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Sample records for preventing sporadic neoplasia

  1. Comparative analysis of copy number variations in ulcerative colitis associated and sporadic colorectal neoplasia

    International Nuclear Information System (INIS)

    Shivakumar, B. M.; Chakrabarty, Sanjiban; Rotti, Harish; Seenappa, Venu; Rao, Lakshmi; Geetha, Vasudevan; Tantry, B. V.; Kini, Hema; Dