robert A; Cunningham, Julie M; Larson, Melissa C; Fogarty, Zachary C; Kalli, Kimberly R; Liang, Dong; Lu, Karen H; Hildebrandt, Michelle A T; Wu, Xifeng; Levine, Douglas A; Dao, Fanny; Bisogna, Maria; Berchuck, Andrew; Iversen, Edwin S; Marks, Jeffrey R; Akushevich, Lucy

    2016-12-01

    The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10(-5)), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10(-8)) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  9. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

    Science.gov (United States)

    Southey, Melissa C; Goldgar, David E; Winqvist, Robert; Pylkäs, Katri; Couch, Fergus; Tischkowitz, Marc; Foulkes, William D; Dennis, Joe; Michailidou, Kyriaki; van Rensburg, Elizabeth J; Heikkinen, Tuomas; Nevanlinna, Heli; Hopper, John L; Dörk, Thilo; Claes, Kathleen BM; Reis-Filho, Jorge; Teo, Zhi Ling; Radice, Paolo; Catucci, Irene; Peterlongo, Paolo; Tsimiklis, Helen; Odefrey, Fabrice A; Dowty, James G; Schmidt, Marjanka K; Broeks, Annegien; Hogervorst, Frans B; Verhoef, Senno; Carpenter, Jane; Clarke, Christine; Scott, Rodney J; Fasching, Peter A; Haeberle, Lothar; Ekici, Arif B; Beckmann, Matthias W; Peto, Julian; dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Bolla, Manjeet K; Sawyer, Elinor J; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Marme, Federik; Burwinkel, Barbara; Yang, Rongxi; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig; Nielsen, Sune F; Flyger, Henrik; Benitez, Javier; Zamora, M Pilar; Perez, Jose Ignacio Arias; Menéndez, Primitiva; Anton-Culver, Hoda; Neuhausen, Susan; Ziogas, Argyrios; Clarke, Christina A; Brenner, Hermann; Arndt, Volker; Stegmaier, Christa; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Bogdanova, Natalia V; Antonenkova, Natalia N; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Spurdle, Amanda B; Investigators, kConFab; Wauters, Els; Smeets, Dominiek; Beuselinck, Benoit; Floris, Giuseppe; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Olson, Janet E; Vachon, Celine; Pankratz, Vernon S; McLean, Catriona; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Kristensen, Vessela; Alnæs, Grethe Grenaker; Zheng, Wei; Hunter, David J; Lindstrom, Sara; Hankinson, Susan E; Kraft, Peter; Andrulis, Irene; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Jukkola-Vuorinen, Arja; Grip, Mervi; Kauppila, Saila; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline; Hollestelle, Antoinette; Garcia-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Czene, Kamila; Darabi, Hatef; Eriksson, Mikael; Eccles, Diana M; Rafiq, Sajjad; Tapper, William J; Gerty, Sue M; Hooning, Maartje J; Martens, John W M; Collée, J Margriet; Tilanus-Linthorst, Madeleine; Hall, Per; Li, Jingmei; Brand, Judith S; Humphreys, Keith; Cox, Angela; Reed, Malcolm W R; Luccarini, Craig; Baynes, Caroline; Dunning, Alison M; Hamann, Ute; Torres, Diana; Ulmer, Hans Ulrich; Rüdiger, Thomas; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Slager, Susan; Toland, Amanda E; Ambrosone, Christine B; Yannoukakos, Drakoulis; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Álvarez, Nuria; Herrero, Daniel; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Simard, Jacques; Dumont, Martine; Soucy, Penny; Eeles, Rosalind; Muir, Kenneth; Wiklund, Fredrik; Gronberg, Henrik; Schleutker, Johanna; Nordestgaard, Børge G; Weischer, Maren; Travis, Ruth C; Neal, David; Donovan, Jenny L; Hamdy, Freddie C; Khaw, Kay-Tee; Stanford, Janet L; Blot, William J; Thibodeau, Stephen; Schaid, Daniel J; Kelley, Joseph L; Maier, Christiane; Kibel, Adam S; Cybulski, Cezary; Cannon-Albright, Lisa; Butterbach, Katja; Park, Jong; Kaneva, Radka; Batra, Jyotsna; Teixeira, Manuel R; Kote-Jarai, Zsofia; Olama, Ali Amin Al; Benlloch, Sara; Renner, Stefan P; Hartmann, Arndt; Hein, Alexander; Ruebner, Matthias; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Lambretchs, Sandrina; Doherty, Jennifer A; Rossing, Mary Anne; Nickels, Stefan; Eilber, Ursula; Wang-Gohrke, Shan; Odunsi, Kunle; Sucheston-Campbell, Lara E; Friel, Grace; Lurie, Galina; Killeen, Jeffrey L; Wilkens, Lynne R; Goodman, Marc T; Runnebaum, Ingo; Hillemanns, Peter A; Pelttari, Liisa M; Butzow, Ralf; Modugno, Francesmary; Edwards, Robert P; Ness, Roberta B; Moysich, Kirsten B; du Bois, Andreas; Heitz, Florian; Harter, Philipp; Kommoss, Stefan; Karlan, Beth Y; Walsh, Christine; Lester, Jenny; Jensen, Allan; Kjaer, Susanne Krüger; Høgdall, Estrid; Peissel, Bernard; Bonanni, Bernardo; Bernard, Loris; Goode, Ellen L; Fridley, Brooke L; Vierkant, Robert A; Cunningham, Julie M; Larson, Melissa C; Fogarty, Zachary C; Kalli, Kimberly R; Liang, Dong; Lu, Karen H; Hildebrandt, Michelle A T; Wu, Xifeng; Levine, Douglas A; Dao, Fanny; Bisogna, Maria; Berchuck, Andrew; Iversen, Edwin S; Marks, Jeffrey R; Akushevich, Lucy; Cramer, Daniel W; Schildkraut, Joellen; Terry, Kathryn L; Poole, Elizabeth M; Stampfer, Meir; Tworoger, Shelley S; Bandera, Elisa V; Orlow, Irene; Olson, Sara H; Bjorge, Line; Salvesen, Helga B; van Altena, Anne M; Aben, Katja K H; Kiemeney, Lambertus A; Massuger, Leon F A G; Pejovic, Tanja; Bean, Yukie; Brooks-Wilson, Angela; Kelemen, Linda E; Cook, Linda S; Le, Nhu D; Górski, Bohdan; Gronwald, Jacek; Menkiszak, Janusz; Høgdall, Claus K; Lundvall, Lene; Nedergaard, Lotte; Engelholm, Svend Aage; Dicks, Ed; Tyrer, Jonathan; Campbell, Ian; McNeish, Iain; Paul, James; Siddiqui, Nadeem; Glasspool, Rosalind; Whittemore, Alice S; Rothstein, Joseph H; McGuire, Valerie; Sieh, Weiva; Cai, Hui; Shu, Xiao-Ou; Teten, Rachel T; Sutphen, Rebecca; McLaughlin, John R; Narod, Steven A; Phelan, Catherine M; Monteiro, Alvaro N; Fenstermacher, David; Lin, Hui-Yi; Permuth, Jennifer B; Sellers, Thomas A; Chen, Y Ann; Tsai, Ya-Yu; Chen, Zhihua; Gentry-Maharaj, Aleksandra; Gayther, Simon A; Ramus, Susan J; Menon, Usha; Wu, Anna H; Pearce, Celeste L; Van Den Berg, David; Pike, Malcolm C; Dansonka-Mieszkowska, Agnieszka; Plisiecka-Halasa, Joanna; Moes-Sosnowska, Joanna; Kupryjanczyk, Jolanta; Pharoah, Paul DP; Song, Honglin; Winship, Ingrid; Chenevix-Trench, Georgia; Giles, Graham G; Tavtigian, Sean V; Easton, Doug F; Milne, Roger L

    2016-01-01

    Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10−5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10−8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important. PMID:27595995

  10. Systematic Functional Interrogation of Rare Cancer Variants Identifies Oncogenic Alleles | Office of Cancer Genomics

    Science.gov (United States)

    Cancer genome characterization efforts now provide an initial view of the somatic alterations in primary tumors. However, most point mutations occur at low frequency, and the function of these alleles remains undefined. We have developed a scalable systematic approach to interrogate the function of cancer-associated gene variants. We subjected 474 mutant alleles curated from 5,338 tumors to pooled in vivo tumor formation assays and gene expression profiling. We identified 12 transforming alleles, including two in genes (PIK3CB, POT1) that have not been shown to be tumorigenic.

  11. Clear Cell Carcinoma of the Breast: A Rare Breast Cancer Subtype - Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Vilma Ratti

    2015-11-01

    Full Text Available Background: Glycogen-rich clear cell breast carcinoma is a rare histological breast cancer subtype. Its prognosis may vary depending on specific clinical and pathological characteristics such as low grade, strong positivity of estrogen receptor (ER expression and early diagnosis. Case Presentation: We present the case of a 53-year-old woman with a bleeding 10-cm-diameter mass in the left breast. The histological examination showed a poorly differentiated tumor with malignant cells characterized by abundant clear cytoplasm. The diagnosis of clear cell carcinoma was based on the histological characteristics of the tumor, and a nonmammary origin was initially ruled out. The tumor was triple negative [i.e. ER, progesterone receptor (PR and HER2 negative]. Four months after the initial locoregional treatment, the patient developed lung and distant lymph node metastases. Conclusions: Glycogen-rich clear cell carcinoma of the breast is a rare tumor. Early diagnosis, absence of lymph node metastases and ER/PR positivity are associated with a better prognosis, as in other common breast cancer subtypes.

  12. Evaluation of the Quality of Online Information for Patients with Rare Cancers: Thyroid Cancer.

    Science.gov (United States)

    Kuenzel, Ulrike; Monga Sindeu, Tabea; Schroth, Sarah; Huebner, Jutta; Herth, Natalie

    2017-01-24

    The Internet offers an easy and quick access to a vast amount of patient information. However, several studies point to the poor quality of many websites and the resulting hazards of false information. The aim of this study was to assess quality of information on thyroid cancer. A patients' search for information about thyroid cancer on German websites was simulated using the search engine Google and the patient portal "Patienten-Information.de". The websites were assessed using a standardized instrument with formal and content aspects from the German Cancer Society. Supporting the results of prior studies that analysed patient information on the Internet, the data showed that the quality of patient information on thyroid cancer is highly heterogeneous depending on the website providers. The majority of website providers are represented by media and health providers other than health insurances, practices and professionals offering patient information of relatively poor quality. Moreover, most websites offer patient information of low-quality content. Only a few trustworthy, high-quality websites exist. Especially Google, a common search engine, focuses more on the dissemination of information than on quality aspects. In order to improve the patient information from the Internet, the visibility of high-quality websites must be improved. For that, education programs to improve patients' eHealth literacy are needed. A quick and easy evaluation tool for online information suited for patients should be implemented, and patients should be taught to integrate such a tool into their research process.

  13. Embracing the role of real life studies in the management of rare cancers

    Directory of Open Access Journals (Sweden)

    Omar Abdel-Rahman

    2016-10-01

    Full Text Available For commonly occurring cancers, as well as situations or conditions that are frequently encountered in oncological setting, plenty of prospective data are available to oncologists or medical practitioners to facilitate the decision making process. However, for rare cancers and atypical scenarios, there are limited references in the current literature. Understandably, this is attributed to the difficulty in recruiting enough patients to systematically study such rare manifestations. Under these circumstances, the importance of real life data that are collected via population-based studies, case series, and case reports is especially significant. In the current issue of AMOR, the journal features three case reports that describe distinctly uncommon oncological scenarios. In one report, Vafaii and Shao highlighted the stepwise development of classical Hodgkin lymphoma (cHL from diffuse large B cell lymphoma (DLBCL via precursor Reed-Sternberg/Hodgkin cells, as confirmed via multiple biopsies. They suggested that cHL and DLBCL can be clonally related, even when developing metachronously in the same patient, based on the presence of a hybrid intermediate stage. Meanwhile, Xian and colleagues reported the surgical management of brachial plexus pain that is caused by Pancoast tumor. According to them, the condition closely resembles the symptoms of brachial plexus injury and thus, the underlying cause is easily misdiagnosed. Finally, Coehlo and co-workers presented a report on the prolonged disease control of esthesioneuroblastoma using a multimodality approach, combining surgery, radiotherapy, and chemotherapy to derive an effective treatment strategy. It is noteworthy that despite an initial distant metastasis setback, the patient responded positively to palliative chemotherapy, thus proving the value of the much debated approach.In short, these case reports are an invaluable addition to existing medical literature concerning the diagnoses and

  14. [Rare ovarian tumours: therapeutic strategies in 2010, national website observatory for rare ovarian cancers and delineation of referent centers in France].

    Science.gov (United States)

    Ray-Coquard, I; Pautier, P; Pujade-Lauraine, E; Méeus, P; Morice, P; Treilleux, I; Duvillard, P; Alexandre, J; Lhommé, C; Selle, F; Guastalla, Jp

    2010-01-01

    Majorities of the rare ovarian cancers were represented by germ cell tumours and sex cords ovarian tumours with borderline tumours, clear cell carcinoma and mucinous carcinoma and are extremely rare malignant diseases of the ovaries. Tumors of the stromal (Leydig cells) and/or sex cords (Sertoli cells) represent approximately 7% of ovarian cancers and develop from the conjunctive tissue (respectively, interstitial and nurse cells) of the ovaries. All together, they represented less than 5% of the adult malignant and non malignant ovarian tumours. Treatment of rare ovarian tumors is currently as follows. Surgery is the same as that for ovarian adenocarcinoma, with one major difference: conservation of reproductive function in women of reproductive age is usual case for this type of tumor. Chemotherapy for germ cell and sex cords tumors, based on data reported in the literature is the same as that prescribed for testicular germ-cell tumors. For rare epithelial carcinoma, carboplatin plus paclitaxel remains the standard attitude with a well-known less efficiency than for other epithelial subtypes. Surgery, chemotherapy and possible surgical intervention for residual lesions are highly complex. Too rare to be included in randomized studies, treatment of these tumors has benefited from the therapeutic advancements made against testicular germ-cell tumors or with publications using retrospective data. Effectively, some prognostic factors such stage, histology, number of managed patients seems to be prognostic for survival. Because of the rarity of these tumours a specialized website (www.ovaire-rare.org) was developed in France in 2002. Objectives were: to delineate prognostic factors of these very rare diseases, to favour patient inclusion in a clinical trial available online, to provide access to online medical expert forum (disease-related) for complex cases, and finally to demonstrate the impact of these tools on improving medical practice. The website provides very

  15. Management of Adenoid Cystic Carcinoma of the Breast: A Rare Cancer Network Study

    Energy Technology Data Exchange (ETDEWEB)

    Khanfir, Kaouthar, E-mail: kaouthar.khanfir@rsv-gnw.ch [Hopital de Sion, CHCVs, Sion (Switzerland); Kallel, Adel [Institut Gustave Roussy, Villejuif (France); Villette, Sylviane [Centre Rene Huguenin, Paris (France); Belkacemi, Yazid [CHU Henri Mondor, Centre Oscar Lambret, Lille (France); Vautravers, Claire [Centre George Francois Leclerc, Dijon (France); Nguyen, TanDat [Institut Jean Gaudinot, Reims (France); Miller, Robert [Mayo Clinic, Rochester, Minnesota (United States); Li Yexiong [Peking Union Medical College, Beijing (China); Taghian, Alphonse G. [Massachusetts General Hospital, Boston, Massachusetts (United States); Boersma, Liesbeth [Maastricht University Medical Center (MAASTRO clinic), Maastricht (Netherlands); Poortmans, Philip [Dr. Bernard Verbeeten Institute, Tilburg (Netherlands); Goldberg, Hadassah [Western Galilee Hospital-Nahariya, Nahariya (Israel); Vees, Hansjorg [Hopitaux Universitaires de Geneve, Geneva (Switzerland); Senkus, Elzbieta [Medical University of Gdansk, Gdansk (Poland); Igdem, Sefik; Ozsahin, Mahmut [Istanbul Bilim University, Istanbul (Turkey); Jeanneret Sozzi, Wendy [Centre Hospitalier Universitaire Vaudois, Lausanne (Switzerland)

    2012-04-01

    Background: Mammary adenoid cystic carcinoma (ACC) is a rare breast cancer. The aim of this retrospective study was to assess prognostic factors and patterns of failure, as well as the role of radiation therapy (RT), in ACC. Methods: Between January 1980 and December 2007, 61 women with breast ACC were treated at participating centers of the Rare Cancer Network. Surgery consisted of lumpectomy in 41 patients and mastectomy in 20 patients. There were 51(84%) stage pN0 and 10 stage cN0 (16%) patients. Postoperative RT was administered to 40 patients (35 after lumpectomy, 5 after mastectomy). Results: With a median follow-up of 79 months (range, 6-285), 5-year overall and disease-free survival rates were 94% (95% confidence interval [CI], 88%-100%) and 82% (95% CI, 71%-93%), respectively. The 5-year locoregional control (LRC) rate was 95% (95% CI, 89%-100%). Axillary lymph node dissection or sentinel node biopsy was performed in 84% of cases. All patients had stage pN0 disease. In univariate analysis, survival was not influenced by the type of surgery or the use of postoperative RT. The 5-year LRC rate was 100% in the mastectomy group versus 93% (95% CI, 83%-100%) in the breast-conserving surgery group, respectively (p = 0.16). For the breast-conserving surgery group, the use of RT significantly correlated with LRC (p = 0.03); the 5-year LRC rates were 95% (95% CI, 86%-100%) for the RT group versus 83% (95% CI, 54%-100%) for the group receiving no RT. No local failures occurred in patients with positive margins, all of whom received postoperative RT. Conclusion: Breast-conserving surgery is the treatment of choice for patients with ACC breast cancer. Axillary lymph node dissection or sentinel node biopsy might not be recommended. Postoperative RT should be proposed in the case of breast-conserving surgery.

  16. In Vivo Uptake of Rare Earth Metals by Triple-Negative Breast Cancer Cells.

    Science.gov (United States)

    Roncati, Luca; Gatti, Antonietta Morena; Barbolini, Giuseppe; Piscioli, Francesco; Pusiol, Teresa; Maiorana, Antonio

    2017-02-09

    Rare earth metals (REM) are a group of 17 chemical elements in the periodic table, namely scandium (Sc), yttrium (Y) and the lanthanides. In relation to atomic volume and geological behavior, the lanthanides are further subdivided into light, medium and heavy REM. They find many applications in the technological field; however, their impact on the human health is still conflicting and, for many aspects, unknown. During a research program carried on 113 cases of female breast cancer, immunohistochemically categorized in Her2-positive (29 cases), Her2-negative (57 cases) and triple negative (27 cases), aimed to evaluate the role of environmental particulate in carcinogenesis by elemental microanalysis, for the first time in literature we have detected a REM uptake, in detail europium (Eu), dysprosium (Dy) and praseodymium (Pr), inside the neoplastic cells belonging to a single triple negative breast cancer. Curiously, the woman affected by this form of malignancy had worked in the ceramic industry, a well-known source of REM, during her life, and she was the one and only patient of our series to be dedicated to this activity. The medical repercussions of our findings are here discussed: in fact, a REM detection in only 1 of 113 examined cases seems to exclude active roles in breast carcinogenesis and discloses new possibilities for therapeutic developments in triple negative breast cancer.

  17. Do women in rural areas of Serbia rarely apply preventive measures against cervical cancer?

    Directory of Open Access Journals (Sweden)

    Antić Ljiljana

    2014-01-01

    Full Text Available Background/Aim. The incidence of cervical cancer in Central Serbia has the higher rate as compared with that in other European countries. Considering mortality rate for cervical cancer, the standardized rate in Serbia is 10.1 per 10,000 females, which is the second highest one after that in Romania with 13.0. The aim of this study was to examine application of preventive measures for cervical cancer in women both from rural and urban areas in Serbia and if they are associated with sociodemographic characteristics and sexual behaviour. Methods. We analyzed secondary data of the 2006 National Health Survey of the population of Serbia focused on characteristics of adult females aged 25 to 65 years (5.314 in total taking into consideration that programme of the organized screening will include female population aged over 25 years. Results. Respondents from rural areas have gynecological examination less than once a year in comparison with those from urban areas (OR = 0.60, 95% Cl 0.54-0.68. Less women from rural areas did Pap test during the last 12 months in comparison with respondents from urban areas (OR = 0.55, 95% Cl 0.48- 0.64. Respondents from urban areas less often do the Pap test on doctor's advice in comparison with those from rural one (OR = 0.55, 95% Cl 0.42-0.62. Conclusion. This study shows that women in rural areas rarely implement preventive gynecological measures againt cervical cancer in comparison with those in urban areas. Implementation of preventive measures among rural women is conditioned by lower levels of education and lower socioeconomic status. [Projekat Ministarstva nauke Republike Srbije, br. 175025

  18. Rare Helicobacter pylori Infection May Explain Low Stomach Cancer Incidence: Ecological Observations in Bali, Indonesia.

    Science.gov (United States)

    Tanaka, Tsutomu; Mulyadi, I Ketut; Moestikaningsih; Oka, Tjok Gede; Soeripto; Triningsih, Fx Ediati; Triyono, Teguh; Heriyanto, Didik Setyo; Hosono, Akihiro; Suzuki, Sadao; Tokudome, Shinkan

    2016-01-01

    The incidence rate of stomach cancer in Bali, Indonesia, is estimated to be strikingly lower than that in Japan. We conducted an on-site ecological study to investigate the association between the stomach cancer incidence and Helicobacter pylori (H. pylori) infection. Recruiting 291 healthy persons (136 men and 155 women) from the general population in Bali, Indonesia, we conducted a urea breath test (UBT) to examine H. pylori infection, along with a pepsinogen test to detect chronic atrophic gastritis and urine analysis to estimate sodium and potassium excretion. UBT positivities were 9% (2-15, 95% confidence interval) for men and 7% (1-12) for women, and positive cases for H. pylori IgG antibodies were 1% (0-3) for men and 3% (0-5) for women, significantly lower than the respective values in Japan. Positive pepsinogen tests in Bali were 0% (0-0) for men and 1% (0-4) for women, also significantly lower than the Japanese figures. Computed values for daily salt excretion were 13.3±4.1 g (mean ± SD) for men and 11.1±3.1 g for women, as high as corresponding Japanese consumption values. Moreover, the estimated potassium excretion was 3.2±0.7 g for men and 2.8±0.6 g for women in Bali, significantly higher than the figures in Japan. There were no associations across genetic polymorphisms of IL-beta, TNF-alpha, and PTPN11 with UBT positivity. The low incidence of stomach cancer in Bali may thus mainly be due to the rare H. pylori infection. Namely, the bacterium infection seems to be a critical factor for gastric cancer rather than host or other environmental factors.

  19. Eosinophilia as the presenting sign in pancreatic cancer: an extremely rare occurrence.

    Science.gov (United States)

    Ibrahim, Uroosa; Asti, Divya; Saqib, Amina; Mudduluru, Bindu Madhavi; Ayaz, Sadaf; Odaimi, Marcel

    2017-04-01

    A case of pancreatic adenocarcinoma diagnosed following work up for eosinophilia is reported. A 68-year-old female was referred to our Hematology clinic for an absolute eosinophil count of 1869 per microliter. No allergic signs or symptoms were reported. Laboratory studies for parasitic infestations autoimmune disease and collagen vascular disease were negative. Computed tomography of the abdomen revealed a mass in the neck of the pancreas with fine needle aspiration biopsy consistent with adenocarcinoma. The patient received one cycle of modified FOLFIRINOX with complete resolution of the eosinophilia. There are rare case reports of tumor-associated blood eosinophilia in solid malignancies. The finding may be indicative of rapid disease progression and poor prognosis. Our case is the third in published English literature with eosinophilia being the initial finding in pancreatic cancer.

  20. Insider Research with Family Members who have a Member Living with Rare Cancer

    Directory of Open Access Journals (Sweden)

    Jan Foster PhD

    2009-12-01

    Full Text Available In this article the author explores insider research in relation to family members facing a diagnosis of rare cancer, using her experiences as one such family member undertaking doctoral research into journeys similar to hers. The “insider” issue is explored through three realms: the ethical realm, including issues of “fitness” to undertake the research; the methodological realm, including how data are obtained and used; and the trustworthiness realm, including research rigor. The exploration of her insider experiences includes personal challenges in relation to facing familiar emotionally charged experiences, insights gained as a result of her insider status, and her ability to join with participants in ways that might not be possible for an outsider. In the paper the author challenges taken-for-granted assumptions that trustworthiness can be assured only from the position of “objective” researcher. Rather, this analysis places knowledge gained through the processes and products of research as constituted and contextualized.

  1. Malignant Melanoma of the Urethra: A Rare Histologic Subdivision of Vulvar Cancer with a Poor Prognosis

    Directory of Open Access Journals (Sweden)

    Veronika Günther

    2012-01-01

    Full Text Available Malignant melanoma of the urethra is a rare tumour that is difficult to diagnose and treat, resulting in a poor prognosis. In this paper, we present the case of a 65-year-old woman who was referred to a gynaecologist because of a urethral mass that mimicked a caruncle. The tumour was removed by local excision, and a pathological analysis revealed a malignant melanoma. Distal urethrectomy was performed after three months with no evidence of residual tumour. There was no evidence of disease at a six-year followup. In this paper, we compare the epidemiology, treatment, staging, and prognosis of vulvar cancer in general to malignant melanoma of the vulva in particular.

  2. Facial Paralysis and Hearing Loss: A Rare Manifestation of Prostate Cancer Metastases

    Science.gov (United States)

    Saqib, Amina; Mohammad, Farhan; Raza, Muhammad R; Nalluri, Nikhil; Forte, Frank

    2017-01-01

    Dural prostate metastases (DPM) are a rare manifestation of metastatic prostate cancer seen in approximately one to six percent of cases. Presenting symptoms may include signs of elevated intracranial pressure, headache, altered mental status, or cranial nerve palsies. Hearing loss, sensory changes, dysarthria, and dysphagia are rare symptoms in DPM that were present in our patient. We present a case of a 58-year-old male with a known diagnosis of adenocarcinoma of the prostate presenting with symptoms of acute exacerbation of chronic obstructive pulmonary disease (COPD), sub-acute right-sided hearing loss, and right-sided facial paralysis. Over the course of hospitalization, his neurological symptoms worsened and he developed dysarthria, dysphagia, facial numbness, and worsening back pain. He also appeared more withdrawn and lethargic. The symptoms prompted a neurological evaluation and a magnetic resonance imaging (MRI) revealed multiple areas of bone marrow signal abnormality compatible with osseous metastatic disease. There was extensive smooth dural thickening as well as focal nodular thickening, both consistent with dural metastases. The patient was treated with corticosteroids and external beam radiation therapy (EBRT) with improvement in his back pain and facial paralysis. He died two weeks after completing EBRT. Although rare, DPM should be suspected in males over 50 years of age presenting with neurological symptoms. An MRI with gadolinium is most helpful in delineating the presence and extent of dural and calvarial involvement. Corticosteroids and EBRT have been shown to improve neurological function in up to 67% of patients. However, median survival post-radiation remains approximately three months. PMID:28409073

  3. Rare cause of upper gastrointestinal bleeding owing to hepatic cancer invasion: a case report.

    Science.gov (United States)

    Wu, Wei-Ding; Wu, Jia; Yang, Hong-Guo; Chen, Yuan; Zhang, Cheng-Wu; Zhao, Da-Jian; Hu, Zhi-Ming

    2014-09-21

    Upper gastrointestinal bleeding refers to bleeding that arises from the gastrointestinal tract proximal to the ligament of Treitz. The primary reason for gastrointestinal bleeding associated with hepatocellular carcinoma is rupture of a varicose vein owing to pericardial hypotension. We report a rare case of gastrointestinal bleeding with hepatocellular carcinoma in a patient who presented with recurrent gastrointestinal bleeding. The initial diagnosis was gastric cancer with metastasis to the multiple lymph nodes of the lesser curvature. The patient underwent exploratory laparotomy, which identified two lesions in the gastric wall. Total gastrectomy and hepatic local excision was then performed. Pathological results indicated that the hepatocellular carcinoma had invaded the stomach directly, which was confirmed immunohistochemically. The patient is alive with a disease-free survival of 1 year since the surgery. Hepatocellular carcinoma with gastric invasion should be considered as a rare cause of upper gastrointestinal bleeding in hepatocellular carcinoma patients, especially with lesions located in the left lateral hepatic lobe. Surgery is the best solution.

  4. Oral ulcer as an exclusive sign of gastric cancer: report of a rare case

    Directory of Open Access Journals (Sweden)

    Rimassa Lorenza

    2005-09-01

    Full Text Available Abstract Background The oral cavity is a rare but occasional target for metastases, which may masquerade as various benign and inflammatory lesions, and sometimes also be asymptomatic. Oral metastatic lesions have been described in various cancers, particularly lung, breast and kidney carcinoma. Case presentation We here describe an uncommon case of a hard palate mucosa and gingival metastasis from gastric carcinoma that was originally diagnosed as a periodontal disease. Histopathological examination of a biopsy of the lesion revealed a signet-ring cell carcinoma, and a subsequent biopsy of an ulcerated stomach lesion showed a poorly differentiated gastric carcinoma. The patient underwent gastric resection but died of heart failure on the tenth postoperative day; a post-mortem examination revealed a residual bilateral ovarian infiltration by gastric carcinoma (Krukenberg's tumor. Conclusion An occult carcinoma of the stomach may rarely metastasise to the oral cavity even as a first and exclusive manifestation; it is important to bear this possibility in mind because such conditions may mimic a benign disease.

  5. Development of a rare cell fractionation device: application for cancer detection.

    Science.gov (United States)

    Mohamed, Hisham; McCurdy, Leslie D; Szarowski, Donald H; Duva, Salvatore; Turner, James N; Caggana, Michele

    2004-12-01

    Isolating rare cells from biological fluids including whole blood or bone marrow is an interesting biological problem. Characterization of a few metastatic cells from cancer patients for further study is desirable for prognosis/diagnosis. Traditional methods have not proven adequate, due to the compositional complexity of blood, with its large numbers of cell types. To separate individual cells based on their mechanical characteristics, we have developed a series of massively parallel microfabricated sieving device. These devices were constructed with four successively narrower regions of channels numbering approximately 1800 per region. As cells traversed the device, they encountered each region and stopped at a gap width that prohibited passage due to their size. Cultured neuroblastoma cells, when mixed with whole blood and applied to the device, were retained in the 10-microm-wide by 20-microm-deep channels. All other cells migrated to the output. A derivative of the same device was utilized to characterize migration of whole blood. Adult white blood cells were retained at the 2.5-microm-wide by 5-microm-deep channels, while red blood cells passed through these channels. Devices designed to capture rare cells in peripheral circulation for downstream analysis will provide an important tool for diagnosis and treatment.

  6. Cancer stem cells from a rare form of glioblastoma multiforme involving the neurogenic ventricular wall

    Directory of Open Access Journals (Sweden)

    Li Shengwen

    2012-09-01

    Full Text Available Abstract Background The cancer stem cell (CSC hypothesis posits that deregulated neural stem cells (NSCs form the basis of brain tumors such as glioblastoma multiforme (GBM. GBM, however, usually forms in the cerebral white matter while normal NSCs reside in subventricular and hippocampal regions. We attempted to characterize CSCs from a rare form of glioblastoma multiforme involving the neurogenic ventricular wall. Methods We described isolating CSCs from a GBM involving the lateral ventricles and characterized these cells with in vitro molecular biomarker profiling, cellular behavior, ex vivo and in vivo techniques. Results The patient’s MRI revealed a heterogeneous mass with associated edema, involving the left subventricular zone. Histological examination of the tumor established it as being a high-grade glial neoplasm, characterized by polygonal and fusiform cells with marked nuclear atypia, amphophilic cytoplasm, prominent nucleoli, frequent mitotic figures, irregular zones of necrosis and vascular hyperplasia. Recurrence of the tumor occurred shortly after the surgical resection. CD133-positive cells, isolated from the tumor, expressed stem cell markers including nestin, CD133, Ki67, Sox2, EFNB1, EFNB2, EFNB3, Cav-1, Musashi, Nucleostemin, Notch 2, Notch 4, and Pax6. Biomarkers expressed in differentiated cells included Cathepsin L, Cathepsin B, Mucin18, Mucin24, c-Myc, NSE, and TIMP1. Expression of unique cancer-related transcripts in these CD133-positive cells, such as caveolin-1 and −2, do not appear to have been previously reported in the literature. Ex vivo organotypic brain slice co-culture showed that the CD133+ cells behaved like tumor cells. The CD133-positive cells also induced tumor formation when they were stereotactically transplanted into the brains of the immune-deficient NOD/SCID mice. Conclusions This brain tumor involving the neurogenic lateral ventricular wall was comprised of tumor-forming, CD133-positive cancer

  7. Small Cell Carcinoma of the Urinary Bladder: A Retrospective, Multicenter Rare Cancer Network Study of 107 Patients

    NARCIS (Netherlands)

    Pasquier, D.; Barney, B.; Sundar, S.; Poortmans, P.M.P.; Villa, S.; Nasrallah, H.; Boujelbene, N.; Ghadjar, P.; Lassen-Ramshad, Y.; Senkus, E.; Oar, A.; Roelandts, M.; Amichetti, M.; Vees, H.; Zilli, T.; Ozsahin, M.

    2015-01-01

    PURPOSE: Small cell carcinomas of the bladder (SCCB) account for fewer than 1% of all urinary bladder tumors. There is no consensus regarding the optimal treatment for SCCB. METHODS AND MATERIALS: Fifteen academic Rare Cancer Network medical centers contributed SCCB cases. The eligibility criteria w

  8. Genome-wide assessment of the association of rare and common copy number variations to testicular germ cell cancer

    DEFF Research Database (Denmark)

    Edsgard, Stefan Daniel; Dalgaard, Marlene Danner; Weinhold, Nils;

    2013-01-01

    Testicular germ cell cancer (TGCC) is one of the most heritable forms of cancer. Previous genome-wide association studies have focused on single nucleotide polymorphisms, largely ignoring the influence of copy number variants (CNVs). Here we present a genome-wide study of CNV on a cohort of 212...... cases and 437 controls from Denmark, which was genotyped at ∼1.8 million markers, half of which were non-polymorphic copy number markers. No association of common variants were found, whereas analysis of rare variants (present in less than 1% of the samples) initially indicated a single gene...... of rare CNVs related to cell migration (false-discovery rate = 0.021, 1.8% of cases and 1.1% of controls). Dysregulation during migration of primordial germ cells has previously been suspected to be a part of TGCC development and this set of multiple rare variants may thereby have a minor contribution...

  9. Anterior Mediastinal Mass in a Young Marijuana Smoker: A Rare Case of Small-Cell Lung Cancer

    Directory of Open Access Journals (Sweden)

    Jiten P. Kothadia

    2012-01-01

    Full Text Available The use of cannabis is embedded within many societies, mostly used by the young and widely perceived to be safe. Increasing concern regarding the potential for cannabis to cause mental health effects has dominated cannabis research, and the potential adverse respiratory effects have received relatively little attention. We report a rare case of 22-year-old man who presented with bilateral neck lymphadenopathy, fatigue, and sore throat without significant medical or family history. The patient had smoked one marijuana joint three times a week for three years but no cigarettes. Chest CT demonstrated a large anterior mediastinal mass compressing the superior vena cava and mediastinal lymphadenopathy. A final diagnosis of small-cell lung cancer was reached. Although rare, a small-cell lung cancer in this patient should alert the physician that cannabis smoking may be a risk factor for lung cancer.

  10. Anterior mediastinal mass in a young marijuana smoker: a rare case of small-cell lung cancer.

    Science.gov (United States)

    Kothadia, Jiten P; Chhabra, Saurabh; Marcus, Alan; May, Michael; Saraiya, Biren; Jabbour, Salma K

    2012-01-01

    The use of cannabis is embedded within many societies, mostly used by the young and widely perceived to be safe. Increasing concern regarding the potential for cannabis to cause mental health effects has dominated cannabis research, and the potential adverse respiratory effects have received relatively little attention. We report a rare case of 22-year-old man who presented with bilateral neck lymphadenopathy, fatigue, and sore throat without significant medical or family history. The patient had smoked one marijuana joint three times a week for three years but no cigarettes. Chest CT demonstrated a large anterior mediastinal mass compressing the superior vena cava and mediastinal lymphadenopathy. A final diagnosis of small-cell lung cancer was reached. Although rare, a small-cell lung cancer in this patient should alert the physician that cannabis smoking may be a risk factor for lung cancer.

  11. Rare Case of Male Breast Cancer and Axillary Lymphoma in the Same Patient: An Unique Case Report

    Directory of Open Access Journals (Sweden)

    Emiliano Sordi

    2011-01-01

    Full Text Available Breast cancer in men is uncommon, and even more rare is the simultaneous presentation of two different malignancies. A 39-year-old man was diagnosed with both breast cancer and axillary lymphoma. Familiar history revealed that his mother died because of breast cancer. The patient underwent fine needle aspiration leading to the diagnosis of malignant lesion. Modified radical mastectomy was performed. Histology revealed an infiltrating ductal carcinoma 2.8 cm wide, grade 2, with vascular and lymphatic invasion. Surprisingly, one of the second level nodes was confirmed as a high-grade large B cell non-Hodgkin's lymphoma. No family inheritance or gene mutations (BRCA 1 and 2 were found. The patient underwent local radiotherapy, followed by 6 chemotherapy courses (RCHOP and treatment with tamoxifen 20 mg/daily. To our knowledge, this is the first case reported in literature of male breast cancer and axillary lymphoma simultaneously confirmed in the same patient.

  12. Early-Stage Primary Bone Lymphoma: A Retrospective, Multicenter Rare Cancer Network (RCN) Study

    Energy Technology Data Exchange (ETDEWEB)

    Cai Ling [Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, VD (Switzerland); Sun Yat-sen University Cancer Center, Guangzhou, Guangdong (China); Stauder, Michael C. [Mayo Clinic, Rochester, MN (United States); Zhang Yujing [Sun Yat-sen University Cancer Center, Guangzhou, Guangdong (China); Poortmans, Philip [Verbeeten Institute, Tilburg (Netherlands); Li Yexiong [Cancer Hospital, Chinese Academy of Medical Sciences, Beijing (China); Constantinou, Nicolaos [Theagenio Cancer Hospital, Thessaloniki, Macedonia (Greece); Thariat, Juliette [Centre Anti-Cancereux Antoine-Lacassagne, Nice, Cote d' Azur (France); Kadish, Sidney P. [University of Massachusetts Medical School, Worcester, MA (United States); Nguyen, Tan Dat [Institut Jean-Godinot, Reims, Champagne-Ardenne (France); Kirova, Youlia M. [Institut Curie, Paris (France); Ghadjar, Pirus [Inselspital, Bern University Hospital, and University of Bern (Switzerland); Weber, Damien C. [Hopitaux Universitaires de Geneve (Switzerland); Bertran, Victoria Tuset [Hospital Universitari Germans Trias i Pujol, Barcelona (Spain); Ozsahin, Mahmut [Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, VD (Switzerland); Mirimanoff, Rene-Olivier, E-mail: Rene-Olivier.Mirimanoff@chuv.ch [Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, VD (Switzerland)

    2012-05-01

    Purpose: Primary bone lymphoma (PBL) represents less than 1% of all malignant lymphomas. In this study, we assessed the disease profile, outcome, and prognostic factors in patients with Stages I and II PBL. Patients and Methods: Thirteen Rare Cancer Network (RCN) institutions enrolled 116 consecutive patients with PBL treated between 1987 and 2008 in this study. Eighty-seven patients underwent chemoradiotherapy (CXRT) without (78) or with (9) surgery, 15 radiotherapy (RT) without (13) or with (2) surgery, and 14 chemotherapy (CXT) without (9) or with (5) surgery. Median RT dose was 40 Gy (range, 4-60). The median number of CXT cycles was six (range, 2-8). Median follow-up was 41 months (range, 6-242). Results: The overall response rate at the end of treatment was 91% (complete response [CR] 74%, partial response [PR] 17%). Local recurrence or progression was observed in 12 (10%) patients and systemic recurrence in 17 (15%). The 5-year overall survival (OS), lymphoma-specific survival (LSS), and local control (LC) were 76%, 78%, and 92%, respectively. In univariate analyses (log-rank test), favorable prognostic factors for OS and LSS were International Prognostic Index (IPI) score {<=}1 (p = 0.009), high-grade histology (p = 0.04), CXRT (p = 0.05), CXT (p = 0.0004), CR (p < 0.0001), and RT dose >40 Gy (p = 0.005). For LC, only CR and Stage I were favorable factors. In multivariate analysis, IPI score, RT dose, CR, and CXT were independently influencing the outcome (OS and LSS). CR was the only predicting factor for LC. Conclusion: This large multicenter retrospective study confirms the good prognosis of early-stage PBL treated with combined CXRT. An adequate dose of RT and complete CXT regime were associated with better outcome.

  13. Outcome and Prognostic Factors in Endometrial Stromal Tumors: A Rare Cancer Network Study

    Energy Technology Data Exchange (ETDEWEB)

    Schick, Ulrike, E-mail: Ulrike.schick@icr.ac.uk [Department of Radiation Oncology, University Hospital, Geneva (Switzerland); Bolukbasi, Yasmin [Department of Radiation Oncology, Ege University Hospital, Izmir (Turkey); Thariat, Juliette [Department of Radiation Oncology, Antoine Lacassagne Center, Nice (France); Abdah-Bortnyak, Roxolyana; Kuten, Abraham [Department of Radiation Oncology, Rambam Medical Center, Haifa (Israel); Igdem, Sefik [Department of Radiation Oncology, Metropolitan Hospital, Istanbul (Turkey); Caglar, Hale [Department of Radiation Oncology, Marmara University Hospital, Istanbul (Turkey); Ozsaran, Zeynep [Department of Radiation Oncology, Ege University Hospital, Izmir (Turkey); Loessl, Kristina [Department of Radiation Oncology, University Hospital, Bern (Switzerland); Schleicher, Ursula [Department of Radiation Oncology, Dueren Hospital, Dueren (Germany); Zwahlen, Daniel [Department of Radiation Oncology, William Buckland Radiotherapy Centre, Melbourne (Australia); Villette, Sylviane [Department of Radiation Oncology, Rene Huguenin Center, Saint-Cloud (France); Vees, Hansjoerg [Department of Radiation Oncology, University Hospital, Geneva (Switzerland); Department of Radiation Oncology, Sion Hospital, Sion (Switzerland)

    2012-04-01

    Purpose: To provide further understanding regarding outcome and prognostic factors of endometrial stromal tumors (EST). Methods and Materials: A retrospective analysis was performed on the records of 59 women diagnosed with EST and treated with curative intent between 1983 and 2007 in the framework of the Rare Cancer Network. Results: Endometrial stromal sarcomas (ESS) were found in 44% and undifferentiated ESS (UES) in 49% of the cases. In 7% the grading was unclear. Of the total number of patients, 33 had Stage I, 4 Stage II, 20 Stage III, and 1 presented with Stage IVB disease. Adjuvant chemotherapy was administered to 12 patients, all with UES. External-beam radiotherapy (RT) was administered postoperatively to 48 women. The median follow-up was 41.4 months. The 5-year overall survival (OS) rate was 96.2% and 64.8% for ESS and UES, respectively, with a corresponding 5-year disease-free survival (DFS) rate of 49.4% and 43.4%, respectively. On multivariate analysis, adjuvant RT was an independent prognostic factor for OS (p = 0.007) and DFS (p = 0.013). Locoregional control, DFS, and OS were significantly associated with age ({<=}60 vs. >60 years), grade (ESS vs. UES), and International Federation of Gynecology and Obstetrics stage (I-II vs. III-IV). Positive lymph node staging had an impact on OS (p < 0.001). Conclusion: The prognosis of ESS differed from that of UES. Endometrial stromal sarcomas had an excellent 5-year OS, whereas the OS in UES was rather low. However, half of ESS patients had a relapse. For this reason, adjuvant treatment such as RT should be considered even in low-grade tumors. Multicenter randomized studies are still warranted to establish clear guidelines.

  14. A rare case of repeated anastomotic recurrence due to tumor implantation after curative surgery for sigmoid colon cancer

    Directory of Open Access Journals (Sweden)

    Shiokawa Hiroyuki

    2007-08-01

    Full Text Available Abstract Background Anastomotic recurrence is often experienced at colocolic or colorectal anastomoses. Tumor cell implantation has been reported as the mechanism of anastomotic recurrence. However, anastomotic recurrence occurring repeatedly after curative surgery is rare. We herein report a rare case of repeated anastomotic recurrence after curative surgery for sigmoid colon cancer. Case presentation A 51-year-old man underwent radical surgery for sigmoid colon cancer. However, anastomotic recurrence developed three times during three years and six months after the initial operation in spite of irrigation with 5% povidone-iodine before anastomosis. The serum carcinoembryonic antigen (CEA level had been within normal limits after sigmoidectomy. Finally, the patient underwent abdominoperineal resection. The clinico-pathological findings revealed that possible tumor cell implantation caused these anastomotic recurrences. The patients survived without recurrence during the follow-up period of seven years and nine months. Conclusion We experienced a rare case of repeated anastomotic recurrence due to possible tumor implantation after curative surgery for sigmoid colon cancer; however the prognosis was ultimately very good. CEA monitoring was insensitive for detection of anastomotic recurrence in this case.

  15. [Improving the management of rare brain cancers with the POLA network].

    Science.gov (United States)

    Terziev, Robert; Ravin, Mylène; Carpentier, Catherine; Dehais, Caroline

    2014-04-01

    The national POLA network is dedicated to the management of certain rare brain tumours, mainly anaplastic oligodendrogliomas, anaplastic oligoastrocytomas and glioblastomas with oligodendroglioma component. The nursing team and the patient are at the heart of the organisation.

  16. Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk

    DEFF Research Database (Denmark)

    Permuth, Jennifer B; Pirie, Ailith; Ann Chen, Y

    2016-01-01

    that is in LD (r(2 )=( )0.90) with a previously identified 'best hit' (rs7651446) mapping to an intron of TIPARP. Suggestive associations (5.0 × 10 (-)  (5 )>( )P≥5.0 ×10 (-)  (7)) were detected for rare and low-frequency variants at 16 novel loci. Four rare missense variants were identified (ACTBL2 rs73757391...

  17. Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients

    DEFF Research Database (Denmark)

    Christensen, Lise Lotte; Kariola, Reetta; Korhonen, Mari K

    2009-01-01

    Recently, we have performed a population based study to analyse the frequency of colorectal cancer related MLH1 and MSH2 missense mutations in the Danish population. Half of the analyzed mutations were rare and most likely only present in the families where they were identified originally. Some...... of the missense mutations were located in conserved regions in the MLH1 and MSH2 proteins indicating a relation to disease development. In the present study, we functionally characterized 10 rare missense mutations in MLH1 and MSH2 identified in 13 Danish CRC families. To elucidate the pathogenicity...... of the missense mutations, we carried out in vitro functional analyses. The missense mutations were analyzed for their effect on protein expression and repair efficiency. The results of the functional analysis were correlated with clinical data on the families carrying these mutations. Eight missense mutations...

  18. {sup 18F} FDG PET Demonstration of Cancer Recurrence Presenting as Dermatomyositis in a Rare Case of Primary Pleural Lymphoma

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Mi; Kim, Yu Kyeong; Lee, Jong Jin; Lee, Yoon Jong; Kim, Hye Ryung; Choe, Gheeyoung [Seoul National Univ. College of Medicine/Bundang Hospital, Seoul (Korea, Republic of); Lee, Jeong Won [Jeju National Univ. Hospital, Jeju (Korea, Republic of)

    2011-03-15

    Dermatomyositis (DM) or polymyositis (PM) are possibly considered to have an association with malignancies. We describe a case of dermatomyositis in which {sup 18F} fluorodeoxyglucose (FDG)positron emission tomography (PET) was able to detect cancer recurrence earlier than any other modality in a patient with a history of primary pleural lymphoma, a very rare condition of malignancy. Further, a typical finding of dermatomyositis is diffuse hypermetabolism in the bilateral proximal shoulder and pelvic girdle areas was shown on {sup 18F} FDG PET, which can implicate the inflammatory process in the skeletal muscle in dermatomyosistis. This case well illustrates the characteristic {sup 18F} FDG findings of dermatomyositis as well as a capability of {sup 18F} FDG PET in detection of recurrence of lymphoma, even in a rare condition.

  19. A Rare Cause of Acute Kidney Injury in a Female Patient with Breast Cancer Presenting as Renal Colic

    Directory of Open Access Journals (Sweden)

    Roxana Jurubita

    2016-01-01

    Full Text Available Renal infarction is a rare cause of acute kidney injury which could lead to permanent loss of renal function. A prompt diagnosis is necessary in order to achieve a successful revascularization of the occluded artery. Given the rarity of the disease and the paucity of the reported cases in the previous literature a high index of suspicion must be maintained not only in the classical cardiac sources of systemic emboli (atrial fibrillation, dilated cardiomyopathy, or endocarditis, but also in the situations when a hypercoagulable state is presumed. The unspecific presenting symptoms often mask the true etiology of the patient’s complaints. We present here a rare case of renal infarction that occurred in the setting of a hypercoagulable state, in a female patient with a history of breast cancer and documented hepatic metastases.

  20. A Rare Case of BRCA2-Associated Breast Cancer in Pregnancy.

    Science.gov (United States)

    Leidhin, C Nf; Heeney, A; Connolly, C; Swan, N; Foster, A; Geraghty, J

    2015-01-01

    A 30-year old woman was referred to our department with symptomatic breast cancer at 35 weeks gestation. Genetic testing revealed a pathogenic BRCA2 mutation. Labour was induced at 38 weeks. Mastectomy and axillary clearance were performed with a view to adjuvant chemotherapy, radiation and hormonal therapy. Multidisciplinary involvement is crucial for management of BRCA-associated breast cancer, especially in the context of pregnancy. Bilateral mastectomy may be indicated given the increased risk of ipsilateral and contralateral breast cancers. Tamoxifen may lower contralateral breast cancer risk in those in whom risk-reducing surgery is not performed.

  1. PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

    NARCIS (Netherlands)

    M.C. Southey (Melissa); D. Goldgar (David); R. Winqvist (Robert); K. Pykäs (Katri); F.J. Couch (Fergus); M. Tischkowitz (Marc); W.D. Foulkes (William); J. Dennis (Joe); K. Michailidou (Kyriaki); E.J. van Rensburg (Elizabeth); T. Heikkinen (Tuomas); H. Nevanlinna (Heli); J.L. Hopper (John); T. Dörk (Thilo); K.B.M. Claes (Kathleen B.M.); J.S. Reis-Filho (Jorge); Teo, Z.L. (Zhi Ling); P. Radice (Paolo); Catucci, I. (Irene); P. Peterlongo (Paolo); H. Tsimiklis (Helen); F. Odefrey (Fabrice); J.G. Dowty (James); M.K. Schmidt (Marjanka); A. Broeks (Annegien); F.B.L. Hogervorst (Frans); S. Verhoef; T.A. Carpenter (Adrian); C. Clarke (Christine); R.J. Scott (Rodney); P.A. Fasching (Peter); L. Haeberle (Lothar); A.B. Ekici (Arif); M.W. Beckmann (Matthias); J. Peto (Julian); I. dos Santos Silva (Isabel); O. Fletcher (Olivia); Johnson, N. (Nichola); M.K. Bolla (Manjeet K.); Sawyer, E.J. (Elinor J.); I.P. Tomlinson (Ian); M. Kerin (Michael); N. Miller (Nicola); Marme, F. (Federik); B. Burwinkel (Barbara); R. Yang (Rongxi); P. Guénel (Pascal); T. Truong (Thérèse); F. Menegaux (Florence); Sanchez, M. (Marie); S.E. Bojesen (Stig); S.F. Nielsen (Sune); H. Flyger (Henrik); J. Benítez (Javier); M.P. Zamora (Pilar); J.I.A. Perez (Jose Ignacio Arias); P. Menéndez (Primitiva); H. Anton-Culver (Hoda); S.L. Neuhausen (Susan); A. Ziogas (Argyrios); C.A. Clarke (Christina); H. Brenner (Hermann); Arndt, V. (Volker); C. Stegmaier (Christa); H. Brauch (Hiltrud); T. Brüning (Thomas); Y.-D. Ko (Yon-Dschun); Muranen, T.A. (Taru A.); K. Aittomäki (Kristiina); C. Blomqvist (Carl); N.V. Bogdanova (Natalia); Antonenkova, N.N. (Natalia N.); A. Lindblom (Annika); S. Margolin (Sara); A. Mannermaa (Arto); V. Kataja (Vesa); V-M. Kosma (Veli-Matti); J.M. Hartikainen (J.); A.B. Spurdle (Amanda); E. Wauters (Erwin); D. Smeets (Dominiek); B. Beuselinck (B.); O.A.M. Floris; J. Chang-Claude (Jenny); Rudolph, A. (Anja); P. Seibold (Petra); D. Flesch-Janys (Dieter); J.E. Olson (Janet); C. Vachon (Celine); V.S. Pankratz (Shane); C.A. McLean (Catriona Ann); C.A. Haiman (Christopher A.); B.E. Henderson (Brian); F.R. Schumacher (Fredrick R); L. Le Marchand (Loic); V. Kristensen (Vessela); Alnæs, G.G. (Grethe Grenaker); W. Zheng (Wei); D. Hunter (David); S. Lindstrom (Stephen); Hankinson, S.E. (Susan E.); P. Kraft (Peter); I.L. Andrulis (Irene); J.A. Knight (Julia); Glendon, G. (Gord); A.-M. Mulligan (Anna-Marie); A. Jukkola-Vuorinen (Arja); Grip, M. (Mervi); S. Kauppila (Saila); P. Devilee (Peter); R.A.E.M. Tollenaar (Rob); C.M. Seynaeve (Caroline); A. Hollestelle (Antoinette); M. García-Closas (Montserrat); J.D. Figueroa (Jonine); S.J. Chanock (Stephen); J. Lissowska (Jolanta); K. Czene (Kamila); H. Darabi (Hatef); M. Eriksson (Mats); D. Eccles (Diana); M. Rafiq (Meena); W. Tapper (William); S.M. Gerty (Sue); M.J. Hooning (Maartje); J.W.M. Martens (John); J.M. Collée; M.M.A. Tilanus-Linthorst (Madeleine); P. Hall (Per); J. Li (Jingmei); J.S. Brand (Judith S.); K. Humphreys (Keith); A. Cox (Angela); M.W.R. Reed (Malcolm); C. Luccarini (Craig); Baynes, C. (Caroline); A.M. Dunning (Alison); U. Hamann (Ute); D. Torres (Diana); H.U. Ulmer (Hans); T. Rud̈iger (Thomas); A. Jakubowska (Anna); J. Lubinski (Jan); K. Jaworska (Katarzyna); Durda, K. (Katarzyna); S. Slager (Susan); A.E. Toland (Amanda); C.B. Ambrosone (Christine); Yannoukakos, D. (Drakoulis); A.J. Swerdlow (Anthony ); A. Ashworth (Alan); N. Orr (Nick); M. Jones (Michael); A. González-Neira (Anna); G. Pita (G.); M.R. Alonso (M Rosario); N. Álvarez (Nuria); D. Herrero (Daniel); D.C. Tessier (Daniel C.); D. Vincent (Daniel); F. Bacot (Francois); J. Simard (Jacques); M. Dumont (Martine); Soucy, P. (Penny); R. Eeles (Rosalind); K.R. Muir (K.); F. Wiklund (Fredrik); H. Grönberg (Henrik); Schleutker, J. (Johanna); B.G. Nordestgaard (Børge); M. Weischer (Maren); S.P.L. Travis (Simon); D. Neal (David); J. Donovan (Jenny); F. Hamdy (Freddie); K.T. Khaw; Stanford, J.L. (Janet L.); W.J. Blot (William); S.N. Thibodeau (Stephen); D.J. Schaid (D.); Kelley, J.L. (Joseph L.); Maier, C. (Christiane); A. Kibel (Adam); C. Cybulski (Cezary); L.A. Cannon-Albright (Lisa); K. Butterbach (Katja); Park, J. (Jong); R. Kaneva (Radka); Batra, J. (Jyotsna); P.J. Teixeira; Z. Kote-Jarai; A.A. Al Olama (Ali Amin); S. Benlloch (Sara); S.P. Renner (S.); A. Hartmann; Hein, A. (Alexander); Ruebner, M. (Matthias); Lambrechts, D. (Diether); E. Van Nieuwenhuysen (Els); I. Vergote (Ignace); Lambretchs, S. (Sandrina)

    2016-01-01

    textabstractBackground The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with

  2. PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

    NARCIS (Netherlands)

    M.C. Southey (Melissa); D. Goldgar (David); R. Winqvist (Robert); K. Pykäs (Katri); F.J. Couch (Fergus); M. Tischkowitz (Marc); W.D. Foulkes (William); J. Dennis (Joe); K. Michailidou (Kyriaki); E.J. van Rensburg (Elizabeth); T. Heikkinen (Tuomas); H. Nevanlinna (Heli); J.L. Hopper (John); T. Dörk (Thilo); K.B.M. Claes (Kathleen B.M.); J.S. Reis-Filho (Jorge); Teo, Z.L. (Zhi Ling); P. Radice (Paolo); Catucci, I. (Irene); P. Peterlongo (Paolo); H. Tsimiklis (Helen); F. Odefrey (Fabrice); J.G. Dowty (James); M.K. Schmidt (Marjanka); A. Broeks (Annegien); F.B.L. Hogervorst (Frans); S. Verhoef; T.A. Carpenter (Adrian); C. Clarke (Christine); R.J. Scott (Rodney); P.A. Fasching (Peter); L. Haeberle (Lothar); A.B. Ekici (Arif); M.W. Beckmann (Matthias); J. Peto (Julian); I. dos Santos Silva (Isabel); O. Fletcher (Olivia); Johnson, N. (Nichola); M.K. Bolla (Manjeet K.); Sawyer, E.J. (Elinor J.); I.P. Tomlinson (Ian); M. Kerin (Michael); N. Miller (Nicola); Marme, F. (Federik); B. Burwinkel (Barbara); R. Yang (Rongxi); P. Guénel (Pascal); T. Truong (Thérèse); F. Menegaux (Florence); Sanchez, M. (Marie); S.E. Bojesen (Stig); S.F. Nielsen (Sune); H. Flyger (Henrik); J. Benítez (Javier); M.P. Zamora (Pilar); J.I.A. Perez (Jose Ignacio Arias); P. Menéndez (Primitiva); H. Anton-Culver (Hoda); S.L. Neuhausen (Susan); A. Ziogas (Argyrios); C.A. Clarke (Christina); H. Brenner (Hermann); Arndt, V. (Volker); C. Stegmaier (Christa); H. Brauch (Hiltrud); T. Brüning (Thomas); Y.-D. Ko (Yon-Dschun); Muranen, T.A. (Taru A.); K. Aittomäki (Kristiina); C. Blomqvist (Carl); N.V. Bogdanova (Natalia); Antonenkova, N.N. (Natalia N.); A. Lindblom (Annika); S. Margolin (Sara); A. Mannermaa (Arto); V. Kataja (Vesa); V-M. Kosma (Veli-Matti); J.M. Hartikainen (J.); A.B. Spurdle (Amanda); E. Wauters (Erwin); D. Smeets (Dominiek); B. Beuselinck (B.); O.A.M. Floris; J. Chang-Claude (Jenny); Rudolph, A. (Anja); P. Seibold (Petra); D. Flesch-Janys (Dieter); J.E. Olson (Janet); C. Vachon (Celine); V.S. Pankratz (Shane); C.A. McLean (Catriona Ann); C.A. Haiman (Christopher A.); B.E. Henderson (Brian); F.R. Schumacher (Fredrick R); L. Le Marchand (Loic); V. Kristensen (Vessela); Alnæs, G.G. (Grethe Grenaker); W. Zheng (Wei); D. Hunter (David); S. Lindstrom (Stephen); Hankinson, S.E. (Susan E.); P. Kraft (Peter); I.L. Andrulis (Irene); J.A. Knight (Julia); Glendon, G. (Gord); A.-M. Mulligan (Anna-Marie); A. Jukkola-Vuorinen (Arja); Grip, M. (Mervi); S. Kauppila (Saila); P. Devilee (Peter); R.A.E.M. Tollenaar (Rob); C.M. Seynaeve (Caroline); A. Hollestelle (Antoinette); M. García-Closas (Montserrat); J.D. Figueroa (Jonine); S.J. Chanock (Stephen); J. Lissowska (Jolanta); K. Czene (Kamila); H. Darabi (Hatef); M. Eriksson (Mats); D. Eccles (Diana); M. Rafiq (Meena); W. Tapper (William); S.M. Gerty (Sue); M.J. Hooning (Maartje); J.W.M. Martens (John); J.M. Collée; M.M.A. Tilanus-Linthorst (Madeleine); P. Hall (Per); J. Li (Jingmei); J.S. Brand (Judith S.); K. Humphreys (Keith); A. Cox (Angela); M.W.R. Reed (Malcolm); C. Luccarini (Craig); Baynes, C. (Caroline); A.M. Dunning (Alison); U. Hamann (Ute); D. Torres (Diana); H.U. Ulmer (Hans); T. Rud̈iger (Thomas); A. Jakubowska (Anna); J. Lubinski (Jan); K. Jaworska (Katarzyna); Durda, K. (Katarzyna); S. Slager (Susan); A.E. Toland (Amanda); C.B. Ambrosone (Christine); Yannoukakos, D. (Drakoulis); A.J. Swerdlow (Anthony ); A. Ashworth (Alan); N. Orr (Nick); M. Jones (Michael); A. González-Neira (Anna); G. Pita (G.); M.R. Alonso (M Rosario); N. Álvarez (Nuria); D. Herrero (Daniel); D.C. Tessier (Daniel C.); D. Vincent (Daniel); F. Bacot (Francois); J. Simard (Jacques); M. Dumont (Martine); Soucy, P. (Penny); R. Eeles (Rosalind); K.R. Muir (K.); F. Wiklund (Fredrik); H. Grönberg (Henrik); Schleutker, J. (Johanna); B.G. Nordestgaard (Børge); M. Weischer (Maren); S.P.L. Travis (Simon); D. Neal (David); J. Donovan (Jenny); F. Hamdy (Freddie); K.T. Khaw; Stanford, J.L. (Janet L.); W.J. Blot (William); S.N. Thibodeau (Stephen); D.J. Schaid (D.); Kelley, J.L. (Joseph L.); Maier, C. (Christiane); A. Kibel (Adam); C. Cybulski (Cezary); L.A. Cannon-Albright (Lisa); K. Butterbach (Katja); Park, J. (Jong); R. Kaneva (Radka); Batra, J. (Jyotsna); P.J. Teixeira; Z. Kote-Jarai; A.A. Al Olama (Ali Amin); S. Benlloch (Sara); S.P. Renner (S.); A. Hartmann; Hein, A. (Alexander); Ruebner, M. (Matthias); Lambrechts, D. (Diether); E. Van Nieuwenhuysen (Els); I. Vergote (Ignace); Lambretchs, S. (Sandrina); J.A. Doherty (Jennifer A.); M.A. Rossing (Mary Anne); Nickels, S. (Stefan); U. Eilber (Ursula); S. Wang-Gohrke (Shan); K. Odunsi (Kunle); Sucheston-Campbell, L.E. (Lara E.); G. Friel (Grace); G. Lurie (Galina); Killeen, J.L. (Jeffrey L.); L.R. Wilkens (Lynne R.); M.T. Goodman (Marc); I.B. Runnebaum (Ingo); P. Hillemanns (Peter); L.M. Pelttari (Liisa); R. Butzow (Ralf); F. Modugno (Francesmary); R. Edwards (Robert); R.B. Ness (Roberta); K.B. Moysich (Kirsten); Bois, A. (Andreas du); P.U. Heitz; P. Harter (Philipp); Kommoss, S. (Stefan); Karlan, B.Y. (Beth Y.); C.S. Walsh (Christine); K.J. Lester (Kathryn); A. Jensen (Allan); M. Kjaer (Michael); E. Høgdall (Estrid); B. Peissel (Bernard); B. Bonnani (Bernardo); L. Bernard (Loris); E.L. Goode (Ellen); B.L. Fridley (Brooke); R.A. Vierkant (Robert); J.M. Cunningham (Julie); M.C. Larson (Melissa); Fogarty, Z.C. (Zachary C.); Kalli, K.R. (Kimberly R.); D. Liang (Dong); K.H. Lu (Karen); M.A.T. Hildebrandt (Michelle A.T.); X. Wu (Xifeng); D.A. Levine (Douglas); Dao, F. (Fanny); M. Bisogna (Maria); A. Berchuck (Andrew); E. Iversen (Erik); J.R. Marks (Jeffrey); Akushevich, L. (Lucy); D.W. Cramer (Daniel); J.M. Schildkraut (Joellen); K.L. Terry (Kathryn); E.M. Poole (Elizabeth); M.J. Stampfer (Meir J.); Tworoger, S.S. (Shelley S.); E.V. Bandera (Elisa); I. Orlow (Irene); S.H. Olson (Sara); L. Bjorge (Line); H.B. Salvesen (Helga); A.M. van Altena (Anne); K.K.H. Aben (Katja); L.A.L.M. Kiemeney (Bart); L.F. Massuger (Leon); T. Pejovic (Tanja); Y. Bean (Yukie); A. Brooks-Wilson (Angela); L.E. Kelemen (Linda); L.S. Cook (Linda S.); N.D. Le (Nhu D.); B. Górski (Bohdan); J. Gronwald (Jacek); J. Menkiszak (Janusz); C.K. Høgdall (Claus); L. Lundvall (Lene); L. Nedergaard (Lotte); S.A. Engelholm (Svend Aage); E. Dicks (Ed); J.P. Tyrer (Jonathan); I. Campbell (Ian); I. McNeish (Iain); J. Paul (James); N. Siddiqui (Nadeem); R. Glasspool (Rosalind); A.S. Whittemore (Alice); J.H. Rothstein (Joseph H.); W.P. McGuire; W. Sieh (Weiva); H. Cai (Hui); X.-O. Shu (Xiao-Ou); Teten, R.T. (Rachel T.); Sutphen, R. (Rebecca); J. McLaughlin (John); S.A. Narod (Steven A.); C. Phelan (Catherine); A.N.A. Monteiro (Alvaro N.); Fenstermacher, D. (David); Lin, H.-Y. (Hui-Yi); Permuth, J.B. (Jennifer B.); T.A. Sellers (Thomas A.); Chen, Y.A. (Y Ann); Tsai, Y.-Y. (Ya-Yu); Chen, Z. (Zhihua); A. Gentry-Maharaj (Aleksandra); S.A. Gayther (Simon); S.J. Ramus (Susan); U. Menon (Usha); A.H. Wu (Anna); C.L. Pearce (Celeste); D. Van Den Berg (David); M.C. Pike (Malcolm C.); A. Dansonka-Mieszkowska (Agnieszka); J. Plisiecka-Halasa (Joanna); J. Moes-Sosnowska (Joanna); J. Kupryjanczyk (Jolanta); P.D.P. Pharoah (Paul); H. Song (Honglin); I.M. Winship (Ingrid); G. Chenevix-Trench (Georgia); Giles, G.G. (Graham G.); S.V. Tavtigian (Sean); D.F. Easton (Douglas F.); R.L. Milne (Roger)

    2016-01-01

    textabstractBackground The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with

  3. Rare Thyroid Cartilage and Diaphragm Metastases from Lung Cancer Visualized on F-18 FDG-PET/CT Imaging

    Directory of Open Access Journals (Sweden)

    Pelin Özcan Kara

    2011-08-01

    Full Text Available Positron emission tomography (PET with F-18 fluorodeoxyglucose (FDG has evolved as a useful imaging modality in the assessment of a variety of cancers, especially for tumor staging and post treatment monitoring. It provides metabolic information. Although, when used alone, relative lack of anatomic landmarks, is a major limitation of PET imaging, this limitation of PET imaging is overcome by the availability of integrated PET/CT imaging. PET and CT images are acquired in one procedure, yielding fused anatomical and functional data sets. Studies with integrated PET/CT imaging have shown promising results. In this case, we present an interesting integrated PET/CT imaging in a lung cancer patient with rare, diaphragm and thyroid cartilage metastases. (MIRT 2011;20:70-72

  4. Rare-earth doped nanocomposites enable multiscale targeted short-wave infrared imaging of metastatic breast cancer

    Science.gov (United States)

    Pierce, Mark C.; Higgins, Laura M.; Ganapathy, Vidya; Kantamneni, Harini; Riman, Richard E.; Roth, Charles M.; Moghe, Prabhas V.

    2017-02-01

    We are investigating the ability of targeted rare earth (RE) doped nanocomposites to detect and track micrometastatic breast cancer lesions to distant sites in pre-clinical in vivo models. Functionalizing RE nanocomposites with AMD3100 promotes targeting to CXCR4, a recognized marker for highly metastatic disease. Mice were inoculated with SCP-28 (CXCR4 positive) and 4175 (CXCR4 negative) cell lines. Whole animal in vivo SWIR fluorescence imaging was performed after bioluminescence imaging confirmed tumor burden in the lungs. Line-scanning confocal fluorescence microscopy provided high-resolution imaging of RE nanocomposite uptake and native tissue autofluorescence in ex vivo lung specimens. Co-registered optical coherence tomography imaging allowed assessment of tissue microarchitecture. In conclusion, multiscale optical molecular imaging can be performed in pre-clinical models of metastatic breast cancer, using targeted RE-doped nanocomposites.

  5. Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort.

    Directory of Open Access Journals (Sweden)

    Thomas J Hoffmann

    2015-01-01

    Full Text Available An efficient approach to characterizing the disease burden of rare genetic variants is to impute them into large well-phenotyped cohorts with existing genome-wide genotype data using large sequenced referenced panels. The success of this approach hinges on the accuracy of rare variant imputation, which remains controversial. For example, a recent study suggested that one cannot adequately impute the HOXB13 G84E mutation associated with prostate cancer risk (carrier frequency of 0.0034 in European ancestry participants in the 1000 Genomes Project. We show that by utilizing the 1000 Genomes Project data plus an enriched reference panel of mutation carriers we were able to accurately impute the G84E mutation into a large cohort of 83,285 non-Hispanic White participants from the Kaiser Permanente Research Program on Genes, Environment and Health Genetic Epidemiology Research on Adult Health and Aging cohort. Imputation authenticity was confirmed via a novel classification and regression tree method, and then empirically validated analyzing a subset of these subjects plus an additional 1,789 men from Kaiser specifically genotyped for the G84E mutation (r2 = 0.57, 95% CI = 0.37–0.77. We then show the value of this approach by using the imputed data to investigate the impact of the G84E mutation on age-specific prostate cancer risk and on risk of fourteen other cancers in the cohort. The age-specific risk of prostate cancer among G84E mutation carriers was higher than among non-carriers. Risk estimates from Kaplan-Meier curves were 36.7% versus 13.6% by age 72, and 64.2% versus 24.2% by age 80, for G84E mutation carriers and non-carriers, respectively (p = 3.4x10-12. The G84E mutation was also associated with an increase in risk for the fourteen other most common cancers considered collectively (p = 5.8x10-4 and more so in cases diagnosed with multiple cancer types, both those including and not including prostate cancer, strongly suggesting

  6. Imputation of the Rare HOXB13 G84E Mutation and Cancer Risk in a Large Population-Based Cohort

    Science.gov (United States)

    Hoffmann, Thomas J.; Sakoda, Lori C.; Shen, Ling; Jorgenson, Eric; Habel, Laurel A.; Liu, Jinghua; Kvale, Mark N.; Asgari, Maryam M.; Banda, Yambazi; Corley, Douglas; Kushi, Lawrence H.; Quesenberry, Charles P.; Schaefer, Catherine; Van Den Eeden, Stephen K.; Risch, Neil; Witte, John S.

    2015-01-01

    An efficient approach to characterizing the disease burden of rare genetic variants is to impute them into large well-phenotyped cohorts with existing genome-wide genotype data using large sequenced referenced panels. The success of this approach hinges on the accuracy of rare variant imputation, which remains controversial. For example, a recent study suggested that one cannot adequately impute the HOXB13 G84E mutation associated with prostate cancer risk (carrier frequency of 0.0034 in European ancestry participants in the 1000 Genomes Project). We show that by utilizing the 1000 Genomes Project data plus an enriched reference panel of mutation carriers we were able to accurately impute the G84E mutation into a large cohort of 83,285 non-Hispanic White participants from the Kaiser Permanente Research Program on Genes, Environment and Health Genetic Epidemiology Research on Adult Health and Aging cohort. Imputation authenticity was confirmed via a novel classification and regression tree method, and then empirically validated analyzing a subset of these subjects plus an additional 1,789 men from Kaiser specifically genotyped for the G84E mutation (r2 = 0.57, 95% CI = 0.37−0.77). We then show the value of this approach by using the imputed data to investigate the impact of the G84E mutation on age-specific prostate cancer risk and on risk of fourteen other cancers in the cohort. The age-specific risk of prostate cancer among G84E mutation carriers was higher than among non-carriers. Risk estimates from Kaplan-Meier curves were 36.7% versus 13.6% by age 72, and 64.2% versus 24.2% by age 80, for G84E mutation carriers and non-carriers, respectively (p = 3.4×10−12). The G84E mutation was also associated with an increase in risk for the fourteen other most common cancers considered collectively (p = 5.8×10−4) and more so in cases diagnosed with multiple cancer types, both those including and not including prostate cancer, strongly suggesting pleiotropic effects

  7. An Extremely Rare, Remote Intracerebral Metastasis of Oral Cavity Cancer: A Case Report

    OpenAIRE

    Mario Leimert; Juratli, Tareq A.; Claudia Lindner; Kathrin D Geiger; Johannes Gerber; Gabriele Schackert; Matthias Kirsch

    2013-01-01

    Distant brain metastases from oral squamous cell carcinomas (OSCC) are extremely rare. Here we describe a case of a 53-year-old man with a primary OSCC who referred to the neurosurgical department because of epileptic seizures. MR imaging revealed an enhancing lesion in the right parietal lobe. A craniotomy with tumor removing was performed. Histopathological examination verified an invasive, minimally differentiated metastasis of the primary OSCC. The patient refused whole brain radiation t...

  8. Cyclophosphamide and epirubicin-induced diabetes mellitus in breast cancer: A rare occurrence.

    Science.gov (United States)

    Sharma, Pramod Kumar; Misra, Arup Kumar; Singh, Vikram; Gupta, Ajay; Saroha, Shrishti; Singh, Surjit

    2016-01-01

    Breast cancer is the leading cause of death in women. Epirubicin and cyclophosphamide (EC) is one of the chemotherapeutic regimens used for the treatment of breast cancer. We describe a case treated with EC regimen and who presented to us with symptoms suggestive of diabetes mellitus postchemotherapy. Absence of family history of diabetes and normal blood sugar level, prechemotherapy points toward drug-induced hyperglycemia. These chemotherapeutic agents capable of altering immune response and might act synergistically to cause immunological damage to the islets of pancreas which might precipitate diabetes mellitus. Causality analysis on Naranjo's scale indicates a possible association with regimen.

  9. Cyclophosphamide and epirubicin-induced diabetes mellitus in breast cancer: A rare occurrence

    Directory of Open Access Journals (Sweden)

    Pramod Kumar Sharma

    2016-01-01

    Full Text Available Breast cancer is the leading cause of death in women. Epirubicin and cyclophosphamide (EC is one of the chemotherapeutic regimens used for the treatment of breast cancer. We describe a case treated with EC regimen and who presented to us with symptoms suggestive of diabetes mellitus postchemotherapy. Absence of family history of diabetes and normal blood sugar level, prechemotherapy points toward drug-induced hyperglycemia. These chemotherapeutic agents capable of altering immune response and might act synergistically to cause immunological damage to the islets of pancreas which might precipitate diabetes mellitus. Causality analysis on Naranjo′s scale indicates a possible association with regimen.

  10. Rhipsalis (Cactaceae)-like Hierarchical Structure Based Microfluidic Chip for Highly Efficient Isolation of Rare Cancer Cells.

    Science.gov (United States)

    Yan, Shuangqian; Zhang, Xian; Dai, Xiaofang; Feng, Xiaojun; Du, Wei; Liu, Bi-Feng

    2016-12-14

    The circulating tumor cells (CTCs), originating from the primary tumor, play a vital role in cancer diagnosis, prognosis, disease monitoring, and precise therapy. However, the CTCs are extremely rare in the peripheral bloodstream and hard to be isolated. To overcome current limitations associated with CTC capture and analysis, the strategy incorporating nanostructures with microfluidic devices receives wide attention. Here, we demonstrated a three-dimensional microfluidic device (Rm-chip) for capturing cancer cells with high efficiency by integrating a novel hierarchical structure, the "Rhipsalis (Cactaceae)"-like micropillar array, into the Rm-chip. The PDMS micropillar array was fabricated by soft-lithography and rapid prototyping method, which was then conformally plated with a thin gold layer through electroless plating. EpCAM antibody was modified onto the surface of the micropillars through the thiol-oligonucleotide linkers in order to release captured cancer cells by DNase I treatment. The antibody-functionalized device achieved an average capture efficiency of 88% in PBS and 83.7% in whole blood samples. We believe the Rm-chip provided a convenient, economical, and versatile approach for cell analysis with wide potential applications.

  11. Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.

    Science.gov (United States)

    Deb, S; Wong, S Q; Li, J; Do, H; Weiss, J; Byrne, D; Chakrabarti, A; Bosma, T; Fellowes, A; Dobrovic, A; Fox, S B

    2014-12-09

    Male breast cancer (MBC) is still poorly understood with a large proportion arising in families with a history of breast cancer. Genomic studies have focused on germline determinants of MBC risk, with minimal knowledge of somatic changes in these cancers. Using a TruSeq amplicon cancer panel, this study evaluated 48 familial MBCs (3 BRCA1 germline mutant, 17 BRCA2 germline mutant and 28 BRCAX) for hotspot somatic mutations and copy number changes in 48 common cancer genes. Twelve missense mutations included nine PIK3CA mutations (seven in BRCAX patients), two TP53 mutations (both in BRCA2 patients) and one PTEN mutation. Common gains were seen in GNAS (34.1%) and losses were seen in GNAQ (36.4%), ABL1 (47.7%) and ATM (34.1%). Gains of HRAS (37.5% vs 3%, P=0.006), STK11 (25.0% vs 0%, P=0.01) and SMARCB1 (18.8% vs 0%, P=0.04) and the loss of RB1 (43.8% vs 13%, P=0.03) were specific to BRCA2 tumours. This study is the first to perform high-throughput somatic sequencing on familial MBCs. Overall, PIK3CA mutations are most commonly seen, with fewer TP53 and PTEN mutations, similar to the profile seen in luminal A female breast cancers. Differences in mutation profiles and patterns of gene gains/losses are seen between BRCA2 (associated with TP53/PTEN mutations, loss of RB1 and gain of HRAS, STK11 and SMARCB1) and BRCAX (associated with PIK3CA mutations) tumours, suggesting that BRCA2 and BRCAX MBCs may be distinct and arise from different tumour pathways. This has implications on potential therapies, depending on the BRCA status of MBC patients.

  12. Malignant melanoma of the urethra: a rare histologic subdivision of vulvar cancer with a poor prognosis

    OpenAIRE

    Veronika Günther; I. Alkatout; C. Lez; Altarac, S.; Fures, R.; Cupic, H.; Persec, Z.; Hrgovic, Z.; Mundhenke, C

    2012-01-01

    Malignant melanoma of the urethra is a rare tumour that is difficult to diagnose and treat, resulting in a poor prognosis. In this paper, we present the case of a 65-year-old woman who was referred to a gynaecologist because of a urethral mass that mimicked a caruncle. The tumour was removed by local excision, and a pathological analysis revealed a malignant melanoma. Distal urethrectomy was performed after three months with no evidence of residual tumour. There was no evidence of disease at ...

  13. Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families.

    Science.gov (United States)

    Guénard, Frédéric; Labrie, Yvan; Ouellette, Geneviève; Beauparlant, Charles Joly; Bessette, Paul; Chiquette, Jocelyne; Laframboise, Rachel; Lépine, Jean; Lespérance, Bernard; Pichette, Roxane; Plante, Marie; Durocher, Francine

    2007-01-01

    Cowden syndrome is a disease associated with an increase in breast cancer susceptibility. Alleles in PTEN and other breast cancer susceptibility genes would be responsible for approximately 25% of the familial component of breast cancer risk, BRCA1 and BRCA2 being the two major genes responsible for this inherited risk. In order to evaluate the proportion of high-risk French Canadian non-BRCA1/BRCA2 breast/ovarian cancer families potentially harboring a PTEN germline mutation, the whole coding and flanking intronic sequences were analyzed in a series of 98 breast cancer cases. Although no germline mutation has been identified in the coding region, our study led to the identification of four intronic variants. Further investigations were performed to analyze the effect of these variants, alone and/or in combination, on splicing and PTEN protein levels. Despite suggestive evidence emerging from in silico analyses, the presence of these intronic variants do not seem to alter RNA splicing or PTEN protein levels. In addition, as loss of PTEN or part of it has been reported, Western blot analysis has also been performed. No major deletion could be identified in our cohort. Therefore, assuming a Poisson distribution for the frequency of deleterious mutation in our cohort, if the frequency of such deleterious mutation was 2%, we would have had a 90% or greater chance of observing at least one such mutation. These results suggest that PTEN germline mutations are rare and are unlikely to account for a significant proportion of familial breast cancer cases in the French Canadian population.

  14. A Fibroid or Cancer? A Rare Case of Mixed Choriocarcinoma and Epithelioid Trophoblastic Tumour

    Directory of Open Access Journals (Sweden)

    Wan Yu Luk

    2013-01-01

    Full Text Available Background. Gestational trophoblastic disease (GTD is a rare complication of pregnancy which is characterised by abnormal growth of the trophoblasts at the placental site. It is categorised into benign and malignant forms, which include hydatidiform moles (HMs and gestational trophoblastic neoplasia (GTN, respectively. A mixed choriocarcinoma (CC and epithelioid trophoblastic tumour (ETT is an extremely rare subgroup of GTN, which is a highly curable but aggressive form of malignancy. Case. We report a case of mixed CC and ETT in a 41-year-old patient who presented with a 2-year history of menorrhagia and fibroid uterus in the absence of previous history of molar pregnancy. She had a 12-year interval between the antecedent pregnancy and presentation. She was treated with intensive regimen of adjuvant chemotherapy, etoposide, methotrexate, and actinomycin-D with etoposide and cisplatin (EMA-EP. She has remained disease free for more than 5 years. Conclusion. This case highlights the importance of considering GTN as one of the differential diagnoses value of β-HCG in patients presented with menorrhagia and growing fibroids.

  15. Bilateral invasive lobular breast cancer in a female teenager: a rare finding of a common disease - case report and review of literature

    Directory of Open Access Journals (Sweden)

    Ndumbe Peter

    2010-07-01

    Full Text Available Management of cancer patients in low-resource communities presents enormous challenges. Breast cancer is a public health problem in Cameroon and occurs mostly in elderly women. The predominant histological type is a duct carcinoma. Lobular carcinoma in teenagers is rare. In this report we present a case of bilateral invasive lobular carcinoma of the breast that was confirmed on biopsies in a 22-year-old female. We present this rare finding and review the pathological, clinical and radiographic challenges of the disease. Nodules in the breast from patients of any age should be submitted for histology. Public education is beneficial and should be intensified

  16. Bilateral invasive lobular breast cancer in a female teenager: a rare finding of a common disease--case report and review of literature.

    Science.gov (United States)

    Enownchong, Enow-Orock George; Thomas, Egbe Obinchemti; Akum, Achidi Eric; Defang, Asonganyi Etienne; Paul, Ndom; Emmanuel, Fongang; Peter, Ndumbe

    2010-07-19

    Management of cancer patients in low-resource communities presents enormous challenges. Breast cancer is a public health problem in Cameroon and occurs mostly in elderly women. The predominant histological type is a duct carcinoma. Lobular carcinoma in teenagers is rare. In this report we present a case of bilateral invasive lobular carcinoma of the breast that was confirmed on biopsies in a 22-year-old female. We present this rare finding and review the pathological, clinical and radiographic challenges of the disease. Nodules in the breast from patients of any age should be submitted for histology. Public education is beneficial and should be intensified.

  17. Thyroid Gland Metastasis from Cancer of the Uterine Cervix: An Extremely Rare Case Report.

    Science.gov (United States)

    Celik, Suleyman Utku; Besli, Dilara; Sak, Serpil Dizbay; Genc, Volkan

    2016-01-01

    The thyroid gland is a relatively uncommon site for a metastatic disease, although it is richly supplied with blood. The metastases may originate from various primary sites, mainly kidney, lung, head and neck, and breast. Thyroid metastasis from cervical carcinomas is extremely rare; and only a few cases have been previously reported in the literature. In patient with thyroid nodules and an oncological history, the possibility of thyroid metastasis should be seriously considered. Despite the rarity of the metastasis of cervical carcinoma to the thyroid, it is difficult to say appropriate treatment approach for these lesions. When managing such patients, decision-making should balance the possibility of gaining long-term survival against estimation of the aggressiveness of the disease and its possible complications. Here, a case of thyroid metastasis from a squamous cell carcinoma of the uterine cervix presenting with cervical mass and difficulty in swallowing and its treatment is reported.

  18. A literature overview of primary cervical malignant melanoma: an exceedingly rare cancer.

    Science.gov (United States)

    Pusceddu, Sara; Bajetta, Emilio; Carcangiu, Maria Luisa; Formisano, Barbara; Ducceschi, Monika; Buzzoni, Roberto

    2012-02-01

    Primary malignant melanoma (MM) of the uterine cervix is an extremely rare neoplasm, with about 78 cases described in the literature. Since traces of melanocytes in normal cervical epithelium were found in 3.5% of cases primary origin of melanoma at this site cannot be ruled out. It occurs mainly in the sixth decade of life, and it is five time less common than primary vaginal or vulvar MM. Clinical history usually includes abnormal genital bleeding; and physical examination frequently reveals a pigmented, exophytic cervical mass. Diagnosis is confirmed by immuno-histochemical methods and by exclusion of any other primary site of melanoma. Treatment of this condition is not yet standardized, and the overall prognosis is very poor. Diagnostic approaches and therapeutic procedures on primary MM of the uterine cervix are discussed following a review of the literature encompassing more than one century.

  19. Endosalpingiosis of Axillary Lymph Nodes: A Rare Histopathologic Pitfall with Clinical Relevance for Breast Cancer Staging

    Directory of Open Access Journals (Sweden)

    Laila Nomani

    2016-01-01

    Full Text Available Establishment of accurate axillary lymph node status is of essential importance in determining both prognosis and the potential need for adjuvant therapy in patients with invasive breast cancer. Axillary lymph node heterotopias can in some cases result in overdiagnosis of metastatic disease. Nodal endosalpingiosis is perhaps the least commonly reported type of axially lymph node heterotopia. We herein illustrate a case in which second opinion pathologic interpretation combined with ancillary immunohistochemical studies allowed for a specific diagnosis of axillary nodal müllerian-type inclusions, confirming ypN0 staging and resulting in appropriate disease management and prognostication.

  20. Endosalpingiosis of Axillary Lymph Nodes: A Rare Histopathologic Pitfall with Clinical Relevance for Breast Cancer Staging

    Science.gov (United States)

    Nomani, Laila; Calhoun, Benjamin C.; Biscotti, Charles V.; Grobmyer, Stephen R.; Sturgis, Charles D.

    2016-01-01

    Establishment of accurate axillary lymph node status is of essential importance in determining both prognosis and the potential need for adjuvant therapy in patients with invasive breast cancer. Axillary lymph node heterotopias can in some cases result in overdiagnosis of metastatic disease. Nodal endosalpingiosis is perhaps the least commonly reported type of axially lymph node heterotopia. We herein illustrate a case in which second opinion pathologic interpretation combined with ancillary immunohistochemical studies allowed for a specific diagnosis of axillary nodal müllerian-type inclusions, confirming ypN0 staging and resulting in appropriate disease management and prognostication. PMID:27088025

  1. Ontario-wide Cancer TArgeted Nucleic Acid Evaluation

    Science.gov (United States)

    2016-09-14

    Breast Cancer; Lung Cancer; Colorectal Cancer; Melanoma; Gynecological Cancer; Genitourinary Cancer; Pancreatobiliary Cancer; Gastrointestinal Cancer; Head and Neck Cancer; Rare Cancer; Unknown Primary Cancer

  2. Endocervical metastasis of pancreatic cancer: A rare case report of long-term survival

    Directory of Open Access Journals (Sweden)

    Yuichi Kinoshita

    2016-09-01

    Full Text Available Most uterine cervix adenocarcinomas are primary tumors. Here, we report a case of pancreatic cancer that metastasized to the uterine cervix. The patient was a 77-year-old Jehovah's Witness whose pancreatic cancer had been diagnosed 10 years previously. As she had refused blood transfusion on religious grounds, the tumor only underwent segmental excision, followed by radiofrequency wave therapy and chemotherapy. During a routine health examination 6 years after her pancreatic tumor resection, a tumor in the left lower lobe of her lung was found, and then removed. Three years after the lung surgery, her serum CA19-9 increased. A detailed examination found tumors in the ascending colon and uterine cervix. She underwent chemotherapy and radiotherapy after a right hemicolectomy, endocervical biopsy, and endocervical cytology. At present, about 10 years after her initial diagnosis, she is alive with no recurrence or metastatic findings. Morphologically, well-differentiated pancreatic adenocarcinoma is similar to endocervical type adenocarcinoma and adenocarcinoma in situ of the uterine cervix. Therefore, careful immunohistochemical examination and clear understanding of the patient's clinical information are needed in diagnosing adenocarcinoma in the uterine cervix.

  3. Confined trisomy 8 mosaicism of meiotic origin: a rare cause of aneuploidy in childhood cancer.

    Science.gov (United States)

    Valind, Anders; Pal, Niklas; Asmundsson, Jurate; Gisselsson, David; Holmquist Mengelbier, Linda

    2014-07-01

    Whether chromosome abnormalities observed in tumor cells may in some cases reflect low-grade somatic mosaicism for anomalies present already at zygote formation, rather than acquired somatic mutations, has for long remained a speculation. We here report a patient with Wilms tumor, where constitutional somatic mosaicism of trisomy 8 was detected in a previously healthy 2 ½-year-old boy. Single Nucleotide Polymorphism (SNP) array analysis of tumor tissue revealed a complex distribution of allele frequencies for chromosome 8 that could not be explained solely by mitotic events. Combined analysis of allele frequencies, chromosome banding, and fluorescence in situ hybridization revealed that the majority of tumor cells contained four copies of chromosome 8, with three distinct haplotypes at a 2:1:1 ratio. Because the patient had not been subject to organ transplantation, these findings indicated that the tumor karyotype evolved from a cell with trisomy 8 of meiotic origin, with subsequent somatic gain of one additional chromosome copy. Haplotype analysis was consistent with trisomy 8 through nondisjunction at meiosis I. Matched normal renal tissue or peripheral blood did not contain detectable amounts of cells with trisomy 8, consistent with the complete lack of mosaic trisomy 8 syndrome features in the patient. This case provides proof of principle for the hypothesis that tumor genotypes may in rare cases reflect meiotic rather than mitotic events, also in patients lacking syndromic features. © 2014 Wiley Periodicals, Inc.

  4. [Inflammatory pseudopapilloma after recurring aspiration of fruit stones as rare differential diagnosis of bronchogenic cancer].

    Science.gov (United States)

    Walther, J W; Kollmeier, J; De Zeeuw, J; Orth, M; Wiethege, A; Müller, K M; Schultze-Werninghaus, G; Rasche, K

    2002-07-01

    We present the case of a 51-year old man with drug-resistant pneumonia in the upper right lobe, weight loss and a 50-pack year history of cigarette smoking who underwent bronchoscopy. By clinical and radiological findings bronchogenic cancer was assumed. Fiberbronchoscopy showed an exophytic tumor-like mass obliterating the right upper lobe. Biopsies revealed an epithelial pseudopapillomatous tumor with multiple mucosal dysplasia and metaplasia. A second bronchoscopy in order to remove the lesion revealed a foreign body embedded in the tissue which could be removed easily. The foreign body proved to be a cherry stone, after its removal pneumonia resolved completely. In the same patient this lesion was recurrent one year later after aspiration of a grape seed. We present this case to emphasize the relationship between foreign body aspiration and inflammatory pseudopapilloma as a sequela of the inflammatory insult provoked by foreign bodies. Bronchoscopy is mandatory and may obviate misdiagnosis and thoracotomy. The use of inhaled and systemic steroids can be used to facilitate successful endoscopic extraction.

  5. Radiotherapy for marginally resected, unresectable or recurrent giant cell tumor of the bone: a rare cancer network study

    Directory of Open Access Journals (Sweden)

    Robert C. Miller

    2011-10-01

    Full Text Available The role of radiotherapy for local control of marginally resected, unresectable, and recurrent giant cell tumors of bone (GCToB has not been well defined. The number of patients affected by this rare disease is low. We present a series of 58 patients with biopsy proven GCToB who were treated with radiation therapy. A retrospective review of the role of radiotherapy in the treatment of GCToB was conducted in participating institutions of the Rare Cancer Network. Eligibility criteria consisted of the use of radiotherapy for marginally resected, unresectable, and recurrent GCToB. Fifty-eight patients with biopsy proven GCToB were analyzed from 9 participating North American and European institutions. Forty-five patients had a primary tumor and 13 patients had a recurrent tumor. Median radiation dose was 50 Gy in a median of 25 fractions. Indication for radiation therapy was marginal resection in 33 patients, unresectable tumor in 13 patients, recurrence in 9 patients and palliation in 2 patients. Median tumor size was 7.0 cm. A significant proportion of the tumors involved critical structures. Median follow- up was 8.0 years. Five year local control was 85% . Of the 7 local failures, 3 were treated successfully with salvage surgery. All patients who received palliation achieved symptom relief. Five year overall survival was 94%. None of the patients experienced grade 3 or higher acute toxicity. This study reports a large published experience in the treatment of GCToB with radiotherapy. Radiotherapy can provide excellent local control for incompletely resected, unresectable or recurrent GCToB with acceptable morbidity.

  6. Surgical treatment of double primary liver cancer: An observational study for a rare type of tumor.

    Science.gov (United States)

    Li, Aijun; Ma, Senlin; Pawlik, Timothy; Wu, Bin; Yang, Xiaoyu; Cui, Longjiu; Wu, Mengchao

    2016-08-01

    Double primary liver cancer (DPLC) is a special type of clinical situation. As such, a detailed analysis of the surgical management and prognosis of patients with DPLC is lacking. The objective of the current study was to define the management and outcome of patients undergoing surgery for DPLC at a major hepatobiliary center.A total of 87 patients treated by surgical resection at the Eastern Hepatobiliary Surgery Hospital from January 1st, 2007 to October 31st, 2013 who had DPLC demonstrated by final pathological diagnosis were identified. Among these, 50 patients had complete clinical and prognostic data. Demographic and tumor characteristics as well as the prognosis were analyzed.The proportion of hepatitis B surface antigen (HBsAg) (+) and hepatitis B virus e antigen (HBeAg) (+), HBsAg (+), and HBeAg (-) hepatocirrhosis in all patients was 21.84%, 67.82%, and 63.22%, respectively. Incidental findings accounted for 58.62% of patients; among those who had symptoms, the main symptom was abdominal pain (31.03%). Nonanatomic wedge resection was the main operative approach (62.07%). Postoperatively, the main complications included seroperitoneum (11.49%), hypoproteinemia (10.34%), and pleural effusion (8.05%). Factors associated with disease-free survival (DFS) included intrahepatic cholangiocarcinoma (ICC) tumor size (P = 0.002) and use of postoperative prophylactic transcatheter arterial chemoembolization (TACE) treatment (P = 0.015). Meanwhile, hepatocellular carcinoma (HCC) size (P = 0.045), ICC size (P < 0.001), and liver function (including aspartate aminotransferase [P = 0.001] and r-glutamyl transferase [P < 0.001]) were associated with overall survival (OS).Hepatitis B virus (HBV)-related hepatitis or cirrhosis is also an important factor in the pathogenesis of DPLC and surgical treatment is safe for it with low complication rates. In addition, it is effective to prolong DFS that DPLC patients undergo postoperative prophylactic TACE

  7. Systemic BCG-Osis as a Rare Side Effect of Intravesical BCG Treatment for Superficial Bladder Cancer

    Directory of Open Access Journals (Sweden)

    S. Lukacs

    2013-01-01

    Full Text Available Intravesical Bacilli Calmette-Guérin (BCG immunotherapy is a commonly used treatment for superficial bladder cancer. Although the treatment is well tolerated in 95% of cases, life-threatening side effects including BCG sepsis can occur. This report describes the case of an 82-year-old man with a background of lung disease. He developed septic shock and type two respiratory failure after receiving the sixth installation of intravesical BCG (TICE strain immunotherapy for recurrent bladder Transitional Cell Carcinoma in situ. Despite the early initiation of broad spectrum antibiotics (tazocin and gentamicin, he remained pyrexial. There was a rapid deterioration, and on the second day of his admission, he developed type two respiratory failure secondary to Acute Respiratory Distress Syndrome (ARDS prompting transfer to Intensive Care for Bilevel Positive Airway Pressure (BiPAP Ventilation. The blood cultures taken before the induction of antibiotics results were negative. Increasing clinical suspicion of systemic BCG-osis prompted the initiation of antituberculosis therapy (ethambutol, isoniazid rifampicin and steroids. Following six days of BiPAP and anti-tuberculosis therapy in ITU, his condition started to improve. Following a prolonged hospital stay he was discharged on long term ethambutol therapy. BCG-osis is a well-known though rare side effect of intravesical BCG therapy. We would like to highlight the importance of having a low threshold for starting anti-TB treatment.

  8. A rare presentation of locally re-recurrent colon cancer involving the iliac bone and a review of the literature.

    Science.gov (United States)

    Schumacher, Andrew; Babikir, Osman Mahdi; Abboud, Amer; Theodorakis, Spyridon

    2014-10-29

    Colorectal cancer is a leading cause of cancer death in the USA. While locally advanced rectal cancer involving bone has been described extensively, colon cancer locally involving bone has only been described, to our knowledge, in a single case report. In this case report, we describe the presentation and treatment of locally advanced re-recurrent colon cancer involving the iliac bone. We also discuss the available literature on treatment for recurrent and re-recurrent colorectal cancer.

  9. Primary Mucosa-Associated Lymphoid Tissue Lymphoma of the Salivary Glands: A Multicenter Rare Cancer Network Study

    Energy Technology Data Exchange (ETDEWEB)

    Anacak, Yavuz, E-mail: yavuz.anacak@ege.edu.tr [Department of Radiation Oncology, Ege University Medical School, Izmir (Turkey); Miller, Robert C. [Department of Radiation Oncology, Mayo Clinic, Rochester, MN (United States); Constantinou, Nikos [Department of Hematology, Theagenion Cancer Center, Thessaloniki (Greece); Mamusa, Angela M. [Division of Hematology, Armando Businco Cancer Center, Cagliari (Italy); Epelbaum, Ron [Department of Oncology, Rambam Medical Center, Haifa (Israel); Li Yexiong [Department of Radiation Oncology, Cancer Hospital of Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Calduch, Anna Lucas [Servicio de Oncologia Radioterapica, Institut Catala d' Oncologia, Barcelona (Spain); Kowalczyk, Anna [Department of Oncology and Radiotherapy, Medical University of Gdansk (Poland); Weber, Damien C. [Department of Radiation Oncology, Geneva University Hospital (Switzerland); Kadish, Sidney P. [Department of Radiation Oncology, University of Massachusetts Medical School/Center, North Worcester, MA (United States); Bese, Nuran [Department of Radiation Oncology, Istanbul University Cerrahpasa Medical School, Istanbul (Turkey); Poortmans, Philip [Institute Verbeeten, Tilburg (Netherlands); Kamer, Serra [Department of Radiation Oncology, Ege University Medical School, Izmir (Turkey); Ozsahin, Mahmut [Department of Radiation Oncology, Centre Hospitalier Universitaire Vaudois, Lausanne (Switzerland)

    2012-01-01

    Purpose: Involvement of salivary glands with mucosa-associated lymphoid tissue (MALT) lymphoma is rare. This retrospective study was performed to assess the clinical profile, treatment outcome, and prognostic factors of MALT lymphoma of the salivary glands. Methods and Materials: Thirteen member centers of the Rare Cancer Network from 10 countries participated, providing data on 63 patients. The median age was 58 years; 47 patients were female and 16 were male. The parotid glands were involved in 49 cases, submandibular in 15, and minor glands in 3. Multiple glands were involved in 9 patients. Staging was as follows: IE in 34, IIE in 12, IIIE in 2, and IV in 15 patients. Results: Surgery (S) alone was performed in 9, radiotherapy (RT) alone in 8, and chemotherapy (CT) alone in 4 patients. Forty-one patients received combined modality treatment (S + RT in 23, S + CT in 8, RT + CT in 4, and all three modalities in 6 patients). No active treatment was given in one case. After initial treatment there was no tumor in 57 patients and residual tumor in 5. Tumor progression was observed in 23 (36.5%) (local in 1, other salivary glands in 10, lymph nodes in 11, and elsewhere in 6). Five patients died of disease progression and the other 5 of other causes. The 5-year disease-free survival, disease-specific survival, and overall survival were 54.4%, 93.2%, and 81.7%, respectively. Factors influencing disease-free survival were use of RT, stage, and residual tumor (p < 0.01). Factors influencing disease-specific survival were stage, recurrence, and residual tumor (p < 0.01). Conclusions: To our knowledge, this report represents the largest series of MALT lymphomas of the salivary glands published to date. This disease may involve all salivary glands either initially or subsequently in 30% of patients. Recurrences may occur in up to 35% of patients at 5 years; however, survival is not affected. Radiotherapy is the only treatment modality that improves disease-free survival.

  10. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

    NARCIS (Netherlands)

    Gudmundsson, J.; Sulem, P.; Gudbjartsson, D.F.; Masson, G.; Agnarsson, B.A.; Benediktsdottir, K.R.; Sigurdsson, A.; Magnusson, O.T.; Gudjonsson, S.A.; Magnusdottir, D.N.; Johannsdottir, H.; Helgadottir, H.T.; Stacey, S.N.; Jonasdottir, A.; Olafsdottir, S.B.; Thorleifsson, G.; Jonasson, J.G.; Tryggvadottir, L.; Navarrete, S.; Fuertes, F.; Helfand, B.T.; Hu, Q.; Csiki, I.E.; Mates, I.N.; Jinga, V.; Aben, K.K.H.; Oort, I.M. van; Vermeulen, S.; Donovan, J.L.; Hamdy, F.C.; Ng, C.F.; Chiu, P.K.; Lau, K.M.; Ng, M.C.; Gulcher, J.R.; Kong, A.; Catalona, W.J.; Mayordomo, J.I.; Einarsson, G.V.; Barkardottir, R.B.; Jonsson, E.; Mates, D.; Neal, D.E.; Kiemeney, L.A.L.M.; Thorsteinsdottir, U.; Rafnar, T.; Stefansson, K.

    2012-01-01

    In Western countries, prostate cancer is the most prevalent cancer of men and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerous common variants conferring risk of prostate cancer. Here, we analyzed 32.5 million variants discovered

  11. Periampullary mass--a rare presentation of poorly differentiated neuroendocrine cancer of duodenum in a young adult: a case report and review of literature.

    Science.gov (United States)

    Singh, Neha; Nayak, Hemanta K; Bagchi, Avishek; Kar, Premashis

    2012-10-09

    Poorly differentiated neuroendocrine tumour in the periampullary region of the duodenum is a rare entity. This entity usually present in old men. Here we report a periampullary poorly differentiated neuroendocrine cancer (PDEC) of duodenum presenting in a young man with subacute history of jaundice, abdominal pain, pancreatitis and constitutional symptoms. MRI localised the tumour and endoscopy-guided biopsy of the lesion proved the diagnosis. Although palliative surgery and chemotherapy were planned, the patient opted to leave against medical advice.

  12. Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations | Office of Cancer Genomics

    Science.gov (United States)

    Large-scale sequencing efforts are uncovering the complexity of cancer genomes, which are composed of causal "driver" mutations that promote tumor progression along with many more pathologically neutral "passenger" events. The majority of mutations, both in known cancer drivers and uncharacterized genes, are generally of low occurrence, highlighting the need to functionally annotate the long tail of infrequent mutations present in heterogeneous cancers.

  13. Neurofibromatosis with male breast cancer--risk factor or co-incidence? Report of two rare cases.

    Science.gov (United States)

    Tandon, Megha; Panwar, Pankaj; Garg, Praveen; Chintamani; Siraj, Fauzia

    2015-01-01

    The genetic link between neurofibromatosis and breast cancer has recently intrigued the researchers and breast practitioners alike. While the association is well established in females, the same cannot be said for the male breast cancer due to paucity of cases. With only two cases reported previously, our knowledge is sparse. We hereby report two cases of male breast cancer with neurofibromatosis.

  14. Small Cell Carcinoma of the Urinary Bladder: A Retrospective, Multicenter Rare Cancer Network Study of 107 Patients

    Energy Technology Data Exchange (ETDEWEB)

    Pasquier, David, E-mail: d-pasquier@o-lambret.fr [Academic Radiation Oncology Department, Centre Oscar Lambret, Lille (France); Barney, Brandon [Mayo Clinic, Rochester, Minnesota (United States); Sundar, Santhanam [Department of Oncology, Nottingham University Hospitals National Health Service Trust, Nottingham (United Kingdom); Poortmans, Philip [Department of Radiation Oncology, Radboud university medical center, Nijmegen (Netherlands); Villa, Salvador [Radiation Oncology, Catalan Institute of Oncology, H. Universitari Germans Trías, Badalona, Barcelona (Spain); Nasrallah, Haitam [Division of Oncology, Rambam Health Care Campus and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa (Israel); Boujelbene, Noureddine [Department of Radiation Oncology, Centre Hospitalier Universitaire Vaudois, Lausanne (Switzerland); Ghadjar, Pirus [Department of Radiation Oncology, Bern University Hospital, Bern (Switzerland); Lassen-Ramshad, Yasmin [Department of Oncology, Aarhus University Hospital, Aarhus (Denmark); Senkus, Elżbieta [Department of Oncology and Radiotherapy, Medical University of Gdansk, Gdansk (Poland); Oar, Andrew [Genesis Cancer Care, Southport (Australia); Roelandts, Martine [Institut Jules Bordet, Brussels (Belgium); Amichetti, Maurizio [Provincial Agency for Proton Therapy, Trento (Italy); Vees, Hansjoerg [Department of Radiation Oncology, Hopital de Sion, Sion (Switzerland); Zilli, Thomas [Department of Radiation Oncology, Geneva University Hospital, Geneva (Switzerland); Ozsahin, Mahmut [Department of Radiation Oncology, Centre Hospitalier Universitaire Vaudois, Lausanne (Switzerland)

    2015-07-15

    Purpose: Small cell carcinomas of the bladder (SCCB) account for fewer than 1% of all urinary bladder tumors. There is no consensus regarding the optimal treatment for SCCB. Methods and Materials: Fifteen academic Rare Cancer Network medical centers contributed SCCB cases. The eligibility criteria were as follows: pure or mixed SCC; local, locoregional, and metastatic stages; and age ≥18 years. The overall survival (OS) and disease-free survival (DFS) were calculated from the date of diagnosis according to the Kaplan-Meier method. The log-rank and Wilcoxon tests were used to analyze survival as functions of clinical and therapeutic factors. Results: The study included 107 patients (mean [±standard deviation, SD] age, 69.6 [±10.6] years; mean follow-up time, 4.4 years) with primary bladder SCC, with 66% of these patients having pure SCC. Seventy-two percent and 12% of the patients presented with T2-4N0M0 and T2-4N1-3M0 stages, respectively, and 16% presented with synchronous metastases. The most frequent curative treatments were radical surgery and chemotherapy, sequential chemotherapy and radiation therapy, and radical surgery alone. The median (interquartile range, IQR) OS and DFS times were 12.9 months (IQR, 7-32 months) and 9 months (IQR, 5-23 months), respectively. The metastatic, T2-4N0M0, and T2-4N1-3M0 groups differed significantly (P=.001) in terms of median OS and DFS. In a multivariate analysis, impaired creatinine clearance (OS and DFS), clinical stage (OS and DFS), a Karnofsky performance status <80 (OS), and pure SCC histology (OS) were independent and significant adverse prognostic factors. In the patients with nonmetastatic disease, the type of treatment (ie radical surgery with or without adjuvant chemotherapy vs conservative treatment) did not significantly influence OS or DFS (P=.7). Conclusions: The prognosis for SCCB remains poor. The finding that radical cystectomy did not influence DFS or OS in the patients with nonmetastatic disease

  15. Myelomatous pleural effusion: A rare case entity reported from a tertiary care cancer center in South India

    Directory of Open Access Journals (Sweden)

    Govind K Babu

    2017-01-01

    Full Text Available Multiple myeloma (MM is a plasma cell neoplasm and constitutes 10% of hematologic malignancies. Malignant myelomatous pleural effusions are very rare and occur in <1% of cases of MM. In this article, we report a rare case of a patient who initially presented with pleural effusion and was subsequently found to be secondary to MM with an underlying raised IgG paraprotein. The patient symptomatically improved and was in partial remission with palliative radiotherapy, VTD chemotherapy, and bisphosphonates.

  16. PALB2, CHEK2 and ATM rare variants and cancer risk

    DEFF Research Database (Denmark)

    Southey, Melissa C; Goldgar, David E; Winqvist, Robert

    2016-01-01

    2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G......>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. RESULTS: For European women......, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10(-5)), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10(-8)) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast...

  17. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

    Directory of Open Access Journals (Sweden)

    Ella R Thompson

    2012-09-01

    Full Text Available Despite intensive efforts using linkage and candidate gene approaches, the genetic etiology for the majority of families with a multi-generational breast cancer predisposition is unknown. In this study, we used whole-exome sequencing of thirty-three individuals from 15 breast cancer families to identify potential predisposing genes. Our analysis identified families with heterozygous, deleterious mutations in the DNA repair genes FANCC and BLM, which are responsible for the autosomal recessive disorders Fanconi Anemia and Bloom syndrome. In total, screening of all exons in these genes in 438 breast cancer families identified three with truncating mutations in FANCC and two with truncating mutations in BLM. Additional screening of FANCC mutation hotspot exons identified one pathogenic mutation among an additional 957 breast cancer families. Importantly, none of the deleterious mutations were identified among 464 healthy controls and are not reported in the 1,000 Genomes data. Given the rarity of Fanconi Anemia and Bloom syndrome disorders among Caucasian populations, the finding of multiple deleterious mutations in these critical DNA repair genes among high-risk breast cancer families is intriguing and suggestive of a predisposing role. Our data demonstrate the utility of intra-family exome-sequencing approaches to uncover cancer predisposition genes, but highlight the major challenge of definitively validating candidates where the incidence of sporadic disease is high, germline mutations are not fully penetrant, and individual predisposition genes may only account for a tiny proportion of breast cancer families.

  18. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.

    Science.gov (United States)

    Gudmundsson, Julius; Sulem, Patrick; Gudbjartsson, Daniel F; Masson, Gisli; Agnarsson, Bjarni A; Benediktsdottir, Kristrun R; Sigurdsson, Asgeir; Magnusson, Olafur Th; Gudjonsson, Sigurjon A; Magnusdottir, Droplaug N; Johannsdottir, Hrefna; Helgadottir, Hafdis Th; Stacey, Simon N; Jonasdottir, Adalbjorg; Olafsdottir, Stefania B; Thorleifsson, Gudmar; Jonasson, Jon G; Tryggvadottir, Laufey; Navarrete, Sebastian; Fuertes, Fernando; Helfand, Brian T; Hu, Qiaoyan; Csiki, Irma E; Mates, Ioan N; Jinga, Viorel; Aben, Katja K H; van Oort, Inge M; Vermeulen, Sita H; Donovan, Jenny L; Hamdy, Freddy C; Ng, Chi-Fai; Chiu, Peter K F; Lau, Kin-Mang; Ng, Maggie C Y; Gulcher, Jeffrey R; Kong, Augustine; Catalona, William J; Mayordomo, Jose I; Einarsson, Gudmundur V; Barkardottir, Rosa B; Jonsson, Eirikur; Mates, Dana; Neal, David E; Kiemeney, Lambertus A; Thorsteinsdottir, Unnur; Rafnar, Thorunn; Stefansson, Kari

    2012-12-01

    In Western countries, prostate cancer is the most prevalent cancer of men and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerous common variants conferring risk of prostate cancer. Here, we analyzed 32.5 million variants discovered by whole-genome sequencing 1,795 Icelanders. We identified a new low-frequency variant at 8q24 associated with prostate cancer in European populations, rs188140481[A] (odds ratio (OR) = 2.90; P(combined) = 6.2 × 10(-34)), with an average risk allele frequency in controls of 0.54%. This variant is only very weakly correlated (r(2) ≤ 0.06) with previously reported risk variants at 8q24, and its association remains significant after adjustment for all known risk-associated variants. Carriers of rs188140481[A] were diagnosed with prostate cancer 1.26 years younger than non-carriers (P = 0.0059). We also report results for a previously described HOXB13 variant (rs138213197[T]), confirming it as a prostate cancer risk variant in populations from across Europe.

  19. Intracystic papillary carcinoma in a male as a rare presentation of breast cancer: a case report and literature review.

    LENUS (Irish Health Repository)

    Romics, Laszlo

    2009-01-01

    The term "intracystic papillary ductal carcinoma in situ" has recently changed and is now more appropriately referred to "intracystic papillary carcinoma". Intracystic papillary carcinoma in men is an extremely rare disease with only a few case presentations published in the literature so far.

  20. Cortical Blindness due to Bilateral Occipital Infarcts in a Renal Failure Patient with Prostate Cancer: A Rare Complication of Hemodialysis

    Directory of Open Access Journals (Sweden)

    O. G. Doluoglu

    2013-01-01

    Full Text Available Loss of vision is a rare complication seen in hemodialysis patients. It is thought to develop because of the hypotension that can be observed during dialysis. This paper involves a patient with acute loss of vision during hemodialysis due to bilateral occipital infarcts.

  1. Lung cancer mortality among the miners in a rare-earth iron mine; La mortalite par cancer du poumon chez les mineurs d'une mine de terres-rares et de fer

    Energy Technology Data Exchange (ETDEWEB)

    Xing-An, C.; Yong-E, C. [National Institute for Radiological Protection, Chinese Center for Disease Control and Prevention, Beijing, P.R. (China)

    2008-07-15

    An epidemiology study on lung cancer mortality of the dust-exposed miners and dust-unexposed miners (controls) was performed in 2001. It was found that, during the period from 1977 to March 2001, 27 cases of lung cancers were observed in the dust-exposed miners, while 8 cases of lung cancers were found in controls. The S.M.R. of them were 6.13 and 1.90 respectively. The S.M.R. of the dust-exposed miners was much higher than that of the controls. The difference between the two S.M.R. is very significant ({chi}{sup 2} = 9.488, P < 0.005). The probability that 27 or more lung cancers would occur in the dust-exposed group, given the expected numbers and that a total of 35 occurred is 0.0015. The high S.M.R. for lung cancers among dust-exposed miners likely resulted from the inhaled thorium-containing dusts (carcinogens are ThO{sub 2} and SiO{sub 2}) and its short lived thoron progeny. This is the first evidence in humans of the carcinogenicity after long-term inhalation of thorium-containing dusts and thoron progeny. The total person-years of observation of the dust exposed miners and the unexposed miners were 62 712 and 34 672 respectively. (author)

  2. The Challenge of Cancer Genomics in Rare Nervous System Neoplasms: Malignant Peripheral Nerve Sheath Tumors as a Paradigm for Cross-Species Comparative Oncogenomics.

    Science.gov (United States)

    Carroll, Steven L

    2016-03-01

    Comprehensive genomic analyses of common nervous system cancers provide new insights into their pathogenesis, diagnosis, and treatment. Although analogous studies of rare nervous system tumors are needed, there are major barriers to performing such studies. Cross-species comparative oncogenomics, identifying driver mutations in mouse cancer models and validating them in human tumors, is a promising alternative. Although still in its infancy, this approach is being applied to malignant peripheral nerve sheath tumors (MPNSTs), rare Schwann cell-derived malignancies that occur sporadically, after radiotherapy, and in neurofibromatosis type 1. Studies of human neurofibromatosis type 1-associated tumors suggest that NF1 tumor suppressor loss in Schwann cells triggers cell-autonomous and intercellular changes, resulting in development of benign neurofibromas; subsequent neurofibroma-MPNST progression is caused by aberrant growth factor signaling and mutations affecting the p16(INK4A)-cyclin D1-CDK4-Rb and p19(ARF)-Mdm2-p53 cell cycle pathways. Mice with Nf1, Trp53, and/or Cdkn2a mutations that overexpress the Schwann cell mitogen neuregulin-1 or overexpress the epidermal growth factor receptor validate observations in human tumors and, to various degrees, model human tumorigenesis. Genomic analyses of MPNSTs arising in neuregulin-1 and epidermal growth factor receptor-overexpressing mice and forward genetic screens with Sleeping Beauty transposons implicate additional signaling cascades in MPNST pathogenesis. These studies confirm the utility of mouse models for MPNST driver gene discovery and provide new insights into the complexity of MPNST pathogenesis.

  3. Fine-mapping the HOXB region detects common variants tagging a rare coding allele: evidence for synthetic association in prostate cancer.

    Directory of Open Access Journals (Sweden)

    Edward J Saunders

    2014-02-01

    Full Text Available The HOXB13 gene has been implicated in prostate cancer (PrCa susceptibility. We performed a high resolution fine-mapping analysis to comprehensively evaluate the association between common genetic variation across the HOXB genetic locus at 17q21 and PrCa risk. This involved genotyping 700 SNPs using a custom Illumina iSelect array (iCOGS followed by imputation of 3195 SNPs in 20,440 PrCa cases and 21,469 controls in The PRACTICAL consortium. We identified a cluster of highly correlated common variants situated within or closely upstream of HOXB13 that were significantly associated with PrCa risk, described by rs117576373 (OR 1.30, P = 2.62×10(-14. Additional genotyping, conditional regression and haplotype analyses indicated that the newly identified common variants tag a rare, partially correlated coding variant in the HOXB13 gene (G84E, rs138213197, which has been identified recently as a moderate penetrance PrCa susceptibility allele. The potential for GWAS associations detected through common SNPs to be driven by rare causal variants with higher relative risks has long been proposed; however, to our knowledge this is the first experimental evidence for this phenomenon of synthetic association contributing to cancer susceptibility.

  4. Rare Power

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    China begins to reinvigorate the rare earth industry after decades of underselling the valuable metals On May 19,the State Council released Guidelines to Promote Sustainable and Sound Development of the Rare Earth Industry,delivering a strong boost to the fragmented industry.

  5. Rare Security

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    China’s regulation on rare earth accords with WTO rules Worries abound Western countries may use a recent WTO ruling on China’s exports restriction on nine raw materials to launch actions against China’s curbs on rare earth exports.

  6. Fournier gangrene with extensive necrosis of urethra and bladder mucosa: A rare occurrence in a patient with advanced prostate cancer

    OpenAIRE

    Paonam, Somorendro S.; Sananda Bag

    2015-01-01

    Fournier gangrene (FG) is polymicrobial necrotizing infection of subcutaneous tissues and deep fascia, commonly involving the perineum, external genitalia, anterior abdominal wall and medial aspect of thighs. Urethral pathology, although often the inciting factor for FG, extensive involvement with urethral necrosis is very rare. This is the first report in English literature, describing complete sloughing of the bulbar urethra with ischemic necrosis of the bladder mucosa from FG. Such extensi...

  7. Cancer

    Science.gov (United States)

    ... cancer Non-Hodgkin lymphoma Ovarian cancer Pancreatic cancer Testicular cancer Thyroid cancer Uterine cancer Symptoms Symptoms of cancer ... tumor Obesity Pancreatic cancer Prostate cancer Stomach cancer Testicular cancer Throat or larynx cancer Thyroid cancer Patient Instructions ...

  8. NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing.

    Science.gov (United States)

    Chang, Pi-Yueh; Chen, Jinn-Shiun; Chang, Nai-Chung; Chang, Shih-Cheng; Wang, Mei-Chia; Tsai, Shu-Hui; Wen, Ying-Hao; Tsai, Wen-Sy; Chan, Err-Cheng; Lu, Jang-Jih

    2016-06-21

    Colorectal cancer (CRC) arises from mutations in a subset of genes. We investigated the germline and somatic mutation spectrum of patients with CRC in Taiwan by using the AmpliSeq Cancer Hotspot Panel V2. Fifty paired freshly frozen stage 0-IV CRC tumors and adjacent normal tissue were collected. Blood DNA from 20 healthy donors were used for comparison of germline mutations. Variants were identified using an ion-torrent personal genomic machine and subsequently confirmed by Sanger sequencing or pyrosequencing. Five nonsynonymous germline variants on 4 cancer susceptible genes, CDH1, APC, MLH1, and NRAS, were observed in 6 patients with CRC (12%). Among them, oncogene NRAS G138R variant was identified as having a predicted damaging effect on protein function, which has never been reported by other laboratories. CDH1 T340A variants were presented in 3 patients. The germline variants in the cancer patients differed completely from those found in asymptomatic controls. Furthermore, a total of 56 COSMIC and 21 novel somatic variants distributed in 20 genes were detected in 44 (88%) of the CRC samples. High inter- and intra-tumor heterogeneity levels were observed. Nine rare variants located in the β-catenin binding region of the APC gene were discovered, 7 of which could cause amino acid frameshift and might have a pathogenic effect. In conclusion, panel-based mutation detection by using a high-throughput sequencing platform can elucidate race-dependent cancer genomes. This approach facilitates identifying individuals at high risk and aiding the recognition of novel mutations as targets for drug development.

  9. Fournier gangrene with extensive necrosis of urethra and bladder mucosa: A rare occurrence in a patient with advanced prostate cancer

    Directory of Open Access Journals (Sweden)

    Somorendro S Paonam

    2015-01-01

    Full Text Available Fournier gangrene (FG is polymicrobial necrotizing infection of subcutaneous tissues and deep fascia, commonly involving the perineum, external genitalia, anterior abdominal wall and medial aspect of thighs. Urethral pathology, although often the inciting factor for FG, extensive involvement with urethral necrosis is very rare. This is the first report in English literature, describing complete sloughing of the bulbar urethra with ischemic necrosis of the bladder mucosa from FG. Such extensive disease is associated with high mortality, despite higher antibiotics, through debridement and intensive care. Urethral involvement needs extensive debridement and temporary or permanent urinary diversion.

  10. Immunoexpression of TTF-1 and Ki-67 in a coexistent anaplastic and follicular thyroid cancer with rare long-life surviving.

    Directory of Open Access Journals (Sweden)

    Jerzy Sowinski

    2009-01-01

    Full Text Available We report the immunohistochemical diagnosis, including TTF-1 (thyroid transcription factor 1 and Ki-67, of a rare mixed thyroid neoplasm composed of minimally invasive well differentiated follicular areas and highly aggressive undifferentiated anaplastic areas. A 75 old female presented to our clinic with a rapidly growing neck mass. Considering the dynamics of the disease and the multiple challenges presented by the patient: advanced age, tumor size, history of a longstanding goiter we decided to transfer her to the department of surgery. The intraoperative findings were an enlarged right lobe with tracheal and surrounding tissues infiltration. Total thyroidectomy, radical neck lymph nodes dissection and tracheostomy were performed. The histopathological and immunohistochemical examination revealed a coexistent anaplastic and follicular thyroid carcinoma. The proliferation index Ki-67, a cell proliferation marker, was found to be significantly higher in the anaplastic areas (30 +/- 5% in the comparison with the follicular areas (2 +/- 1%. The evaluation of the thyroid transcription factor 1 (TTF-1 expression revealed a correlation with the tumor cells aggressiveness accordingly to the cancer areas. After a radical surgery an external adjuvant radiation was applied. The patient is alive and more than five years after diagnosis she presented an increase of the serum thyroglobulin level suggesting, probably, a recurrence of the follicular form of the cancer. According to our survey we suggest that in thyroid cancers TTF-1 and Ki-67 could provides useful information on the differentiation activities of thyroid tumor cells and may be helpful to distinguish well differentiated and undifferentiated areas in a mixed thyroid cancer.

  11. Nanoceria: a rare-earth nanoparticle as a novel anti-angiogenic therapeutic agent in ovarian cancer.

    Directory of Open Access Journals (Sweden)

    Shailendra Giri

    Full Text Available Ovarian cancer (OvCa is the fifth most common cause of death from all cancers among women in United Sates and the leading cause of death from gynecological malignancies. While most OvCa patients initially respond to surgical debulking and chemotherapy, 75% of patients later succumb to the disease. Thus, there is an urgent need to test novel therapeutic agents to counteract the high mortality rate associated with OvCa. In this context, we have developed and engineered Nanoceria (NCe, nanoparticles of cerium oxide, possessing anti-oxidant properties, to be used as a therapeutic agent in OvCa. We show for the first time that NCe significantly inhibited production of reactive oxygen species (ROS in A2780 cells, attenuated growth factor (SDF1, HB-EGF, VEGF(165 and HGF mediated cell migration and invasion of SKOV3 cells, without affecting the cell proliferation. NCe treatment also inhibited VEGF(165 induced proliferation, capillary tube formation, activation of VEGFR2 and MMP2 in human umbilical vascular endothelial cells (HUVEC. NCe (0.1 mg/kg body weigh treatment of A2780 ovarian cancer cells injected intra-peritoneally in nude mice showed significant reduction (p<0.002 in tumor growth accompanied by decreased tumor cell proliferation as evident from reduced tumor size and Ki67 staining. Accumulation of NCe was found in tumors isolated from treated group using transmission electron microscopy (TEM and inductively coupled plasma mass spectroscopy (ICP-MS. Reduction of the tumor mass was accompanied by attenuation of angiogenesis, as observed by reduced CD31 staining and specific apoptosis of vascular endothelial cells. Collectively, these results indicate that cerium oxide based NCe is a novel nanoparticle that can potentially be used as an anti-angiogenic therapeutic agent in ovarian cancer.

  12. Iron toxicity and its possible association with treatment of Cancer: lessons from hemoglobinopathies and rare, transfusion-dependent anemias.

    Science.gov (United States)

    Puliyel, Mammen; Mainous, Arch G; Berdoukas, Vasilios; Coates, Thomas D

    2015-02-01

    Exposure to elevated levels of iron causes tissue damage and organ failure, and increases the risk of cancer. The toxicity of iron is mediated through generation of oxidants. There is also solid evidence indicating that oxidant stress plays a significant role in a variety of human disease states, including malignant transformation. Iron toxicity is the main focus when managing thalassemia. However, the short- and long-term toxicities of iron have not been extensively considered in children and adults treated for malignancy, and only recently have begun to draw oncologists' attention. The treatment of malignancy can markedly increase exposure of patients to elevated toxic iron species without the need for excess iron input from transfusion. This under-recognized exposure likely enhances organ toxicity and may contribute to long-term development of secondary malignancy and organ failure. This review discusses the current understanding of iron metabolism, the mechanisms of production of toxic free iron species in humans, and the relation of the clinical marker, transferrin saturation (TS), to the presence of toxic free iron. We will present epidemiological data showing that high TS is associated with poor outcomes and development of cancer, and that lowering free iron may improve outcomes. Finally, we will discuss the possible relation between some late complications seen in survivors of cancer and those due to iron toxicity.

  13. Importance of revealing a rare case of breast cancer in a female to male transsexual after bilateral mastectomy.

    Science.gov (United States)

    Nikolic, Dejan V; Djordjevic, Miroslav L; Granic, Miroslav; Nikolic, Aleksandra T; Stanimirovic, Violeta V; Zdravkovic, Darko; Jelic, Svetlana

    2012-12-28

    The incidence of breast carcinoma following prophylactic mastectomy is probably less than 2%. We present a 43-year-old female to male transsexual who developed breast cancer 1 year after bilateral nipple- sparing subcutaneous mastectomy as part of female to male gender reassignment surgery. In addition to gender reassignment surgery, total abdominal hysterectomy with bilateral salpingo-oophorectomy (to avoid the patient from entering menopause and to eliminate any subsequent risk of iatrogenic endometrial carcinoma), colpocleisys, metoidioplasty, phalloplasty, urethroplasty together with scrotoplasty/placement of testicular prosthesis and perineoplasty were also performed. Before the sex change surgery, the following diagnostic procedures were performed: breast ultrasound and mammography (which were normal), lung radiography (also normal) together with abdominal ultrasound examination, biochemical analysis of the blood and hormonal status.According to medical literature, in the last 50 years only three papers have been published with four cases of breast cancer in transsexual female to male patients. All hormonal pathways included in this complex hormonal and surgical procedure of transgender surgery have important implications for women undergoing prophylactic mastectomy because of a high risk of possible breast cancer.

  14. Importance of revealing a rare case of breast cancer in a female to male transsexual after bilateral mastectomy

    Directory of Open Access Journals (Sweden)

    Nikolic Dejan V

    2012-12-01

    Full Text Available Abstract The incidence of breast carcinoma following prophylactic mastectomy is probably less than 2%. We present a 43-year-old female to male transsexual who developed breast cancer 1 year after bilateral nipple- sparing subcutaneous mastectomy as part of female to male gender reassignment surgery. In addition to gender reassignment surgery, total abdominal hysterectomy with bilateral salpingo-oophorectomy (to avoid the patient from entering menopause and to eliminate any subsequent risk of iatrogenic endometrial carcinoma, colpocleisys, metoidioplasty, phalloplasty, urethroplasty together with scrotoplasty/placement of testicular prosthesis and perineoplasty were also performed. Before the sex change surgery, the following diagnostic procedures were performed: breast ultrasound and mammography (which were normal, lung radiography (also normal together with abdominal ultrasound examination, biochemical analysis of the blood and hormonal status. According to medical literature, in the last 50 years only three papers have been published with four cases of breast cancer in transsexual female to male patients. All hormonal pathways included in this complex hormonal and surgical procedure of transgender surgery have important implications for women undergoing prophylactic mastectomy because of a high risk of possible breast cancer.

  15. Breast Cancer Suspicion in a Transgender Male-to-Female Patient on Hormone Replacement Therapy Presenting with Right Breast Mass: Breast Cancer Risk Assessment and Presentation of a Rare Lesion

    Directory of Open Access Journals (Sweden)

    Krystina Tongson

    2017-01-01

    Full Text Available There has been an increasing use of hormonal therapy among male-to-female (MtF transgender individuals. This long-term hormone replacement therapy (HRT renders MtF individuals a unique patient subgroup in terms of breast cancer risk. This case describes a MtF transgender who presented with a breast lesion concerning for malignancy following hormonal replacement therapy. The patient additionally had a strong family history of breast cancer. Final pathology revealed lobular hyperplasia in the setting of gynecomastia and pseudoangiomatous stromal hyperplasia (PASH. Both pathology findings are rare in biological females, let alone in the setting of hormone replacement therapy in a MtF individual. While the number of reported cases of suspicious breast lesions in this population remains scarce, it presents both a diagnostic and therapeutic challenge due to the nature of the treatment course and the lack of research in this recently growing subgroup of patients.

  16. High endothelial venules are rare in colorectal cancers but accumulate in extra-tumoral areas with disease progression.

    Science.gov (United States)

    Bento, Diana Costa; Jones, Emma; Junaid, Syed; Tull, Justyna; Williams, Geraint T; Godkin, Andrew; Ager, Ann; Gallimore, Awen

    2015-03-01

    Prolonged patient survival after surgical resection, is associated with a higher cytotoxic and memory T cell density within colorectal cancers (CRC). High endothelial venules (HEVs) are specialized blood vessels present in secondary lymphoid organs (SLO) that allow ingress of naïve and central memory T cells from the blood. It has been proposed that HEVs in tumors might serve as a similar route of entry for lymphocytes into the tumor and result in an improved prognosis. The present study aimed to characterize HEVs and their microenvironment in resected tumors from colorectal cancer patients (n = 62). We observed HEVs in association with lymphoid aggregates in 49 out of 62 patients. However, these HEV(+) lymphoid aggregates were largely at the invasive margin of the tumor and although there was an association with lymphocytes and HEVs at the invasive margin (p = 0.002) there was only a very weak association with tumor infiltrating lymphocytes. Indeed, lymphoid aggregates were associated with more advanced disease (Dukes' stage C) and did not indicate a favorable prognosis.

  17. Clinical Genotyping of Non–Small Cell Lung Cancers Using Targeted Next-Generation Sequencing: Utility of Identifying Rare and Co-mutations in Oncogenic Driver Genes

    Directory of Open Access Journals (Sweden)

    Laura J. Tafe

    2016-09-01

    Full Text Available Detection of somatic mutations in non–small cell lung cancers (NSCLCs, especially adenocarcinomas, is important for directing patient care when targeted therapy is available. Here, we present our experience with genotyping NSCLC using the Ion Torrent Personal Genome Machine (PGM and the AmpliSeq Cancer Hotspot Panel v2. We tested 453 NSCLC samples from 407 individual patients using the 50 gene AmpliSeq Cancer Hotspot Panel v2 from May 2013 to July 2015. Using 10 ng of DNA, up to 11 samples were simultaneously sequenced on the Ion Torrent PGM (316 and 318 chips. We identified variants with the Ion Torrent Variant Caller Plugin, and Golden Helix's SVS software was used for annotation and prediction of the significance of the variants. Three hundred ninety-eight samples were successfully sequenced (12.1% failure rate. In all, 633 variants in 41 genes were detected with a median of 2 (range of 0 to 7 variants per sample. Mutations detected in BRAF, EGFR, ERBB2, KRAS, NRAS, and PIK3CA were considered potentially actionable and were identified in 237 samples, most commonly in KRAS (37.9%, EGFR (11.1%, BRAF (4.8%, and PIK3CA (4.3%. In our patient population, all mutations in EGFR, KRAS, and BRAF were mutually exclusive. The Ion Torrent Ampliseq technology can be utilized on small biopsy and cytology specimens, requires very little input DNA, and can be applied in clinical laboratories for genotyping of NSCLC. This targeted next-generation sequencing approach allows for detection of common and also rare mutations that are clinically actionable in multiple patients simultaneously.

  18. Rare Helicobacter pylori infection as a factor for the very low stomach cancer incidence in Yogyakarta, Indonesia.

    Science.gov (United States)

    Tokudome, Shinkan; Soeripto; Triningsih, F X Ediati; Ananta, Indrawati; Suzuki, Sadao; Kuriki, Kiyonori; Akasaka, Susumu; Kosaka, Hiroshi; Ishikawa, Hideki; Azuma, Takeshi; Moore, Malcolm A

    2005-02-28

    To elucidate factors associated with the very low risk of gastric neoplasia in Yogyakarta, Indonesia, approximately 1/50 of the level in Japan, we recruited 52 male and 39 female participants from the general populace in the city of Yogyakarta in October 2003. Helicobacter pylori IgG antibodies were found in only 5% (0-13) (95% confidence interval) and 4% (0-9) for Javanese males and females, respectively, and were statistically lower than the 62% (58-65) and 57% (53-60), respectively, in Japanese. Furthermore, positive findings of pepsinogen test were only 0 and 2% (0-6) for males and females, in Yogyakarta, and were again significantly lower than the 23% (22-25) and 22% (20-23), in Japan. The very low incidence of stomach cancer in Yogyakarta may be due to a low prevalence of H. pylori infection and chronic atrophic gastritis.

  19. Rare Malignant Tumors of the Breast

    OpenAIRE

    Trevor Miller; Constance Albarracin; Selin Carkaci; Whitman, Gary J.; Adrada, Beatriz E.

    2015-01-01

    While the more common forms of breast cancer are well understood and recognized, there are many important rare malignancies that are less appreciated. Many of these cancers have imaging findings that, when understood, help to formulate a more educated differential diagnosis. In this article, the clinical features, imaging, and pathologic findings of rare breast malignancies will be discussed.

  20. Rare Malignant Tumors of the Breast

    Directory of Open Access Journals (Sweden)

    Trevor Miller

    2015-01-01

    Full Text Available While the more common forms of breast cancer are well understood and recognized, there are many important rare malignancies that are less appreciated. Many of these cancers have imaging findings that, when understood, help to formulate a more educated differential diagnosis. In this article, the clinical features, imaging, and pathologic findings of rare breast malignancies will be discussed.

  1. [A rare cancer: cancers of the small intestine. 25 cases diagnosed at the Institut Pasteur de Madagascar from 1992 to 2001].

    Science.gov (United States)

    Raharisolo Vololonantenaina, C R; Dina, T J N; Ravalisoa, A

    2003-01-01

    A retrospective survey of cases of cancer of the small intestine observed in the Institut Pasteur de Madagascar (IPM), in the Centre Hospitalier de Soavinandriana (CenHoSoa) and in the Centre Hospitalier Universitaire d'Antananarivo/Hôpital Joseph Ravoahangy Andrianavalona (CHUA/HJRA), has been undertaken with the goal to find out epidemiological and diagnostical particularities, as well as the therapeutic measures and their results. Only 25 cases have been found in 10 years (from 1992 to 2001). They represent 5.4% of the digestive cancers diagnosed by the Institut Pasteur de Madagascar. They concern 14 women and 11 men with a mean age of 36 years old at the time of diagnosis. The motive of hospitalization was an acute abdomen (peritonitis, perforation, occlusive syndrome, König's syndrome) in 64.3%, and a chronic abdominal pain often associated with abdominal mass in 35.7%. The duodenum is the predilection seat of the small bowel cancers (50%), followed by the ileum (25%) and the jejunum (10%). A diffuse shape has been observed in 15% of the cases. The most frequent histological type is the lymphoma (40%) followed by the adenocarcinoma (32%).

  2. Frequently Asked Questions about Rare Diseases

    Science.gov (United States)

    ... page What are some examples of rare diseases? Examples of rare diseases caused by mutations in single genes include cystic fibrosis, which affects ... responsible for some rare, inherited types of cancer. Examples of these are ... which certain mutations increase the risk for hereditary breast and ovarian ...

  3. Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

    Science.gov (United States)

    Decker, Brennan; Allen, Jamie; Luccarini, Craig; Pooley, Karen A; Shah, Mitul; Bolla, Manjeet K; Wang, Qin; Ahmed, Shahana; Baynes, Caroline; Conroy, Don M; Brown, Judith; Luben, Robert; Ostrander, Elaine A; Pharoah, Paul Dp; Dunning, Alison M; Easton, Douglas F

    2017-08-04

    Breast cancer (BC) is the most common malignancy in women and has a major heritable component. The risks associated with most rare susceptibility variants are not well estimated. To better characterise the contribution of variants in ATM, CHEK2, PALB2 and XRCC2, we sequenced their coding regions in 13 087 BC cases and 5488 controls from East Anglia, UK. Gene coding regions were enriched via PCR, sequenced, variant called and filtered for quality. ORs for BC risk were estimated separately for carriers of truncating variants and of rare missense variants, which were further subdivided by functional domain and pathogenicity as predicted by four in silico algorithms. Truncating variants in PALB2 (OR=4.69, 95% CI 2.27 to 9.68), ATM (OR=3.26; 95% CI 1.82 to 6.46) and CHEK2 (OR=3.11; 95% CI 2.15 to 4.69), but not XRCC2 (OR=0.94; 95% CI 0.26 to 4.19) were associated with increased BC risk. Truncating variants in ATM and CHEK2 were more strongly associated with risk of oestrogen receptor (ER)-positive than ER-negative disease, while those in PALB2 were associated with similar risks for both subtypes. There was also some evidence that missense variants in ATM, CHEK2 and PALB2 may contribute to BC risk, but larger studies are necessary to quantify the magnitude of this effect. Truncating variants in PALB2 are associated with a higher risk of BC than those in ATM or CHEK2. A substantial risk of BC due to truncating XRCC2 variants can be excluded. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  4. The Essential Role of Radiotherapy in the Treatment of Merkel Cell Carcinoma: A Study From the Rare Cancer Network

    Energy Technology Data Exchange (ETDEWEB)

    Ghadjar, Pirus, E-mail: pirus.ghadjar@insel.ch [Department of Radiation Oncology, Inselspital, Bern University Hospital, and University of Bern (Switzerland); Kaanders, Johannes H. [Department of Radiation Oncology, Radboud University Nijmegen Medical Centre, Institute of Oncology (Netherlands); Poortmans, Philipp [Department of Radiation Oncology, Institute Verbeeten, Tilburg (Netherlands); Zaucha, Renata [Department of Oncology and Radiotherapy, Medical University, Gdansk (Poland); Krengli, Marco [Department of Radiotherapy, University Hospital Maggiore della Carita, Novara (Italy); Lagrange, Jean L. [Service de Radiotherapie, Hopital Henri-Mondor, Creteil (France); Oezsoy, Orhan [Department of Radiation Oncology, CHCVs-RSV, Sion (Switzerland); Nguyen, Tan D. [Department of Radiation Oncology, Institut Jean Godinot, Reims (France); Miralbell, Raymond [Department of Radiation Oncology, Hopitaux Universitaires de Geneve, Geneva (Switzerland); Baize, Adele [Department de Radio-Oncologie, Institut Jules Bordet, Bruxelles (Belgium); Boujelbene, Noureddine [Department of Radiation Oncology, Centre Hospitalier Universitaire Vaudois, Lausanne (Switzerland); Collen, Timothy [Department of Radiation Oncology, Kantonsspital St. Gallen (Switzerland); Scandolaro, Luciano [Radioterapia, Azienda Ospedale Sant' Anna, Como (Italy); Untereiner, Michel [Centre Francois Baclesse, Luxembourg (Luxembourg); Goldberg, Hadassah [Oncology Departement, Rambam Medical Center, Haifa (Israel); Pesce, Gianfranco A. [Department of Radiation Oncology, Oncology Institute of Southern Switzerland, Opedale San Giovanni, Bellinzona (Switzerland); Anacak, Yavuz [Department of Radiation Oncology, EGE University, Izmir (Turkey); Friedrich, Esther E.; Aebersold, Daniel M. [Department of Radiation Oncology, Inselspital, Bern University Hospital, and University of Bern (Switzerland); Beer, Karl T. [Radio Onkologiezentrum Biel (Switzerland)

    2011-11-15

    Purpose: To evaluate the role of postoperative radiotherapy (RT) in Merkel cell carcinoma (MCC). Methods and Materials: A retrospective multicenter study was performed in 180 patients with MCC treated between February 1988 and September 2009. Patients who had had surgery alone were compared with patients who received surgery and postoperative RT or radical RT. Local relapse-free survival (LRFS), regional relapse-free survival (RRFS), and distant metastasis-free survival (DMFS) rates were assessed together with disease-free survival (DFS), cancer-specific survival (CSS), and overall survival (OS) rates. Results: Seventy-nine patients were male and 101 patients were female, and the median age was 73 years old (range, 38-93 years). The majority of patients had localized disease (n = 146), and the remaining patients had regional lymph node metastasis (n = 34). Forty-nine patients underwent surgery for the primary tumor without postoperative RT to the primary site; the other 131 patients received surgery for the primary tumor, followed by postoperative RT (n = 118) or a biopsy of the primary tumor followed by radical RT (n = 13). Median follow-up was 5 years (range, 0.2-16.5 years). Patients in the RT group had improved LRFS (93% vs. 64%; p < 0.001), RRFS (76% vs. 27%; p < 0.001), DMFS (70% vs. 42%; p = 0.01), DFS (59% vs. 4%; p < 0.001), and CSS (65% vs. 49%; p = 0.03) rates compared to patients who underwent surgery for the primary tumor alone; LRFS, RRFS, DMFS, and DFS rates remained significant with multivariable Cox regression analysis. However OS was not significantly improved by postoperative RT (56% vs. 46%; p = 0.2). Conclusions: After multivariable analysis, postoperative RT was associated with improved outcome and seems to be an important component in the multimodality treatment of MCC.

  5. Not so Rare, Rare Diseases

    Science.gov (United States)

    Waldman, H. Barry; Perlman, Steven P.; Munter, Beverly L.; Chaudhry, Ramiz A.

    2008-01-01

    A rare disease or condition is defined by federal legislation such that it: (1) affects less than 200,000 persons in the U.S.; or (2) affects more than 200,000 persons in the U.S. but for which there is no reasonable expectation that the cost of developing and making available in the U.S. a drug for such disease or condition will be recovered from…

  6. Recurrent Respiratory Papillomatosis: A Rare Chronic Disease, Difficult to Treat, with Potential to Lung Cancer Transformation: Apropos of Two Cases and a Brief Literature Review

    Directory of Open Access Journals (Sweden)

    Stamatis Katsenos

    2011-03-01

    Full Text Available Recurrent respiratory papillomatosis (RRP, which is caused exclusively by human papilloma virus (HPV, is a rare condition characterized by recurrent growth of benign papillomata in the respiratory tract. The papillomata can occur anywhere in the aerodigestive tract but most frequently in the larynx, affecting both children and adults. The management of this entity remains still challenging since no specific definitive treatment exists. Nevertheless, novel surgical interventions as well as several adjuvant therapies have shown promising results in the long-term palliative management of this debilitating disease. Despite its mostly benign nature, RRP may cause significant morbidity and mortality because of its unpredictable clinical course and especially its tendency, albeit infrequent, for malignant transformation. In this article, we present two patients with RRP; one underwent bronchoscopic laser ablation in combination with inhaled interferon-alpha administration that led to a long-term regression of the disease while the other patient was diagnosed with transformation to squamous cell lung carcinoma with fatal outcome. We include a review of the current literature with special emphasis on RRP management and the potential role of HPV in the development of lung cancer.

  7. Pancreatic endocrine tumours: mutational and immunohistochemical survey of protein kinases reveals alterations in targetable kinases in cancer cell lines and rare primaries

    Science.gov (United States)

    Corbo, V.; Beghelli, S.; Bersani, S.; Antonello, D.; Talamini, G.; Brunelli, M.; Capelli, P.; Falconi, M.; Scarpa, A.

    2012-01-01

    Background: Kinases represent potential therapeutic targets in pancreatic endocrine tumours (PETs). Patients and methods: Thirty-five kinase genes were sequenced in 36 primary PETs and three PET cell lines: (i) 4 receptor tyrosine kinases (RTK), epithelial growth factor receptor (EGFR), human epidermal growth factor receptor 2 (HER2), tyrosine-protein kinase KIT (KIT), platelet-derived growth factor receptor alpha (PDGFRalpha); (ii) 6 belonging to the Akt/mTOR pathway; and (iii) 25 frequently mutated in cancers. The immunohistochemical expression of the four RTKs and the copy number of EGFR and HER2 were assessed in 140 PETs. Results: Somatic mutations were found in KIT in one and ATM in two primary neoplasms. Among 140 PETs, EGFR was immunopositive in 18 (13%), HER2 in 3 (2%), KIT in 16 (11%), and PDGFRalpha in 135 (96%). HER2 amplification was found in 2/130 (1.5%) PETs. KIT membrane immunostaining was significantly associated with tumour aggressiveness and shorter patient survival. PET cell lines QGP1, CM and BON harboured mutations in FGFR3, FLT1/VEGFR1 and PIK3CA, respectively. Conclusions: Only rare PET cases, harbouring either HER2 amplification or KIT mutation, might benefit from targeted drugs. KIT membrane expression deserves further attention as a prognostic marker. ATM mutation is involved in a proportion of PET. The finding of specific mutations in PET cell lines renders these models useful for preclinical studies involving pathway-specific therapies. PMID:21447618

  8. Anyone Can Get Skin Cancer

    Science.gov (United States)

    ... of Skin Cancer Skin Cancer Screening Research Anyone Can Get Skin Cancer Order the free Anyone Can ... rarely, younger children can develop skin cancer. How can people with dark skin get skin cancer? Although ...

  9. Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ Oversupply of rare earths led to the significant price drop of rare earth mineral products and separated products in Chinese domestic market. To stabilize the price, prevent waste of resources, further improve regulation capability on domestic rare earth market and rare earth price and maintain sustaining and healthy development of rare earth industry, partial rare earth producers in Baotou and Jiangxi province projected to cease the production for one month.

  10. Intestinal Cancer

    Science.gov (United States)

    ... connects your stomach to your large intestine. Intestinal cancer is rare, but eating a high-fat diet ... increase your risk. Possible signs of small intestine cancer include Abdominal pain Weight loss for no reason ...

  11. Gallbladder Cancer

    Science.gov (United States)

    ... your gallbladder and liver to your small intestine. Cancer of the gallbladder is rare. It is more ... the abdomen It is hard to diagnose gallbladder cancer in its early stages. Sometimes doctors find it ...

  12. Prostate Cancer

    Science.gov (United States)

    ... man's bladder that produces fluid for semen. Prostate cancer is common among older men. It is rare ... younger than 40. Risk factors for developing prostate cancer include being over 65 years of age, family ...

  13. Thymus Cancer

    Science.gov (United States)

    ... cell. These cells help protect you from infections. Cancer of the thymus is rare. You are more ... Sometimes there are no symptoms. Other times, thymus cancer can cause A cough that doesn't go ...

  14. Squamous Cell Cancer Arising in an African American Male Cheek from Discoid Lupus: A Rare Case and Review of the Literature.

    Science.gov (United States)

    Shapera, Emanuel A; Kim, Paul D

    2016-01-01

    A 50-year-old African American male with Discoid Lupus Erythematosus (DLE) presented to the dermatology clinic for a rapidly enlarging left cheek mass. The mass failed to resolve with conservative measures. A biopsy revealed poorly differentiated Squamous Cell Carcinoma (SCC). He was referred to Head and Neck Surgery and successfully underwent a resection with free flap reconstruction. Postoperatively he did well. Squamous cell skin carcinomas arising from lesions of Discoid Lupus are rare and aggressive tumors with greater likelihood of metastases. Cases have been reported among patients with different clinical characteristics; we present a rare case arising in an African American male on the face and involving the ear.

  15. Severe bleeding tendency caused by a rare complication of excessive fibrinolysis with disseminated intravascular coagulation in a 51-year-old Japanese man with prostate cancer: a case report

    Directory of Open Access Journals (Sweden)

    Wada Yoshihiro

    2012-11-01

    Full Text Available Abstract Introduction Disseminated intravascular coagulation causes thrombotic tendency leading to multiple organ failure and occurs in a wide variety of diseases including malignancy. Disseminated intravascular coagulation is a latent complication in people with prostate cancer. Case presentation A 51-year-old Japanese man with advanced castration-resistant prostate cancer was admitted to our hospital because of extensive purpura and severe anemia. Prolonged plasma coagulation time, hypofibrinogenemia and normal platelet count suggested that a decrease in fibrinogen induced a bleeding tendency causing purpura. However, elevated plasma levels of thrombin-antithrombin complex, fibrin and/or fibrinogen degradation products and D-dimers, with positive fibrin monomer test, manifested disseminated intravascular coagulation and subsequent fibrinolysis. Plasma levels of thrombin-antithrombin complex, fibrin and/or fibrinogen degradation products and D-dimers decreased after administration of low-molecular-weight heparin. However, low fibrinogen and α2-antiplasmin levels were not improved and plasmin-antiplasmin complex did not decrease, which revealed excessive fibrinolysis complicated with disseminated intravascular coagulation. We suspected that prostate cancer cell-derived urokinase-type plasminogen activator caused excessive fibrinolysis. Administration of tranexamic acid for fibrinogenolysis was added together with high-dose anti-androgen therapy (fosfestrol for prostate cancer. Thereafter, prostate-specific antigen and plasmin-antiplasmin complex decreased, followed by normalized fibrinogen and α2-antiplasmin levels, and the patient eventually recovered from the bleeding tendency. Immunohistochemical staining of the biopsied prostate tissue exhibited that the prostate cancer cells produced tissue factor, the coagulation initiator, and urokinase-type plasminogen activator. Conclusion This patient with rare complications of disseminated

  16. Rare Earth Resolution

    Institute of Scientific and Technical Information of China (English)

    Mei Xinyu

    2012-01-01

    BEFORE the early 1970s, China had no rare earth exports, and the world rare earth market was dominated by the United States, Europe and Japan. In the 1970s, China began to enter the world rare earth market and its share has picked up sharply in the following decades. Today, having the monopoly over global rare earth production, China must improve the benefits from rare earth production, not only from producing individual rare earth products, but also from mastering the intensive processing of rare earth products.

  17. Vaginal Cancer

    Science.gov (United States)

    Vaginal cancer is a rare type of cancer. It is more common in women 60 and older. You are also more likely to get it if you have had a human ... test can find abnormal cells that may be cancer. Vaginal cancer can often be cured in its ...

  18. Synthesis and characterization of rare earth molybdates nanoparticles for detection of specific prostatic cancer (PSA); Preparacao e caracterizacao de nanoparticulas de molibdatos de terras raras para deteccao do antigeno especifico da prostata (PSA)

    Energy Technology Data Exchange (ETDEWEB)

    Dias, Clarissa Lombardi

    2013-07-01

    The interest in using rare earths to investigate the properties and functions of biochemical systems as well as to determinate biological substances has increased in several fields, including biomarkers in immunology (fluoro immunoassays). Nowadays the use of lanthanides in the diagnosis of various diseases have become more important through the development of commercial diagnostic kits. As main feature, these rare earths can show a long lifetime, photo stability and emission bands of atomic like behavior and well defined, in the visible region, demonstrating unique advantages when compared to other luminescent species. The present work had as its goal to synthesize rare earth molybdates by the co-precipitation method as well as to characterize these materials by X-ray diffraction, near infrared spectroscopy, thermogravimetric analysis, scanning electronic microscopy, transmission electronic microscopy and luminescent studies. In this work, three different studied were developed: the influence of the vortex speed variation during co-precipitation in the structure of the final product, morphology and luminescence properties; the influence of the annealing temperature also in the structure, morphology and luminescence properties; and the influence of concentration of the doping in the luminescence properties. Another important step of this work was the functionalization of nanoparticles using an organosilane (APTES) to coat and establish points for binding the particles to biological species. It was proved that this process was very efficient by the characterization results and the silica incorporation was well succeeded. Specific prostatic cancer (PSA) was then linked to the functionalized nanoparticles to diagnostic prostatic cancer by fluoroimmunoassay and levels for detection were established. (author)

  19. RARE CASE OF COLONIC METASTASIS

    Directory of Open Access Journals (Sweden)

    Vinod Kumar

    2015-04-01

    Full Text Available Colon cancer is the second most common type of cancer in females and the third in males worldwide. The most common sites of colon cancer metastasis are the regional lymph nodes, liver, lung, bone and brain. In this case report, an extremely rare case of colon adenocarcinoma with metastasis to the philtrum with extensive peritoneal and bowel involvement is presented. A 44 year old male presented with a change in bowel habits, melena and weight loss . Diagnosed to have carcinoma rectum underwent Abdominoperenial resection (APR two y ears back. Biopsies were consistent with the diagnosis of invasive moderately differentiated adenocarcinoma. Now presented with swelling over philtrum . Fine needle aspiration (FNAC was done suggestive of adenocarcinoma. This case presented for its uncommon presentation.

  20. Squamous Cell Cancer Arising in an African American Male Cheek from Discoid Lupus: A Rare Case and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Emanuel A. Shapera

    2016-01-01

    Full Text Available A 50-year-old African American male with Discoid Lupus Erythematosus (DLE presented to the dermatology clinic for a rapidly enlarging left cheek mass. The mass failed to resolve with conservative measures. A biopsy revealed poorly differentiated Squamous Cell Carcinoma (SCC. He was referred to Head and Neck Surgery and successfully underwent a resection with free flap reconstruction. Postoperatively he did well. Squamous cell skin carcinomas arising from lesions of Discoid Lupus are rare and aggressive tumors with greater likelihood of metastases. Cases have been reported among patients with different clinical characteristics; we present a rare case arising in an African American male on the face and involving the ear.

  1. The impact of common and rare EGFR mutations in response to EGFR tyrosine kinase inhibitors and platinum-based chemotherapy in patients with non-small cell lung cancer.

    Science.gov (United States)

    Arrieta, Oscar; Cardona, Andrés Felipe; Corrales, Luis; Campos-Parra, Alma Delia; Sánchez-Reyes, Roberto; Amieva-Rivera, Eduardo; Rodríguez, July; Vargas, Carlos; Carranza, Hernán; Otero, Jorge; Karachaliou, Nikki; Astudillo, Horacio; Rosell, Rafael

    2015-02-01

    In non-small cell lung cancer (NSCLC), the association between common EGFR mutations (Del EX19/L858R) with EGFR tyrosine kinase inhibitors (EGFR-TKIs) has been well established. However, this has not been investigated for rare EGFR mutations or their impact on treatment response and outcome to EGFR TKIs (primary objective) and chemotherapy (secondary objective). In an observational prospective cohort, we analyzed 188 NSCLC patients from Mexico, Colombia and Costa Rica with EGFR mutations. As a first line of treatment, 66.5% received platinum-based chemotherapy. All patients received TKIs in first-line treatment or after progression to chemotherapy. The clinical-pathological characteristics as well as the f of common and rare EGFR mutations associated with treatment response were analyzed. Of all patients, 79.5% had common and 20.5% had rare EGFR mutations. Lepidic and acinar adenocarcinomas were associated with common EGFR mutations (p=0.010). Patients with common EGFR mutations had higher response rates to EGFR-TKIs than those who had rare EGFR mutations (63.8 vs 32.4%, p<0.001). Women had increased progression-free survival (PFS) to EGFR-TKIs than men (16.4 vs 9.5 months, p=0.02). The median PFS and overall survival (OS) were better in patients with common EGFR mutations (15.5 vs 3.9 months, p<0.001; and 37.3 vs 17.4 months, p<0.001) respectively. Our findings suggested that only patients with rare EGFR mutations could receive platinum-based chemotherapy as a first-line treatment, due to their low response rates and short PFS in response to EGFR-TKIs. Consequently, EGFR-TKIs could be reserved as a second- or third-line treatment. In patients with EGFR mutations, women have better PFS to EGFR-TKIs than men, and rare EGFR mutations are more frequent in high grade adenocarcinomas than in low grade tumors. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  2. Xanthogranulomatous prostatitis: Rare presentation of rare disease

    Directory of Open Access Journals (Sweden)

    Rohan S Valsangkar

    2012-01-01

    Full Text Available Granulomatous inflammation of the prostate is a rare type of inflammation of the prostate. It is of various types, with the non-specific type of granulomatous inflammation being the most common. Xanthogranulomatous prostatitis is a rare type of granulomatous prostatitis of which very few cases have been reported. Histologically it is characterized by the presence of pale-looking foamy macrophages. It can be an incidental finding after transurethral resection of the prostate (TURP, although it may mimic prostatic malignancy clinically, biochemically, and rarely histologically. We report a rare case of xanthogranulomatous prostatitis which presented as a prostatic abscess, a presentation never reported in literature so far. The patient was managed with TURP.

  3. Rare Disorders and Diseases

    Science.gov (United States)

    Umlauf, Mary; Monaco, Jana; FitzZaland, Mary; FitzZaland, Richard; Novitsky, Scott

    2008-01-01

    According to the National Organization for Rare Disorders (NORD), a rare or "orphan" disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans. "Exceptional Parent" ("EP") recognizes that when a disorder affects a child or adult, it…

  4. Testicular calculus: A rare case.

    Science.gov (United States)

    Sen, Volkan; Bozkurt, Ozan; Demır, Omer; Tuna, Burcin; Yorukoglu, Kutsal; Esen, Adil

    2015-01-01

    Testicular calculus is an extremely rare case with unknown etiology and pathogenesis. To our knowledge, here we report the third case of testicular calculus. A 31-year-old man was admitted to our clinic with painful solid mass in left testis. After diagnostic work-up for a possible testicular tumour, he underwent inguinal orchiectomy and histopathologic examination showed a testicular calculus. Case hypothesis: Solid testicular lesions in young adults generally correspond to testicular cancer. Differential diagnosis should be done carefully. Future implications: In young adults with painful and solid testicular mass with hyperechogenic appearance on scrotal ultrasonography, testicular calculus must be kept in mind in differential diagnosis. Further reports on this topic may let us do more clear recommendations about the etiology and treatment of this rare disease.

  5. Comprehensive Analysis of the Incidence and Survival Patterns of Lung Cancer by Histologies, Including Rare Subtypes, in the Era of Molecular Medicine and Targeted Therapy: A Nation-Wide Cancer Registry-Based Study From Taiwan.

    Science.gov (United States)

    Chang, Jeffrey S; Chen, Li-Tzong; Shan, Yan-Shen; Lin, Sheng-Fung; Hsiao, Sheng-Yen; Tsai, Chia-Rung; Yu, Shu-Jung; Tsai, Hui-Jen

    2015-06-01

    Lung cancer is the third most common cancer in the world and has the highest cancer mortality rate. A worldwide increasing trend of lung adenocarcinoma has been noted. In addition, the identification of epidermal growth factor receptor (EGFR) mutations and the introduction of EGFR inhibitors to successfully treat EGFR mutated non-small cell lung cancers are breakthroughs for lung cancer treatment. The current study evaluated the incidence and survival of lung cancer using data collected by the Taiwan Cancer Registry between 1996 and 2008. The results showed that the most common histologic subtype of lung cancer was adenocarcinoma, followed by squamous cell carcinoma, small cell carcinoma, large cell carcinoma, neuroendocrine tumors, lymphoma, and sarcoma. Overall, the incidence of lung cancer in Taiwan increased significantly from 1996 to 2008. An increased incidence was observed for adenocarcinoma, particularly for women, with an annual percentage change of 5.9, whereas the incidence of squamous cell carcinoma decreased. Among the subtypes of lung cancer, the most rapid increase occurred in neuroendocrine tumors with an annual percentage change of 15.5. From 1996-1999 to 2005-2008, the 1-year survival of adenocarcinoma increased by 10% for men, whereas the 1-, 3-, and 5-year survivals of adenocarcinoma for women increased by 18%, 11%, and 5%, respectively. Overall, the incidence of lung cancer has been increasing in Taiwan, although the trends were variable by subtype. The introduction of targeted therapies was associated with a significantly improved survival for lung adenocarcinoma in Taiwan; however, more studies are needed to explain the rising incidence of lung adenocarcinoma. In addition, it is important to investigate the molecular pathogenesis of the various subtypes of lung cancer to develop novel therapeutic agents.

  6. A rare case of TFE-related pigmented renal tumor with overlapping features between melanotic Xp11 translocation renal cancer and Xp11 renal cell carcinoma with melanotic features.

    Science.gov (United States)

    Cardili, Leonardo; Wrublevsky Pereira, Gregório; Viana, Cristiano Ribeiro

    2017-02-16

    In recent years, an increasing number of TFE3 rearrangement-associated tumors with melanotic features have been reported as primary neoplasm in different anatomical sites, including the kidney. Melanotic Xp11 translocation renal cancer (MXTRC) and Xp11 renal cell carcinoma with melanotic features (XRCCM) have been proposed to be main categories for pigmented lesions in the microophthalmia-associated transcription factor (MiTF/TFE3) family of renal tumors that may show variable degrees of melanocytic differentiation. Herein we report a rare case of TFE3-related pigmented renal tumor showing unusual immunoexpression of cytokeratins (AE1/AE3) and renal cell carcinoma markers (RCC, CD10). Cathepsin-K and Vimentin were diffusely positive whereas melanocytic markers (HMB-45 and Melan-A) displayed weak and patchy expression. We found no labelling for PAX-8, muscle markers (desmin, smooth muscle actin, muscle-specific actin and caldesmon) and S-100. TFE3 fusion was confirmed by break-apart fluorescence in situ hybridization (FISH). This case corroborates previous evidence for overlap in the TFE3-associated cancer family and illustrates that it may not be possible to set a clear cutoff between epithelial (XRCCM) and mesenchymal (MXTRC) subgroups.

  7. Analysis of rare categories

    CERN Document Server

    He, Jingrui

    2012-01-01

    In many real-world problems, rare categories (minority classes) play essential roles despite their extreme scarcity. The discovery, characterization and prediction of rare categories of rare examples may protect us from fraudulent or malicious behavior, aid scientific discovery, and even save lives. This book focuses on rare category analysis, where the majority classes have smooth distributions, and the minority classes exhibit the compactness property. Furthermore, it focuses on the challenging cases where the support regions of the majority and minority classes overlap. The author has devel

  8. Important Role of FTO in the Survival of Rare Panresistant Triple-Negative Inflammatory Breast Cancer Cells Facing a Severe Metabolic Challenge.

    Directory of Open Access Journals (Sweden)

    Balraj Singh

    Full Text Available We have previously shown that only 0.01% cells survive a metabolic challenge involving lack of glutamine in culture medium of SUM149 triple-negative Inflammatory Breast Cancer cell line. These cells, designated as SUM149-MA for metabolic adaptability, are resistant to chemotherapeutic drugs, and they efficiently metastasize to multiple organs in nude mice. We hypothesized that obesity-related molecular networks, which normally help in cellular and organismal survival under metabolic challenges, may help in the survival of MA cells. The fat mass and obesity-associated protein FTO is overexpressed in MA cells. Obesity-associated cis-acting elements in non-coding region of FTO regulate the expression of IRX3 gene, thus activating obesity networks. Here we found that IRX3 protein is significantly overexpressed in MA cells (5 to 6-fold as compared to the parental SUM149 cell line, supporting our hypothesis. We also obtained evidence that additional key regulators of energy balance such as ARID5B, IRX5, and CUX1 P200 repressor could potentially help progenitor-like TNBC cells survive in glutamine-free medium. MO-I-500, a pharmacological inhibitor of FTO, significantly (>90% inhibited survival and/or colony formation of SUM149-MA cells as compared to untreated cells or those treated with a control compound MO-I-100. Curiously, MO-I-500 treatment also led to decreased levels of FTO and IRX3 proteins in the SUM149 cells initially surviving in glutamine-free medium as compared to MO-I-100 treatment. Interestingly, MO-I-500 treatment had a relatively little effect on cell growth of either the SUM149 or SUM149-MA cell line when added to a complete medium containing glutamine that does not pose a metabolic challenge. Importantly, once selected and cultured in glutamine-free medium, SUM149-MA cells were no longer affected by MO-I-500 even in Gln-free medium. We conclude that panresistant MA cells contain interconnected molecular networks that govern

  9. A rare opportunity beckons

    Energy Technology Data Exchange (ETDEWEB)

    Gschneidner, K

    2011-02-01

    There is a great deal of uncertainty for the future of rare-earth production. Rare-earths are a collection of 17 chemical elements in the periodic table, which include scandium and yttrium as well as the 15 lanthanides, such as dysprosium and ytterbium. China has a stranglehold on today's rare-earth market, which was worth about $3bn in 2010, with the country accounting for about 95% of worldwide production. Yet China's future actions can only be guessed at best. In September it halted shipments of rare-earth elements to Japan over a diplomatic spat concerning the detention of a Chinese trawler captain. Although the ban was later lifted, the episode raised concerns around the world about China's rare-earth monopoly and its use in diplomacy. China has already warned that it will not export any rare-earth material in the coming years as it expects its own consumption of rare-earth metals to increase. The country has introduced export taxes as well as production and export quotas, and also refused to grant any new rare-earth mining licences. Furthermore, because its reserves are limited and China's internal markets are growing so rapidly, the country has suggested it will no longer export products that require rare-earth elements, especially those that need heavy rare-earth elements, such as terbium and dysprosium. China's actions have led to huge rises in the cost of rare-earth materials and products. Dysprosium oxide, for example, has shot up from $36 per kilogram in 2005 to a massive $305 per kilogram by late last year. This could have a huge impact on much of today's electronics industry, given that rare-earth elements are ubiquitous in electric motors, computers, batteries, liquid-crystal displays (LCDs) and mobile phones. Neodymium-iron-boron permanent magnets, for example, are used as computer spindle drives. The question is: what can be done to ensure that China's dominance of the rare-earth industry does not affect the

  10. Pneumatosis intestinalis after etoposide-based chemotherapy in a patient with metastatic small cell lung cancer: successful conservative management of a rare condition.

    Science.gov (United States)

    Faria, Luiza Dib Batista Bugiato; Anjos, Carlos Henrique Dos; Fernandes, Gustavo Dos Santos; Carvalho, Igor Fernando da Silva

    2016-01-01

    A 69-year-old male patient, smoker, was diagnosed with small cell lung cancer metastatic to lung, liver and central nervous system. He received chemotherapy with carboplatin AUC 5 on day 1 and etoposide 100mg/m2 on days 1, 2 and 3. During the first cycle, the patient presented with febrile neutropenia and abdominal distension. Chest, abdomen and pelvis computed tomography scan was performed and detected gas dissecting the wall of sigmoid colon extending to the mesosigmoid. Patient had no abdominal pain, nausea, vomiting, and on physical examination he had no peritoneal irritation, tachycardia or hemodynamic instability compatible with perforation or acute abdomen. Therefore, the radiological finding was interpreted as pneumatosis intestinalis caused by chemotherapy with etoposide. Pneumatosis resolved after continuous oxygen therapy. The second cycle was administered after a complete resolution of the clinical condition and etoposide dose was reduced by 30%. The patient experienced a remarkable evolution. RESUMO Paciente do gênero masculino, 69 anos, fumante, diagnosticado com câncer de pulmão de pequenas células, metastático para pulmão, fígado e sistema nervoso central. Foi administrada quimioterapia com carboplatina AUC 5 no dia 1 e etoposídeo 100mg/m2 nos dias 1, 2 e 3. Durante o primeiro ciclo, o paciente apresentou neutropenia febril e distensão abdominal. Tomografias de tórax, abdome e pelve detectaram gás dissecando a parede do cólon sigmoide, com extensão para o mesossigmoide. O paciente não apresentava dor abdominal, náusea, vômito e não tinha sinais de irritação peritoneal, taquicardia ou instabilidade hemodinâmica compatíveis com perfuração ou abdome agudo. O achado radiológico foi interpretado como pneumatose intestinal causada por etoposídeo. A resolução do quadro ocorreu após suplementação de oxigênio. O segundo ciclo foi administrado após resolução completa do quadro, com redução da dose do quimioterápico em 30

  11. Cancer

    Science.gov (United States)

    Cancer begins in your cells, which are the building blocks of your body. Normally, your body forms ... be benign or malignant. Benign tumors aren't cancer while malignant ones are. Cells from malignant tumors ...

  12. Analysis of rare categories

    CERN Document Server

    He, Jingrui

    2012-01-01

    This book focuses on rare category analysis where the majority classes have smooth distributions and the minority classes exhibit the compactness property. It focuses on challenging cases where the support regions of the majority and minority classes overlap.

  13. Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ July 20~31 Rare earth market still went downward, which was mainly led by sluggish demand for didymium products. Weak demand by domestic NdFeB market was attributed to continuous price falling of didymium mischmetal.

  14. Rare causes of osteoporosis

    OpenAIRE

    Marcucci, Gemma; Brandi, Maria Luisa

    2015-01-01

    Osteoporosis is a metabolic bone disease characterized by loss of bone mass and strength, resulting in increased risk of fractures. It is classically divided into primary (post-menopausal or senile), secondary and idiopathic forms. There are many rare diseases, that cause directly or indirectly osteoporosis. The identification and classification of most of these rare causes of osteoporosis is crucial for the specialists in endocrinology and not, in order to prevent this bone complication and ...

  15. A Rare Cause of Testicular Metastasis: Upper Tract Urothelial Carcinoma

    Directory of Open Access Journals (Sweden)

    Alper Nesip Manav

    2014-01-01

    Full Text Available Metastatic testicular cancers are rare. Primary tumor sources are prostate, lung, and gastrointestinal tract for metastatic testicular cancers. Metastasis of urothelial carcinoma (UC to the testis is extremely rare. Two-thirds of upper tract urothelial carcinoma (UTUC is of invasive stage at diagnosis and metastatic sites are the pelvic lymph nodes, liver, lung, and bone. We report a rare case of metastatic UTUC to the testis which has not been reported before, except one case in the literature. Testicular metastasis of UC should be considered in patients with hematuria and testicular swelling.

  16. Rare kidney tumor provides insight on metabolic changes

    Science.gov (United States)

    Researchers in The Cancer Genome Atlas (TCGA) Network have uncovered a number of new findings about the biology and development of a rare form of kidney cancer. They found that the disease – chromophobe renal cell carcinoma – stems in part from alteratio

  17. A rare splenic pseudocyst

    Science.gov (United States)

    Verma, Ankit; Yadav, Amit; Sharma, Sourabh; Saini, Devender; Om, Prabha; Khoja, Hanuman; Banerjee, Kinjal; NL, Harish

    2013-01-01

    Pseudocysts of the spleen are very rare, found in <1% of the splenectomies done and usually develop secondary to trauma. Pseudocysts of spleen rarely grow to large size and most of these remain asymptomatic, they require exploration only in symptomatic cases and chances for spleen preservation in these cases are usually less. Here, we present two cases of this rare entity developing secondary to abdominal trauma in the past, both presented with complaints of pain and lump in the abdomen. After thorough investigations, laparotomy was done preserving spleen in one case and doing splenectomy in the other. On histopathological examination, diagnosis of splenic pseudocysts was confirmed by the absence of lining epithelium. We would like to report these two cases because of their rarity and as diagnostic dilemmas. PMID:24963908

  18. Rare thyroid non-neoplastic diseases.

    Science.gov (United States)

    Lacka, Katarzyna; Maciejewski, Adam

    2015-01-01

    Rare diseases are usually defined as entities affecting less than 1 person per 2,000. About 7,000 different rare entities are distinguished and, among them, rare diseases of the thyroid gland. Although not frequent, they can be found in the everyday practice of endocrinologists and should be considered in differential diagnosis. Rare non-neoplastic thyroid diseases will be discussed. Congenital hypothyroidism's frequency is relatively high and its early treatment is of vital importance for neonatal psychomotor development; CH is caused primarily by thyroid dysgenesis (85%) or dyshormonogenesis (10-15%), although secondary defects - hypothalamic and pituitary - can also be found; up to 40% of cases diagnosed on neonatal screening are transient. Inherited abnormalities of thyroid hormone binding proteins (TBG, TBP and albumin) include alterations in their concentration or affinity for iodothyronines, this leads to laboratory test abnormalities, although usually with normal free hormones and clinical euthyroidism. Thyroid hormone resistance is most commonly found in THRB gene mutations and more rarely in THRA mutations; in some cases both genes are unchanged (non-TR RTH). Recently the term 'reduced sensitivity to thyroid hormones' was introduced, which encompass not only iodothyronine receptor defects but also their defective transmembrane transport or metabolism. Rare causes of hyperthyroidism are: activating mutations in TSHR or GNAS genes, pituitary adenomas, differentiated thyroid cancer or gestational trophoblastic disease; congenital hyperthyroidism cases are also seen, although less frequently than CH. Like other organs and tissues, the thyroid can be affected by different inflammatory and infectious processes, including tuberculosis and sarcoidosis. In most of the rare thyroid diseases genetic factors play a key role, many of them can be classified as monogenic disorders. Although there are still some limitations, progress has been made in our understanding of

  19. Rare (Earth Elements [score

    Directory of Open Access Journals (Sweden)

    Camilo Méndez

    2014-12-01

    Full Text Available Rare (Earth Elements is a cycle of works for solo piano. The cycle was inspired by James Dillon’s Book of Elements (Vol. I-V. The complete cycle will consist of 14 pieces; one for each selected rare (earth element. The chosen elements are Neodymium, Erbium, Tellurium, Hafnium, Tantalum, Technetium, Indium, Dysprosium, Lanthanium, Cerium, Europium, Terbium, Yttrium and Darmstadtium. These elements were selected due to their special atomic properties that in many cases make them extremely valuable for the development of new technologies, and also because of their scarcity. To date, only 4 works have been completed Yttrium, Technetium, Indium and Tellurium.

  20. Rare decays at LHCb

    CERN Document Server

    Lafferty, George

    2015-01-01

    We review recent results from the LHCb experiment on studies of particle decays that are forbidden or rare in the Standard Model. The studies include searches for lepton flavour violating decays of the $\\tau$ lepton and the $B$ and $D$ mesons, and of $B$ and $D$ meson decays that would be mediated by Majorana neutrinos. Results are also presented for the rare processes $B_s \\to \\mu^+\\mu^-$ and $B^0 \\to \\mu^+\\mu^-$, $D^0 \\to \\pi^+\\pi^-\\mu^+\\mu^-$, $b \\to s\\gamma$ transitions, and $B \\to K^{(*)}\\mu^+\\mu^-$.

  1. A rare case of bilateral oral carcinoma

    Directory of Open Access Journals (Sweden)

    Sonia Behal

    2008-01-01

    Full Text Available Tobacco in different forms is an acknowledged etiologic factor in development of oral cancer. Due to the habit pattern, mostly a single malignant lesion develops. While multiple oral malignancies and second primaries are well reported in the literature, a truly bilateral oral malignancy seems to be a rare occurrence. We report such an occurrence in an individual with an unusual pattern of tobacco habit.

  2. Magnetic rare earth superlattices

    DEFF Research Database (Denmark)

    Majkrzak, C.F.; Kwo, J.; Hong, M.;

    1991-01-01

    Advances in molecular beam epitaxy deposition techniques have recently made it possible to grow, an atomic plane at a time, single crystalline superlattices composed of alternating layers of a magnetic rare earth, such as Gd, Dy, Ho, or Er, and metallic Y, which has an identical chemical structure...

  3. Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    @@ Rare earth market continued drop tendency.There was not much transaction of didymium oxide and the alloy. Affected by reduced order of NdFeB magnetic materials and inactive dealings of didymium mischmetal,price of didymium mischmetal had dropped from RMB ¥95,000~98,000/ton to RMBY 93,000~95,000/ton currently.

  4. Afganistan and rare earths

    Directory of Open Access Journals (Sweden)

    Emilian M. Dobrescu

    2013-05-01

    Full Text Available On our planet, over a quarter of new technologies for the economic production of industrial goods, are using rare earths, which are also called critical minerals and industries that rely on these precious items being worth of an estimated nearly five trillion dollars, or 5 percent of world gross domestic product. In the near future, competition will increase for the control of rare earth minerals embedded in high-tech products. Rare minerals are in the twenty-first century what oil accounted for in the twentieth century and coal in the nineteenth century: the engine of a new industrial revolution. Future energy will be produced increasingly by more sophisticated technological equipment based not just on steel and concrete, but incorporating significant quantities of metals and rare earths. Widespread application of these technologies will result in an exponential increase in demand for such minerals, and what is worrying is that minerals of this type are almost nowhere to be found in Europe and in other industrialized countries in the world, such as U.S. and Japan, but only in some Asian countries, like China and Afghanistan.

  5. Synchronous bilateral breast cancer in a male

    Science.gov (United States)

    Rubio Hernández, María Caridad; Díaz Prado, Yenia Ivet; Pérez, Suanly Rodríguez; Díaz, Ronald Rodríguez; Aleaga, Zaili Gutiérrez

    2013-01-01

    Male breast cancer, which represents only 1% of all breast cancers, is occasionally associated with a family history of breast cancer. Sporadic male breast cancers presenting with another primary breast cancer are extremely rare. In this article, we report on a 70-year-old male patient with bilateral multifocal and synchronous breast cancer and without a family history of breast cancer. PMID:24319497

  6. Cancer

    Science.gov (United States)

    ... uses a surgical tool to remove the tumor.Mohs' surgery. Layers of cancer cells are removed one ... usually have not been approved by the U.S. Food and Drug Administration (FDA). The medicine may have ...

  7. Understanding cancer onset

    DEFF Research Database (Denmark)

    Veldhuis, Djuke

    2015-01-01

    Researchers in Malaysia analysed the genomes of people with a rare genetic disorder to better understand people’s predisposition to cancer across generations.......Researchers in Malaysia analysed the genomes of people with a rare genetic disorder to better understand people’s predisposition to cancer across generations....

  8. Understanding cancer onset

    DEFF Research Database (Denmark)

    Veldhuis, Djuke

    2015-01-01

    Researchers in Malaysia analysed the genomes of people with a rare genetic disorder to better understand people’s predisposition to cancer across generations.......Researchers in Malaysia analysed the genomes of people with a rare genetic disorder to better understand people’s predisposition to cancer across generations....

  9. Japanese Rare Earth Market

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    Since China cancelled export rebate in May this year,prices of magnetic materials related rare earth productscontinuously rose. Increasing production cost is largelyattributed to investment in environmental protectionequipments. Prices of Nd and Dy metals rose 20~30% over thebeginning of this year.Price of Nd was USD 11.5 - 12/Kg from USD 9/Kg at theend of 2004, up 30%. Price of Dy rose to USD 65- 70/Kg fromUSD 50/Kg early this year, up 20%. Price of Pr climbed to USD13.5 - 14/Kg from USD 11/Kg, up 30%. Pri...

  10. Rare B Decays

    Energy Technology Data Exchange (ETDEWEB)

    Jackson, P.D.; /Victoria U.

    2006-02-24

    Recent results from Belle and BaBar on rare B decays involving flavor-changing neutral currents or purely leptonic final states are presented. Measurements of the CP asymmetries in B {yields} K*{gamma} and b {yields} s{gamma} are reported. Also reported are updated limits on B{sup +} {yields} K{sup +}{nu}{bar {nu}}, B{sup +} {yields} {tau}{sup +}{nu}, B{sup +} {yields} {mu}{sup +}{nu} and the recent measurement of B {yields} X{sub s}{ell}{sup +}{ell}{sup -}.

  11. China Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    @@ February, 2010 Rare earth separation plants and downstream producers like NdFeB magnetic materials and phosphor materials successively ceased production due to Spring Festival, Chinese New Year. Transactions in rare earth market were few affected by public holidays.

  12. China Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    @@ Active demands from downstream industry drove the price rise of rare earth products in Chinese domestic marketrecently, particularly didymium and dysprosium products. Prices of other rare earth products remained stable.

  13. China rare earth market review

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Rare earth market fluctuated slightly recently and the transactions remained sluggish. Environment control was strengthened in southern China and many rare earth plants had gone out of production. Some traders were considering selling commodities at low p

  14. Rare B decays at LEP

    CERN Document Server

    Kluit, P M

    2001-01-01

    The results of the LEP experiments for rare B decays will be reviewed, covering hadronic final states, radiative and other rare decays and results for the inclusive charmless branching ratio. (8 refs).

  15. Hunan Rare Earth Group Approved

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    <正>Following Guangdong,Guangxi,Fujian and Jiangxi,Hunan announced that it would consolidate its rare earth resources-the consolidation plan of Hunan Rare Earth Group has been approved. Consolidation of the rare earth industry of south China is in full swing.According to "Several Opinions of the State Council on Promoting the Sustainable and Healthy Development of Rare Earth Industry"(hereinafter referred to as "Several Opinions")released in 2011,

  16. China Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    September 20-30, 2011 Rare earth market remained steady recently. Quoted prices of didymium products by separation and smelting plants kept stable. Some rare earth industrial zones in Baotou, Sichuan and Ganzhou had suspended production with the intensified environmental protection control and consolidation of rare earth industry. Persons in the industry hold a positive attitude toward the rare earth market after the National Day' s holiday in China. The market will develop healthily and orderly in the future.

  17. A rare sight

    CERN Document Server

    Antonella Del Rosso and The LHCb Collaboration

    2012-01-01

    Today, at the Hadron Collider Physics Symposium in Kyoto, the LHCb collaboration has presented the evidence of a very rare B decay, the rarest ever seen. The result further shrinks the region in which scientists can still look for supersymmetry.   The graph showing evidence of the Bs0 → μ+ μ- decay. The result was presented Monday 12 November at the HCP Conference in Kyoto (photo courtesy of the LHCb Collaboration). Particle decays tell us about the inner properties and functioning of Nature’s physics processes. By studying them and their occurrence, physicists infer the rules that control them. Often, it turns out that some rare decays, which are very difficult to observe, are those in which Nature could reveal the presence of new physics. This is the case of some decays of the Bs0 particle (a particle made of a bottom anti-quark bound to a strange quark), and in particular Bs0 → μ+ μ- whose...

  18. China Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    @@ Supply of rare earth concentrate remained tight recently. Rare earth market exhibited rising tendency holistically Affected by tight supply of rare earth concentrate, many plants were operated under the capacity. Supply of didymium oxide got tighter and the price was on rising.

  19. Organizational learning in rare events

    DEFF Research Database (Denmark)

    Andersen, Kristina Vaarst; Beukel, Karin; Tyler, Beverly

    In this paper we build a theoretical framework for understanding whether and how firms learn from the rare event of litigating intellectual property cases. We draw on literature on organizational learning from rare events and examine the conditions under which firms can learn from rare events. We...

  20. A rare case of multiple myeloma initially presenting with pseudoachalasia.

    Science.gov (United States)

    Lazaraki, Georgia; Nakos, Andreas; Katodritou, Eirini; Pilpilidis, Ioannis; Tarpagos, Anestis; Katsos, Ioannis

    2009-01-01

    Pseudoachalasia is a rare clinical entity with clinical, radiographic, and manometric features often indistinguishable from achalasia. Primary adenocarcinomas arising at the gastroesophageal junction or a tumor of the distal esophagus are the most frequent causes of pseudoachalasia. Rarely, processes other than esophagogastric cancers including chronic idiopathic intestinal pseudo-obstruction, amyloidosis, sarcoidosis, Chagas' disease, vagotomy, antireflux surgery, pancreatic pseudocysts, von Recklinghausen's neuroinomatosis, gastrointestinal stromal tumor, and other malignancies and rare genetic syndromes, may lead to the development of pseudoachalasia. Secondary achalasia is extremely rare, with less than 100 cases reported in the literature so far. Gastrointestinal manifestations in primary or secondary amyloidosis include abdominal pain, diarrhea, constipation, malabsorption, obstruction, motility disturbance, intestinal infarction, perforation, and hemorrhage; however, gastrointestinal tract involvement is asymptomatic in most instances. We present here a rare case of multiple myeloma initially presenting with dysphagia because of esophageal amyloidosis and manometric findings typical of achalasia.

  1. A rare case of acute lymphoblastic leukaemia with hemophilia A

    Directory of Open Access Journals (Sweden)

    John Biju

    2009-12-01

    Full Text Available Abstract A rare case of Acute lymphoblastic leukemia with hemophillia in a 12 year old boy is presented in the article. Patient was known case of hemophillia (factor VIII deficiency. He was diagnosed as a case of ALL based on bone marrow examination and immunophenotypic study. Patient was treated as per Children Cancer group guidelines. The main aim of reporting this rare association lies in developing treatment strategies in preventing life threatening bleeding due to this rare association which though may be accidental but need further research.

  2. A Rare Stapes Abnormality

    Directory of Open Access Journals (Sweden)

    Hala Kanona

    2015-01-01

    Full Text Available The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and lack of connection between the stapes superstructure and footplate. The footplate was fixed. Stapedotomy and stapes prosthesis insertion resulted in closure of the air-bone gap by 50 dB. A review of world literature was performed using MedLine. Middle ear ossicular discontinuity can result in significant conductive hearing loss. This can be managed effectively with surgery to help restore hearing. However, some patients may not be suitable or decline surgical intervention and can be managed safely conservatively.

  3. Rarely clicking Muller's ratchets

    Science.gov (United States)

    Eule, Stephan; Metzger, Jakob

    2013-03-01

    In populations of finite size, weakly deleterious mutations can fix by chance. This phenomenon has been termed Muller's ratchet and one click of the ratchet refers to the loss of the fittest class of individuals with the fewest mutations. Despite the simplicity of the classical mathematical model of Muller's ratchet, surprisingly little is known in the biologically relevant regime where a click of the ratchet is a rare event. Here we show numerically that in this regime the rate of the ratchet strongly depends on the applied microscopic formulation (Wiright-Fisher/Moran) of the model, thus challenging the widely used diffusion approximation. Furthermore by employing a WKB-approximation in a simplified model, we obtain analytical results for the click rate, which agree well with the click rate of the full ratchet of the corresponding microscopical model.

  4. Imaging male breast cancer

    Energy Technology Data Exchange (ETDEWEB)

    Doyle, S., E-mail: sdoyle2@nhs.net [Primrose Breast Care Unit, Derriford Hospital, Plymouth (United Kingdom); Steel, J.; Porter, G. [Primrose Breast Care Unit, Derriford Hospital, Plymouth (United Kingdom)

    2011-11-15

    Male breast cancer is rare, with some pathological and radiological differences from female breast cancer. There is less familiarity with the imaging appearances of male breast cancer, due to its rarity and the more variable use of preoperative imaging. This review will illustrate the commonest imaging appearances of male breast cancer, with emphasis on differences from female breast cancer and potential pitfalls in diagnosis, based on a 10 year experience in our institution.

  5. CANCER

    Directory of Open Access Journals (Sweden)

    N. Kavoussi

    1973-09-01

    Full Text Available There are many carcinogenetic elements in industry and it is for this reason that study and research concerning the effect of these materials is carried out on a national and international level. The establishment and growth of cancer are affected by different factors in two main areas:-1 The nature of the human or animal including sex, age, point and method of entry, fat metabolism, place of agglomeration of carcinogenetic material, amount of material absorbed by the body and the immunity of the body.2 The different nature of the carcinogenetic material e.g. physical, chemical quality, degree of solvency in fat and purity of impurity of the element. As the development of cancer is dependent upon so many factors, it is extremely difficult to determine whether a causative element is principle or contributory. Some materials are not carcinogenetic when they are pure but become so when they combine with other elements. All of this creates an industrial health problem in that it is almost impossible to plan an adequate prevention and safety program. The body through its system of immunity protects itself against small amounts of carcinogens but when this amount increases and reaches a certain level the body is not longer able to defend itself. ILO advises an effective protection campaign against cancer based on the Well –equipped laboratories, Well-educated personnel, the establishment of industrial hygiene within factories, the regular control of safety systems, and the implementation of industrial health principles and research programs.

  6. Metastasis at the colostomy site: a rare case report.

    Science.gov (United States)

    Kuo, Yi-Hung; Chin, Chih-Chien; Lee, Kam-Fai

    2012-08-01

    Metastasis at the colostomy site is rare. Most reported patients with such metastases undergo abdominoperineal resection and this kind of metastases happened after a longer period post-cancer surgery. In our patient, because it happened during a short interval between rectal cancer surgery and stoma closure, colostomy site metastasis probably occurred owing to ablative cancer cell reflux and seeding from the obstruction during decompressive colostomy rather than local, lymphatic or haematogenous spread. Meticulous histologic analyses to rule out undetected, concomitant polyps and metachronous cancer are very important for patients with obstructive colorectal cancer who undergo decompressive colostomy. The potential risk of colostomy site metastasis during staged surgery for obstructive colorectal cancer remains uncertain; however, the result from this case report raises the question of such a risk for further studies in a greater number of patients.

  7. Salivary Gland Cancer

    Science.gov (United States)

    ... contains antibodies that can kill germs. Salivary gland cancer is a type of head and neck cancer. It is rare. It may not cause any ... pain in your face Doctors diagnose salivary gland cancer using a physical exam, imaging tests, and a ...

  8. PATIENT REGISTRIES FOR RARE DISEASES

    Directory of Open Access Journals (Sweden)

    Mariela Deliverska

    2016-06-01

    Full Text Available Rare diseases are diseases with a particularly low prevalence. The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a distinctive domain of very high added value. The international reference for classification of diseases and conditions is the International Classification of Diseases (ICD, coordinated by the World Health Organization (WHO. Patient registries and databases constitute key instruments for the development of clinical research in the field of rare diseases. Rare disease registries include not only diseases that are inherently rare, but also common diseases that are rare in specific populations, especially those defined by demographics. Disease registries create the possibility of assessing the long-term safety and benefit of different treatments, perhaps leading to treatment algorithms that allow more choices for patients and clinicians.

  9. China rare earth market review

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    June 20-30 2012 Affected by a sustained slump in the demand from downstream industries, rare earth market remained flat recently. There were not many inquiries for rare earth products in the spot market. Consumers lacked of confidence in the future market. As for the downstream industries, the market of NdFeB magnetic materials and phosphors were in the doldrums. Ceramic, catalyst and polishing powder industries maintained weak. Affected by the global economy, export market of rare earth was weak.

  10. China rare earth market review

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Rare earth market remained weak recently. Dealings of light and heavy rare earth products were sluggish. Demand for didymium and dysprosium related products was soft and purchasers were not interested in replenishing their stocks. The market of NdFeB magnetic materials and phosphors remained inactive. Meanwhile, ceramic, catalyst and polishing powder industries were weak. Affected by global economical recession, export market of rare earth remained weak.

  11. China rare earth market review

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Rare earth market was weak recently. There was still no sign of recovery in NdFeB magnetic materials and phosphors market. The market of ceramic, catalyst and polishing powder were in the doldrums. Rare earth deep processing enterprisers hesitated to purchase rare earth products and considered that there was room for further price reduction. Global economy slowed down and there was no sign of improvement yet. The export market was sluggish and transactions were inactive.

  12. China Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Rare earth market was relatively stable recently. There was not much change to the quotations by suppliers. Inquiries for most products increased in spot market and so did to the transactions. Recently, rare earth special invoices attracted the attention in the industry again. It is likely to result in price rise of many rare earth products if the special invoice system can put into effect in the near term.

  13. China rare earth market review

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    November 1-10, 2012 Some key rare earth producers had paused production since the last ten day period of October in order to retain normal production and market order and stabilize rare earth prices. The production suspension measure by the plants together with severe cracking down on illegal mining by the government had some influence on sluggish market recently. Data showed rapid price increase of major rare earth products after sharp decline previously.

  14. A rare cause of cutanous vasculitis: Anastrosole

    Directory of Open Access Journals (Sweden)

    Didem Arslan Tas

    2014-04-01

    Full Text Available Breast cancer is the most frequently diagnosed type of cancer and the foremost reason of the death of women from cancer. Hormone receptor positive breast cancer is the most frequent type of breast cancer. Anastrosole is one of the aromatase inhibitors which is indicated for early stage of hormone receptor positive breast cancer of postmenopausal women. A 67-year-old woman was refered to Rheumatology Department from Medical Oncology Department for skin rashes which have started 3 months ago. In her medical history, she was diagnosed as infiltrative ductal carcinoma grade-2 in the right breast. She had a modified radical mastectomy operation for the right breast and subsequently, anastrosole was started as her hormone receptor was found positive in histopathological examination. The drug was stopped after 5 years by her oncologist however she went on using the drug on her own demand. Three months before her referral, non-itchy, painless reddish rash was started on legs and arms. After careful physical and laboratory examination and histopathologic alevaluation, she was diagnosed as middle-vessel necrotising vasculitis. Anastrosole was stopped. Steroid and azathyoprine were started. On the fifth month of therapy, all skin lesions were resolved with postinflammatory hyperpigmentation. No additional problem was met. This case report is suggesting that, anastrosole which is a frequently preferred agent in recentyears, could also cause leucocytoclastic vasculits. Very rare cases with cutanous vasculitis were previously presented. This case report suggests that, during the management of patients under anastrosole therapy, cutanous vasculitis should be monitored carefully. [Cukurova Med J 2014; 39(2.000: 369-372

  15. China rare earth market review

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    October 21-31,2012 Recently, dealings of rare earth remained stagnant. Consumers hesitated to increase their stocks for the fear of further decline in rare earth prices. It was difficult for suppliers to sell products and they had reduced quotations to attract buyers. It did not show demand from end users could rebound in short terms. Dealings of rare earth products in spot market were few. The market of NdFeB magnetic materials, phosphors, catalysts, polishing powders and ceramics remained sluggish. There was no sign of picking up in world economy. Export market of rare earths maintained inactive.

  16. China Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Rare earth market remained sluggish and quiet holistically recently. Didymium-related market was quiet and the consumers were hesitating in replenishing their inventories. Inquiries for dysprosium-related products were few and the transactions were inactive, Demand for europium oxide (99.99%) was weak and the trade was far from brisk. Baogang Rare Earth suspended production, which has a positive effect in stabilizing the whole rare earth market. But prices of rare earth products did not go up rapidly. This means there were still large inventories in the market.

  17. Rare times rare: The hyponatremia, rhabdomyolysis, anterior compartment syndrome sequence.

    Science.gov (United States)

    Dubin, Ina; Gelber, Moshe; Schattner, Ami

    2016-05-01

    Primary polydipsia occurs in up to 25% of patients with chronic psychiatric disorders (especially schizophrenia), related to the disease, its treatment or both. Urine output fails to match intake >10 L/day and water intoxication may develop. Rhabdomyolysis is a rare complication of hyponatremia, and an acute anterior compartment syndrome of the leg, an emergency, may be very rarely associated.

  18. Rare Malignancies in Eastern India, Socio-Economic Impact

    OpenAIRE

    Surendra Senapati; Diptirani Samanta; Saumyaranjan Mishra; Chaitali Bose

    2016-01-01

    The etiology of cancer is multifactorial. Various factors, including physical carcinogens, chemicals and viral carcinogens affect patients with known predisposing factors who subsequently develop malignancies. Here is a retrospective study of 18 patients who developed rare malignancies in clinical situations like xeroderma pigmentosum, tuberous sclerosis, neurofibromatosis, hereditary multiple exostosis, second malignancies due to radiotherapy and chronic irritation. The predisposing factors ...

  19. Gastric adenocarcinoma inducing portal hypertension: A rare presentation

    Institute of Scientific and Technical Information of China (English)

    Pradipta Ghosh; Katsumi Miyai; Mario Chojkier

    2007-01-01

    Advanced gastric cancer usually presents with symptoms due to direct extension into adjacent viscera, distant metastases from lymphatic or hematogenic dissemination and peritoneal seeding. However, portal hypertension as a presentation of metastatic gastric cancer is rare and usually seen in association with other malignancies, e.g. hepatocellular and pancreatic carcinoma. We report a case of signet ring adenocarcinoma of the stomach that presented with esophageal and duodenal varices and bleeding due to portal hypertensive gastropathy. Pagetoid spread of cancer cells likely caused early metastasis and the unusual presentation. We also discussed the pathophysiology of development of portal hypertension in association with malignancies.

  20. China's rare-earth industry

    Science.gov (United States)

    Tse, Pui-Kwan

    2011-01-01

    Introduction China's dominant position as the producer of over 95 percent of the world output of rare-earth minerals and rapid increases in the consumption of rare earths owing to the emergence of new clean-energy and defense-related technologies, combined with China's decisions to restrict exports of rare earths, have resulted in heightened concerns about the future availability of rare earths. As a result, industrial countries such as Japan, the United States, and countries of the European Union face tighter supplies and higher prices for rare earths. This paper briefly reviews China's rare-earth production, consumption, and reserves and the important policies and regulations regarding the production and trade of rare earths, including recently announced export quotas. The 15 lanthanide elements-lanthanum, cerium, praseodymium, neodymium, promethium, samarium, europium, gadolinium, terbium, dysprosium, holmium, erbium, thulium, ytterbium, and lutetium (atomic numbers 57-71)-were originally known as the rare earths from their occurrence in oxides mixtures. Recently, some researchers have included two other elements-scandium and yttrium-in their discussion of rare earths. Yttrium (atomic number 39), which lies above lanthanum in transition group III of the periodic table and has a similar 3+ ion with a noble gas core, has both atomic and ionic radii similar in size to those of terbium and dysprosium and is generally found in nature with lanthanides. Scandium (atomic number 21) has a smaller ionic radius than yttrium and the lanthanides, and its chemical behavior is intermediate between that of aluminum and the lanthanides. It is found in nature with the lanthanides and yttrium. Rare earths are used widely in high-technology and clean-energy products because they impart special properties of magnetism, luminescence, and strength. Rare earths are also used in weapon systems to obtain the same properties.

  1. Types of Cancer Teens Get

    Science.gov (United States)

    ... Week of Healthy Breakfasts Shyness Types of Cancer Teens Get KidsHealth > For Teens > Types of Cancer Teens Get A A A What's in this article? ... que padecen los adolescentes Cancer is rare in teens. Certain diseases like breast cancer usually affect adult ...

  2. Left Inguinal Adenopathy Two Years after Cytoreductive Surgery: A Rare Sign of Recurrence

    Directory of Open Access Journals (Sweden)

    Aibek E. Mirrakhimov

    2013-01-01

    Full Text Available Ovarian cancer is the second most common gynecological cancer in the Western world. Despite a good response to treatment, most patients with ovarian cancer will relapse. The abdominal, pelvic, and retroperitoneal cavities represent the most common sites of ovarian cancer recurrence, with inguinal lymph node involvement rarely reported. Herein we report the case of a 48-year-old Caucasian female who underwent successful surgical and chemotherapy treatment for ovarian epithelial cancer. Two years later, the patient was found to have painless left inguinal adenopathy, which was subsequently found to be metastatic ovarian cancer. CA-125 levels were elevated despite the lack of any foci of metabolically active tissue on imaging. Inguinal lymph node involvement is a rare sign of ovarian cancer. Despite that, it is essential to consider ovarian cancer in the differential diagnosis for inguinal lymphadenopathy in a female patient.

  3. Webbed penis: a rare case.

    Science.gov (United States)

    Agrawal, R; Chaurasia, D; Jain, M

    2010-01-01

    Webbed penis belongs to a rare and little-known defect of the external genitalia. The term denotes the penis of normal size for age hidden in the adjacent scrotal and pubic tissues. Though rare, it can be treated easily by surgery. A case of webbed penis is presented with brief review of literature.

  4. Phase stable rare earth garnets

    Energy Technology Data Exchange (ETDEWEB)

    Kuntz, Joshua D.; Cherepy, Nerine J.; Roberts, Jeffery J.; Payne, Stephen A.

    2013-06-11

    A transparent ceramic according to one embodiment includes a rare earth garnet comprising A.sub.hB.sub.iC.sub.jO.sub.12, where h is 3.+-.10%, i is 2.+-.10%, and j is 3.+-.10%. A includes a rare earth element or a mixture of rare earth elements, B includes at least one of aluminum, gallium and scandium, and C includes at least one of aluminum, gallium and scandium, where A is at a dodecahedral site of the garnet, B is at an octahedral site of the garnet, and C is at a tetrahedral site of the garnet. In one embodiment, the rare earth garment has scintillation properties. A radiation detector in one embodiment includes a transparent ceramic as described above and a photo detector optically coupled to the rare earth garnet.

  5. Processing of rare earth concentrates

    Institute of Scientific and Technical Information of China (English)

    Pamela Alex; R. C. Hubli; A.K. Suri

    2005-01-01

    The paper describes process details for extraction of rare earths from an intermediate grade concentrate of Madhya Pradesh region in India and a South African slag. The xenotime concentrate obtained from the former place was an intermediate grade (47%) rare earth phosphate containing both monazite and xenotime. The South African slag was a low-grade waste product typically containing only 4% of rare earths. The rare earth resource concentrates have been treated individually by different methods such as alkali fusion and alkali leaching to convert them into their mixed oxides. Both types of materials have been processed and greater than 98% solubilization of metal values has been achieved in the intermediate grade xenotime and 80% from the South African slag. The residue of xenotime hydroxide has been washed thoroughly to collect the sodium phosphate, as by-product and the slurry pH have been adjusted to separate rare earths from thorium effectively. Other impurities such as uranium and iron have been removed by precipitation of rare earths by oxalic acid. It has been possible to recover >95% yttrium along with other rare earth oxides.

  6. China rare earth market review

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Rare earth market remained stagnant recently. The buyers did not show willingness to replenish raw materials affected by weak demand. Most persons in rare earth circle were not confident with the short-term rare earth market. Demand for didymium mischmetal was soft recently. The market of dysprosium related products was quiet and NdFeB magnet producers were inactive in the purchase. Phosphor market was stagnant as well. Buyers were cautious on replenishing the material. There were few inquiries for europium oxide (99.9%) in spot market and transactions were difficult.

  7. Organizational Learning in Rare Events

    DEFF Research Database (Denmark)

    Vaarst Andersen, Kristina; Beukel, Karin; Tyler, Beverly B.

    When organizations encounter rare events they often find it challenging to extract learning from the experience. We analyze opportunities for organizational learning in one such rare event, namely Intellectual Property (IP) litigation, i.e., when organizations take disputes regarding...... their intellectual property to court. We propose, that organizations can learn to litigate, although it is a rare event, by applying mechanisms in a current litigation case that have been successful in previous litigation cases. However, we also posit, that the usefulness of these learning mechanisms for a current...

  8. Sigmoid schwannoma: A rare case

    Institute of Scientific and Technical Information of China (English)

    Constantine I. Fotiadis; Ilias A. Kouerinis; Ioannis Papandreou; George C. Zografos; George Agapitos

    2005-01-01

    Schwannomas are rare tumors derived from the cells of Schwann that form the neural sheath. When located in the gastrointestinal tract, they constitute together with leiomyoma, leiomyoblastoma, and leiomyosarcoma, the gastrointestinal stromal tumors (GIST). Peripheral nerve sheath tumors represent 2-6% GIST with most common location, the stomach and the small intestine. Schwannomas of the colon and rectum are extremely rare and radical excision with wide margins is mandatory, due to their tendency to recur locally and become malignant, if left untreated. In the present study, we report a rare case of a sigmoid schwannoma, which was successfully treated in our department and reviewed the literature.

  9. "MUCOEPIDERMOID CARCINOMA OF THE LARYNX: REPORT OF A RARE LARYNGEAL TUMOR"

    Directory of Open Access Journals (Sweden)

    S. Z. Madani-Kermani

    2004-06-01

    Full Text Available Mucoepidermoid carcinoma is a neoplasm of salivary gland origin, and its laryngeal occurrence is extremely rare. This malignant tumor is composed of two distinct cell types, the epidermoid and mucus cells. Prognosis is largely dependent on the histologic pattern. In this report, an extremely rare laryngeal cancer and its clinicopathologic features are described.

  10. Organizational Learning in Rare Events

    DEFF Research Database (Denmark)

    Vaarst Andersen, Kristina; Beukel, Karin; Tyler, Beverly B.

    their intellectual property to court. We propose, that organizations can learn to litigate, although it is a rare event, by applying mechanisms in a current litigation case that have been successful in previous litigation cases. However, we also posit, that the usefulness of these learning mechanisms for a current......When organizations encounter rare events they often find it challenging to extract learning from the experience. We analyze opportunities for organizational learning in one such rare event, namely Intellectual Property (IP) litigation, i.e., when organizations take disputes regarding...... to litigate, although litigation is a relatively rare event, if they leverage what they have learned from previously successful litigations. However, learning is less likely to be applicable to contract cases than it will be in infringement cases....

  11. China Rare Earth Holdings Limited

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    China Rare Earth Holdings Limited is a large trans-area corporation and a public company listed in Hong Kong Stock Exchange (Name: China Rare Earth, Code: 0769), with headquarter in Hong Kong. Located on the bank of beautiful Taihu Lake, the subsidiary in Yinxing covers area of 200,000 m2. It has nearly 1,000 employees, 30% of whom are technical staffs. After self-administration and effort, the company passed ISO 9001: 2000 and ISO 14000 Certificaitons.

  12. Rare Gas Halide (RGH) Kinetics.

    Science.gov (United States)

    1988-02-01

    high-energy electron distributions have been made by Elliot and Green8 , and Bretagne , et al., but these calculations were limited to pure rare gases of...model development begins by using the same basic calculation ’ ’ procedure as presented by Bretagne , et al. 9 The distribution of electron energy is...and Bretagne , et al. have proposed empirical formulas for M-shell ionization of argon gas. For other rare gases, the formulas given by Green " and

  13. China Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Rare earth market remained depressed after the New Year affected by the weak demand. Purchaser preferred to consume inventories rather than increase the stockpile. There was a strong wait-and-see atmosphere in the market. Driven by the intense desire to sell out the commodities, traders further decreased their quoted price for rare earth products. Most persons in the market preferred to hold commodities and waited for a rise in the market after the Spring Festival.

  14. China rare earth market review

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    March 21-31,2012 Rare earth market rebounded holistically recently. Price of didymium products rose slightly after being stable for one month. There were also increases in the prices of europium oxide and terbium oxide, which led to a rush by phosphor plants. The market of yttrium-medium and europium-rich minerals remained stagnant though the rare earth market recovered. Price of the mineral was around RMB ¥210,000-250,000/ton.

  15. China Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    November 20-30.2011 Weak demand resulted in the slack rare market. Consumers did not intend to rep earth enish inventories yet and transactions of rare earth products were stagnant. The market of didymium-related products was in the doldrums. Demand for dysprosium-related products was sluggish. Inquiries for europium oxide (99.9%) were few and dealings of the product were difficult.

  16. [Adult-onset rare diseases].

    Science.gov (United States)

    Pfliegler, György; Kovács, Erzsébet; Kovács, György; Urbán, Krisztián; Nagy, Valéria; Brúgós, Boglárka

    2014-03-01

    The present paper is focusing on rare diseases manifesting in late childhood or adulthood. A part of these syndromes are not of genetic origin, such as relatively or absolutely rare infections, autoimmune diseases, tumours, or diseases due to rare environmental toxic agents. In addition, even a large proportion of genetic disorders may develop in adulthood or may have adult forms as well, affecting are almost each medical specialization. Examples are storage disorders (e.g. adult form of Tay-Sachs disease, Gaucher-disease), enzyme deficiencies (e.g. ornithin-transcarbamylase deficiency of the urea cycle disorders), rare thrombophilias (e.g. homozygous factor V. Leiden mutation, antithrombin deficiency), or some rare monogenic disorders such as Huntington-chorea and many others. It is now generally accepted that at least half of the 6-8000 "rare diseases" belong either to the scope of adult-care (e.g. internal medicine, neurology), or to "age-neutral" specialities such as ophtalmology, dermatology etc.).

  17. Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism

    Science.gov (United States)

    Sabanis, Nikos; Gavriilaki, Eleni; Paschou, Eleni; Kalaitzoglou, Asterios; Papanikolaou, Dimitrios; Ioannidou, Pinelopi; Vasileiou, Sotirios

    2015-01-01

    Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism. PMID:26664767

  18. Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    Nikos Sabanis

    2015-01-01

    Full Text Available Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism.

  19. Urachal remnant carcinoma - a rare entity

    Directory of Open Access Journals (Sweden)

    Vanesha Naidu

    2013-06-01

    Full Text Available Primary malignancy of the urachal remnant is a rare neoplasm that accounts for less than 0.01% of all adult cancers, with an estimated annual incidence of 1:5 million. The tumour carries a grave prognosis that attests to its highly aggressive nature. Owing to its extra-peritoneal location, the tumour runs a relatively silent clinical course until late presentation, when most patients display extensive local invasion and metastatic spread. In this report, we highlight a case of primary malignancy of the urachus that on initial clinical evaluation masqueraded as a Sister Mary Joseph’s nodule. Characteristic imaging features, however, proved decisive in establishing the diagnosis of a urachal carcinoma.

  20. NIH study confirms risk factors for male breast cancer

    Science.gov (United States)

    Pooled data from studies of about 2,400 men with breast cancer and 52,000 men without breast cancer confirmed that risk factors for male breast cancer include obesity, a rare genetic condition called Klinefelter syndrome, and gynecomastia.

  1. RARE DISEASES AND GENETIC DISCRIMINATION

    Directory of Open Access Journals (Sweden)

    Mariela Yaneva – Deliverska

    2011-04-01

    Full Text Available Rare diseases are characterised by their low prevalence (less than 1/2,000 and their heterogeneity. They affect both children and adults anywhere in the world. From the medical perspective, rare diseases are characterised by the large number and broad diversity of disorders and symptoms that vary not only from disease to disease, but also within the same disease.Main characteristics of rare diseases include:· Rare diseases are often chronic, progressive, degenerative, and often life-threatening· Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy· High level of pain and suffering for the patient and his/ her family · No existing effective cure· There are between 6000 and 8000 rare diseases· 75% of rare diseases affect children· 30% of rare disease patients die before the age of 5· 80% of rare diseases have identified genetic origins. Other rare diseases are the result of infections (bacterial or viral, allergies and environmental causes, or are degenerative and proliferative.Beyond the diversity of the diseases, rare disease patients and their families are confronted with the same wide range of difficulties arising directly from the rarity of these pathologies. The period between the emergence of the first symptoms and the appropriate diagnosis involves unacceptable and highly risky delays, as well as wrong diagnosis leading to inaccurate treatments. Living with a rare disease has implications in all areas of life, whether school, choice of future work, leisure time with friends, or affective life. It may lead to stigmatisation, isolation, exclusion from social community, discrimination for insurance subscription (health insurance, travel insurance, mortgage, and often reduced professional opportunities.Innovative treatments are often unevenly available in the EU because of delays in price determination and/or reimbursement decision, lack of experience of the treating

  2. Bayesian analysis of rare events

    Energy Technology Data Exchange (ETDEWEB)

    Straub, Daniel, E-mail: straub@tum.de; Papaioannou, Iason; Betz, Wolfgang

    2016-06-01

    In many areas of engineering and science there is an interest in predicting the probability of rare events, in particular in applications related to safety and security. Increasingly, such predictions are made through computer models of physical systems in an uncertainty quantification framework. Additionally, with advances in IT, monitoring and sensor technology, an increasing amount of data on the performance of the systems is collected. This data can be used to reduce uncertainty, improve the probability estimates and consequently enhance the management of rare events and associated risks. Bayesian analysis is the ideal method to include the data into the probabilistic model. It ensures a consistent probabilistic treatment of uncertainty, which is central in the prediction of rare events, where extrapolation from the domain of observation is common. We present a framework for performing Bayesian updating of rare event probabilities, termed BUS. It is based on a reinterpretation of the classical rejection-sampling approach to Bayesian analysis, which enables the use of established methods for estimating probabilities of rare events. By drawing upon these methods, the framework makes use of their computational efficiency. These methods include the First-Order Reliability Method (FORM), tailored importance sampling (IS) methods and Subset Simulation (SuS). In this contribution, we briefly review these methods in the context of the BUS framework and investigate their applicability to Bayesian analysis of rare events in different settings. We find that, for some applications, FORM can be highly efficient and is surprisingly accurate, enabling Bayesian analysis of rare events with just a few model evaluations. In a general setting, BUS implemented through IS and SuS is more robust and flexible.

  3. A Rare Presentation of a Rare Disease: Pulmonary Lymphomatoid Granulomatosis

    Directory of Open Access Journals (Sweden)

    Ghulam Rehman Mohyuddin

    2012-01-01

    Full Text Available A 70-year-old female presented with a 4-week history of dry cough and wheezing. Chest radiograph showed a 10.5 cm mass-like density in the anterior mediastinum which had not been previously visualized. Computed tomography scan (CT of the chest showed a right hilar mass encasing and narrowing right upper lobe bronchus and right mainstem bronchus and secondary atelectatic changes. Biopsy was consistent with a diagnosis of lymphomatoid granulomatosis Grade 3. She responded well clinically and radiologically to therapy. Lymphomatoid granulomatosis is a rare EBV-associated disorder which is considered a lymphoproliferative disease. The most common radiographic feature is multiple lung nodules. An isolated hilar mass is an exceptionally rare presentation of this rare disease.

  4. Radiation therapy for a rare association of maxillary neoplasm in xeroderma pigmentosum: Is it really contraindicated?

    Directory of Open Access Journals (Sweden)

    Saurabh Samdariya

    2016-01-01

    Full Text Available Dermatologic malignancies are common in xeroderma pigmentosum (XP patients; they can develop maxillary sinus cancers on rare occasions. Despite their extreme sensitivity to ultraviolet light, the patients of XP can be treated with standard doses of ionizing radiation for the treatment of cancers. The examples of use of radiotherapy as a treatment modality for maxillary neoplasms in patients of XP are rare. This report highlights a rare association of maxillary carcinoma in a patient of XP who received the tumoricidal doses of therapeutic X-rays with acceptable toxicities.

  5. A rare metastasis from a rare brain tumour

    DEFF Research Database (Denmark)

    Aabenhus, Kristine; Hahn, Christoffer Holst

    2014-01-01

    This case report presents the story of a patient with an oligodendroglioma metastasizing to the bone marrow and to lymph nodes of the neck. The patient had undergone primary brain surgery 13 years prior to the discovery of metastases and radiotherapy directed at the brain tumour two months prior........ Oligodendroglioma are rare primary brain tumours of which extraneural metastasis is even more rare. The incidence of cases like this may be increasing because of better treatment and thus longer survival of patients with oligodendroglioma....

  6. [Adenocarcinoma of lung cancer with solitary metastasis to the stomach].

    Science.gov (United States)

    Koh, Sung Ae; Lee, Kyung Hee

    2014-09-25

    Although hematogenous metastasis of cancer to the gastrointestinal track is rare, it sometime has been reported in patients with malignant melanoma and breast cancer. However, it is extremely rare for lung cancer to metastasize to the stomach, not to mention solitary gastric metastasis. Herein, the authors report a case of a 69-year-old man who was initially diagnosed with lung cancer with synchronous primary gastric cancer which proved to be lung cancer with solitary gastric metastasis after the operation.

  7. Rare Earth Separation in China

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    During the last decade, China rare earth (RE) industry has made significant progress and become one of the most important producers in the world. In this paper, the recent developments in both fundamental research and industrial application are briefly reviewed: (1) the development and application of Theory of Countercurrent Extraction, (2) the novel solvent extraction process and its application in industry for separating heavy rare earth elements (Tm, Yb, Lu), yttrium (Y), and scandium (Sc), (3) the on-line analysis and automatic control of countercurrent extraction, (4) the eco-friendly process for RE/Th separation of bastnasite in Sichuan Province and electrochemical process for Eu/RE separation, and (5) the optimized flowcharts for typical rare earth minerals in China.

  8. Ainhum - A Rare Case Report

    Science.gov (United States)

    Prabhu, Ravi; Vinoth, Sundaresan; Praveen, Chinnappan Balasubramanian

    2016-01-01

    The term ‘AINHUM’ is derived from the African word meaning ‘to saw or cut’. True ainhum otherwise called dactylolysis spontanea is a condition involving soft tissue or digits with constricting rings commonly presenting in fifth toes, usually bilateral. It is to be differentiated from Pseudo-ainhum that occurs secondary to some hereditary and nonhereditary diseases that lead to annular constriction of digits. We report a rare case of true ainhum involving the left fourth toe only. It is a very rare case and a very few were reported worldwide. The highest incidence of ainhum has been reported in South Africa and South America. It is rarely reported in India. Ainhum when diagnosed and treated in early stages can be prevented from progressing to mutilating deformities. PMID:27190888

  9. Meningeal carcinomatosis: an extremely rare involvement of urinary bladder carcinoma.

    Science.gov (United States)

    Uncu, Dogan; Arpaci, Fikret; Beyzadeoglu, Murat; Gunal, Armagan; Surenkok, Serdar; Ozturk, Mustafa; Ozet, Ahmet

    2010-01-01

    Meningeal carcinomatosis (MC) is a rare presentation of solid tumors, particularly breast cancer, lung cancer, and malignant melanoma. Recently, the incidence of MC has been reported to be increasing. It has a bad prognosis despite aggressive therapy. The usual clinical presentation is multifocal involvement of the neuraxis, with headache and radicular pain being the most common initial symptoms. The most frequent signs are motor deficits, altered mental status, and cranial nerve involvement. The treatment of MC remains controversial and no straightforward guidelines exist in the literature. MC from urinary bladder tumors is rare. In this case report, we present a 52-year-old male patient with meningeal metastasis from a primary urinary bladder carcinoma along with a review of the related literature. Free full text available at www.tumorionline.it

  10. Osteosarcoma: A rare case report and review of literature

    Directory of Open Access Journals (Sweden)

    Mallika Kishore

    2016-01-01

    Full Text Available Osteosarcoma of the jaws is a rare, aggressive, malignant mesenchymal tumor with an estimated incidence of 5% in 100,000 of the new cases per year. Osteosarcoma of jaws is a very rare disease and may constitute approximately 1% of all head and neck cancers and only 0.14% of intraoral malignancies. Approximately 7% of all osteosarcomas arise in the jawbones. Diagnosis of the tumor is important, especially in early stages for improving prognosis. Here, we report a rare case of osteosarcoma of chondroblastic variant in a 20-year-old girl, who presented with a bony swelling in the right mandibular posterior region, with a radiographic presentation of sunburst appearance, and the histopathological examination confirmed the diagnosis.

  11. Granulomatous Mastitis: A Rare Cause of Male Breast Lump

    Science.gov (United States)

    Al Manasra, Abdel Rahman A.; Al-Hurani, Mohammad F.

    2016-01-01

    Background Mastitis is a common benign disorder of the female breast. It is frequently associated with tenderness, swelling and nipple discharge. We are describing an extremely rare case of an idiopathic granulomatous mastitis in the male breast. Only 1 previous case was reported. Case Report A 29-year-old male patient presented with a hard, painless lump in the right breast of 2 weeks duration. The patient underwent surgical excision with margin. The histopathologic findings were consistent with granulomatous mastitis. The case was reported as idiopathic granulomatous mastitis after exclusion of all known causes of the disease. Conclusion Granulomatous mastitis is rare in females and extremely rare in male breast tissue. Since this disease mimics breast cancer in its clinical picture and radiologic findings are usually not conclusive, surgical excision is recommended in all cases. PMID:27721777

  12. Zebra: searching for rare diseases

    DEFF Research Database (Denmark)

    2012-01-01

    disease diagnostic hypotheses in the domain of medical IR. In this work, we build upon an existing vertical medical search engine, Zebra, that is focused on rare disease diagnosis. In previous work, Zebra has been evaluated using real-life medical cases of rare and difficult diseases, and has been found...... to be a useful and competitive tool for clinicians. In this work, we extend Zebra’s functionalities to optimise the task of medical diagnosis through search as follows: we add the option of grouping retrieved documents into clusters based on disease name occurrence, and we offer a ‘disease-ranking’ option...

  13. Dioctophymiasis: A Rare Case Report.

    Science.gov (United States)

    Chauhan, Sapna; Kaval, Sunil; Tewari, Swati

    2016-02-01

    Dioctophyma renale commonly known as "giant kidney worm' is found in the kidney of carnivorous mammals. Human infestation is rare, but results in destruction of the kidneys. Very few cases have been reported worldwide. We are here reporting a case of Dioctophymiasis in a 35-year-old male patient who presented with retention of urine and subsequent passage of worm and blood in urine. The worm was confirmed as Dioctophyma renale based on its morphology and clinical presentation. This is a very rare case report and to best of our knowledge only two cases have been reported from India.

  14. China Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    August 20-31, 2011 Rare earth market did not show the sign of picking-up and remained stagnant recently. Most suppliers continued to decrease their quoted price, but leading producers in northern and southern China did not adjust their quoted price. Most rare earth plants in southern China had not yet resumed production. Quoted price of didymium products swung and the quoted prices of dysprosium-related products were slipping affected by weak demand. Inquiries for europium oxide were decreasing affected by the slow phosphor market.

  15. Adrenocortical cancer

    DEFF Research Database (Denmark)

    Payabyab, Eden C.; Balasubramaniam, Sanjeeve; Edgerly, Maureen

    2016-01-01

    The development of new therapies has lagged behind for rare cancers without defined therapeutic targets. Adrenocortical cancer is no exception. Mitotane, an older agent considered "adrenolytic," is used both to control symptoms in advanced disease and as adjuvant therapy after surgical resection....... Molecular characterization of adrenocortical cancer has deepened our understanding of this genetically complex disease while identifying subgroups whose importance remains to be determined. Unfortunately, such studies have yet to demonstrate a therapeutic target for drug development, and to date......, no targeted therapy has achieved meaningful outcomes. Consequently, first-line therapy for metastatic disease remains a combination regimen of etoposide, doxorubicin, and cisplatinum established in a randomized clinical trial. In addition to evaluating recent studies in adrenocortical cancer, we raise one...

  16. Anything Rare is Possible: Letrozole Induced Eczematous Skin Eruption

    OpenAIRE

    Tripathy, Amruta; Kumari K, Meena; Babu A.V., Mohan; Sathish B Pai; Kumar D., Mahesh

    2014-01-01

    Letrozole is used as first line drug in postmenopausal women with early-stage or advanced hormone-sensitive breast cancer. Letrozole has favourable tolerability profile when administered once daily and significant adverse reactions occur rarely. The objective of this report is to describe a case of eczematous skin eruption that occurred during letrozole treatment. A 61-year-old female patient was admitted with lump in the left breast. FNAC, HPE were done and the patient was diagnosed to have ...

  17. Penile Cancer

    Science.gov (United States)

    Clark, Peter E.; Spiess, Philippe E.; Agarwal, Neeraj; Biagioli, Matthew C.; Eisenberger, Mario A.; Greenberg, Richard E.; Herr, Harry W.; Inman, Brant A.; Kuban, Deborah A.; Kuzel, Timothy M.; Lele, Subodh M.; Michalski, Jeff; Pagliaro, Lance; Pal, Sumanta K.; Patterson, Anthony; Plimack, Elizabeth R.; Pohar, Kamal S.; Porter, Michael P.; Richie, Jerome P.; Sexton, Wade J.; Shipley, William U.; Small, Eric J.; Trump, Donald L.; Wile, Geoffrey; Wilson, Timothy G.; Dwyer, Mary; Ho, Maria

    2014-01-01

    Squamous cell carcinoma of the penis represents approximately 0.5% of all cancers among men in the United States and other developed countries. Although rare, it is associated with significant disfigurement, and only half of the patients survive beyond 5 years. Proper evaluation of both the primary lesion and lymph nodes is critical, because nodal involvement is the most important factor of survival. The NCCN Clinical Practice Guidelines in Oncology for Penile Cancer provide recommendations on the diagnosis and management of this devastating disease based on evidence and expert consensus. PMID:23667209

  18. Rare exonic minisatellite alleles in MUC2 influence susceptibility to gastric carcinoma.

    Directory of Open Access Journals (Sweden)

    Yun Hee Jeong

    Full Text Available BACKGROUND: Mucins are the major components of mucus and their genes share a common, centrally-located region of sequence that encodes tandem repeats. Mucins are well known genes with respect to their specific expression levels; however, their genomic levels are unclear because of complex genomic properties. In this study, we identified eight novel minisatellites from the entire MUC2 region and investigated how allelic variation in these minisatellites may affect susceptibility to gastrointestinal cancer. METHODOLOGY/PRINCIPLE FINDINGS: We analyzed genomic DNA from the blood of normal healthy individuals and multi-generational family groups. Six of the eight minisatellites exhibited polymorphism and were transmitted meiotically in seven families, following Mendelian inheritance. Furthermore, a case-control study was performed that compared genomic DNA from 457 cancer-free controls with DNA from individuals with gastric (455, colon (192 and rectal (271 cancers. A statistically significant association was identified between rare exonic MUC2-MS6 alleles and the occurrence of gastric cancer: odds ratio (OR, 2.56; 95% confidence interval (CI, 1.31-5.04; and p = 0.0047. We focused on an association between rare alleles and gastric cancer. Rare alleles were divided into short (40, 43 and 44 and long (47, 50 and 54, according to their TR (tandem repeats lengths. Interestingly, short rare alleles were associated with gastric cancer (OR = 5.6, 95% CI: 1.93-16.42; p = 0.00036. Moreover, hypervariable MUC2 minisatellites were analyzed in matched blood and cancer tissue from 28 patients with gastric cancer and in 4 cases of MUC2-MS2, minisatellites were found to have undergone rearrangement. CONCLUSIONS/SIGNIFICANCE: Our observations suggest that the short rare MUC2-MS6 alleles could function as identifiers for risk of gastric cancer. Additionally, we suggest that minisatellite instability might be associated with MUC2 function in cancer cells.

  19. Rare B decays at CDF

    Energy Technology Data Exchange (ETDEWEB)

    Farrington, Sinead M.; /Liverpool U.

    2006-10-01

    The confidence level limits of the CDF search for the B{sub s}{sup 0} and B{sub d}{sup 0} {yields} {mu}{sup +}{mu}{sup -} rare decays and the branching ratio measurement of B{sub s}{sup 0} {yields} D{sub s}{sup +} D{sub s}{sup -} are presented.

  20. Rare diseases and orphan drugs

    Directory of Open Access Journals (Sweden)

    Domenica Taruscio

    2011-01-01

    Full Text Available According to the Regulation (EC N. 141/2000 of the European Parliament and of the Council, rare diseases are life-threatening or chronically debilitating conditions, affecting no more than 5 in 10 000 persons in the European Community. It is estimated that between 6000 to 8000 distinct rare diseases affect up to 6% of the total EU population. Therefore, these conditions can be considered rare if taken individually but they affect a significant proportion of the European population when considered as a single group. Several initiatives have been undertaken at international, European and national level to tackle public health as well as research issues related to the prevention, diagnosis, treatment and surveillance of these diseases. The development of innovative and effective medical products for their diagnosis and treatment is frequently hampered by several factors, including the limited knowledge of their natural history, the difficulties in setting up clinical studies due to the limited numbers of patients affected by a specific disease, the weak interest of sponsors due to the restricted market opportunities. Therefore, incentives and other facilitations have been adopted in many parts of the world, including in the EU, in order to facilitate the development and commercialization of diagnostic tools and treatments devoted to rare diseases. This paper illustrates mainly the European initiatives and will discuss the problematic and controversial aspects surrounding orphan drugs. Finally, activities and measures adopted in Italy are presented.

  1. Rare red blood cell abnormalities

    NARCIS (Netherlands)

    van Zwieten, R.

    2015-01-01

    The aim of this thesis is to give insight in the process of diagnosing rare red blood cell defects, to clarify the relation of a defect with cell function and to extend, in this respect, our knowledge about normal red cell function and biochemistry. It is possible to categorize different red cell ab

  2. Rare decays of b hadrons

    CERN Document Server

    Koppenburg, Patrick; Smizanska, Maria

    2016-01-01

    Rare decays of b hadrons provide a powerful way of identifying contributions from physics beyond the Standard Model, in particular from new hypothetical particles too heavy to be produced at colliders. The most relevant experimental measurements are reviewed and possible interpretations are briefly discussed.

  3. Genetic analysis of rare disorders

    DEFF Research Database (Denmark)

    van den Berg, Stéphanie M; von Bornemann Hjelmborg, Jacob

    2012-01-01

    Twin concordance rates provide insight into the possibility of a genetic background for a disease. These concordance rates are usually estimated within a frequentistic framework. Here we take a Bayesian approach. For rare diseases, estimation methods based on asymptotic theory cannot be applied due...

  4. Metacomprehension during Rare Word Comprehension

    Science.gov (United States)

    Mcginnis, Debra; Saunders, Nikola N.; Burns, Ryan J.

    2007-01-01

    To examine metacomprehension during comprehension, undergraduates (n = 133) were asked to provide descriptions of how they determined the meaning of four rare words presented in short passages. Content analysis of these written descriptions revealed task-specific metacomprehension reflecting lexical, textbase, and situation model processes.…

  5. Spinal actinomycosis: A rare disease

    Directory of Open Access Journals (Sweden)

    Dua Rakesh

    2010-01-01

    Full Text Available Actinomycosis is an indolent, slowly progressive infection caused by Actinomyces species. Of human actinomycosis, the spinal form is rare and actinomycosis-related spinal neurological deficit is uncommon. We report two cases with cervical and dorsal actinomycosis and one of them with spinal neurological deficit.

  6. Rare presentation of biliary ascariasis.

    Science.gov (United States)

    Rather, Ajaz; Salati, Sajad Ahmad

    2010-09-01

    Ascariasis is the most common helminthic infection in the world. We present a very rare manifestation of ascariasis in which the worms came out through the T-tube tract of a 36 years old patient who had undergone cholecystectomy with choledocholithotomy.

  7. Cardiofaciocutaneous syndrome: A rare entity

    Directory of Open Access Journals (Sweden)

    S Pavithra

    2012-01-01

    Full Text Available The cardiofaciocutaneous (CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

  8. China Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    June 20-30, 2011 Prices of heavy rare earth products remained soaring. The same happened to dysprosium and its related products due to tight supply. Separation plants held tightly of europium oxide. Refining plants took a positive attitude toward the ma

  9. Rare cause of subcutaneous emphysema

    Energy Technology Data Exchange (ETDEWEB)

    Prober, A.; Tverskoy, M.

    1986-12-01

    A rare cause of subcutaneous emphysema is described which developed in two patients after epidural anaesthesia. Only two case reports could be found in literature describing similar conditions. The anaesthesia is performed using the 'loss of resistance' technique with injection of air for the identification of the epidural space. Possible explanations for the development of the emphysema are discussed.

  10. A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

    Science.gov (United States)

    Nakamura, Kotoka; Fike, Francesca; Haghayegh, Sara; Saunders-Pullman, Rachel; Dawson, Angelika J; Dörk, Thilo; Gatti, Richard A

    2014-07-01

    We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia-telangiectasia (A-T) that is characterized by early-onset dystonia and late-onset mild ataxia, as previously described. This report provides the pathogenetic evidence for this mutation on cellular functions. Several patients have developed cancer and subsequently experienced life-threatening adverse reactions to radiation (radiotoxicity) and/or chemotherapy. As the c.6200C>A mutation is, thus far, unique to the Mennonite population and is always associated with the same haplotype or haplovariant, it was important to rule out any possible confounding DNA variant on the same haplotype. Lymphoblastoid cells derived from Mennonite patients expressed small amounts of ATM protein, which had no autophosphorylation activity at ATM Ser1981, and trace-to-absent transphosphorylation of downstream ATM targets. A-T lymphoblastoid cells stably transfected with ATM cDNA which had been mutated for c.6200C>A did not show a detectable amount of ATM protein. The same stable cell line with mutated ATM cDNA also showed a trace-to-absent transphosphorylation of downstream ATM targets SMC1pSer966 and KAP1pSer824. From these results, we conclude that c.6200A is the disease-causing ATM mutation on this haplotype. The presence of at least trace amounts of ATM kinase activity on some immunoblots may account for the late-onset, mild ataxia of these patients. The cause of the dystonia remains unclear. Because this dystonia-ataxia phenotype is often encountered in the Mennonite population in association with cancer and adverse reactions to chemotherapy, an early diagnosis is important.

  11. Histiocytosis X and Bronchopulmonary Adenocarcinoma: A Rare Coexistence

    Directory of Open Access Journals (Sweden)

    Akýn Kaya

    2002-01-01

    Full Text Available There exists a rarely observed association between pulmonary histiocytosis X and bronchopulmonary cancer. However, the frequency of bronchopulmonary cancer in these patients is higher than in the general population. A 28-year-old patient who currently smokes ten packs of cigarettes a year came to our department of pneumology with complains of cough and hemoptysis. An x-ray of the thorax revealed bilateral cysts and a shadow in the upper part of the right pulmonary field. In addition, a chest tomography showed multiple cysts dispersed throughout the two pulmonary fields and an irregular mass with a diameter of four centimetres in the upper right lobe. Bronchopulmonary adenocarcinoma was diagnosed during a cytologic exam of the bronchial washing. We decided to perform a thoracotomy on the patient, since there was no far metastasis. An upper lobectomy and wedge resection of the upper segment of the lower right lobe, which had been invaded by the tumour, were performed. Histology confirmed the diagnosis of adenocarcinoma. A pulmonary biopsy was carried out on the tumour-free site and showed the presence of histiocytosis X. There is a hypothesis that a neoplasm developed on the pulmonary fibrosis could be an epiphenomenon of bronchopulmonary cancer in patients who smoke and have pulmonary histiocytosis X. It is interesting to note that histiocytosis X and bronchopulmonary cancer were diagnosed at the same time, since the bronchopulmonary cancer may have occurred within a few years following the diagnosis of histiocytosis X, even if she was a smoker. Hemoptysis, which is found in 5% of patients with histiocytosis X, may suggest cancer. This young patient, a smoker, who complained of hemoptysis, is a particularly rare case of the association between pulmonary histiocytosis X and bronchopulmonary cancer whose pathogenesis is not clear cut. It is thus important to note that smoking can have major consequences, even in young people.

  12. Pancreatic Cancer Genetics

    OpenAIRE

    Amundadottir, Laufey T.

    2016-01-01

    Although relatively rare, pancreatic tumors are highly lethal [1]. In the United States, an estimated 48,960 individuals will be diagnosed with pancreatic cancer and 40,560 will die from this disease in 2015 [1]. Globally, 337,872 new pancreatic cancer cases and 330,391 deaths were estimated in 2012 [2]. In contrast to most other cancers, mortality rates for pancreatic cancer are not improving; in the US, it is predicted to become the second leading cause of cancer related deaths by 2030 [3, ...

  13. Teeth in Rare Locations with Rare Complications: An Overview

    OpenAIRE

    Dhingra, Shruti; Gulati, Achal

    2015-01-01

    Ectopic presence of teeth within the dentate region is common in clinical practice. However, the presence of teeth in non-dentate areas such as the nasal cavity or the maxillary sinus is rare. These may remain asymptomatic for years, may be misdiagnosed as foreign bodies, or may present with some serious complications involving the nose and paranasal sinuses. Complications such as nasal obstruction, epistaxis, headaches, rhinolith formation, epiphora, sinusitis and oro-antral fistula have bee...

  14. Rare events: a state of the art

    Energy Technology Data Exchange (ETDEWEB)

    Uppuluri, V.R.R.

    1980-12-01

    The study of rare events has become increasingly important in the context of nuclear safety. Some philosophical considerations, such as the framework for the definition of a rare event, rare events and science, rare events and trans-science, and rare events and public perception, are discussed. The technical work of the Task Force on problems of Rare Events in the Reliability Analysis of Nuclear Plants (1976-1978), sponsored by OECD, is reviewed. Some recent technical considerations are discussed, and conclusions are drawn. The appendix contains an essay written by Anne E. Beachey, under the title: A Study of Rare Events - Problems and Promises.

  15. Development Trend of Rare Earth Standardion Work

    Institute of Scientific and Technical Information of China (English)

    Ma Jie; Lin Jirong; Zhao Fei; Zhang Xiuyan

    2004-01-01

    Rare earth standardization was developed along with rare earth industry.In recent decades, great advances have been made in China rare earth industry.This paper describes the status of rare earth standardization, problems existed and ways to perfect.Now the number of Chinese Rare Earth Standards has increased to 232 with expanding of the categories and covering scope of rare earth products.But the present standard system cannot be completely suited with rare earth production and trade, and not keep pace with the advance of technology.Standards are important rules in world trade and must be acted on.

  16. Tensions on rare metals; Tensions sur les metaux rares

    Energy Technology Data Exchange (ETDEWEB)

    Rigaud, Ch.

    2010-06-15

    Rare earths that are used in the high or green technologies are facing short term shortages due to the steadily increasing demand and to the fact that some countries are reluctant to export them. For instance neodymium is used to make permanent magnets for the new generation of wind turbines. A year ago the price of neodymium was 14 dollar a kg while today it is priced at 40 dollar a kg, its production stagnates at 24000 tonnes a year which is just enough to meet the demand. The fear of shortage is high for thin layers in which tellurium, indium and germanium are involved. It is possible to act at any level of the production chain: to optimize the industrial production processes, to reduce the thickness of the thin layers, to recycle discarded equipment, to propose alternative solution: for instance the kesterite ore is studied in view of replacing indium in photovoltaic applications. The issue of rare earths or other rare metals begins to appear on government agenda. (A.C.)

  17. [Care for patients with rare diseases].

    Science.gov (United States)

    Smetsers, Stephanie E; Takkenberg, J J M Hanneke; Bierings, Marc B

    2014-01-01

    A rare disease usually concerns only a handful of patients, but all patients with a rare disease combined represent a significant health burden. Due to limited knowledge and the absence of treatment guidelines, patients with rare diseases usually experience delayed diagnosis and suboptimal treatment. Historically, rare diseases have never been considered a major health problem. However, rare diseases have recently been receiving increased attention. In the Netherlands, a national plan for rare diseases was published in late 2013, with recommendations on how to improve the organisation of healthcare for people with rare diseases. Using the example of the rare disease Fanconi anemia, this paper describes the challenges and opportunities in organising healthcare for rare diseases. Two critical steps in optimising healthcare for rare diseases are developing multidisciplinary healthcare teams and stimulating patient empowerment. Optimal cooperation between patients, patient organisations, multidisciplinary healthcare teams and scientists is of great importance. In this respect, transition to adult healthcare requires special attention.

  18. Discovery – Methotrexate: Chemotherapy Treatment for Cancer

    Science.gov (United States)

    Prior to the 1950s, treatment for the majority of cancers was limited to either surgery or the use of radiation. The discovery of the use of methotrexate in curing a rare cancer marked the first time a cancer had been cured. This led to the development of many of today’s common cancer treatments.

  19. Therapeutic implications of colon cancer stem cells

    Institute of Scientific and Technical Information of China (English)

    Eros; Fabrizi; Simona; di; Martino; Federica; Pelacchi; Lucia; Ricci-Vitiani

    2010-01-01

    Colorectal cancer is the second most common cause of cancer-related death in many industrialized countries and is characterized by a heterogenic pool of cells with distinct differentiation patterns. Recently, the concept that cancer might arise from a rare population of cells with stem cell-like properties has received support with regard to several solid tumors, including colorectal cancer. According to the cancer stem cell hypothesis, cancer can be considered a disease in which mutations either convert no...

  20. Neonatal hemophilia: a rare presentation

    Directory of Open Access Journals (Sweden)

    Nuno Ferreira

    2015-12-01

    Full Text Available Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unremarkable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding.

  1. Chondroectodermal dysplasia: a rare syndrome.

    Directory of Open Access Journals (Sweden)

    Dana Tahririan

    2014-06-01

    Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

  2. Diphtheria rare localization in adults

    Directory of Open Access Journals (Sweden)

    Yu. I. Liashenko

    2011-01-01

    Full Text Available Last 25 years in the country established sporadic diphtheria morbidity (less than 0.1 per 100 000 people. In this situation, the attention of medical specialists pre-hospital and hospital health care system is reduced, especially for diseases with a rare localization of pathological process. Mentioned circumstances contribute to delayed diagnosis and treatment of his patients, the major cause of complicated infection, often its unfavorable outcome and a factor of the epidemic of trouble for the infection. The authors present material evidence that the rare forms of diphtheria in the period of sporadic disease in much the same as in the epidemic, and describe the clinical manifestations and course of diphtheria of the nose, eyes, throat, genitals, mouth and gastrointestinal tract in modern conditions.

  3. Erythromelalgia: a rare microvascular disease.

    Science.gov (United States)

    Latessa, Victoria

    2010-06-01

    Erythromelalgia (EM) is a rare condition of unknown etiology that results in intense, burning pain and redness primarily of the feet, and, even more rarely, in the hands. Most cases are idiopathic (primary EM); others occur secondary to medical conditions, such as autoimmune diseases, and neurological or hematological disorders. Symptoms are episodic and can result in severe disability. Triggers, such as exposure to warmth, pressure or exercise, become apparent to those afflicted with this condition; however, triggers may be unavoidable during the course of daily living. There are no diagnostic tests for EM. Diagnosis is based on history, physical examination during symptomatic episode and the exclusion of other probable causes for the syndrome. Early recognition of the signs and symptoms as well as early treatment offer patients the best hope of remissions and improved quality of life.

  4. Rare decay searches at CDF

    CERN Document Server

    Maestro, Paolo

    2012-01-01

    In the last decade the CDF experiment at the Tevatron clearly demonstrated that it is possible to study extensively heavy flavour physics in hadron collisions and achieve remarkable results, competitive and complementary to $B$-factories. In this paper we report on the indirect searches for physics beyond the standard model via measurements of rare $b$-hadron decays. The final limits, based on the analysis of the full CDF data set, on the branching fraction of the $B^0_{(s)}$ decay into a pair of muons are presented and discussed. Moreover we review the latest measurements, with 6.8 fb$^{-1}$ of collected data, of the total and differential branching fractions and angular observables of rare $b$-hadron decays proceeding via the flavour-changing neutral-current process $b \\rightarrow s \\mu^+ \\mu^-$. PACS numbers: 13.20.He, 13.30.-a, 12.15.Mn

  5. Replica trick for rare samples

    Science.gov (United States)

    Rizzo, Tommaso

    2014-05-01

    In the context of disordered systems with quenched Hamiltonians I address the problem of characterizing rare samples where the thermal average of a specific observable has a value different from the typical one. These rare samples can be selected through a variation of the replica trick which amounts to replicating the system and dividing the replicas intwo two groups containing, respectively, M and -M replicas. Replicas in the first (second) group experience a positive (negative) small field O (1/M) conjugate to the observable considered and the M →∞ limit is to be taken in the end. Applications to the random-field Ising model and to the Sherrington-Kirkpatrick model are discussed.

  6. Rare Mycetes of Romania III

    Directory of Open Access Journals (Sweden)

    Denes PAZMANY

    1981-08-01

    Full Text Available New contributions to the knowledges concerning Romania's macromycetes are presented. The 208 species enlisted in the paper are grouped in classes and orders and within these groups the species are enlisted alphabetically. The data refers to species less known to Romania, collected in Transylvania, mostly around Cluj-Napoca. From these Daldinia vernicosa, Pleurotus calyptratus, Agaricus pseudopratensis, Armillariella bulbosa, Clitocybe harmajae and Tubaria hiemalis are rare in all Europe.

  7. Rare Earth Oxide Thin Films

    CERN Document Server

    Fanciulli, Marco

    2007-01-01

    Thin rare earth (RE) oxide films are emerging materials for microelectronic, nanoelectronic, and spintronic applications. The state-of-the-art of thin film deposition techniques as well as the structural, physical, chemical, and electrical properties of thin RE oxide films and of their interface with semiconducting substrates are discussed. The aim is to identify proper methodologies for the development of RE oxides thin films and to evaluate their effectiveness as innovative materials in different applications.

  8. Os Odontoideum: Rare Cervical Lesion

    Science.gov (United States)

    2011-11-01

    the articulation between C1 and the os odontoideum on flexion imaging. The remainder of his cervical vertebral bodies had normal alignment with no...appears normal. Figure 3. Flexion view of plain cervical spine. This image shows abnormal translation of the articulation between C1 and the C2 os...worldwide. Peer Reviewed Title: Os Odontoideum: Rare Cervical Lesion Journal Issue: Western Journal of Emergency Medicine, 12(4) Author: Robson

  9. Cutaneous actinomycosis: A rare case

    Directory of Open Access Journals (Sweden)

    Metgud S

    2007-01-01

    Full Text Available Cutaneous actinomycosis is a rare presentation. Here we present a case of cutaneous actinomycosis with no history of trauma or systemic dissemination. The isolate was identified as Actinomyces viscosus by standard methods. The isolate was found to be penicillin resistant by Kirby Bauer disc diffusion method. Therefore, the patient was treated with cotrimoxazole and improved. Thus, this case highlights the importance of isolation and susceptibility testing in actinomycotic infection. The sinuses have healed, and the patient has recovered.

  10. Os Odontoideum: Rare Cervical Lesion

    Directory of Open Access Journals (Sweden)

    Kristie A Robson

    2011-05-01

    Full Text Available We report the case of a 22-year-old Marine who presented to the emergency department, after a martial arts exercise, with transient weakness and numbness in all extremities. Computed tomography cervical spine radiographs revealed os odontoideum. Lateral flexion–extension radiographs identified atlanto-axillary instability. This abnormality is rare and can be career ending for military members who do not undergo surgical fusion. [West J Emerg Med. 2011;12(4:520–522.

  11. Rare Earths and Magnetic Refrigeration

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Magnetic refrigeration is a revolutionary, efficient, environmentally friendly cooling technology, which is on the threshold of commercialization. The magnetic rare earth materials are utilized as the magnetic refrigerants in most cooling devices, and for many cooling application the Nd2Fe14B permanent magnets are employed as the source of the magnetic field. The status of the near room temperature magnetic cooling was reviewed.

  12. Macrodystrophia lipomatosa: a rare presentation

    Directory of Open Access Journals (Sweden)

    Sushil G. Kachewar

    2011-07-01

    Full Text Available Macrodystrophia lipomatosa is a rare congenital nonhereditary mesenchymal hamartomatous malformation resulting in localized gigantism of parts of extremities that manifests clinically as macrodactyly or megalodactyly. Radiological and Pathological hallmark is the disproportionate fibroadipose tissue proliferation in subcutaneous tissue, nerve sheaths, and periosteum that leads to soft tissue and bony enlargement. As imaging is the key to early diagnosis, findings on various modalities like plain radiographs, CT scan and MRI are highlighted here.

  13. Rare locations of calcifying tendinitis

    Energy Technology Data Exchange (ETDEWEB)

    Nidecker, A.; Hartweg, H.

    1983-12-01

    5 case-reports illustrate 2 rare locations of calcifying peritendinitis: The insertion of the deltoid tendon in the proximal humreus and the insertion of the gluteus maximus tendon in the femur. Knowledge of these insertion sites on one hand and the possibility of calcifying tendinitis at these sites on the other hand may allow proper diagnosis of certain shoulder- and hip joint pain syndromes and subsequent correct therapy.

  14. TRAP SYNDROME: A RARE ENTITY

    OpenAIRE

    Varsha; Kanan; Chanda,, Abhra; Qazi,, S.

    2014-01-01

    TRAP (Twin Reversed Arterial Perfusion) sequence is a rare complication of monozygotic twin pregnancy. It is due to defect in early pregnancy where there is defective arterial anastomosis in placenta. This results in a fetus with an absent heart (acardiac twin). This acardiac twin has a poorly developed upper body and head also. The pump twin (with a normal heart) is also at a risk of heart failure and problems related to preterm birth1.

  15. TRAP SYNDROME: A RARE ENTITY

    Directory of Open Access Journals (Sweden)

    Varsha

    2014-04-01

    Full Text Available TRAP (Twin Reversed Arterial Perfusion sequence is a rare complication of monozygotic twin pregnancy. It is due to defect in early pregnancy where there is defective arterial anastomosis in placenta. This results in a fetus with an absent heart (acardiac twin. This acardiac twin has a poorly developed upper body and head also. The pump twin (with a normal heart is also at a risk of heart failure and problems related to preterm birth1.

  16. A rare presentation of hypothyroidism

    Directory of Open Access Journals (Sweden)

    Betsy Mathew

    2014-02-01

    Full Text Available In this case report, we have brought out a very rare presentation of hypothyroidism in the form of cataplexy and this case is of significance because there have been no similar case reports of hypothyroidism presenting as cataplexy so far. The other highlight of the case is that treatment of hypothyroidism alone resulted in complete freedom from cataplexy without the need for agrypnotic drugs. [Int J Res Med Sci 2014; 2(1.000: 328-329

  17. Rett syndrome: A rare case

    Directory of Open Access Journals (Sweden)

    Deepika Verma

    2016-01-01

    Full Text Available Rett syndrome (RTT is rare, affects predominantly female children. It presents as a pervasive developmental disorder with a remarkable behavioral phenotype. The discovery that mutation in methyl-C-phosphate-G-binding protein 2 causes RTT has focused attention to the importance of epigenetic modifications in neuronal function. We report a case of RTT in a 7-year-old female child and use of behavioral techniques and social skill training to control the behavioral symptoms.

  18. Rare beauty decays at LHCb

    CERN Document Server

    INSPIRE-00258140

    2015-01-01

    In this contribution we review the most recent measurements of the LHCb experiment in the field of rare decays of B mesons. In particular the first observation of the $B^0_s \\to µ^+ µ^-$,­ decay, the angular analysis of $B^0_d \\to K*l^+l^-$ decays and the test of lepton universality in $B^+ \\to K^+ l^+ l^-$ decays are presented.

  19. Collagenous Gastritis: A Rare Entity

    Directory of Open Access Journals (Sweden)

    Faten Limaiem

    2015-06-01

    Full Text Available Collagenous gastritis is a rare entity of unknown etiology characterized histologically by the presence of a thick subepithelial collagen band associated with an inflammatory infiltrate of gastric mucosa. A 40-year-old male presented with a history of chronic intermittent abdominal pain for about 6 months. Physical examination was unremarkable, and biological tests were within normal range. The patient underwent esophagogastroduodenoscopy and colonoscopy which showed a nodular mucosa of the stomach. Biopsies of the duodenum and colon were unremarkable. However, biopsies of the gastric fundus revealed a mild chronic gastritis characterized by lymphocytic and plasma cell infiltration of deep mucosa, without lymphoid follicle formation or active inflammation. No microorganisms were identified on routine hematoxylin and eosin or Giemsa-stained sections. Subepithelial collagen in the gastric biopsies was thickened and showed entrapped capillaries. Subepithelial collagen was highlighted by Masson's trichrome staining and was negative for amyloid by Congo Red. In the areas containing thickened collagen, there were no intraepithelial lymphocytes. The final pathological diagnosis was collagenous gastritis. Collagenous gastritis is an extremely rare disease, but it is important to recognize its characteristic endoscopic and pathologic findings to make a correct diagnosis. Specific therapy for this rare entity has not yet been established. [J Interdiscipl Histopathol 2015; 3(2.000: 68-70

  20. Duodenal Obstruction as First Presentation of Metastatic Breast Cancer

    Directory of Open Access Journals (Sweden)

    Sami Khairy

    2015-01-01

    Full Text Available The metastatic breast cancer to the duodenum is rare in spite of common breast cancer. In this paper, we are reporting a rare case of 50-year-old lady who presented with intestinal obstruction as result of metastatic breast cancer which completely responds to chemotherapy. The tumor presents again as brain metastasis after stop of Herceptin due to cardiac toxicity.

  1. Cancer Clusters

    Science.gov (United States)

    ... Kidney (Renal Cell) Cancer Leukemia Liver Cancer Lung Cancer Lymphoma Pancreatic Cancer Prostate Cancer Skin Cancer Thyroid Cancer Uterine Cancer ... Myths and Misconceptions Diet Hormones Immunosuppression Infectious Agents Obesity Radiation Sunlight Tobacco Genetics NCI Cancer Genetics Services ...

  2. Bilateral synchronous male breast cancer

    National Research Council Canada - National Science Library

    Nwashilli, Nnamdi J; Ugiagbe, Ezekiel E

    2015-01-01

    .... The importance of this case report is to create more awareness that breast cancer can occur in males just as in females, though the incidence is rare in males. Early presentation and compliance with treatment modality provide a better outcome.

  3. F-18 Fluorodeoxy Glucose Positron Emission Tomography/Computed Tomography Findings in a Rare Case of Penile Leiomyosarcoma

    Directory of Open Access Journals (Sweden)

    Kuruva Manohar

    2011-01-01

    Full Text Available Penile cancer is a rare entity accounting for only 0.4% all male malignancies. Penile leiomyosarcomas are even rarer with only around 35 cases reported in literature. We report a rare case of penile leiomyosarcoma illustrating F-18 Fluorodeoxy glucose (FDG positron emission tomography/computed tomography (PET/CT features and histopathology correlation.

  4. Naegleria meningitis : a rare survival.

    Directory of Open Access Journals (Sweden)

    Jain R

    2002-10-01

    Full Text Available Acute amebic meningoencephalitis caused by free-living amebae naegleria fowleri is extremely rare and uniformly fatal with only seven survivals reported till date. An interesting case of naegleria meningitis diagnosed by wet mount cytology of cerebrospinal fluid (CSF and treated with amphoterecin B, rifampicin and ornidazole with complete recovery is presented. In cases of suspected pyogenic meningitis, if CSF staining, antigen detection or culture is negative for bacteria, a wet mount cytology of CSF for naegleria is suggested. Early treatment with amphoterecin B and rifampicin may improve survival.

  5. Retroperitoneal Schwannoma: A Rare Case

    Directory of Open Access Journals (Sweden)

    Murat Kalaycı

    2011-01-01

    Case Presentation. A 38-year-old woman was admitted to the emergency service with the complaints of progressive abdominal pain and nausea for the last 24 hours. Abdominal examination was compatible with acute abdomen. Acute appendicitis was diagnosed by CT. During CT evaluation, a round shaped soft-tissue mass at the retroperitoneal area inferior to the right kidney was detected, The mass was resected and histology revealed schwannoma. Conclusion. Rare tumoral lesions with benign course such as schwannoma can be detected incidentally.

  6. 2006 Rare Earth Export Quota

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    @@ According to correlative stipulations in "Goods Import εt Export Administrating Statute of P.R.C", 2006export quota for important industrial products was issued by the Ministry of Commerce of P.R.C. on December 30th of 2005. Export quota of rare earth products is 45,000 tons. It is said the quota will be distributed in two batches. The first batch of quota will reach 70-80% of the total with 21,700 - 24,800tons for domestic companies and 10,500 - 12,000 tons for foreign invested companies. Quota will be distributed to relevant enterprises directly in recent days.

  7. Maxillary Osteomyelitis: A Rare Entity

    Directory of Open Access Journals (Sweden)

    Ayaaz Habib

    2016-01-01

    Full Text Available Osteomyelitis of the maxilla is now a rare event with the advent of antibiotics. The two predominant causes are odontogenic infections and sinusitis. Immunocompromised states such as diabetes, HIV, and malnutrition increase the risk of osteomyelitis. It is important to recognize this early as it is a difficult entity to treat with potentially serious consequences. We report an unusual case of right sided maxillary osteomyelitis in a lady with poorly controlled diabetes in rural Lincolnshire. Biopsy of the right maxillary bone showed features of acute osteomyelitis. This responded well to a prolonged course of oral antibiotics.

  8. Catalogue of Korean manuscripts and rare books

    DEFF Research Database (Denmark)

    Lerbæk Pedersen, Bent

    2014-01-01

    Catalogue of Korean manuscripts and rare books in The Royal Library, Copenhagen and the National Museum of Denmark......Catalogue of Korean manuscripts and rare books in The Royal Library, Copenhagen and the National Museum of Denmark...

  9. Anal malignant proliferative trichilemmoma: report of a rare case with review of literature

    OpenAIRE

    Cui, Ang; Mei, Zubing; Cui, Long

    2015-01-01

    Trichilemmoma is a rare type of benign cutaneous neoplasm, which derives from outer sheath of hair follicle. It barely develops malignant progression and has rarely been reported in anal cancer. In this article, we report a case of a 73-year-old woman who presented to the outer-patient department with complaints of a ruptured and longstanding anal phyma. All the appearances were atypical. Blood routine examination showed that neutrophilic granulocyte percentage was elevated and suggest it was...

  10. Rare case of Hirayama's disease

    Directory of Open Access Journals (Sweden)

    Rohan Bharat Gala

    2015-06-01

    Full Text Available Hirayama's disease is a rare benign neurological disorder also known as monomelic amyotrophy, Sobue disease, Juvenile Muscular Atrophy of Distal Upper Extremity (JMADUE. It mainly affects young males in their second or third decades and is most commonly seen in Asian countries like Japan, Malaysia and India. In majority of the cases the cause of the disease is unknown. An 18 year male came with weakness in his right hand and forearm since 1 year. Examination revealed weakness and wasting of muscles of forearm and hand without lower limb involvement and normal deep tendon reflexes. MRI showed focal short segment hyperintense signal in the ventral and right lateral aspect of the cervical cord at C5-C6 level with the involved segment measuring 4x3mm in size. Based on clinical and radiological features a diagnosis of focal amyotrophy was made. Patient is given a cervical collar to prevent flexion at the neck and physiotherapy in the form of hand and forearm exercises were started. Regular follow up of the patient once every 2 months is being done. Hirayama's disease is a rare, benign, self-limiting neurological disorder. Early diagnosis and management by preventing cervical flexion with the help of a cervical collar has shown to halt the progression of the disease. [Int J Res Med Sci 2015; 3(3.000: 767-770

  11. Rare gastrointestinal lymphomas: the endoscopicinvestigation

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    Gastrointestinal lymphomas represent up to 10% ofgastrointestinal malignancies and about one third of non-Hodgkin lymphomas. The most prominent histologies aremucosa-associated lymphoid tissue lymphoma and diffuselarge B-cell lymphoma. However, the gastrointestinaltract can be the site of rarer lymphoma subtypes as aprimary or secondary localization. Due to their rarity andthe multifaceted histology, an endoscopic classificationhas not been validated yet. This review aims to analyzethe endoscopic presentation of rare gastrointestinallymphomas from disease diagnosis to follow-up,according to the involved site and lymphoma subtype.Existing, new and emerging endoscopic technologieshave been examined. In particular, we investigated thediagnostic, prognostic and follow-up endoscopic featuresof T-cell and natural killer lymphomas, lymphomatouspolyposis and mantle cell lymphoma, follicular lymphoma,plasma cell related disease, gastrointestinal lymphomasin immunodeficiency and Hodgkin's lymphoma ofthe gastrointestinal tract. Contrarily to more frequentgastrointestinal lymphomas, data about rare lymphomasare mostly extracted from case series and casereports. Due to the data paucity, a synergism betweengastroenterologists and hematologists is required in order to better manage the disease. Indeed, clinicaland prognostic features are different from nodal andextranodal or the bone marrow (in case of plasma celldisease) counterpart. Therefore, the approach shouldbe based on the knowledge of the peculiar behavior andnatural history of disease.

  12. Teeth in Rare Locations with Rare Complications: An Overview.

    Science.gov (United States)

    Dhingra, Shruti; Gulati, Achal

    2015-12-01

    Ectopic presence of teeth within the dentate region is common in clinical practice. However, the presence of teeth in non-dentate areas such as the nasal cavity or the maxillary sinus is rare. These may remain asymptomatic for years, may be misdiagnosed as foreign bodies, or may present with some serious complications involving the nose and paranasal sinuses. Complications such as nasal obstruction, epistaxis, headaches, rhinolith formation, epiphora, sinusitis and oro-antral fistula have been well described in literature, however, very few cases of antro-cutaneous fistulas have been reported. We discuss three cases of ectopic eruptions of teeth, all occurring in children. The clinical and radiographic findings of the cases, possible etiology, complication, diagnosis and treatment are discussed.

  13. Rare Earths; The Fraternal Fifteen (Rev.)

    Energy Technology Data Exchange (ETDEWEB)

    Gschneidner, Jr., Karl A. [Iowa State University; Ames Laboratory

    1966-01-01

    Rare earths are a set of 15 elements: lanthanum, cerium, praseodymium, neodymium, promethium, samarium, europium, gadolinium, terbium, dysprosium, holmium, erbium, thulium, ytterbium and lutetium. They are not rare and not earths; they are metals and quite abundant. They are studied to develop commercial products which are beneficial to mankind, and because some rare earths are important to fission products.

  14. Gall bladder carcinoma presenting with spinal metastasis: A rare phenomenon

    Directory of Open Access Journals (Sweden)

    Mohit K Joshi

    2013-01-01

    Full Text Available Skeletal metastasis as a primary presentation of gall bladder carcinoma is rare. A 50-year-old lady presented with neck pain and weakness in her right upper limb of 3 months duration. Clinical and imaging work-up suggested locally advanced gall bladder carcinoma with metastasis to cervical vertebra and sternum. Only one case till date has been reported where the patient presented with neurological symptoms due to pathological fracture secondary to metastasis from an occult gall bladder carcinoma. Although rare, an occult gall bladder cancer may present with neurological symptoms due to pathological fracture of spine secondary to metastasis. We present a brief review of literature of patients who presented with skeletal metastases in clinically silent gall bladder malignancy. Palliative care issues in advanced gall bladder carcinoma have also been discussed.

  15. Oral verrucous carcinoma and ameloblastoma: a rare coincidence.

    Science.gov (United States)

    Dalirsani, Zohreh; Falaki, Farnaz; Mohtasham, Nooshin; Vazifeh Mostaan, Leila

    2015-03-01

    Oral verrucous carcinoma (OVC) is a rare malignancy of the oral cavity that was first described by Ackerman. This tumor is a well-differentiated low-grade, slow growing cancer that is locally invasive without metastasis. Ameloblastoma is one of the most common odontogenic tumors, which originates from the odontogenic epithelium. Verrucous carcinoma along with central ambloblastoma is a rare phenomenon. A case of verrucous carcinoma along with central ambloblastoma in a 49-year-old man, which was referred with a painless exophytic lesion with a verrucous and granular surface, is reported. Panoramic radiography revealed a well-defined radiolucency with sclerotic borders. To the best available knowledge, this phenomenon has not yet been reported. Verrucous carcinoma could occur in the wall of odontogenic cysts and tumors and should be considered during the differential diagnosis of a radiolucency, which is observed in the jaws with rapid growth or which presents some changes from its previous appearance.

  16. A Rare Case of Gastric Carcinoma with Oral Metastasis

    Directory of Open Access Journals (Sweden)

    Manjunath KV

    2013-11-01

    Full Text Available Oral region is an uncommon site for metastatic tumour cell colonization and usually evidence of wide spread disease, It accounts for only 1% of all oral malignant neoplasm’s. They mainly involve the bony structures (particularly the mandible, whereas primary metastases to soft tissues are extraordinarily rare (only 0.1% of oral malignancies. The breast is the most common primary site for tumors that metastasize to the jawbones, whereas the lung is the most common source for cancers that metastasize to the oral soft tissues. We are reporting an extremely rare case of carcinoma stomach with oral soft tissue metastatic lesion in the upper alveolar ridge extending to involving the upper labial mucosa extending upto the premolars on right side on the gingio- buccal sulcus.

  17. Non-functional parathyroid gland carcinoma, a rare malignant tumor of the head and neck.

    Science.gov (United States)

    Kotromanović, Zeljko; Birtić, Darija; Vceva, Andrijana; Medić, Darija; Zubcić, Zeljko; Mihalj, Hrvoje; Kotromanović, Zdenka; Erić, Suzana; Dmitrović, Branko; Stefanić, Mario

    2012-11-01

    Carcinoma of the parathyroid gland is a very rare tumor of the head and neck. The largest number of carcinomas are discovered by chance. (intraoperatively, during surgery removal of the parathyroid gland are adenomas). Around 1% of the primary parathyreoidism is caused by the cancer of parathyroid glands. Only 10% of these rare tumors make up dysfunctional cancer of parathyroid glands. There have been 24 cases reported of this disease in the literature. The focus of our study is to present a case of this disease and to review the published literature to date.

  18. Research on Rare Earth Encapsulated Luminescent Material

    Institute of Scientific and Technical Information of China (English)

    Yu Zhiwei; Liu Chengdong; Qi Xiaopeng

    2004-01-01

    A new method of preparation of irradiative material by using rare earth as luminophor and inorganic powder as base nucleus was presented.Rare earth was used to make colloid, which was mixed with base nucleus solution,where deposition/attachment reaction took place and rare earth was adhered onto the surface of base nucleus, hence yielding a new rare earth encapsulated irradiative material.Fluorescent spectrum analysis shows that this material possesses two emission peaks, one within 400 ~ 500 nm and the other within 580 ~ 700 nm, reflecting the luminous characteristics of original rare earth material.

  19. Rare Decays of the $\\eta^{'}$

    CERN Document Server

    Briere, R A; Ford, W T; Gritsan, A; Krieg, H; Roy, J D; Smith, J G; Alexander, J P; Baker, R; Bebek, C; Berger, B E; Berkelman, K; Blanc, F; Boisvert, V; Cassel, David G; Dickson, M; Von Dombrowski, S; Drell, P S; Ecklund, K M; Ehrlich, R; Foland, A D; Gaidarev, P B; Galik, R S; Gibbons, L K; Gittelman, B; Gray, S W; Hartill, D L; Heltsley, B K; Hopman, P I; Jones, C D; Kreinick, D L; Lee, T; Liu, Y; Meyer, T O; Mistry, N B; Ng, C R; Nordberg, E; Patterson, J R; Peterson, D; Riley, D; Thayer, J G; Thies, P G; Valant-Spaight, B L; Warburton, A; Avery, P; Lohner, M; Prescott, C; Rubiera, A I; Yelton, J; Zheng, J; Brandenburg, G; Ershov, A; Gao, Y S; Kim, D Y J; Wilson, R; Browder, T E; Li, Y; Rodríguez, J L; Yamamoto, H; Bergfeld, T; Eisenstein, B I; Ernst, J; Gladding, G E; Gollin, G D; Hans, R M; Johnson, E; Karliner, I; Marsh, M A; Palmer, M; Plager, C; Sedlack, C; Selen, M; Thaler, J J; Williams, J; Edwards, K W; Janicek, R; Patel, P M; Sadoff, A J; Ammar, R; Baringer, P; Bean, A; Besson, D; Coppage, D; Davis, R; Kotov, S A; Kravchenko, I V; Kwak, N; Zhao, X; Anderson, S; Frolov, V V; Kubota, Y; Lee, S J; Mahapatra, R; O'Neill, J J; Poling, R A; Riehle, T; Smith, A; Ahmed, S; Alam, M S; Athar, S B; Jian, L; Ling, L; Mahmood, A H; Saleem, M; Timm, S; Wappler, F; Anastassov, A; Duboscq, J E; Gan, K K; Gwon, C; Hart, T; Honscheid, K; Kagan, H; Kass, R; Lorenc, J; Schwarthoff, H; Spencer, M B; Von Törne, E; Zoeller, M M; Richichi, S J; Severini, H; Skubic, P L; Undrus, A E; Bishai, M; Chen, S; Fast, J; Hinson, J W; Lee, J; Menon, N; Miller, D H; Shibata, E I; Shipsey, I P J; Kwon, Y; Lyon, A L; Thorndike, E H; Jessop, C P; Lingel, K; Marsiske, H; Perl, Martin Lewis; Savinov, V; Ugolini, D W; Zhou, X; Coan, T E; Fadeev, V; Korolkov, I Ya; Maravin, Y; Narsky, I; Stroynowski, R; Ye, J; Wlodek, T; Artuso, M; Ayad, R; Dambasuren, E; Kopp, S E; Majumder, G; Moneti, G C; Mountain, R; Schuh, S; Skwarnicki, T; Stone, S; Titov, A; Viehhauser, G; Wang, J C; Wolf, A; Wu, J; Csorna, S E; McLean, K W; Marka, S; Xu, Z; Godang, R; Kinoshita, K; Lai, I C; Pomianowski, P A; Schrenk, S; Bonvicini, G; Cinabro, D; Greene, R; Perera, L P; Zhou, G J; Chan, S; Eigen, G; Lipeles, E; Schmidtler, M; Shapiro, A; Sun, W M; Urheim, J; Weinstein, A J; Würthwein, F; Jaffe, D E; Masek, G E; Paar, H P; Potter, E M; Prell, S; Sharma, V; Asner, D M; Eppich, A; Gronberg, J B; Hill, T S; Lange, D J; Morrison, R J; Nelson, T K; Richman, J D; Roberts, D

    2000-01-01

    We have searched for the rare decays of the eta prime meson to e+ e- eta, e+ e- pizero, e+ e- gamma, and e mu in hadronic events at the CLEO II detector. The search is conducted on 4.80 fb^-1 of e+ e- collisions at the Cornell Electron Storage Ring. We find no signal in any of these modes, and set 90% confidence level upper limits on their branching fractions of 2.4 X 10^-3, 1.4 X 10^-3, 0.9 X 10^-3, and 4.7 X 10^-4, respectively. We also investigate the Dalitz plot of the common decay of the eta prime to pi+ pi- eta. We fit the matrix element with the Particle Data Group parameterization and find Re(alpha) = -0.021 +- 0.025, where alpha is a linear function of the kinetic energy of the eta.

  20. A rare epididymal mass: Leiomyoma

    Directory of Open Access Journals (Sweden)

    Tufan Cicek

    2014-04-01

    Full Text Available Leiomyoma is a benign smooth muscle tumor. It rarely rises from epididymal structures and usually is encountred in adults. The patient, who had undergone total epididymectomy for right scrotal mass at another center, was diagnosed with Epididymal Leiomyoma. He was admitted to our clinic for further evaluation and follow up. The previous eididymectomy specimens obtained and refered to our pathology department for confirmation of diagnosis. Microscopy revealed a benign neoplastic lesion, consisting of spindle cells. Which form interlacing bundels.Mitotic figures and tumor necrosis was not. Observed. The previous diagnosis is confirmed as the tumor showed immunohistochemical smooth muscule actin and Desmin posivity Whereas S-100 was not expressed with in the tumoral cells. This case report also overviews epididymal leiomyoma with recent literature findings. [Cukurova Med J 2014; 39(2.000: 399-402

  1. Liposarcome dorsal: aspect clinique rare

    Science.gov (United States)

    Agbessi, Odry; Arrob, Adil; Fiqhi, Kamal; Khalfi, Lahcen; Nassih, Mohammed; El Khatib, Karim

    2015-01-01

    Décrit la première fois par Virchow en 1860, le liposarcome est une tumeur mésenchymateuse rare. Cette rareté est relative car les liposarcomes représentent quand même 14 à 18% de l'ensemble des tumeurs malignes des parties molles et ils constituent le plus fréquent des sarcomes des parties molles. Pour la majorité des auteurs, il ne se développerait jamais sur un lipome ou une lipomatose préexistant. Nous rapportons un cas de volumineux liposarcome de la face dorsale du tronc. L'histoire de la maladie, l'aspect clinique inhabituel « de tumeur dans tumeur », l'aspect de la pièce opératoire nous fait évoquer la possibilité de la transformation maligne d'un lipome bénin préexistant. PMID:26113914

  2. Rare complications of cesarean scar

    Directory of Open Access Journals (Sweden)

    Divyesh Mahajan

    2013-01-01

    Full Text Available Cesarean scar pregnancy (CSP and cesarean scar dehiscence (CSD are the most dreaded complications of cesarean scar (CS. As the incidence of CS is increasing worldwide, so is the incidence of CSP, especially in cases with assisted reproduction techniques. It is of utmost importance to diagnose CSP in the early first trimester, as it can lead to myometrial rupture with fatal outcome. On the other hand, CSD may be encountered during pregnancy or in the postpartum period. CSD in the postpartum period is very rare and can cause secondary postpartum hemorrhage (PPH leading to increased maternal morbidity or even death if not diagnosed and managed promptly. Both complications can be diagnosed on ultrasonography (USG and confirmed on magnetic resonance imaging (MRI. These two conditions carry high morbidity and mortality. In this article, we highlight the role of imaging in the early diagnosis and management of these conditions.

  3. Splenic abscess: a rare presentation

    Directory of Open Access Journals (Sweden)

    Mohit Bhatia

    2015-01-01

    Full Text Available Splenic abscess is a rare clinical entity with an incidence of 0.2-0.7% in autopsy-based studies. When untreated, splenic abscess is associated with nearly 100% mortality; in treated patients, the mortality rate is 16.6% during the first 90 days. It mostly occurs in patients with neoplasia, immunodeficiency, trauma, diabetes or splenic infarct. The incidence of splenic abscess is thought to be growing because of the increase in the number of immunocompromised patients who are particularly at risk for this disease and also because of the widespread use of diagnostic modalities. However, the optimal treatment for this remains unclear. We present a case of a 42-year-old man diagnosed with multiloculated splenic abscess and was subjected to splenectomy.

  4. Rare earth elements: end use and recyclability

    Science.gov (United States)

    Goonan, Thomas G.

    2011-01-01

    Rare earth elements are used in mature markets (such as catalysts, glassmaking, lighting, and metallurgy), which account for 59 percent of the total worldwide consumption of rare earth elements, and in newer, high-growth markets (such as battery alloys, ceramics, and permanent magnets), which account for 41 percent of the total worldwide consumption of rare earth elements. In mature market segments, lanthanum and cerium constitute about 80 percent of rare earth elements used, and in new market segments, dysprosium, neodymium, and praseodymium account for about 85 percent of rare earth elements used. Regardless of the end use, rare earth elements are not recycled in large quantities, but could be if recycling became mandated or very high prices of rare earth elements made recycling feasible.

  5. The Chinese Society of Rare Earth is Studying The Feasibility of Marketing Rare Earth Futures

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    Lin Donglu,secretary-general of the Chinese Society of Rare Earth recently said,the Chinese Society of Rare Earth undertook the research on subject of the National Social Science Fund Foundation on the reform of Chinese rare earth trading pricing mechanism on promoting RMB globalization,and is focusing on studying the feasibility of marketing rare earth futures variety.

  6. PTOSIS DUE TO CAVERNOUS SINUS SYNDROME AS A RARE PRESENTATION OF ADVANCED BREAST METASTASIS IN A PATIENT WITH DELAYED DIAGNOSIS

    Directory of Open Access Journals (Sweden)

    KW Khaw

    2012-08-01

    Full Text Available Complications of breast cancer metastasis may be the first manifestation of the disease. We report a rare case of left eyeptosis secondary to cavernous sinus syndrome in a 34-year-old lady due to refusal of proper medical treatment for metastaticbreast cancer. The delay in seeking medical treatment was attributed to her use of Traditional Chinese Medicine (TCM.

  7. BRAIN METASTASIS FROM HEPATOCELLULAR CARCINOMA: A RARE CASE

    Directory of Open Access Journals (Sweden)

    A. Kh. Bekyashev

    2012-01-01

    Full Text Available Hepatocellular carcinoma ranks 5th in prevalence and 3rd in cancer mortality worldwide. The prognosis of this disease is very poor: the 5-year survival rate was not more than 3–5%. Metastases generally occur in the lung, in the lymph nodes of the abdomen, chest, and neck, in the vertebrae, kidneys, and adrenals. The cases of brain metastasis from hepatocellular cancer are very rare. Overall, the prognosis is very poor for patients with brain metastases from hepatocellular carcinoma. Nevertheless, solitary brain metastases and good hepatic function are favorable survival criteria; thus, the treatment of this group of patients may lead to their better survival. The paper describes a clinical case of brain metastasis from hepatocellular carcinoma in a patient receiving the combination treatment involving neurosurgical treatment and targeted therapy. 

  8. Parathyroid Cancer Treatment (PDQ®)—Health Professional Version

    Science.gov (United States)

    Parathyroid cancer is very rare and is usually treated with surgery. Learn about the diagnosis, risk and genetic factors, staging, treatment, and management of parathyroid cancer in this expert-reviewed summary.

  9. Multidimensional fatigue and its correlates in hospitalised advanced cancer patients.

    NARCIS (Netherlands)

    Echteld, M.A.; Passchier, J.; Teunissen, S.; Claessen, S.; Wit, R. de; Rijt, C.C.D. van der

    2007-01-01

    Although fatigue is a multidimensional concept, multidimensional fatigue is rarely investigated in hospitalised cancer patients. We determined the levels and correlates of multidimensional fatigue in 100 advanced cancer patients admitted for symptom control. Fatigue dimensions were general fatigue (

  10. Management of Vaginal Cancer.

    Science.gov (United States)

    Shrivastava, S B L; Agrawal, Gaurav; Mittal, Megha; Mishra, Priyanshi

    2015-01-01

    Vaginal cancer is a rare gynecologic cancer with very little documentation. Literature search to have useful information for the management of vaginal cancer and share. We have searched the PUBMED database, Google search engine and other database. A total of 26 references were taken into account. Once spread from primary other cancers or vulva is ruled out, vaginal cancer is designated to be primary in origin. It was revealed that majority of vaginal cancers reported are squamous cell carcinomas. The most common risk factors implicated are Human Papiloma Virus, age. Most common presenting symptoms were abnormal vaginal bleeding,. Diagnosis requires pathological confirmation. Management depends on staging work-up. Vaginal cancer is staged by FIGO system of staging and TNM staging. There are many prognostic factors influencing the choice of treatment. Lymph node metastasis is one of the important prognostic factors, others to mention are histology, size, age. In a recent SEER analysis of over 2000 patients, the 5 year disease specific survival was 84% for stage 1, 75% for stage II and 57% for advanced tumors. Early carcinomas are generally treated with either surgery or radiation therapy. Advanced cancers are treated with radiation therapy with simultaneous administration of combined chemotherapy. Preventive strategies include safe sex and HPV vaccination. Primary vaginal cancer is a rare entity, if there is no history of cancer cervix or vulva in past or absence of cervical squamous cell carcinoma or vulvar carcinoma within 5 years is usually considered as primary vaginal cancer. Though early stage vaginal cancers have better outcome treated with surgery or radiotherapy or surgery followed by radiotherapy, radiotherapy alone is preferred mode of treatment in vaginal cancers.

  11. 结节性硬化症合并肾透明细胞癌的超声表现及文献复习%The sonographic manifestation of yuberous sclerosis complex with rare giant kidney cancer and review of the Literature

    Institute of Scientific and Technical Information of China (English)

    兰英; 刘燕娜; 曲国田; 陈晓慧

    2015-01-01

    Objective To explore the characteristics of ultrasonography of tuberous sclerosis complex with renal clear cell carcinoma.Methods The clinical and imaging data in the case of tuberous sclerosis complex with renal clear cell carcinoma were ret -rospectively analyzed and the relevant literature was reviewed .Results The patient received renal cancer radical nephrectomy .The pathological diagnosis was renal clear cell carcinoma .There was no tumor recurrence or distant metastasis within 6-month follow-up. Conclusion The tuberous sclerosis complex complicated with renal cell carcinoma is rarely reported .The mixed ultrasonic presence of cystic or solid echo with several calcification , and tumor periphery visible psuedocapsule encompassed with blood flow indicated the sign of renal cancer .The ultrasonic imaging may provide the early diagnostic rationale of the disease and early and kidney tumor resection .%目的:探讨结节性硬化症( tuberous sclerosis complex ,TSC)合并肾透明细胞癌的超声诊断特征。方法对1例TSC合并肾透明细胞癌患者的超声资料及临床表现进行回顾性分析并相关文献复习。结果该例患者行肾肿瘤及肾脏根治性切除术,病理诊断肾透明细胞癌。随访6月未发现肿瘤复发及转移。结论 TSC合并肾透明细胞癌临床罕见。 TSC合并肾脏巨大肿块并坏死者,超声表现为囊实性混合回声并多处钙化,瘤周可见假包膜的丰富血流环绕征象,应高度考虑肿瘤恶变可能。结合超声造影的快进慢退模式可以对该病做出诊断并及早行肿瘤及肾脏根治性切除。

  12. Rare and very rare adverse effects of clozapine

    Directory of Open Access Journals (Sweden)

    De Fazio P

    2015-08-01

    knowledge of the drug, clinical vigilance, and rapid intervention can drastically reduce the morbidity and mortality related to CLZ treatment. Keywords: clozapine, rare adverse effects, schizophrenia, atypical antipsychotic

  13. Carcinoma basalóide escamoso: uma forma rara e agressiva de câncer do esôfago e revisão da literatura Basaloid squamous carcinoma of the esophagus: a rare and aggressive form of esophageal cancer and literature review

    Directory of Open Access Journals (Sweden)

    Maria Aparecida Coelho de Arruda Henry

    2007-03-01

    a total of 134 esophagus cancer patients in the Hospital Universitário de Botucatu-Unesp, in São Paulo, from 1990 through 1999, only one patient (0,74%, presented the basaloid squamous carcinoma of the esophagus. This patient, a 41 year-old Caucasian male farmer, presented dysfagia, regurgitation and weight loss for the last three months, being a smoker and alcoholic for many years. Endoscopy and esophagram revealed a vegetative lesion in the distal region of the esophagus. Biopsy showed a high-grade intra-epithelial neoplasm associated with basaloid cells infiltrating the corian mucosa, characteristic of the squamous basaloid carcinoma. Immunohistochemical markers were positive for carcinoembrionary antigen and high molecular weight citokeratins. Computerized tomography revealed multiple metastasis in the lungs, liver and regional lymphatic nodules, all evidence of an advanced evolution of the disease. Treatment consisted of gastrostomy. The patient presented an accentuated fall pertaining it's general state and died with a state of melena four months after diagnosis. CONCLUSION: The basaloid squamous carcinoma is a rare and aggressive form of esophagus cancer and the prognosis depends in the state at which the lesion is and in the clinical conditions of the patient at the time of diagnosis.

  14. Pachyonychia congenita: A rare genodermatosis

    Directory of Open Access Journals (Sweden)

    Puneet Agarwal

    2013-01-01

    Full Text Available Pachyonychia congenita (PC is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis in palms and soles with maceration and malodour since childhood. She had a positive family history with father and grandfather affected but less severely. Microscopy and culture of nail clippings and scrapping were done to rule out fungal infection. On biopsy acanthotic epidermis, parakeratosis, orthokeratosis were seen. No evidence of any associated malignancy was found after thorough workup. She was diagnosed as PC Type 1. She was put on topical steroids and orally on acetretin 25 mg OD. Paring of the nails was done too reduce the thickness of nails & to provide symptomatic relief. She was on a regular treatment for 3-4 months and showed some improvement in the form of reduced palmoplantar hyperkeratosis and reduced oral punctate keratosis but was later lost on followup. She showed no adverse effect to therapy during this period. This case is being reported because of its rarity.

  15. Tale of two rare diseases

    Science.gov (United States)

    Shukla, Ravindra; Basu, Asish Kumar; Mandal, Biplab; Mukhopadhyay, Pradip; Maity, Animesh; Sinha, Anirban

    2013-01-01

    Idiopathic Hypogonadotropic hypogonadism (IHH) phenotype is variable &various genes have been decribed in association with IHH. We describe association of IHH with mosaic trisomy 13. A 20 year old male presented with lack of development of secondary sexual characters, normal height, micropenis, small testes, gynaecomastia, absence of axillary and pubic hairs, hyposmia, synkinesis, bilateral horizontal nystagmus and high arched palate. Investigations showed low gonadotropin, low total testosterone, LH after stimulation with 100 mcg tryptorelin sc was 11.42 mU/mL at 40 min. MRI of hypothalamo-pituitary region showed normal olfactory bulb and tract but shallow olfactory sulcus. Karyotype showed homologous Robertsonian translocation of chromosome 13. This case fits classical IHH except for LH rise on stimulation. Features of Patau syndrome which is associated with trisomy 13 are absent in our case. Mosaic trisomy 13, which can otherwise be rare incidental finding, has not been described in association with IHH. Causal association of novel mutation on chromosome 13 leading to aforementioned phenotype cannot be rule out. PMID:24251138

  16. Recycling of Rare Earth Elements

    Science.gov (United States)

    Lorenz, Tom; Bertau, Martin

    2017-01-01

    Any development of an effective process for rare earth (RE) recycling has become more and more challenging, especially in recent years. Since 2011, when commodity prices of REs had met their all-time maximum, prices have dropped rapidly by more than 90 %. An economic process able to offset these fluctuations has to take unconventional methods into account beside well-known strategies like acid/basic leaching or solvent extraction. The solid-state chlorination provides such an unconventional method for mobilizing RE elements from waste streams. Instead of hydrochloric acid this kind of chlorination decomposes NH4Cl thermally to release up to 400 °C hot HCl gas. After cooling the resulting solid metal chlorides may be easily dissolved in pH-adjusted water. Without producing strongly acidic wastes and with NH4Cl as cheap source for hydrogen chloride, solid-state chlorination provides various advantages in terms of costs and disposal. In the course of the SepSELSA project this method was examined, adjusted and optimized for RE recycling from fluorescent lamp scraps as well as Fe14Nd2B magnets. Thereby many surprising influences and trends required various analytic methods to examine the reasons and special mechanisms behind them.

  17. Rare types of diabetes mellitus.

    Science.gov (United States)

    Mihai, B; Mihai, Cătălina; Cijevschi-Prelipcean, Cristina; Lăcătuşu, Cristina

    2012-01-01

    Diabetes mellitus is a heterogenous disorder characterized by chronic hyperglycemia and induced by a large number of etiopathogenic conditions. Beside type 1 and type 2 diabetes, which account for almost 90% of all cases, practitioners may encounter patients with more infrequent forms of diabetes, as those induced by mutations of a single gene, atypical immune disorders or neonatal diabetes. Monogenic diabetes is represented by genetic disorders in the structure of the beta-cell (the MODY syndromes and the mutations of mitochondrial DNA) or in the insulin's action (type A insulin resistance syndrome, Rabson-Mendenhall syndrome, leprechaunism, lipodystrophies). The rare forms of immune diabetes are determined by antibodies against insulin or insulin receptor or appear as a component of the "stiff man syndrome". Neonatal diabetes is induced by mutations in genes that control beta-cell development and function and may have a transient or permanent nature. Knowledge of the uncommon forms of diabetes mellitus enables physicians to apply the optimal treatment, to estimate the evolution of the patient and to apply a complete family screening in order to diagnose all other blood relatives as soon as possible.

  18. Tale of two rare diseases

    Directory of Open Access Journals (Sweden)

    Ravindra Shukla

    2013-01-01

    Full Text Available Idiopathic Hypogonadotropic hypogonadism (IHH phenotype is variable & various genes have been decribed in association with IHH.We describe association of IHH with mosaic trisomy 13. A 20 year old male presented with lack of development of secondary sexual characters, normal height, micropenis, small testes, gynaecomastia, absence of axillary and pubic hairs, hyposmia,synkinesis, bilateral horizontal nystagmus and high arched palate. Investigations showed low gonadotropin,low total testosterone, LH after stimulation with 100 mcg tryptorelin sc was 11.42 mU/mL at 40 min. MRI of hypothalamo-pituitary region showed normal olfactory bulb and tract but shallow olfactory sulcus . Karyotype showed homologous Robertsonian translocation of chromosome 13. This case fits classical IHH except for LH rise on stimulation.Features of Patau syndrome which is associated with trisomy 13 are absent in our case. Mosaic trisomy 13, which can otherwise be rare incidental finding , has not been described in association with IHH.Causal association of novel mutation on chromosome 13 leading to aforementioned phenotype cannot be rule out.

  19. Understanding Cancer Prognosis

    Medline Plus

    Full Text Available ... Types Recurrent Cancer Common Cancer Types Bladder Cancer Breast Cancer Colorectal Cancer Kidney (Renal Cell) Cancer Leukemia Liver Cancer Lung Cancer Lymphoma Pancreatic Cancer Prostate Cancer Skin Cancer Thyroid Cancer Uterine Cancer All Cancer Types ...

  20. Expert services for rare anaemias across Europe

    Directory of Open Access Journals (Sweden)

    Beatrice Gulbis

    2013-03-01

    Full Text Available New challenges and priorities are given in the EU Health programme 2007-2013. The objectives of the programme are to improve citizens’ health security, to promote health to improve prosperity and solidarity, and to generate and disseminate health knowledge. If challenges and priorities have been defined globally for rare diseases by the European Commission, persons involved in rare anaemias have taken the opportunity to contribute to the empowerment of patients with rare anaemias. One of the ENERCA partners objectives was the mapping of existing centres that take care of patients with rare anaemias in Europe. Another goal was to obtain a directory of facilities available per centre for patients with rare anaemias. We thought that with those results it could realistically help to define a consensus regarding the criteria to be recognised as a centre of expertise for haemoglobinopathies and very rare anaemias.

  1. Blood Test Can Screen for Rare Sinus Cancer, Study Finds

    Science.gov (United States)

    ... published in the Aug. 10 issue of the New England Journal of Medicine . Dr. Richard Ambinder is a professor of oncology ... Hopkins School of Medicine, Baltimore; Aug. 10, 2017, New England Journal of Medicine HealthDay Copyright (c) 2017 HealthDay . All rights reserved. ...

  2. Rectal metastasis from Breast cancer: A rare entity

    Directory of Open Access Journals (Sweden)

    Cho Ee Ng

    2015-01-01

    Conclusion: There should be high clinical suspicion of bowel metastasis in patients presenting with positive faecal occult blood with or without bowel symptoms even if the incidence is less <1% of metastases, particularly in cases where the initial breast tumour was large, with positive axillary nodes.

  3. [Rare case giant cancerous tumor forgotten after kidney heterotopic transplantation].

    Science.gov (United States)

    Tyapochkin, Y A; Zubarev, V F; Golikov, A V; Afanasyeva, T V; S Klimkin, A

    2016-08-01

    The annual number of cases of kidney transplantation in the Russian Federation varies from 900 to 1000. The generally accepted method of operation is the heterotopic allotransplantation into one of the iliac region. Proper kidney recipient are psychologically "forgotten", often completely lost sight of postoperative monitoring, especially in the long term, but may remind of itself in extraordinary cases like ours.

  4. Cervical syphilitic lesions mimicking cervical cancer: a rare case report

    Directory of Open Access Journals (Sweden)

    Xiaoqing Zhu

    2015-02-01

    Full Text Available A woman presented to the hospital due to postcoital vaginal bleeding. The patient was initially diagnosed with cervical carcinoma by clinicians at a local hospital. However, a biopsy of the cervical lesions revealed chronic inflammation and erosion of the cervical mucosa, and the rapid plasma reagin ratio titer was 1:256. The patient was eventually diagnosed with syphilitic cervicitis and treated with minocycline 0.1 g twice a day. The patient was cured with this treatment.

  5. Why some plant species are rare.

    Science.gov (United States)

    Wieger Wamelink, G W; Wamelink, G W Weiger; Goedhart, Paul W; Frissel, Joep; Frissel, Josep Y

    2014-01-01

    Biodiversity, including plant species diversity, is threatened worldwide as a result of anthropogenic pressures such as an increase of pollutants and climate change. Rare species in particular are on the verge of becoming extinct. It is still unclear as to why some plant species are rare and others are not. Are they rare due to: intrinsic reasons, dispersal capacity, the effects of management or abiotic circumstances? Habitat preference of rare plant species may play an important role in determining why some species are rare. Based on an extensive data set of soil parameters we investigated if rarity is due to a narrow habitat preference for abiotic soil parameters. For 23 different abiotic soil parameters, of which the most influential were groundwater-table, soil-pH and nutrient-contents, we estimated species responses for common and rare species. Based on the responses per species we calculated the range of occurrence, the range between the 5 and 95 percentile of the response curve giving the habitat preference. Subsequently, we calculated the average response range for common and rare species. In addition, we designed a new graphic in order to provide a better means for presentation of the results. The habitat preferences of rare species for abiotic soil conditions are significantly narrower than for common species. Twenty of the twenty-three abiotic parameters showed on average significantly narrower habitat preferences for rare species than for common species; none of the abiotic parameters showed on average a narrower habitat preference for common species. The results have major implications for the conservation of rare plant species; accordingly management and nature development should be focussed on the maintenance and creation of a broad range of environmental conditions, so that the requirements of rare species are met. The conservation of (abiotic) gradients within ecosystems is particularly important for preserving rare species.

  6. Funing Rare Earths Industrial Co. Ltd

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    The company covers separation with whole lines of light, medium and heavy rare earths, with annual separation volume of rare earth oxides of 4,500 tons. It also produces rare earth oxides, fluorides and salts. Products with high-purity and super-high-purity are produced according to customer's request. Under the technological guidance of domestic experts and application of modern high-pressure

  7. Danish Gynecological Cancer Database

    DEFF Research Database (Denmark)

    Sørensen, Sarah Mejer; Bjørn, Signe Frahm; Jochumsen, Kirsten Marie;

    2016-01-01

    AIM OF DATABASE: The Danish Gynecological Cancer Database (DGCD) is a nationwide clinical cancer database and its aim is to monitor the treatment quality of Danish gynecological cancer patients, and to generate data for scientific purposes. DGCD also records detailed data on the diagnostic measures...... for gynecological cancer. STUDY POPULATION: DGCD was initiated January 1, 2005, and includes all patients treated at Danish hospitals for cancer of the ovaries, peritoneum, fallopian tubes, cervix, vulva, vagina, and uterus, including rare histological types. MAIN VARIABLES: DGCD data are organized within separate...... Danish personal identification number (CPR number). DESCRIPTIVE DATA: Data from DGCD and registers are available online in the Statistical Analysis Software portal. The DGCD forms cover almost all possible clinical variables used to describe gynecological cancer courses. The only limitation...

  8. [Rare diseases from a life insurance perspective].

    Science.gov (United States)

    Senn, A; Filzmaier, K

    2015-12-01

    A rare disease is defined as a disease that affects a maximum of 5 in 10,000 people. As of today there are roughly 7000 different rare diseases known. On account of this one can say that "rare diseases are rare, but people affected by them are common". For Germany this amounts to: 4 million people that are affected by a rare disease. Diagnosis, therapeutic options and prognosis have substantially improved for some of the rare diseases. Besides the general medical advances--especially in the area of genetics--this is also due to networking and sharing information by so-called Centres of Competence on a national and international scale. This results in a better medical care for the corresponding group of patients. Against this backdrop, the number of people applying for life assurance who are suffering from a complex or rare disease has risen steadily in the last years. Due to the scarce availability of data regarding long-term prognosis of many rare diseases, a biomathematical, medical and actuarial expertise on the part of the insurer is necessary in order to adequately assess the risk of mortality and morbidity. Furthermore there is quite a focus on the issue of rare diseases from not only politics but society as well. Therefore evidence based medical assessment by insurers is especially important in this group of applicants--thinking of legal compliance and reputational risk.

  9. Genetic and Rare Diseases Information Center (GARD)

    Data.gov (United States)

    Federal Laboratory Consortium — NCATS collaborates with the National Human Genome Research Institute (NHGRI) to support GARD, a center designed to provide comprehensive information about rare and...

  10. Rare Infections: Yersinia Enterocolitica and Yersinia Pseudotuberculosis

    Science.gov (United States)

    ... Listen Text Size Email Print Share Rare Infections: Yersinia Enterocolitica and Yersinia Pseudotuberculosis Page Content Article Body Yersinia enterocolitica and Yersinia pseudotuberculosis are bacterial infections that are ...

  11. Review on Rare Earth/Polymer Composite

    Institute of Scientific and Technical Information of China (English)

    刘力; 刘美琳; 等

    2002-01-01

    The epecial properties of rare earth/polymer composite were described.More emphasis was put on the radiation shielding and magnetic properties,In the application to X-ray shielding,rare earth/polymer composite can make up the feeble absorbing area.If the rare earth content is high enough,it can demonstrate strong ability for thermal neutron absorption,The composite has strong paramagnetism.The feasibility of preparing magnetic rare earth/polymer compostite was discussed,In addition,three preparation methods were introducde:simlle polymerization,mixing and reaction processing,The effect of the rare earth/polymer composties pre-sturcture and the coordinate number of rare eatrh ions on the light property was analyzed,Rare earth/polmer compostie may have the structure and property simlar to those of the ionomer,The feasibility of the in-situ preparation of the rare earth/polymer nano structure is indicated ,Besides,the relationship between struchture and properties of the rare earth/polymer composite was discussed,The problems associated with such composite materials were also presented.

  12. Review on Rare Earth/Polymer Composite

    Institute of Scientific and Technical Information of China (English)

    刘力; 张立群; 赵素合; 金日光; 刘美琳

    2002-01-01

    The special properties of rare earth/polymer composite were described. More emph asis was put on the radiation shielding and magnetic properties. In the applicat ion to X-ray shielding, rare earth/polymer composite can make up the feeble abs o rbing area. If the rare earth content is high enough, it can demonstrate strong ability for thermal neutron absorption; The composite has strong paramagnetism. The feasibility of preparing magnetic rare earth/polymer composite was discussed . In addition, three preparation methods were introduced: simple polymerization, mixing and reaction processing. The effect of the rare earth/polymer composites pre -sturcture and the coordinate number of rare earth ions on the light property w as a nalyzed. Rare earth/polymer composite may have the structure and property simlar to those of the ionomer. The feasibility of the in-situ preparation of the rare earth/polymer nano structure is indicated. Besides, the relationship betwe en structure and properties of the rare earth/polymer composite was discussed. T he problems associated with such composite materials were also presented.

  13. A rare case of minimal deviation adenocarcinoma of the uterine cervix in a renal transplant recipient.

    LENUS (Irish Health Repository)

    Fanning, D M

    2009-02-03

    INTRODUCTION: We report the first described case of minimal deviation adenocarcinoma of the uterine cervix in the setting of a female renal cadaveric transplant recipient. MATERIALS AND METHODS: A retrospective review of this clinical case was performed. CONCLUSION: This rare cancer represents only about 1% of all cervical adenocarcinoma.

  14. Isolation of rare tumor cells from blood cells with buoyant immuno-microbubbles.

    Directory of Open Access Journals (Sweden)

    Guixin Shi

    Full Text Available Circulating tumor cells (CTCs are exfoliated at various stages of cancer, and could provide invaluable information for the diagnosis and prognosis of cancers. There is an urgent need for the development of cost-efficient and scalable technologies for rare CTC enrichment from blood. Here we report a novel method for isolation of rare tumor cells from excess of blood cells using gas-filled buoyant immuno-microbubbles (MBs. MBs were prepared by emulsification of perfluorocarbon gas in phospholipids and decorated with anti-epithelial cell adhesion molecule (EpCAM antibody. EpCAM-targeted MBs efficiently (85% and rapidly (within 15 minutes bound to various epithelial tumor cells suspended in cell medium. EpCAM-targeted MBs efficiently (88% isolated frequent tumor cells that were spiked at 100,000 cells/ml into plasma-depleted blood. Anti-EpCAM MBs efficiently (>77% isolated rare mouse breast 4T1, human prostate PC-3 and pancreatic cancer BxPC-3 cells spiked into 1, 3 and 7 ml (respectively of plasma-depleted blood. Using EpCAM targeted MBs CTCs from metastatic cancer patients were isolated, suggesting that this technique could be developed into a valuable clinical tool for isolation, enumeration and analysis of rare cells.

  15. A rare case of minimal deviation adenocarcinoma of the uterine cervix in a renal transplant recipient.

    LENUS (Irish Health Repository)

    Fanning, D M

    2012-02-01

    INTRODUCTION: We report the first described case of minimal deviation adenocarcinoma of the uterine cervix in the setting of a female renal cadaveric transplant recipient. MATERIALS AND METHODS: A retrospective review of this clinical case was performed. CONCLUSION: This rare cancer represents only about 1% of all cervical adenocarcinoma.

  16. Rare Malignancies in Eastern India, Socio-Economic Impact.

    Science.gov (United States)

    Senapati, Surendranath; Samanta, Diptirani; Mishra, Saumyaranjan; Bose, Chaitali

    2016-06-28

    The etiology of cancer is multifactorial. Various factors, including physical carcinogens, chemicals and viral carcinogens affect patients with known predisposing factors who subsequently develop malignancies. Here is a retrospective study of 18 patients who developed rare malignancies in clinical situations like xeroderma pigmentosum, tuberous sclerosis, neurofibromatosis, hereditary multiple exostosis, second malignancies due to radiotherapy and chronic irritation. The predisposing factors like chronic infection in leprosy, filariasis, poverty and ignorance leading to the chronicity of the lesion, lack of available health care facilities and socio-cultural background, i.e. consanguinity marriage in some community are responsible for the development of these rare malignancies. They were treated at A.H Regional Cancer Centre, Cuttack, Odisha, which is located at Eastern part of India for various malignancies, between January 1989 and January 2008. Malignancies that developed in patients with the above predisposing factors are being reported here due to their rarity and to highlight the impact of socio cultural background in developing these malignancies. Patients with above clinical situations should be kept under close observation for early detection of malignancy so their chances of survival can be improved. In addition, those oncogenic stimuli that initiated or propagated the malignancies, due to socio-economic factors, should be addressed promptly to prevent their eventual development.

  17. Rare malignancies in Eastern India, socio-economic impact

    Directory of Open Access Journals (Sweden)

    Surendra Senapati

    2016-06-01

    Full Text Available The etiology of cancer is multifactorial. Various factors, including physical carcinogens, chemicals and viral carcinogens affect patients with known predisposing factors who subsequently develop malignancies. Here is a retrospective study of 18 patients who developed rare malignancies in clinical situations like xeroderma pigmentosum, tuberous sclerosis, neurofibromatosis, hereditary multiple exostosis, second malignancies due to radiotherapy and chronic irritation. The predisposing factors like chronic infection in leprosy, filariasis, poverty and ignorance leading to the chronicity of the lesion, lack of available health care facilities and socio-cultural background, i.e. consanguinity marriage in some community are responsible for the development of these rare malignancies. They were treated at A.H Regional Cancer Centre, Cuttack, Odisha, which is located at Eastern part of India for various malignancies, between January 1989 and January 2008. Malignancies that developed in patients with the above predisposing factors are being reported here due to their rarity and to highlight the impact of socio cultural background in developing these malignancies. Patients with above clinical situations should be kept under close observation for early detection of malignancy so their chances of survival can be improved. In addition, those oncogenic stimuli that initiated or propagated the malignancies, due to socio-economic factors, should be addressed promptly to prevent their eventual development.

  18. Juvenile granulosa cell tumour: a rare clinical entity

    Directory of Open Access Journals (Sweden)

    Kaliki Hymavathi Reddy

    2014-08-01

    Full Text Available Ovarian cancer is the third most common neoplasm of the female genital tract. Based on the cell type of origin, primary ovarian malignancies are classified into surface epithelium, germ cell, and sex cord tumors. Sex cord tumors account for 1% to 2% of ovarian malignancies. They may contain granulosa cells, theca cells, sertoli cells, or fibroblasts of gonadal stromal origin. Granulosa Cell Tumours (GCTs account for approximately 2-5% of all ovarian tumors and can be divided into adult (95% and juvenile (5% types based on histologic findings. GCTs secrete estrogen thus resulting in menstrual irregularities in the affected individual. More serious estrogen effects can occur in various end organs such as uterus resulting in endometrial hyperplasia, endometrial adenocarcinomas and increased risk of breast cancers. Androgen production is also reported but rare and produces virilization in the affected women. Juvenile Granulosa Cell Tumours (JGCTs are clinically and histopathologically distinct from the GCTs. They are rarely encountered but mostly in youngsters. Surgery is the primary modality of treatment with chemotherapy being reserved for advanced or recurrent disease states. We herewith report an interesting case of JGCT in a young teenage girl. [Int J Reprod Contracept Obstet Gynecol 2014; 3(4.000: 1150-1154

  19. A rare cause of osteonecrosis

    Directory of Open Access Journals (Sweden)

    Paolo Agostinis

    2012-01-01

    Full Text Available IntroductionHereditary hemochromatosis (HH is an autosomal recessive disorder caused by mutations in the HFE gene, which increase intestinal iron absorption. The prevalence of C282Y homozygosity, which causes the disorder, is 0.5% in Caucasian populations. The clinical manifestations are related to excess iron in the tissues, especially the liver, heart, pancreas, pituitary, and skin. They include fatigue, loss of libido or impotence in males, liver disease, skin pigmentation, diabetes mellitus, cardiac enlargement—with or without heart failure, and conduction defects. The classic triad of cirrhosis, diabetes mellitus, and skin pigmentation (“bronze diabetes” results from a combination of iron deposits and melanin. It occurs late in the disease, when the total body iron content is more than five times the normal value, about 20 grams. Left untreated, approximately half of all patients with HH eventually develop arthralgia or arthropathy. Chondrocalcinosis, chronic pseudo-osteoarthritis, and osteoporosis are the major rheumatic manifestations of HH. The cause of the arthropathy is still unknown. Iron deposits within joints may trigger a number of pathologic events, such as free radical generation and crystal deposition, which stimulate immune complex formation and inflammation.Materials and methodsWe describe the case of a 48-year-old male suffering from chronic bilateral ankle pain.ResultsThe work-up revealed osteonecrosis of ankle. The patient also presented high plasma ferritin levels and homozygosity for the C282Y mutation. Other than HH, which was confirmed by liver biopsy, the patient had no other risk factors for osteonecrosis.DiscussionHH represents a rare cause of osteonecrosis, and there are no prior reports of aseptic osteonecrosis of the ankle in a patient with this disease. The pathogenetic mechanism remains unknown.

  20. Familial colorectal cancer type X

    DEFF Research Database (Denmark)

    Dominguez-Valentin, Mev; Therkildsen, Christina; Da Silva, Sabrina

    2015-01-01

    Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic...... features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention....

  1. Brain Metastasis in Pancreatic Cancer

    OpenAIRE

    Marko Kornmann; Doris Henne-Bruns; Jan Scheele; Christian Rainer Wirtz; Thomas Kapapa; Johannes Lemke

    2013-01-01

    Pancreatic cancer is a fatal disease with a 5-year survival rate below 5%. Most patients are diagnosed at an advanced tumor stage and existence of distant metastases. However, involvement of the central nervous system is rare in pancreatic cancer. We retrospectively analyzed all cases of brain metastases in pancreatic cancer reported to date focusing on patient characteristics, clinical appearance, therapy and survival. Including our own, 12 cases of brain metastases originating from pancreat...

  2. Multidisciplinary Meeting on Male Breast Cancer : Summary and Research Recommendations

    NARCIS (Netherlands)

    Korde, Larissa A.; Zujewski, Jo Anne; Kamin, Leah; Giordano, Sharon; Domchek, Susan; Anderson, William F.; Bartlett, John M. S.; Gelmon, Karen; Nahleh, Zeina; Bergh, Jonas; Cutuli, Bruno; Pruneri, Giancarlo; McCaskill-Stevens, Worta; Gralow, Julie; Hortobagyi, Gabriel; Cardoso, Fatima

    2010-01-01

    Male breast cancer is a rare disease, accounting for less than 1% of all breast cancer diagnoses worldwide. Most data on male breast cancer comes from small single-institution studies, and because of the paucity of data, the optimal treatment for male breast cancer is not known. This article summari

  3. Primary chancre in the rectum: A report of rare case of syphilis

    Directory of Open Access Journals (Sweden)

    Zheng Shu

    2014-12-01

    Full Text Available Rectal syphilis is rare and it is easily diagnosed as rectal cancer. We report a case of a 32-year-old male patient complained of intermittent blood stool for 2 months. The patient was initially diagnosed suffering from rectal cancer based on clinical findings, Computed Tomography (CT and sigmoidoscopy examination, but rectal biopsy specimens and lymph node biopsy revealed no cancer cells. After knowing that he had a history of homosexuality, rectal syphilis was diagnosed because of positive syphilis-related indices. CT imaging of rectal syphilis was retrospectively evaluated and it may play a role in directing the adequate diagnosis with subsequent effective treatment of such patient population.

  4. Photoionization of rare gas clusters

    Science.gov (United States)

    Zhang, Huaizhen

    This thesis concentrates on the study of photoionization of van der Waals clusters with different cluster sizes. The goal of the experimental investigation is to understand the electronic structure of van der Waals clusters and the electronic dynamics. These studies are fundamental to understand the interaction between UV-X rays and clusters. The experiments were performed at the Advanced Light Source at Lawrence Berkeley National Laboratory. The experimental method employs angle-resolved time-of-flight photoelectron spectrometry, one of the most powerful methods for probing the electronic structure of atoms, molecules, clusters and solids. The van der Waals cluster photoionization studies are focused on probing the evolution of the photoelectron angular distribution parameter as a function of photon energy and cluster size. The angular distribution has been known to be a sensitive probe of the electronic structure in atoms and molecules. However, it has not been used in the case of van der Waals clusters. We carried out outer-valence levels, inner-valence levels and core-levels cluster photoionization experiments. Specifically, this work reports on the first quantitative measurements of the angular distribution parameters of rare gas clusters as a function of average cluster sizes. Our findings for xenon clusters is that the overall photon-energy-dependent behavior of the photoelectrons from the clusters is very similar to that of the corresponding free atoms. However, distinct differences in the angular distribution point at cluster-size-dependent effects were found. For krypton clusters, in the photon energy range where atomic photoelectrons have a high angular anisotropy, our measurements show considerably more isotropic angular distributions for the cluster photoelectrons, especially right above the 3d and 4p thresholds. For the valence electrons, a surprising difference between the two spin-orbit components was found. For argon clusters, we found that the

  5. Acne Rosacea With Rare Eye Changes

    OpenAIRE

    Mittal R R; Kaur Karamjit

    2000-01-01

    One 55 year old army officer had all 3 variants of acane rosacea occurring simultaneously for 9 years. Associated rare, serious complications as prominent rosacea keratitis, deterioration of vision, rhinophyma and lymphoedema were seen. We are reporting the present case as the above combination is rare.

  6. Lipoma in the Palate: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    A Winnifred Christy

    2010-01-01

    Lipoma occurring in the palate is rare with only six cases reported in the literature so far. This case of oral lipoma occurring in the hard plate is reported for its rarity and can be considered as a rare possibility in the differential diagnosis of various swellings of the palate.

  7. Queueing networks : Rare events and fast simulations

    NARCIS (Netherlands)

    Miretskiy, D.I.

    2009-01-01

    This monograph focuses on rare events. Even though they are extremely unlikely, they can still occur and then could have significant consequences. We mainly consider rare events in queueing networks. More precisely, we are interested in the probability of collecting some large number of jobs in the

  8. Rare earth elements and strategic mineral policy

    NARCIS (Netherlands)

    Kooroshy, J.; Korteweg, R.; Ridder, M. de

    2010-01-01

    Newspapers report almost daily on international tensions around ‘strategic’ or ‘critical’ minerals such as rare earth elements. The temporary freeze of rare earth exports from China to Japan in late 2010 in retaliation of the capture of a Chinese captain is but one example of the strategic use of no

  9. A rare case of petrous apex osteoma.

    Science.gov (United States)

    Cece, Hasan; Yildiz, Sema; Iynen, Ismail; Karakas, Omer; Karakas, Ekrem; Dogan, Ferit

    2012-06-01

    Osteomas are the most common tumours of the cranial vault and facial skeleton. Temporal bone osteoma is a rare entity. An osteoma arising from the petrous apex is extremely rare. We present a case of osteoma arising from the petrous apex followed by a discussion of the etiology, presentation, and radiologic findings.

  10. [RARE DISEASES DTC: DIAGNOSIS, TREATMENT AND CARE].

    Science.gov (United States)

    Mendlovic, Joseph; Barash, Hila; Yardeni, Hadar; Banet-Levi, Yonit; Yonath, Hagith; Raas-Rothschild, Annick

    2016-04-01

    Rare diseases are chronic, progressive genetic disorders, which affect around 6-8% of the general population, mainly children. Therefore, in Israel approximately 500,000 people are probably affected by a rare disease. In this article, we review some of the issues pertaining to rare diseases, such as the need for accurate diagnosis which is necessary not only for specific care and treatment but also for informed family planning. In addition, we review the impact of the activities of patients' organizations on the awareness of rare diseases and their involvement in the creation of the Orphan Drug Act, which was the leading point on the way to drug development worldwide. During the last few years networks for reaching leading specialists' opinions on the way to proper diagnosis were created. Thereafter, the next generation genetic technologies, such as exome sequencing, have been a revolution in terms of options and hope for patients with rare undiagnosed diseases. Patients with rare diseases and their families are a challenge to the health care system, not only in terms of diagnosis and therapy, but also in terms of special needs. In addition, deciphering molecular pathways of rare diseases might be the key for understanding molecular events involved in common disorders. We emphasize the duty to ensure appropriate capacity and equal access to follow-up and clinical management of patients with rare diseases in Israel.

  11. Acne Rosacea With Rare Eye Changes

    Directory of Open Access Journals (Sweden)

    Mittal R R

    2000-01-01

    Full Text Available One 55 year old army officer had all 3 variants of acane rosacea occurring simultaneously for 9 years. Associated rare, serious complications as prominent rosacea keratitis, deterioration of vision, rhinophyma and lymphoedema were seen. We are reporting the present case as the above combination is rare.

  12. Xanthogranulomatous cystitis: A rare clinical entity

    Directory of Open Access Journals (Sweden)

    Singh Santosh

    2010-01-01

    Full Text Available Xanthogranulomatous cystitis (XC is a rare benign disease of unknown etiology. A case of XC in a 30-year-old male is presented due to sparcity of such case report in medical literature. Patient evaluation included clinical, biochemical and radiological studies before treatment. Histological study revealed the rare diagnosis. Patient was asymptomatic at eight weeks follow-up after treatment.

  13. Global rare earth resources and scenarios of future rare earth industry

    Institute of Scientific and Technical Information of China (English)

    CHEN Zhanheng

    2011-01-01

    It is known to all that China is abundant in rare earth resources. But rare earth deposits are really not that rare in the earth crust. In the five continents, i.e. Asia, Europe, Australia, North and South America, and Africa, there are about thirty four countries found to have rare earth deposits; Brazil might surpass China and rank the first in rare earth deposits. At present, investment in rare earth production was surged,there have been about 200 projects, and the total production for 25 of them would be more than 170 thousand tons after 2015, a multi-supply system on rare earths is being established worldwide. Cautions on the investment of rare earth production are involved.

  14. Rare Earth Metals: Resourcefulness and Recovery

    Science.gov (United States)

    Wang, Shijie

    2013-10-01

    When we appreciate the digital revolution carried over from the twentieth century with mobile communication and the Internet, and when we enjoy our high-tech lifestyle filled with iDevices, hybrid cars, wind turbines, and solar cells in this new century, we should also appreciate that all of these advanced products depend on rare earth metals to function. Although there are only 136,000 tons of annual worldwide demand, (Cho, Rare Earth Metals, Will We Have Enough?)1 rare earth metals are becoming such hot commodities on international markets, due to not only to their increasing uses, including in most critical military hardware, but also to Chinese growth, which accounts for 95% of global rare earth metal production. Hence, the 2013 technical calendar topic, planned by the TMS/Hydrometallurgy and Electrometallurgy Committee, is particularly relevant, with four articles (including this commentary) contributed to the JOM October Issue discussing rare earth metals' resourcefulness and recovery.

  15. Disseminated Intracranial Ewing’s Sarcoma in an Adult:A Rare and Difficult Diagnosis

    Directory of Open Access Journals (Sweden)

    Emil Lou

    2012-06-01

    Full Text Available The Ewing sarcoma family of tumors comprises a rare class of cancers of mesenchymal origin. Cases of Ewing’s sarcoma in the central nervous system – specifically, intracranial Ewing’s – are extremely rare. Almost all reported cases have occurred in children. However, this rare presentation can also occur in the adult population. It is important to distinguish these tumors from primitive neuroectodermal tumors at the time of diagnosis. Testing for EWSR1(22q12 gene rearrangement using fluorescence in situ hybridization is a useful tool for making the distinction between these 2 similar but distinct entities. We present here the case of a middle-aged male patient with intracranial Ewing’s sarcoma, and discuss diagnostic challenges and potential new treatment approaches for this rare disease.

  16. Chinalco Rare Earth has Surpassed Ganzhou to Become the Biggest Giant in South China Rare Earth

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    As the pillar enterprise in Chinalco rare earth unit,Chinalco Guangxi Rare Earth Company firmly grasped the historical opportunity of the state government supporting six big groups including Chinalco to integrate and develop domestic rare earth enterprises,riding the east wind to stand out,recently,it made significant

  17. Endometrial cancer survival after breast cancer in relation to tamoxifen treatment : Pooled results from three countries

    NARCIS (Netherlands)

    Jones, Michael E.; van Leeuwen, Flora E.; Hoogendoorn, Wilhelmina E.; Mourits, Marian J. E.; Hollema, Harry; van Boven, Hester; Press, Michael F.; Bernstein, Leslie; Swerdlow, Anthony J.

    2012-01-01

    Introduction: Tamoxifen is an effective treatment for breast cancer but an undesirable side-effect is an increased risk of endometrial cancer, particularly rare tumor types associated with poor prognosis. We investigated whether tamoxifen therapy increases mortality among breast cancer patients subs

  18. Endometrial cancer survival after breast cancer in relation to tamoxifen treatment : Pooled results from three countries

    NARCIS (Netherlands)

    Jones, Michael E.; van Leeuwen, Flora E.; Hoogendoorn, Wilhelmina E.; Mourits, Marian J. E.; Hollema, Harry; van Boven, Hester; Press, Michael F.; Bernstein, Leslie; Swerdlow, Anthony J.

    2012-01-01

    Introduction: Tamoxifen is an effective treatment for breast cancer but an undesirable side-effect is an increased risk of endometrial cancer, particularly rare tumor types associated with poor prognosis. We investigated whether tamoxifen therapy increases mortality among breast cancer patients subs

  19. Cancer stem cell targeted therapy: progress amid controversies

    Science.gov (United States)

    Wang, Tao; Shigdar, Sarah; Gantier, Michael P.; Hou, Yingchun; Wang, Li; Li, Yong; Shamaileh, Hadi Al; Yin, Wang; Zhou, Shu-Feng; Zhao, Xinhan; Duan, Wei

    2015-01-01

    Although cancer stem cells have been well characterized in numerous malignancies, the fundamental characteristics of this group of cells, however, have been challenged by some recent observations: cancer stem cells may not necessary to be rare within tumors; cancer stem cells and non-cancer stem cells may undergo reversible phenotypic changes; and the cancer stem cells phenotype can vary substantially between patients. Here the current status and progresses of cancer stem cells theory is illustrated and via providing a panoramic view of cancer therapy, we addressed the recent controversies regarding the feasibility of cancer stem cells targeted anti-cancer therapy. PMID:26496035

  20. Staging for vaginal cancer.

    Science.gov (United States)

    Rajaram, Shalini; Maheshwari, Amita; Srivastava, Astha

    2015-08-01

    Vaginal cancer is a rare cancer comprising about 3% of all gynecologic cancers. Primary vaginal cancer should be carefully assigned as spread from cervix, vulva, and other metastatic tumors to vagina can occur. Although vaginal cancer traditionally occurs in older postmenopausal women, the incidence of high-risk human papillomavirus (HPV)-induced cancers is increasing in younger women. Squamous cell carcinoma is still the most common histopathologic type followed by adenocarcinoma. With decreasing use of diethylstilbestrol in pregnancy, non-diethylstilbestrol-associated cancers are described. The Federation Internationale de Gynecologie et d'Obstetrique (FIGO) staging of vaginal cancer (2009) follows the same rules as cervical cancer; it is clinically staged and allows the use of routine investigative modalities for staging. Although FIGO encourages the use of advanced imaging modalities, such as computed tomography, magnetic resonance imaging (MRI), and positron emission tomography (PET), to guide therapy, the imaging findings may not be used to change or reassign the stage. TNM staging is the pathologic staging system proposed by the American Joint Committee on Cancer, and information available from examination of the resected specimen, including pelvic and inguinal lymph nodes, may be used for staging. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. The Epidemiology of Male Breast Cancer.

    Science.gov (United States)

    Ferzoco, Raina M; Ruddy, Kathryn J

    2016-01-01

    Male breast cancer is a rare disease, accounting for only 1% of breast cancer diagnoses in the USA. The current literature suggests that genetic factors including BRCA2 mutations, family history, age, androgen/estrogen imbalance, and environmental exposures may predispose to male breast cancer. In this manuscript, we will review known and possible risk factors for male breast cancer, as well as describe the clinical patterns of the disease.

  2. Solar Energy Cell with Rare Earth Film

    Institute of Scientific and Technical Information of China (English)

    Li Baojun; Yang Tao; Zhou Yao; Zhou Meng; Fu Xiliang; Fu Li

    2004-01-01

    The characteristic of the solar energy cell with the rare earth film according to theory of molecular structure was introduced.When sunlight shines, the molecules of the rare earth film can absorb energy of the photon and jump to the excited state from the basic state, and play a role in storing solar energy.When sunlight do not shine, the electron of the excited state returns to the basic state, the rare earth film can automatically give out light and shine to surface of the solar cell, which can make solar cell continuously generate electric current.The rare earth film can absorb direct,scattering sunlight, and increase density of solar energy to reach surface of the solar cell, and play focusing function.The rare earth film can bear 350 ~ 500 ℃, which make the solar cell be able to utilize the focusing function system.Because after luminescence of the rare earth film, it can release again the absorbed solar energy through 1 ~ 8 h, and play a role in storing solar energy; The solar cell with the rare-earth film can generate electricity during night and cloudy days, and remarkably increase efficiency of the solar cell.

  3. [Global strategy for rare and intractable diseases].

    Science.gov (United States)

    Kawashima Kodama, Tomoko

    2013-01-01

    The progress has been made in research on rare and intractable diseases, for which new drug development has long been limited due to rarity, by establishing a global network in recent years. In Japan, the countermeasure of rare and intractable diseases has been implemented under national policy outline as an integrated strategy since 1972, including surveys and research, construction of medical facilities, reducing burden of medical expenses for patients, and enhancement of welfare and improving QOL of patients. Along with legislation or regulation of orphan drugs development, treatment and care for rare diseases have been emphasized in each national healthcare system globally. In the US, the Office of Rare Diseases was established under NIH in 1989 and European countries also started collaboration for rare disease projects with their own national plans in 1999. As a platform of rare diseases patients, healthcare professionals, researchers, pharmaceutical industry, and policy makers, Orphanet has a well-designed website which networks them. In Japan, there are urgent needs for global standard patient registration system and strengthening global collaboration for developing treatment and care for the patients of rare and intractable diseases, which needs more cooperative relations with patient organizations and pharmaceutical industry within country.

  4. Analyzing rare diseases terms in biomedical terminologies

    Directory of Open Access Journals (Sweden)

    Erika Pasceri

    2012-03-01

    Full Text Available Rare disease patients too often face common problems, including the lack of access to correct diagnosis, lack of quality information on the disease, lack of scientific knowledge of the disease, inequities and difficulties in access to treatment and care. These things could be changed by implementing a comprehensive approach to rare diseases, increasing international cooperation in scientific research, by gaining and sharing scientific knowledge about and by developing tools for extracting and sharing knowledge. A significant aspect to analyze is the organization of knowledge in the biomedical field for the proper management and recovery of health information. For these purposes, the sources needed have been acquired from the Office of Rare Diseases Research, the National Organization of Rare Disorders and Orphanet, organizations that provide information to patients and physicians and facilitate the exchange of information among different actors involved in this field. The present paper shows the representation of rare diseases terms in biomedical terminologies such as MeSH, ICD-10, SNOMED CT and OMIM, leveraging the fact that these terminologies are integrated in the UMLS. At the first level, it was analyzed the overlap among sources and at a second level, the presence of rare diseases terms in target sources included in UMLS, working at the term and concept level. We found that MeSH has the best representation of rare diseases terms.

  5. Penile Cancer Presenting With Acute Urinary Retantion: Case Report

    Directory of Open Access Journals (Sweden)

    Ercan KAZAN

    2015-06-01

    Full Text Available Penile cancer is a rare malignancy in our country. Phimosis, , poor hygiene and smoking are major risk factors for penile cancer. Penile cancer in men have a strong correlation with human papilloma virus (HPV infection. Penile cancer is rare in circumcised men, particularly if they are circumcised as newborns. Penile cancer is usually asymptomatic and physical examination is essential for diagnosis. We report a case of penile cancer whose first symptom was acute urinary retention (AUR and review of the literature. [J Contemp Med 2015; 5(2.000: 131-134

  6. Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls

    DEFF Research Database (Denmark)

    Fletcher, O.; Johnson, N.; Silva, Andreá Lema Da;

    2010-01-01

    of breast cancer, explaining an estimated 0.03% of the excess familial risk of breast cancer. Impact: Testing the combined effects of rare missense variants in known breast cancer genes in large collaborative studies should clarify their overall contribution to breast cancer susceptibility. Cancer Epidemiol...

  7. Ethical and social aspects on rare diseases

    Directory of Open Access Journals (Sweden)

    Krajnović Dušanka

    2012-01-01

    Full Text Available Rare diseases are a heterogenic group of disorders with a little in common except of their rarity affecting by less than 5 : 10.000 people. In the world is registered about 6000-8000 rare diseases with 6-8% suffering population only in the European Union. In spite of rarity, they represent an important medical and social problem due to their incidence. For many rare diseases have no treatment, but if it exists and if started on time as being available to patients, there is a good prognosis for them to be able for normal life. The problems of patients affected by rare diseases are related to the lack of diagnosis and timely undergoing as well as their treatment or prevention. Orphan drugs are products intended for treatment, diagnosis or prevention of rare diseases, but for their development and marketing the industry has not been interested in yet because of their marketing reasons. Patients suffering from a rare disease although belonging to the vulnerable group for their specific health needs, is becoming invisible in the health care system due to their additional needs un properly recognized. Ethical problems faced by patients, but also health care professionals are related to the allocation of medical diagnostics, unequal approach to health care, inappropriately specialized social services as well as therapy and rare orphan drugs unavailability. Ethical questions related to clinical trails on orphan drugs, population screening and epidemiology testing on rare diseases will also be discussed in this paper. [Projekat Ministarstva nauke Republike Srbije, br. 41004: Rare diseases: Molecular pathophysiology, the diagnostic and therapeutical modalities, social, ethical and legal aspects

  8. Pancreatic Cancer Screening.

    Science.gov (United States)

    Das, Koushik K; Early, Dayna

    2017-09-06

    This review describes the rationale for pancreatic cancer screening, outlines groups that are at elevated risk for pancreatic cancer, and summarizes the relative risk in each setting. We also review the methods available for performing pancreatic cancer screening and the recommended screening intervals. Several genetic mutations have been identified that increase the risk for pancreatic cancer. Most are rare, however, and at-risk individuals are most often those with a strong family history of pancreatic cancer (with multiple family members affected) but no identifiable genetic mutation. Known genetic syndromes that increase the risk for pancreatic cancer include hereditary pancreatitis, familial atypical mole and multiple melanoma, Peutz-Jeghers syndrome, Lynch syndrome, BRCA mutations, and Li-Fraumeni syndrome. Genetic testing should be performed in conjunction with genetic counseling, and testing of an affected family member is preferred if possible.The goal of pancreatic cancer screening is to identify pancreatic cancer at an early, curable stage or, ideally, to identify precancerous lesions that can be resected to prevent the development of cancer. Imaging can be performed with either endoscopic ultrasound (EUS) or magnetic resonance cholangiopancreatography (MRCP). These techniques are generally considered to be complementary, although an advantage of EUS is that cysts or solid lesions can be sampled at the time of the procedure. Published results of small cohorts of high-risk patients in pancreatic cancer screening programs have demonstrated a high prevalence of small cystic lesions identified on EUS or MRCP, which often represent side-branch intraductal papillary mucinous neoplasms (IPMN). Knowledge of conditions and syndromes that increase pancreatic cancer risk allows one to identify those patients that may benefit from pancreatic cancer screening. As we gather evidence from large, international, multicenter cohorts of patients at high-risk for pancreatic

  9. Ecology and exploration of the rare biosphere.

    Science.gov (United States)

    Lynch, Michael D J; Neufeld, Josh D

    2015-04-01

    The profound influence of microorganisms on human life and global biogeochemical cycles underlines the value of studying the biogeography of microorganisms, exploring microbial genomes and expanding our understanding of most microbial species on Earth: that is, those present at low relative abundance. The detection and subsequent analysis of low-abundance microbial populations—the 'rare biosphere'—have demonstrated the persistence, population dynamics, dispersion and predation of these microbial species. We discuss the ecology of rare microbial populations, and highlight molecular and computational methods for targeting taxonomic 'blind spots' within the rare biosphere of complex microbial communities.

  10. Rare kaon, muon, and pion decay

    Energy Technology Data Exchange (ETDEWEB)

    Littenberg, L.

    1998-12-01

    The author discusses the status of and prospects for the study of rare decays of kaons, muons, and pions. Studies of rare kaon decays are entering an interesting new phase wherein they can deliver important short-distance information. It should be possible to construct an alternative unitarity triangle to that determined in the B sector, and thus perform a critical check of the Standard Model by comparing the two. Rare muon decays are beginning to constrain supersymmetric models in a significant way, and future experiments should reach sensitivities which this kind of model must show effects, or become far less appealing.

  11. The Facility for Rare Isotope Beams

    Directory of Open Access Journals (Sweden)

    Wrede C.

    2015-01-01

    Full Text Available The Facility for Rare Isotope Beams (FRIB is a United States Department of Energy user facility currently under construction on the campus of Michigan State University. Based on a 400 kW, 200 MeV/u heavy-ion driver linac, FRIB will deliver high-quality fast, thermalized, and re-accelerated beams of rare isotopes with unprecedented intensities to a variety of experimental areas and equipment. New science opportunities at the frontiers of nuclear structure, nuclear astrophysics, fundamental symmetries, and societal applications will be enabled by this future world-leading rare-isotope beam facility.

  12. The Facility for Rare Isotope Beams

    Science.gov (United States)

    Wrede, C.

    2015-05-01

    The Facility for Rare Isotope Beams (FRIB) is a United States Department of Energy user facility currently under construction on the campus of Michigan State University. Based on a 400 kW, 200 MeV/u heavy-ion driver linac, FRIB will deliver high-quality fast, thermalized, and re-accelerated beams of rare isotopes with unprecedented intensities to a variety of experimental areas and equipment. New science opportunities at the frontiers of nuclear structure, nuclear astrophysics, fundamental symmetries, and societal applications will be enabled by this future world-leading rare-isotope beam facility.

  13. Adrenal Myelolipoma- A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Vijayalaxmi V. Suranagi

    2009-05-01

    Full Text Available Adrenal myelolipoma (AML is a rare benign tumour composed of mature adipose tissue and hematopoietic tissue. Very few cases have been reported. Most of these patients are asymptomatic. We present a rare case of Adrenal Myelolipoma where the patient presented with hypertension and a clinical suspicion of Pheochromocytoma, which turned out to be an Adrenal myelolipoma. Adrenal myelolipoma is a rare entity, not encountered frequently and can occur as an incidental finding. Awareness regarding this entity is very much essential to exclude surgical exploration or extensive surgery.

  14. Colon cancer

    Science.gov (United States)

    Colorectal cancer; Cancer - colon; Rectal cancer; Cancer - rectum; Adenocarcinoma - colon; Colon - adenocarcinoma ... In the United States, colorectal cancer is one of the leading causes of deaths due to cancer. Early diagnosis can often lead to a complete cure. Almost ...

  15. Rare primary retroperitoneal teratoma masquerading as adrenal ...

    African Journals Online (AJOL)

    J.M. Ratkal

    investigation was found to have a right adrenal mass were collected. ... in children, but their prevalence in adults is exceedingly rare. The adrenal gland is ... tumors, the abdominal CT and chest X-ray images taken prior to surgery were.

  16. Rare earth elements in nuclear medicine

    OpenAIRE

    Kodina G.E.; Kulakov V.N.; Sheino I.N.

    2014-01-01

    The review focuses on the key applications of stable and radioactive isotopes of rare earth elements in the technology of nuclear medicine, radionuclide diagnostics and therapy, as well as magnetic resonance imaging and binary radiotherapy technologies.

  17. Rare earth elements in nuclear medicine

    Directory of Open Access Journals (Sweden)

    Kodina G.E.

    2014-12-01

    Full Text Available The review focuses on the key applications of stable and radioactive isotopes of rare earth elements in the technology of nuclear medicine, radionuclide diagnostics and therapy, as well as magnetic resonance imaging and binary radiotherapy technologies.

  18. Rare earth element mines, deposits, and occurrences

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This dataset contains location, geologic and mineral economic data for world rare earth mines, deposits, and occurrences. The data in this compilation were derived...

  19. Determinants of performance in rare strategic events

    DEFF Research Database (Denmark)

    Andersen, Kristina Vaarst; Beukel, Karin

    The paper develops and tests a theoretical framework explaining how emotions and learning affect outcomes of rare strategic events, namely Intellectual Property litigations. We investigate how organizations? negative emotions influence performance outcome in IP litigations negatively. Though...

  20. Determinants of performance in rare strategic events

    DEFF Research Database (Denmark)

    Andersen, Kristina Vaarst; Beukel, Karin

    The paper develops and tests a theoretical framework explaining how emotions and learning affect outcomes of rare strategic events, namely Intellectual Property litigations. We investigate how organizations’ negative emotions influence performance outcome in IP litigations negatively. Though...

  1. Bronchial carcinoid tumors: A rare malignant tumor

    African Journals Online (AJOL)

    2015-02-03

    Feb 3, 2015 ... Key words: Bronchial carcinoid tumor, diagnosis, outcome, treatment, West .... They can present with carcinoid syndrome, Cushing's ... 2012 reported BCT as a rare differential of pulmonary ... Management of carcinoid tumors.

  2. Functional rare males in diploid parthenogenetic Artemia.

    Science.gov (United States)

    Maccari, M; Gómez, A; Hontoria, F; Amat, F

    2013-09-01

    Functional males that are produced occasionally in some asexual taxa - called 'rare males' - raise considerable evolutionary interest, as they might be involved in the origin of new parthenogenetic lineages. Diploid parthenogenetic Artemia produce rare males, which may retain the ability to mate with females of related sexual lineages. Here, we (i) describe the frequency of male progeny in populations of diploid parthenogenetic Artemia, (ii) characterize rare males morphologically, (iii) assess their reproductive role, using cross-mating experiments with sexual females of related species from Central Asia and characterize the F1 hybrid offspring viability and (iv) confirm genetically both the identity and functionality of rare males using DNA barcoding and microsatellite loci. Our result suggests that these males may have an evolutionary role through genetic exchange with related sexual species and that diploid parthenogenetic Artemia is a good model system to investigate the evolutionary transitions between sexual species and parthenogenetic strains.

  3. Prelingual auditory verbal agnosia, A rare condition

    National Research Council Canada - National Science Library

    Violeta Necula; Cristina Mirela Stamate; Krishna Luchoo; Marcel Cosgarea

    2017-01-01

    Auditory agnosia, agnosia for speech is a rare condition, caused mostly by stroke, in adults, while in children it is often a sequel of herpes simplex encephalitis or is associated with epilepsy, in Landau–Kleffner syndrome...

  4. Rare Earth: Production, Trade and Demand

    Institute of Scientific and Technical Information of China (English)

    HONG Feng

    2007-01-01

    @@ Editor's note: The paper was quoted from the papers collection of the "19th International Workshop on Rare Earth Permanent Magnets & Their Applications", held in Beijing on August 30-Spetember 2 of 2006.

  5. Therapeutics for Rare and Neglected Diseases

    Data.gov (United States)

    Federal Laboratory Consortium — There are more than 6,500 identified rare and neglected diseases, yet only about 250 treatments are available for these conditions. The limited numbers of patients...

  6. China Not the Only Rare Earth Exporter

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Since China announced it was reducing exports of rare earth,there have been continuous voices in the international community demanding China expand exports or seek alternative resources. The United States has also complained to the WTO that China is hoarding the commodity. Subjected to scathing censure,what difficulties are facing China’s rare earth industry? When other countries seek alternative resources,how is the Chinese rare earth market affected? Economy&Nation Weekly,Xinhua News Agency’s finance magazine,recently interviewed Lin Donglu,Secretary General of the Chinese Society of Rare Earths,and Wang Hongqian, General Manager of China Non-Ferrous Metal Industry’s Foreign Engineering and Construction Co.Ltd.Edited excerpts follow

  7. Characterization of Rare Events in Molecular Dynamics

    Directory of Open Access Journals (Sweden)

    Carsten Hartmann

    2013-12-01

    Full Text Available A good deal of molecular dynamics simulations aims at predicting and quantifying rare events, such as the folding of a protein or a phase transition. Simulating rare events is often prohibitive, especially if the equations of motion are high-dimensional, as is the case in molecular dynamics. Various algorithms have been proposed for efficiently computing mean first passage times, transition rates or reaction pathways. This article surveys and discusses recent developments in the field of rare event simulation and outlines a new approach that combines ideas from optimal control and statistical mechanics. The optimal control approach described in detail resembles the use of Jarzynski’s equality for free energy calculations, but with an optimized protocol that speeds up the sampling, while (theoretically giving variance-free estimators of the rare events statistics. We illustrate the new approach with two numerical examples and discuss its relation to existing methods.

  8. International Rare Histiocytic Disorders Registry (IRHDR)

    Science.gov (United States)

    2016-04-25

    Rare Histiocytic Disorders (RHDs); Juvenile Xanthogranuloma (JXG); Reticulohistiocytoma (Epithelioid Histiocytoma); Xanthoma Disseminatum (XD); Multicentric Reticulohistiocytosis (MRH); Systemic Juvenile Xanthogranuloma; Erdheim-Chester Disease (ECD); Multi-system Rosai-Dorfman Disease (RDD)

  9. Ciliates and the rare biosphere: a review.

    Science.gov (United States)

    Dunthorn, Micah; Stoeck, Thorsten; Clamp, John; Warren, Alan; Mahé, Frédéric

    2014-01-01

    Here we provide a brief review of the rare biosphere from the perspective of ciliates and other microbial eukaryotes. We trace research on rarity from its lack of much in-depth focus in morphological and Sanger sequencing projects, to its central importance in analyses using high throughput sequencing strategies. The problem that the rare biosphere is potentially comprised of mostly errors is then discussed in the light of asking community-comparative, novel-diversity, and ecosystem-functioning questions.

  10. 2004 Top 10 Chinese Rare Earth Events

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    1. Management to the Investment in Rare Earth IndustryConfirmedIn July 2004, "Decision on the Reform in Investment System" was formally publicized by the State Council of the People's Republic of China. The fifth item in the Decision stipulates that ore exploitation, smelting & separation and rare earth deep-processed projects with total investment over RMB¥100 million should be approved by the investment governing department of the State Council, and that other

  11. Proteus syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Keerthi Talari

    2012-01-01

    Full Text Available Proteus syndrome (PS is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands.

  12. The Facility for Rare Isotope Beams

    OpenAIRE

    Wrede C.

    2015-01-01

    The Facility for Rare Isotope Beams (FRIB) is a United States Department of Energy user facility currently under construction on the campus of Michigan State University. Based on a 400 kW, 200 MeV/u heavy-ion driver linac, FRIB will deliver high-quality fast, thermalized, and re-accelerated beams of rare isotopes with unprecedented intensities to a variety of experimental areas and equipment. New science opportunities at the frontiers of nuclear structure, nuclear astrophysics, fundamental sy...

  13. A rare presentation of an acute appendicitis

    Science.gov (United States)

    Kordzadeh, Ali; Lorenzi, Bruno; Kalyan, Jiten P.; Hanif, Muhammad A.; Charalabopoulos, Alexandros

    2017-01-01

    Paraumbilical hernia sac usually contains omentum, bowel loop and rarely appendicular epiploicae, metastatic deposits and vermiform appendix. Presentation of acute appendicitis in a paraumbilical hernia is rare and limited to few case reports in the literature. Herein, we would like to report a case of a successfully treated acute appendicitis presenting in a paraumbilical hernia in an 84-year-old lady with 6-month follow-up. PMID:28096326

  14. Ambras syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    A Ishita

    2016-01-01

    Full Text Available Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS, which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.

  15. Rare Z decays and neutrino flavor universality

    Energy Technology Data Exchange (ETDEWEB)

    Durieux, Gauthier [Deutsches Elektronen-Synchrotron (DESY), Hamburg (Germany); Cornell Univ. Ithaca, NY (United States). Lab. for Elementary Particle Physics; Univ. Catholique de Louvain, Louvain-la-Neuve (Belgium). Centre for Cosmology, Particle Physics and Phenomenology; Grossman, Yuval; Kuflik, Erik [Cornell Univ. Ithaca, NY (United States). Lab. for Elementary Particle Physics; Koenig, Matthias [Mainz Univ. (Germany). PRISMA Cluster of Excellence; Mainz Univ. (Germany). Mainz Inst. for Theoretical Physics; Ray, Shamayita [Cornell Univ. Ithaca, NY (United States). Lab. for Elementary Particle Physics; Calcutta Univ. (India). Dept. of Physics

    2015-12-15

    We study rare four-body decays of the Z-boson involving at least one neutrino and one charged lepton. Large destructive interferences make these decays very sensitive to the Z couplings to neutrinos. As the identified charged leptons can determine the neutrino flavors, these decays probe the universality of the Z couplings to neutrinos. The rare four-body processes could be accurately measured at future lepton colliders, leading to percent level precision.

  16. Mastoid osteoma: Report of a rare case

    Directory of Open Access Journals (Sweden)

    Syarifah Nafisah Syed Hamzah Al-Yahya

    2015-07-01

    Full Text Available Mastoid osteoma is a rare tumour with incidence of 0.1–1% of all benign head and neck tumours. It usually presents as a slow growing, hard and painless posterior auricular swelling in which medical attention is sought most commonly on cosmetic grounds. This report discusses our finding of such a rare case that was managed in our department and from its presentation, clinical findings, differential diagnosis, and treatment aspects.

  17. 12 Ministries Control Rare Earth Exports

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    <正>"It is very natural to reserve rare earth as a strategic resource.Many countries do this,including China."On April 8,Sun Lihui,Vice Director of Metal Section of Chemicals Import & Export Commerce Chamber of China Minmetals Corporation told a reporter that as early as 2006,China has launched a strategic plan for rare earth,"but it was interrupted by the subsequent financial crisis."

  18. Measurements of charm rare decays at LHCb

    CERN Document Server

    Vacca, Claudia

    2015-01-01

    Following the intriguing hints of deviations from the Standard Model in rare B meson decays, searches for rare and forbidden decays of charm hadrons become a hot topic again. We present recent results on Flavour Changing Neutral Current $D^{0}\\rightarrow\\mu^+ \\mu^-$, $D^0 \\rightarrow\\mu^+\\mu^- \\pi^+ \\pi^-$, $D^{\\pm}_{(s)}\\rightarrow \\pi^{\\pm} \\mu^+\\mu^-$ and LFV $D^{\\pm}_{(s)}\\rightarrow \\pi^{\\mp}\\mu^{\\pm}\\mu^{\\pm}$ obtained at LHCb.

  19. Mediastinal angiomatosis: a rare case report

    OpenAIRE

    Pak, Min Gyoung; Choi, Phil Jo; Choi, Won Suk; Kang, Eun Ju; Roh, Mee Sook

    2015-01-01

    Angiomatosis refers to a rare condition of large hamartomatous vascular lesions that extensively affect a region of the body or several different tissue types in a contiguous way. Several cases have been reported in the mediastinum. We experienced a histologically proven case of mediastinal angiomatosis in a 56-year-old woman that was incidentally detected as multiple conglomerated masses mimicking metastatic lymph nodes on chest radiography. Despite its rareness, our case emphasizes that pat...

  20. Ternary rare earth-lanthanide sulfides

    Science.gov (United States)

    Takeshita, Takuo; Gschneidner, Jr., Karl A.; Beaudry, Bernard J.

    1987-01-06

    A new ternary rare earth sulfur compound having the formula: La.sub.3-x M.sub.x S.sub.4 where M is a rare earth element selected from the group europium, samarium and ytterbium and x=0.15 to 0.8. The compound has good high-temperature thermoelectric properties and exhibits long-term structural stability up to 1000.degree. C.

  1. Rare Z Decays and Neutrino Flavor Universality

    CERN Document Server

    Durieux, Gauthier; König, Matthias; Kuflik, Eric; Ray, Shamayita

    2015-01-01

    We study rare four-body decays of the Z-boson involving at least one neutrino and one charged lepton. Large destructive interferences make these decays very sensitive to the Z couplings to neutrinos. As the identified charged leptons can determine the neutrino flavors, these decays probe the universality of the Z couplings to neutrinos. The rare four-body processes could be accurately measured at future lepton colliders, leading to percent level precision.

  2. Floral double mesiodentes: A rare case report.

    Science.gov (United States)

    Singaraju, Gowri Sankar; Reddy, B Rama Mohan; Supraja, G; Reddy, K Narayana

    2015-01-01

    Mesiodens is the most commonly erupting supernumerary in the midline between two maxillary central incisors. Mesiodentes is a rare condition when mesiodens erupt in multiples, which may present as either labial or palatal to permanent central incisors. We report a rare case of double mesiodentes (non-syndromic mesiodentes) with floret like appearance. The presence of mesiodens has functional and esthetic implications. Careful radiographic evaluation should be done to prevent complications during their extraction.

  3. Rare species are valued big time.

    Directory of Open Access Journals (Sweden)

    Elena Angulo

    Full Text Available BACKGROUND: It has recently been postulated that the value humans place on rarity could cause the extinction of rare species. This is because people are willing to pay the high costs of exploiting the last individuals. Many hobbies, such as ecotourism or the keeping of exotic pets may cause this effect--known as the anthropogenic Allee effect. However, the entire theory relies on the insofar undemonstrated assumption that people do value rarity. METHODOLOGY/PRINCIPAL FINDINGS: In order to quantify how much people valued rare species relative to common ones, we created online slideshows of photographs of either rare or common species on an Internet web site. The slideshow with photographs of rare species attracted more visitors, and visitors spent, in general, more time waiting to view it. CONCLUSIONS/SIGNIFICANCE: We provide evidence that people value rare more than common species. As we did not target consumers of a specific market, this finding suggests that the anthropogenic Allee effect is likely be driven by a large part of the population. Given the substantial participation in our online experiment, we highlight the potential of the world wide web resource as a tool for conservation action. However, the evidence presented here that the general public value rare species, combined with the assumption that anthropogenic Allee effect is operating, implies that conservationists should be prudent when using rarity to promote conservation.

  4. Separation of rare gases and chiral molecules by selective binding in porous organic cages

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Linjiang; Reiss, Paul S.; Chong, Samantha Y.; Holden, Daniel; Jelfs, Kim E.; Hasell, Tom; Little, Marc A.; Kewley, Adam; Briggs, Michael E.; Stephenson, Andrew; Thomas, K. M.; Armstrong, Jayne A.; Bell, Jon; Busto, Jose; Noel, Raymond; Liu, Jian; Strachan, Denis M.; Thallapally, Praveen K.; Cooper, Andrew I.

    2014-10-31

    Abstract: The rare gases krypton, xenon, and radon pose both an economic opportunity and a potential environmental hazard. Xenon is used in commercial lighting, medical imaging, and anesthesia, and can sell for $5,000 per kilogram. Radon, by contrast, Is naturally radioactive and the second largest cause of lung cancer, and radioactive xenon, 133Xe, was a major pollutant released In the Fukushima Daiichi Nuclear Power Plant disaster. We describe an organic cage molecule that can capture xenon and radon with unprecedented selectivity, suggesting new technologies for environmental monitoring, removal of pollutants, or the recovery of rare, valuable elements from air.

  5. Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association

    Directory of Open Access Journals (Sweden)

    Usha Rani Singh

    2012-01-01

    Full Text Available Xeroderma pigmentosum-Cockayne syndrome (XP-CS includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP-CS, with facial phenotype of CS, and CNS demyelination.

  6. Importance of rare gene copy number alterations for personalized tumor characterization and survival analysis.

    Science.gov (United States)

    Seifert, Michael; Friedrich, Betty; Beyer, Andreas

    2016-10-03

    It has proven exceedingly difficult to ascertain rare copy number alterations (CNAs) that may have strong effects in individual tumors. We show that a regulatory network inferred from gene expression and gene copy number data of 768 human cancer cell lines can be used to quantify the impact of patient-specific CNAs on survival signature genes. A focused analysis of tumors from six tissues reveals that rare patient-specific gene CNAs often have stronger effects on signature genes than frequent gene CNAs. Further comparison to a related network-based approach shows that the integration of indirectly acting gene CNAs significantly improves the survival analysis.

  7. Pancreatic Metastasis from Prostate Cancer

    Directory of Open Access Journals (Sweden)

    Julian Jacob

    2010-01-01

    Full Text Available The pancreas is an unusual location for metastases from other primary cancers. Rarely, pancreatic metastases from kidney or colorectal cancers have been reported. However, a variety of other cancers may also spread to the pancreas. We report an exceptional case of pancreatic metastasis from prostate cancer. Differences in management between primary and secondary pancreatic tumors make recognition of metastases to the pancreas an objective of first importance. Knowledge of unusual locations for metastatic spread will reduce diagnostic delay and lead to a timely delivery of an appropriate treatment.

  8. Laryngeal metastasis from lung cancer

    OpenAIRE

    Umasankar Kalai; Karan Madan; Deepali Jain; Anant Mohan; Randeep Guleria

    2015-01-01

    Metastatic tumors of the larynx are rare. The most common tumors metastasizing to the larynx are melanoma and renal cell carcinoma. Bronchogenic carcinoma metastasizing to the larynx has been rarely described. Herein, we report the case of a 49-year-old, chronic smoker, who incidentally had a laryngeal growth detected during flexible bronchoscopy examination for evaluation of suspected lung cancer. Histopathological examination of the laryngeal nodule and the biopsy obtained from the main bro...

  9. Understanding Cancer Prognosis

    Medline Plus

    Full Text Available ... Genomics Study Findings Metastatic Cancer Metastatic Cancer Research Common Cancer Types Recurrent Cancer Common Cancer Types Bladder Cancer Breast Cancer Colorectal Cancer ...

  10. Testicular microlithiasis in a unilateral undescended testis: a rare phenomenon.

    Science.gov (United States)

    Sharma, S; Manchanda, V; Gupta, R

    2013-12-01

    Testicular microlithiasis (TM) is a rare benign condition with presence of multiple small microcalcifications in the seminiferous tubules. Though the aetiology is unknown, TM has been described in association with a variety of urological conditions. We report the clinico-pathological features of a 12-year-old male child who underwent orchidectomy for undescended testis. Histopathological examination of the excised testis showed multiple small intratubular calcifications without any evidence of testicular neoplasia. TM is an unusual phenomenon that should be kept in mind while evaluating testicular biopsies. Though it behaves in a benign manner in most of the cases, patients with positive family history of testicular cancer should be followed-up for testicular tumour.

  11. A Rare Case of Esophageal Adenocarcinoma with Urinary Bladder Metastasis

    Science.gov (United States)

    Saad, Rahoma E.; Denning, Krista; Pacioles, Toni O.

    2017-01-01

    Metastatic esophageal adenocarcinoma to the urinary bladder is extremely rare. We describe a previously healthy 49-year-old female with recent diagnosis of adenocarcinoma of the gastroesophageal junction with metastatic disease to the liver. Biopsy was positive for human epidermal growth factor receptor 2 (HER2) by Fluorescence In Situ Hybridization (FISH). She received six cycles of Cisplatin, 5-Fluorouracil, and Herceptin and subsequently developed symptomatic anemia and hematuria. Cystoscopy with retroflexion was performed and she received a transurethral resection of bladder tumor with fulguration. Pathology of the bladder tumor revealed similar morphology to her liver metastasis and immunohistochemical stains were consistent with metastatic esophageal cancer. Three weeks after being diagnosed with metachronous urinary bladder metastasis from esophageal adenocarcinoma primary, she expired. She only received her first cycle of palliative chemotherapy with Ramucirumab and Paclitaxel. PMID:28642830

  12. A Rare Case of Esophageal Adenocarcinoma with Urinary Bladder Metastasis

    Directory of Open Access Journals (Sweden)

    Heather Katz

    2017-01-01

    Full Text Available Metastatic esophageal adenocarcinoma to the urinary bladder is extremely rare. We describe a previously healthy 49-year-old female with recent diagnosis of adenocarcinoma of the gastroesophageal junction with metastatic disease to the liver. Biopsy was positive for human epidermal growth factor receptor 2 (HER2 by Fluorescence In Situ Hybridization (FISH. She received six cycles of Cisplatin, 5-Fluorouracil, and Herceptin and subsequently developed symptomatic anemia and hematuria. Cystoscopy with retroflexion was performed and she received a transurethral resection of bladder tumor with fulguration. Pathology of the bladder tumor revealed similar morphology to her liver metastasis and immunohistochemical stains were consistent with metastatic esophageal cancer. Three weeks after being diagnosed with metachronous urinary bladder metastasis from esophageal adenocarcinoma primary, she expired. She only received her first cycle of palliative chemotherapy with Ramucirumab and Paclitaxel.

  13. Herpes Simplex Encephalitis of the Parietal Lobe: A Rare Presentation

    Science.gov (United States)

    Tkachenko, Lara; Moisi, Marc; Rostad, Steven; Umeh, Randle; Zwillman, Michael E; Tubbs, R. Shane; Page, Jeni; Newell, David W.; Delashaw, Johnny B

    2016-01-01

    A 69-year-old female with a history of breast cancer and hypertension presented with a rare case of herpes simplex encephalitis (HSE) isolated to her left parietal lobe. The patient’s first biopsy was negative for herpes simplex virus (HSV) I/II antigens, but less than two weeks later, the patient tested positive on repeat biopsy. This initial failure to detect the virus and the similarities between HSE and symptoms of intracranial hemorrhage (ICH) suggests repeat testing for HSV in the presence of ICH. Due to the frequency of patients with extra temporal HSE, a diagnosis of HSE should be more readily considered, particularly when a patient may not be improving and a concrete diagnosis has not been solidified. PMID:27774355

  14. Herpes Simplex Encephalitis of the Parietal Lobe: A Rare Presentation.

    Science.gov (United States)

    Fisahn, Christian; Tkachenko, Lara; Moisi, Marc; Rostad, Steven; Umeh, Randle; Zwillman, Michael E; Tubbs, R Shane; Page, Jeni; Newell, David W; Delashaw, Johnny B

    2016-09-16

    A 69-year-old female with a history of breast cancer and hypertension presented with a rare case of herpes simplex encephalitis (HSE) isolated to her left parietal lobe. The patient's first biopsy was negative for herpes simplex virus (HSV) I/II antigens, but less than two weeks later, the patient tested positive on repeat biopsy. This initial failure to detect the virus and the similarities between HSE and symptoms of intracranial hemorrhage (ICH) suggests repeat testing for HSV in the presence of ICH. Due to the frequency of patients with extra temporal HSE, a diagnosis of HSE should be more readily considered, particularly when a patient may not be improving and a concrete diagnosis has not been solidified.

  15. Transitional cell carcinoma of the sinonasal tract: A rare entity

    Directory of Open Access Journals (Sweden)

    Madhumita Mondal

    2015-01-01

    Full Text Available Malignant sinonasal carcinomas are a rare entity comprising less than 1% of all cancers and around 3% of all head and neck malignancies seen in humans. Among these 15-20% are transitional cell carcinoma also known as non keratinizing carcinoma of sinonasal tract. We are reporting the case of a 45 years female with history of nasal obstruction and epistaxis. A contrast enhanced computed tomography (CECT was done which showed mucosal thickening in the right nasal cavity. Endoscopy assisted biopsy was taken which revealed non keratinizing carcinoma (transitional type. Very few reported cases of this type of malignancy was found. A possible reason could be multiple synonyms like cylindrical cell carcinoma, Schneiderian carcinoma and transitional cell carcinoma.

  16. Development of fast-release solid catchers for rare isotopes

    Science.gov (United States)

    Nolen, Jerry; Greene, John; Elam, Jeffrey; Mane, Anil; Sampathkumaran, Uma; Winter, Raymond; Hess, David; Mushfiq, Mohammad; Stracener, Daniel; Wiendenhoever, Ingo

    2015-04-01

    Porous solid catchers of rare isotopes are being developed for use at high power heavy ion accelerator facilities such as RIKEN, FRIB, and RISP. Compact solid catchers are complementary to helium gas catchers for parasitic harvesting of rare isotopes in the in-flight separators. They are useful for short lived isotopes for basic nuclear physics research and longer-lived isotopes for off-line applications. Solid catchers can operate effectively with high intensity secondary beams, e.g. >> 1E10 atoms/s with release times as short as 10-100 milliseconds. A new method using a very sensitive and efficient RGA has been commissioned off-line at Argonne and is currently being shipped to Florida State University for in-beam measurements of the release curves using stable beams. The same porous solid catcher technology is also being evaluated for use in targets for the production of medical isotopes such as 211-At. Research supported by the U.S. DOE Office of Nuclear Physics under the SBIR Program and Contract # DE-AC02-06CH11357 and a University of Chicago Comprehensive Cancer Center/ANL Pilot Project.

  17. Oral Verrucous Carcinoma and Ameloblastoma: A Rare Coincidence

    Directory of Open Access Journals (Sweden)

    Zohreh Dalirsani

    2015-03-01

    Full Text Available Introduction: Oral verrucous carcinoma (OVC is a rare malignancy of the oral cavity that was first described by Ackerman. This tumor is a well-differentiated low-grade, slow growing cancer that is locally invasive without metastasis. Ameloblastoma is one of the most common odontogenic tumors, which originates from the odontogenic epithelium. Verrucous carcinoma along with central ambloblastoma is a rare phenomenon.   Case Report: A case of verrucous carcinoma along with central ambloblastoma in a 49-year-old man, which was referred with a painless exophytic lesion with a verrucous and granular surface, is reported.  Panoramic radiography revealed a well-defined radiolucency with sclerotic borders. To the best available knowledge, this phenomenon has not yet been reported.   Conclusion:  Verrucous carcinoma could occur in the wall of odontogenic cysts and tumors and should be considered during the differential diagnosis of a radiolucency, which is observed in the jaws with rapid growth or which presents some changes from its previous appearance. 

  18. WARTHIN TUMOR LIKE PAPILLARY CARCINOMA OF THYROID: A RARE OCCURENCE

    Directory of Open Access Journals (Sweden)

    Shikha

    2015-12-01

    Full Text Available INTRODUCTION Among the thyroid cancers, papillary carcinoma is the most common type. Warthin tumor like papillary carcinoma of thyroid is a rare variant of papillary carcinoma. The distinguishing feature of this rare variant is papillary formations lined by tumor cells with oncocytic cytoplasm with nuclear features of papillary carcinoma and lymphoplasmacytic infiltrate in the papillary stalks with striking histological resemblance to Warthin’s tumor of salivary glands. A 46 years old female with complaints of painless swelling of the neck for four years and gradually increasing in size, measuring 3x2.5 cm on the right lobe of the thyroid gland. The swelling moved with deglutition, non-tender and firm to hard in consistency. Thyroid function was within normal limits. FNAC suggested a diagnosis of oxyphilic variant of papillary carcinoma of thyroid. It showed syncytial aggregates, sheets of cells and few papillary structures with focal nuclear crowding. The patient underwent bilateral total thyroidectomy and neck dissection. Microscopic examination showed predominantly follicles and small papillary structures lined by cells having eosinophilic cytoplasm and clear nucleus. There was lymphoid stroma in the core of papillae and interfolllicular areas. Hyalinized collagen, dystrophic calcification and follicles without colloid matter infiltrating the hyalinised area were seen. No lymphovascualr tumour embolization were noted. This tumor is found more commonly in women with Hashimoto’s thyroiditis. The prognosis is favourable as conventional papillary carcinoma. About 8% of Warthin’s tumor are detected in extraparotid locations.

  19. Partitioning properties of rare earth ores in China

    Institute of Scientific and Technical Information of China (English)

    CHI Ru'an; LI Zhongjun; PENG Cui; ZHU Guocai; XU Shengming

    2005-01-01

    The properties of rare earth partitioning in Chinese industrial rare earth ores were analyzed. Rare earth ores can be divided into the single-mineral type ore with bastnaesite, the multi-mineral type ore with bastnaesite and monazite, and the weathering crust type. Both the Bayan Obo rare earth ore and the Zhushan rare earth ore are a kind of mixed ore, consisting of bastnaesite and monazite. Their rare earth partitionings are strongly enriched in light rare earths, where CeO2 is 50% and the light rare earth partitioning is totally over 95%. The Mianning rare earth ore as well as the Weishan rare earth is a kind of rare earth ore only having bastnaesite. Their rare earth partitionings are also strongly enriched in light rare earths,in which CeO2 is 47% and the light rare earth partitioning is totally over 94%. For the weathering crust type rare earth ore,there are the Longnan rare earth ore, the Xunwu rare earth ore, and the middle yttrium and rich europium ore. In the Longnan rare earth ore, which is strongly enriched in heavy rare earths, Y2O3 is 64.83%, and the heavy and light rare earth partitionings are 89.40% and 10.53%, respectively. In the Xunwu rare earth ore, which is strongly enriched in light rare earths, CeO2 is 47.16%, and the light rare earth partitioning is totally 93.25%. Y and Eu are enriched in the middle yttrium and rich europium ore. Its middle rare earth partitioning is totally over 10%, and Eu2O3 and Y2O3 are over 0.5% and 20%,respectively, which are mainly industrial resources of the middle and the heavy rare earths.

  20. Refined potentials for rare gas atom adsorption on rare gas and alkali-halide surfaces

    Science.gov (United States)

    Wilson, J. W.; Heinbockel, J. H.; Outlaw, R. A.

    1985-01-01

    The utilization of models of interatomic potential for physical interaction to estimate the long range attractive potential for rare gases and ions is discussed. The long range attractive force is calculated in terms of the atomic dispersion properties. A data base of atomic dispersion parameters for rare gas atoms, alkali ion, and halogen ions is applied to the study of the repulsive core; the procedure for evaluating the repulsive core of ion interactions is described. The interaction of rare gas atoms on ideal rare gas solid and alkali-halide surfaces is analyzed; zero coverage absorption potentials are derived.

  1. Rare event simulation using Monte Carlo methods

    CERN Document Server

    Rubino, Gerardo

    2009-01-01

    In a probabilistic model, a rare event is an event with a very small probability of occurrence. The forecasting of rare events is a formidable task but is important in many areas. For instance a catastrophic failure in a transport system or in a nuclear power plant, the failure of an information processing system in a bank, or in the communication network of a group of banks, leading to financial losses. Being able to evaluate the probability of rare events is therefore a critical issue. Monte Carlo Methods, the simulation of corresponding models, are used to analyze rare events. This book sets out to present the mathematical tools available for the efficient simulation of rare events. Importance sampling and splitting are presented along with an exposition of how to apply these tools to a variety of fields ranging from performance and dependability evaluation of complex systems, typically in computer science or in telecommunications, to chemical reaction analysis in biology or particle transport in physics. ...

  2. [SZCZECIN CITIZENS' KNOWLEDGE ABOUT RARE DISEASES].

    Science.gov (United States)

    Walat, Anna; Skoczylas, Michal Marian; Welnicka, Agnieszka; Kulig, Malgorzata; Rodak, Przemyslaw; Walczak, Zuzanna; Jablońska, Agata

    2014-01-01

    The aim of the study was to assess knowledge about rare diseases among citizens of Szczecin (Poland). The study was performed by questioning 242 adult customers of Turzyn Shopping Centre in Szczecin (149 females and 93 males). The survey was conducted in the shopping mall on 23 February 2013 (control group) and during the celebration of Rare Disease Day and the 12th Polish Nationwide Cystic Fibrosis Week ("Dolina Mukolinków") on 2 March 2013 (research group). The research tool was a questionnaire devised by the authors and filled out by the writing authors interviewer's answers. In the study group more people knew about the existence of Rare Disease Day than in the control group (86.02% vs 57.72%, chi-square test χ2 > χ2(1); 0.001, p χ2(1); 0.001, p < 0.001). The respondents from the research group knew more about Rare Disease Day and defined the idea of it as closed in a significantly higher degree than the control group. There was no significant difference in the detailed knowledge about rare diseases in either group. This might indicate the need to educate society and patients, along with their families.

  3. Anisotropy of rare-earth magnets

    Institute of Scientific and Technical Information of China (English)

    R.Skomski; D.J.Sellmyer

    2009-01-01

    Rare-earth intermetallics such as Nd2FeI4B and Sm-Co are widely used as high-performance permanent magnets,because they combine high magnetocrystalline anisotropy with reasonable magnetization and Curie temperature.The anisotropy is a combined effect of spin-orbit coupling and electrostatic crystal-field interactions.The main contribution comes from the rare-earth 4f electrons,which are well-screened from the crystalline environment but exhibit a strong spin-orbit coupling.In this limit,the magnetocrystalline anisotropy has a very transparent physical interpretation,the anisotropy energy essentially being equal to the energy of Hund's-rules 4f ion in the crystal field.The corresponding expression for the lowest-order uniaxial anisotropy constant K1 is used to discuss rare-earth substitutions,which have recently attracted renewed interest due to shifts in the rare-earth production and demand.Specific phenomena reviewed in this article are the enhancement of the anisotropy of Sm2Fe17 due to interstitial nitrogen,the use of Sm-Co magnets for high-temperature applications,and the comparison of rare-earth single-ion anisotropy with other single-ion and two-ion mechanisms.

  4. Rare earth elements and permanent magnets (invited)

    Science.gov (United States)

    Dent, Peter C.

    2012-04-01

    Rare earth (RE) magnets have become virtually indispensible in a wide variety of industries such as aerospace, automotive, electronics, medical, and military. RE elements are essential ingredients in these high performance magnets based on intermetallic compounds RECo5, RE2TM17 (TM: transition metal), and RE2TM14B. Rare earth magnets are known for their superior magnetic properties—high induction, and coercive force. These properties arise due to the extremely high magnetocrystalline anisotropy made possible by unique 3d-4f interactions between transition metals and rare earths. For more than 40 years, these magnets remain the number one choice in applications that require high magnetic fields in extreme operating conditions—high demagnetization forces and high temperature. EEC produces and specializes in RECo5 and RE2TM17 type sintered magnets. Samarium and gadolinium are key RE ingredients in the powder metallurgical magnet production processes which include melting, crushing, jet milling, pressing, sintering, and heat treating. The magnetic properties and applications of these magnets will be discussed. We will also briefly discuss the past, current, and future of the permanent magnet business. Currently, over 95% of all pure rare earth oxides are sourced from China, which currently controls the market. We will provide insights regarding current and potential new magnet technologies and designer choices, which may mitigate rare earth supply chain issues now and into the future.

  5. Recovering heavy rare earth metals from magnet scrap

    Energy Technology Data Exchange (ETDEWEB)

    Ott, Ryan T.; McCallum, Ralph W.; Jones, Lawrence L.

    2017-08-08

    A method of treating rare earth metal-bearing permanent magnet scrap, waste or other material in a manner to recover the heavy rare earth metal content separately from the light rare earth metal content. The heavy rare earth metal content can be recovered either as a heavy rare earth metal-enriched iron based alloy or as a heavy rare earth metal based alloy.

  6. Testicular cancer

    Science.gov (United States)

    Cancer - testes; Germ cell tumor; Seminoma testicular cancer; Nonseminoma testicular cancer; Testicular neoplasm ... There are two main types of testicular cancer: Seminomas Nonseminomas These cancers grow from germ cells, the ...

  7. Nuclear Astrophysics with rare isotopes at FRIB

    Science.gov (United States)

    Schatz, Hendrik

    2011-05-01

    The Facility for Rare Isotope Beams (FRIB) currently under construction at Michigan State University will be one of the worlds’ most powerful accelerators to produce rare isotopes. These isotopes live only fractions of seconds, but their properties are imprinted onto the composition of the visible universe and the nature of stellar explosions. FRIB will produce for the first time many of the rare isotopes that are part of the rapid neutron capture process, responsible for the origin of heavy elements; it will measure reaction rates that govern stellar explosions such as supernovae, novae, and X-ray bursts; and it will produce the same exotic nuclei that form the crust of neutron stars. I will discuss how data from FRIB, together with new observational data, promise to address many open questions at the intersection of nuclear physics and astronomy, including the chemical evolution of our Galaxy, the nuclear energy sources of stellar explosions, and the nature of neutron stars.

  8. Efficient estimation of rare-event kinetics

    CERN Document Server

    Trendelkamp-Schroer, Benjamin

    2014-01-01

    The efficient calculation of rare-event kinetics in complex dynamical systems, such as the rate and pathways of ligand dissociation from a protein, is a generally unsolved problem. Markov state models can systematically integrate ensembles of short simulations and thus effectively parallelize the computational effort, but the rare events of interest still need to be spontaneously sampled in the data. Enhanced sampling approaches, such as parallel tempering or umbrella sampling, can accelerate the computation of equilibrium expectations massively - but sacrifice the ability to compute dynamical expectations. In this work we establish a principle to combine knowledge of the equilibrium distribution with kinetics from fast "downhill" relaxation trajectories using reversible Markov models. This approach is general as it does not invoke any specific dynamical model, and can provide accurate estimates of the rare event kinetics. Large gains in sampling efficiency can be achieved whenever one direction of the proces...

  9. Rare wild Orchids at CERN Meyrin

    CERN Multimedia

    2005-01-01

    There are several "Floral Nature Reserve - Late Mowing" zones at CERN Meyrin. The blossoms of a rare and a not so rare type of wild orchid are currently in flower. The rare one is the bee orchid (Ophrys Apifera) which is a protected perennial. They are very unusual and in some years can appear in great numbers and then sometimes only reappear after a decade. They live in a symbiotic relationship with a soil-dwelling fungus. Its name stems from the fact that its brown, furry lip resembles and smells like a female bee, a mimicry used to attract drones to aid in pollination. The much more distributed species is the pyramidal orchid (Anacamptis Pyramidalis), which due to its size and its bright pink colour is already visible when you pass by in your car.

  10. Rare wild Orchids at CERN Meyrin

    CERN Multimedia

    2005-01-01

    There are several "Floral Nature Reserve - Late Mowing" zones at CERN Meyrin. The blossoms of a rare and a not so rare type of wild orchid are currently in flower. The rare one is the bee orchid (Ophrys Apifera) which is a protected perennial. They are very unusual and in some years can appear in great numbers and then sometimes only reappear after a decade. They live in a symbiotic relationship with a soil-dwelling fungus. Its name stems from the fact that its brown, furry lip resembles and smells like a female bee, a mimicry used to attract drones to aid in pollination. The much more distributed species is the pyramidal orchid (Anacamptis Pyramidalis), which due to its size and its bright pink colour is already visible when you pass by in your car. Photos were taken on the late mowing zone adjacent to route Einstein opposite building 57 on 4 June 2005.

  11. An Erupted Dilated Odontoma: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Gaurav Sharma

    2016-01-01

    Full Text Available A dilated odontoma is an extremely rare developmental anomaly represented as a dilatation of the crown and root as a consequence of a deep, enamel-lined invagination and is considered a severe variant of dens invaginatus. An oval shape of the tooth lacking morphological characteristics of a crown or root implies that the invagination happened in the initial stages of morphodifferentiation. Spontaneous eruption of an odontoma is a rare occurrence and the occurrence of a dilated odontoma in a supernumerary tooth is even rarer with only a few case reports documented in the English literature. We present an extremely rare case of erupted dilated odontoma occurring in the supernumerary tooth in anterior maxillary region in an 18-year-old male, which, to the best of our knowledge, is the first ever case reported in English literature.

  12. An Erupted Dilated Odontoma: A Rare Presentation

    Science.gov (United States)

    Sharma, Gaurav; Nagra, Amritpreet; Singh, Gurkeerat; Nagpal, Archna; Soin, Atul; Bhardwaj, Vishal

    2016-01-01

    A dilated odontoma is an extremely rare developmental anomaly represented as a dilatation of the crown and root as a consequence of a deep, enamel-lined invagination and is considered a severe variant of dens invaginatus. An oval shape of the tooth lacking morphological characteristics of a crown or root implies that the invagination happened in the initial stages of morphodifferentiation. Spontaneous eruption of an odontoma is a rare occurrence and the occurrence of a dilated odontoma in a supernumerary tooth is even rarer with only a few case reports documented in the English literature. We present an extremely rare case of erupted dilated odontoma occurring in the supernumerary tooth in anterior maxillary region in an 18-year-old male, which, to the best of our knowledge, is the first ever case reported in English literature. PMID:26989523

  13. An Erupted Dilated Odontoma: A Rare Presentation.

    Science.gov (United States)

    Sharma, Gaurav; Nagra, Amritpreet; Singh, Gurkeerat; Nagpal, Archna; Soin, Atul; Bhardwaj, Vishal

    2016-01-01

    A dilated odontoma is an extremely rare developmental anomaly represented as a dilatation of the crown and root as a consequence of a deep, enamel-lined invagination and is considered a severe variant of dens invaginatus. An oval shape of the tooth lacking morphological characteristics of a crown or root implies that the invagination happened in the initial stages of morphodifferentiation. Spontaneous eruption of an odontoma is a rare occurrence and the occurrence of a dilated odontoma in a supernumerary tooth is even rarer with only a few case reports documented in the English literature. We present an extremely rare case of erupted dilated odontoma occurring in the supernumerary tooth in anterior maxillary region in an 18-year-old male, which, to the best of our knowledge, is the first ever case reported in English literature.

  14. Pancreatic Cancer Genetics.

    Science.gov (United States)

    Amundadottir, Laufey T

    2016-01-01

    Although relatively rare, pancreatic tumors are highly lethal [1]. In the United States, an estimated 48,960 individuals will be diagnosed with pancreatic cancer and 40,560 will die from this disease in 2015 [1]. Globally, 337,872 new pancreatic cancer cases and 330,391 deaths were estimated in 2012 [2]. In contrast to most other cancers, mortality rates for pancreatic cancer are not improving; in the US, it is predicted to become the second leading cause of cancer related deaths by 2030 [3, 4]. The vast majority of tumors arise in the exocrine pancreas, with pancreatic ductal adenocarcinoma (PDAC) accounting for approximately 95% of tumors. Tumors arising in the endocrine pancreas (pancreatic neuroendocrine tumors) represent less than 5% of all pancreatic tumors [5]. Smoking, type 2 diabetes mellitus (T2D), obesity and pancreatitis are the most consistent epidemiological risk factors for pancreatic cancer [5]. Family history is also a risk factor for developing pancreatic cancer with odds ratios (OR) ranging from 1.7-2.3 for first-degree relatives in most studies, indicating that shared genetic factors may play a role in the etiology of this disease [6-9]. This review summarizes the current knowledge of germline pancreatic cancer risk variants with a special emphasis on common susceptibility alleles identified through Genome Wide Association Studies (GWAS).

  15. Fourier-ring descriptor to characterize rare circulating cells from images generated using immunofluorescence microscopy.

    Science.gov (United States)

    Emerson, Tegan; Kirby, Michael; Bethel, Kelly; Kolatkar, Anand; Luttgen, Madelyn; O'Hara, Stephen; Newton, Paul; Kuhn, Peter

    2015-03-01

    We address the problem of subclassification of rare circulating cells using data driven feature selection from images of candidate circulating tumor cells from patients diagnosed with breast, prostate, or lung cancer. We determine a set of low level features which can differentiate among candidate cell types. We have implemented an image representation based on concentric Fourier rings (FRDs) which allow us to exploit size variations and morphological differences among cells while being rotationally invariant. We discuss potential clinical use in the context of treatment monitoring for cancer patients with metastatic disease.

  16. Pathological Fracture of the Femur by Metastatic Carcinoma Penis-a Rare Presentation.

    Science.gov (United States)

    Hussain, Shabbir; Solanki, Fanindra Singh; Sharma, Deepti B; Sharma, Dhananjay

    2016-04-01

    We report herein a clinical case of a patient with femur fracture due to metastasis from penile squamous cell carcinoma. A young man, who was treated for carcinoma penis, presented with pathological fracture of femur and lung metastasis from metastatic carcinoma penis after 18 months. Long bone metastasis from penile cancer is extremely rare, to the best of our knowledge; this is the first report of a patient with penile cancer spread to the femur from primary squamous cell carcinoma of the penis.

  17. A New Benzofuran Glycoside and Indole Alkaloids from a Sponge-Associated Rare Actinomycete, Amycolatopsis sp.

    Directory of Open Access Journals (Sweden)

    Yun Kwon

    2014-04-01

    Full Text Available Three new secondary metabolites, amycofuran (1, amycocyclopiazonic acid (2, and amycolactam (3, were isolated from the sponge-associated rare actinomycete Amycolatopsis sp. Based on combined spectroscopic analyses, the structures of 1–3 were determined to be a new benzofuran glycoside and new indole alkaloids related to cyclopiazonic acids, a class that has previously only been reported in fungi. The absolute configurations of 1 and 3 were deduced by ECD calculations, whereas that of 2 was determined using the modified Mosher method. Amycolactam (3 displayed significant cytotoxicity against the gastric cancer cell line SNU638 and the colon cancer cell line HCT116.

  18. Collaboration for rare disease drug discovery research

    Science.gov (United States)

    Litterman, Nadia K.; Rhee, Michele; Swinney, David C.; Ekins, Sean

    2014-01-01

    Rare disease research has reached a tipping point, with the confluence of scientific and technologic developments that if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. Industry-wide trends have revealed that the traditional drug discovery research and development (R&D) model is no longer viable, and drug companies are evolving their approach. Rather than only pursue blockbuster therapeutics for heterogeneous, common diseases, drug companies have increasingly begun to shift their focus to rare diseases. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the lack of funding and translational capability severely limits the rare disease research that leads to clinical trials. Simultaneously, there is a movement towards increased research collaboration, more data sharing, and heightened engagement and active involvement by patients, advocates, and foundations. The growth in networks and social networking tools presents an opportunity to help reach other patients but also find researchers and build collaborations. The growth of collaborative software that can enable researchers to share their data could also enable rare disease patients and foundations to manage their portfolio of funded projects for developing new therapeutics and suggest drug repurposing opportunities. Still there are many thousands of diseases without treatments and with only fragmented research efforts. We will describe some recent progress in several rare diseases used as examples and propose how collaborations could be facilitated. We propose that the development of a center of excellence that integrates and shares informatics resources for rare diseases sponsored by all of the stakeholders would help foster these initiatives. PMID:25685324

  19. Collaboration for rare disease drug discovery research.

    Science.gov (United States)

    Litterman, Nadia K; Rhee, Michele; Swinney, David C; Ekins, Sean

    2014-01-01

    Rare disease research has reached a tipping point, with the confluence of scientific and technologic developments that if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. Industry-wide trends have revealed that the traditional drug discovery research and development (R&D) model is no longer viable, and drug companies are evolving their approach. Rather than only pursue blockbuster therapeutics for heterogeneous, common diseases, drug companies have increasingly begun to shift their focus to rare diseases. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the lack of funding and translational capability severely limits the rare disease research that leads to clinical trials. Simultaneously, there is a movement towards increased research collaboration, more data sharing, and heightened engagement and active involvement by patients, advocates, and foundations. The growth in networks and social networking tools presents an opportunity to help reach other patients but also find researchers and build collaborations. The growth of collaborative software that can enable researchers to share their data could also enable rare disease patients and foundations to manage their portfolio of funded projects for developing new therapeutics and suggest drug repurposing opportunities. Still there are many thousands of diseases without treatments and with only fragmented research efforts. We will describe some recent progress in several rare diseases used as examples and propose how collaborations could be facilitated. We propose that the development of a center of excellence that integrates and shares informatics resources for rare diseases sponsored by all of the stakeholders would help foster these initiatives.

  20. A rare case of breast carcinoma co-existing with axillary mantle cell lymphoma

    Directory of Open Access Journals (Sweden)

    Scally John

    2003-12-01

    Full Text Available Abstract Background Mantle cell lymphoma (MCL is a rare variety of non-Hodgkin's lymphoma which originates from CD5+ B-cell population in the mantle zones of lymphoid follicles. Coexistence of such tumours in the axillary lymph nodes with invasive breast cancers without prior history of adjuvant chemotherapy or radiotherapy has not been previously reported in literature. Case report We report a rare case of breast cancer co-existing with stage I mantle cell lymphoma of the ipsilateral axillary lymph node detected fortuitously by population screening. Conclusion Though some studies have tried to prove breast carcinomas and lymphomas to share a common molecular or viral link, more research needs to be done to establish whether such a link truly exists.

  1. Cardiac tamponade as the first clinical sign of gastric adenocarcinoma: a rare condition.

    Science.gov (United States)

    Arısoy, Arif; Memiç, Kadriye; Karavelioğlu, Yusuf; Sen, Fatma

    2014-06-01

    Cardiac tamponade originating from a primary gastric cancer (GC) is a rare condition. Patients are generally asymptomatic until the disease is advanced. We report a rare patient with cardiac tamponade as the first manifestation of primary GC. A 46-year-old male was admitted with progressive dyspnea. Cardiac tamponade was diagnosed on two-dimensional ultrasonographic echocardiography. Pericardiocentesis yielded 1500 ml of bloody fluid. Pericardial cytologic examination was positive for malignant cells. The patient underwent abdominal computed tomography scan, which showed thickening of the gastric wall and several mesenteric lymph nodes. Endoscopic examination of the stomach disclosed malignant ulcer along the lesser curvature, and the biopsy showed diffuse type adenocarcinoma. Chemotherapy was initiated by the Oncology Department, and he had no pericardial effusion after six courses of systemic chemotherapy. In conclusion, this is a rare condition and difficult to diagnosis early. Thus, physicians should be aware of malignancy of the stomach when patients present with unexplained cardiac manifestations.

  2. A CRISPR/Cas9 Functional Screen Identifies Rare Tumor Suppressors

    Science.gov (United States)

    Katigbak, Alexandra; Cencic, Regina; Robert, Francis; Sénécha, Patrick; Scuoppo, Claudio; Pelletier, Jerry

    2016-01-01

    An enormous amount of tumor sequencing data has been generated through large scale sequencing efforts. The functional consequences of the majority of mutations identified by such projects remain an open, unexplored question. This problem is particularly complicated in the case of rare mutations where frequency of occurrence alone or prediction of functional consequences are insufficient to distinguish driver from passenger or bystander mutations. We combine genome editing technology with a powerful mouse cancer model to uncover previously unsuspected rare oncogenic mutations in Burkitt’s lymphoma. We identify two candidate tumor suppressors whose loss cooperate with MYC over-expression to accelerate lymphomagenesis. Our results highlight the utility of in vivo CRISPR/Cas9 screens combined with powerful mouse models to identify and validate rare oncogenic modifier events from tumor mutational data. PMID:27982060

  3. A Rare Cause of Hypopituitarism: Pituitary Tuberculosis

    Directory of Open Access Journals (Sweden)

    Şazi İmamoğlu

    2012-03-01

    Full Text Available Pituitary tuberculosis is a rare condition that can present with hypopituitarism even without any evidence of systemic tuberculosis and is easily confused with pituitary adenomas. Headache and hypopituitarism are the most common presenting symptoms. We report the case of pituitary tuberculosis in a 39-year-old male patient who presented with panhypopituitarism. Although it is rare and difficult to diagnose, pituitary tuberculosis should be considered in every nonfunctional sellar masses, especially in fairly small ones with unexpected hypopituitarism. Turk Jem 2012; 16: 26-8

  4. Odontoameloblastoma: A rare case with unusual presentation

    Directory of Open Access Journals (Sweden)

    Supreet Jain

    2016-01-01

    Full Text Available The odontoameloblastoma (OA, also known as ameloblastic odontoma, is a very rare odontogenic tumor that is similar to ameloblastoma in its locally aggressive behavior. OA includes odontogenic ectomesenchyme in addition to odontogenic epithelium that resembles an ameloblastoma both in structure and in behavior. Its clinical presentation, however, often mimics the more innocuous odontoma, and hence, the recognition of its aggressive nature is commonly only ascertained after its histopathologic diagnosis following enucleation. This paper presents a rare case of OA with unusual clinical and radiological features.

  5. A rare case of isolated female epispadias

    Directory of Open Access Journals (Sweden)

    Charu Tiwari

    2016-09-01

    Full Text Available Isolated female epispadias without bladder exstrophy is an extremely rare entity. It usually presents with primary urinary incontinence and abnormal external genitalia. We describe this rare congenital anomaly in a 7-year-old girl who presented with urinary incontinence and abnormal external genitalia. She had a bifid clitoris and labia minora were widely separated. The vagina was normal. Voiding Cysto-urethrography (VCUG showed small capacity bladder with no reflux. Surgical reconstruction of the urethra, labia minora and clitoris was performed.

  6. Meningeal fibroma: a rare meningioma mimic.

    Science.gov (United States)

    Kakkar, Aanchal; Sharma, Mehar C; Goyal, Nishant; Sarkar, Chitra; Suri, Vaishali; Garg, Ajay; Kale, Shashank S; Suri, Ashish

    2014-08-01

    Meningeal fibromas are rare intracranial tumors that mimic meningiomas radiologically as well as histologically. The authors report 2 cases of meningeal fibroma with detailed clinical, radiological, histopathological, and immunohistochemical features, and discuss the differential diagnosis of this entity. Knowledge of this rare tumor is essential for pathologists to be able distinguish it from more common meningeal tumors, especially in younger patients. This knowledge is also essential for neurosurgeons, as incomplete resection may lead to tumor recurrence, and such patients require close follow-up.

  7. Xanthogranulomatous Prostatitis, a Rare Prostatic Entity

    Directory of Open Access Journals (Sweden)

    Alejandro Noyola

    2017-01-01

    Full Text Available There are several benign prostatic pathologies that can clinically mimic a prostate adenocarcinoma. Xanthogranulomatous prostatitis is a benign inflammatory condition of the prostate and a rare entity. A 47-year old male, with 3 years of lower urinary tract symptoms, with a palpable hypogastric tumor, digital rectal examination: solid prostate, of approximately 60 g. Initial PSA was 0.90 ng/mL. He underwent surgical excision of the lower abdominal nodule and prostatectomy. Histopathology showed xanthogranulomatous prostatitis, without malignancy. Xanthogranulomatous prostatitis is an extremely rare entity that can simulate prostate adenocarcinoma, therefore having a correct histopathological diagnosis is essential.

  8. Xanthogranulomatous Prostatitis, a Rare Prostatic Entity.

    Science.gov (United States)

    Noyola, Alejandro; Gil, José Fernando; Lujano, Heriberto; Piñon, Omar; Muñoz, Gabriel; Michel, José Manuel; Garcia, Jorge; Valdez, Jorge; Morales, Omar

    2017-01-01

    There are several benign prostatic pathologies that can clinically mimic a prostate adenocarcinoma. Xanthogranulomatous prostatitis is a benign inflammatory condition of the prostate and a rare entity. A 47-year old male, with 3 years of lower urinary tract symptoms, with a palpable hypogastric tumor, digital rectal examination: solid prostate, of approximately 60 g. Initial PSA was 0.90 ng/mL. He underwent surgical excision of the lower abdominal nodule and prostatectomy. Histopathology showed xanthogranulomatous prostatitis, without malignancy. Xanthogranulomatous prostatitis is an extremely rare entity that can simulate prostate adenocarcinoma, therefore having a correct histopathological diagnosis is essential.

  9. Neurothekeoma of petrous apex: A rare entity

    Directory of Open Access Journals (Sweden)

    Zarina Abdul Assis

    2013-01-01

    Full Text Available Intraosseous nerve sheath tumors are very rare tumors accounting for lesser than 0.2% of primary bone tumors. We present an 18-year-old female who presented with left facial paresis for the last 1 year. Magnetic resonance imaging (MRI demonstrated expansile, multiseptated, enhancing bony lesion in the left petrous apex. There was also abnormal enhancement of the 7-8 th nerve complex within the internal auditory canal. Tumor was excised by subtemporal extradural approach. The lesion was diagnosed as intraosseous neurothekeoma on histopathology. This is an extremely rare tumor and its MRI appearance in this location is being described for the first time in literature.

  10. Forward flux sampling for rare event simulations.

    Science.gov (United States)

    Allen, Rosalind J; Valeriani, Chantal; Rein Ten Wolde, Pieter

    2009-11-18

    Rare events are ubiquitous in many different fields, yet they are notoriously difficult to simulate because few, if any, events are observed in a conventional simulation run. Over the past several decades, specialized simulation methods have been developed to overcome this problem. We review one recently developed class of such methods, known as forward flux sampling. Forward flux sampling uses a series of interfaces between the initial and final states to calculate rate constants and generate transition paths for rare events in equilibrium or nonequilibrium systems with stochastic dynamics. This review draws together a number of recent advances, summarizes several applications of the method and highlights challenges that remain to be overcome.

  11. Glomus tumor of penis- A rare case

    Directory of Open Access Journals (Sweden)

    Madhuri S. Kate

    2013-01-01

    Full Text Available Glomus tumors are rare, painful, and benign soft tissue tumors of the skin arising from the glomus body, an arteriovenous thermoregulatory structure. This lesion is usually found on the extremities. Glomus tumor involving the external genital organs including penis is extremely rare. Until now, only few cases have been reported in the available literature. A 22 year old male patient presented with a painful nodule over the penis. The pathologic diagnosis was glomus tumor of the glans penis. We report herewith a case of glomus tumor of penis diagnosed on histopathologic examination. Glomus tumor, being a benign neoplasm, complete extirpation of the glomus tumor is the treatment of choice.

  12. Searches for rare charm decays at LHCb

    CERN Document Server

    Mitzel, Dominik Stefan

    2017-01-01

    Rare and forbidden charm decays are unique probes for hints of physics beyond the Standard Model. The LHCb collaboration has made significant contributions to the field over the last years. This report presents results of the search for the lepton-flavour violating decay $D^0 \\to e^\\pm \\mu^\\mp$ and the first observations of the rare four body decays $D^0 \\to K^- \\pi^+ \\mu^+ \\mu^-, D^0 \\to \\pi^+ \\pi^- \\mu^+ \\mu^-$ ans $D^0 \\to K^+ K^- \\mu^+ \\mu^-$.

  13. Praemaligne lidelser og cancer i mundslimhinden

    DEFF Research Database (Denmark)

    Reibel, Jesper; Holmstrup, Palle

    2010-01-01

    . There is no evidence that surgical intervention reduces the risk of malignant transformation. Oral cancer is relatively rare, however, easily detectable and preventable; tobacco and alcohol are by far the most important aetiologic factors. Increasing trends in rates of intraoral cancer are seen in many countries....

  14. Non-small-cell lung cancer: unusual presentation in the gluteal muscle.

    LENUS (Irish Health Repository)

    Al-Alao, Bassel Suffian

    2011-05-01

    Lung cancer is one of the most commonly diagnosed cancers in both men and women worldwide. It is also one of the most common forms of cancer in Ireland, accounting for about 20% of all deaths from cancer each year. Early detection of lung cancer is infrequent, and most cases are not diagnosed and treated until they are at an advanced stage. Distant metastases in lung cancer commonly involve the adrenal glands, liver, bones, and central nervous system; they are only rarely seen in the skeletal system. We report a rare case of metastasis to the gluteal muscle as the initial presentation of lung cancer.

  15. Gall bladder carcinoma with ampullary carcinoma: A rare case of double malignancy

    Directory of Open Access Journals (Sweden)

    Praveer Rai

    2013-01-01

    Full Text Available Simultaneous double cancers in the biliary system are rare. Most are associated with pancreaticobiliary maljunction (PBM. However, it can occur in patients without PBM. Differentiation between these events is important since these two mechanistic origins imply different stages of disease, as well as different subsequent treatments and prognoses. Herein, we report a case of ampullary carcinoma associated with gall bladder carcinoma diagnosed nonoperatively and palliated with biliary metal stenting.

  16. 6 Common Cancers - Skin Cancer

    Science.gov (United States)

    ... Navigation Bar Home Current Issue Past Issues 6 Common Cancers - Skin Cancer Past Issues / Spring 2007 Table ... Gilbert Skin Cancer Skin cancer is the most common form of cancer in the United States. The ...

  17. Replacing the Rare Earth Intellectual Capital

    Energy Technology Data Exchange (ETDEWEB)

    Gschneidner, Jr., Karl

    2011-04-01

    The rare earth crisis slowly evolved during a 10 to 15 year period beginning in the mid-1980s, when the Chinese began to export mixed rare earth concentrates. In the early 1990s, they started to move up the supply chain and began to export the individual rare earth oxides and metals. By the late 1990s the Chinese exported higher value products, such as magnets, phosphors, polishing compounds, catalysts; and in the 21st century they supplied finished products including electric motors, computers, batteries, liquid-crystal displays (LCDs), TVs and monitors, mobile phones, iPods and compact fluorescent lamp (CFL) light bulbs. As they moved to higher value products, the Chinese slowly drove the various industrial producers and commercial enterprises in the US, Europe and Japan out of business by manipulating the rare earth commodity prices. Because of this, the technically trained rare earth engineers and scientists who worked in areas from mining to separations, to processing to production, to manufacturing of semifinished and final products, were laid-off and moved to other fields or they retired. However, in the past year the Chinese have changed their philosophy of the 1970s and 1980s of forming a rare earth cartel to control the rare earth markets to one in which they will no longer supply the rest of the world (ROW) with their precious rare earths, but instead will use them internally to meet the growing demand as the Chinese standard of living increases. To this end, they have implemented and occasionally increased export restrictions and added an export tariff on many of the high demand rare earth elements. Now the ROW is quickly trying to start up rare earth mines, e.g. Molycorp Minerals in the US and Lynas Corp. in Australia, to cover this shortfall in the worldwide market, but it will take about five years for the supply to meet the demand, even as other mines in the ROW become productive. Unfortunately, today there is a serious lack of technically trained

  18. Pancreatic groove cancer

    Science.gov (United States)

    Ku, Yuan-Hao; Chen, Shih-Chin; Shyr, Bor-Uei; Lee, Rheun-Chuan; Shyr, Yi-Ming; Wang, Shin-E.

    2017-01-01

    Abstract Pancreatic groove cancer is very rare and can be indistinguishable from groove pancreatitis. This study is to clarify the characteristics, clinical features, managements, and survival outcomes of this rare tumor. Brief descriptions were made for each case of pancreatic groove cancer encountered at our institute. Individualized data of pancreatic groove cancer cases described in the literature were extracted and added to our database to expand the study sample size for a more complete analysis. A total of 33 patients with pancreatic groove cancer were included for analysis, including 4 cases from our institute. The median tumor size was 2.7 cm. The most common symptom was nausea or vomiting (89%), followed by jaundice (67%). Duodenal stenosis was noted by endoscopy in 96% of patients. The histopathological examination revealed well differentiated tumor in 43%. Perineural invasion was noted in 90%, and lymphovascular invasion and lymph node involvement in 83%. Overall 1-year survival rate was 93.3%, and 3- or 5-year survival rate was 62.2%, with a median survival of 11.0 months. Survival outcome for the well-differentiated tumors was better than those of the moderate/poorly differentiated ones. Early involvement of duodenum causing vomiting is often the initial presentation, but obstructive jaundice does not always happen until the disease progresses. Tumor differentiation is a prognostic factor for survival outcome. The possibility of pancreatic groove cancer should be carefully excluded before making the diagnosis of groove pancreatitis for any questionable case. PMID:28079795

  19. Quality of life and symptoms in patients with malignant diseases admitted to a comprehensive cancer centre

    DEFF Research Database (Denmark)

    Strömgren, Annette Sand; Niemann, Carsten Utoft; Tange, Ulla Brix;

    2014-01-01

    Quality of life and symptomatology in patients with malignancies admitted to comprehensive cancer centres are rarely investigated. Thus, this study aimed to investigate symptomatology and health-related quality of life of inpatients with cancer.......Quality of life and symptomatology in patients with malignancies admitted to comprehensive cancer centres are rarely investigated. Thus, this study aimed to investigate symptomatology and health-related quality of life of inpatients with cancer....

  20. Fetus in fetu: A very rare anomaly

    Directory of Open Access Journals (Sweden)

    Sanjay Choudhuri

    2014-11-01

    Full Text Available “Fetus in fetu” is a condition seen rarely in the literature, less than 200 cases reported till now. It is a calcified mass or an encapsulated pendunculated tumor thought to be due to unequal division of totipotent cells of a blastocyst, resulting in a small cellular mass in a more mature embryo thus forming a monozygotic, diamniotic twin pregnancy.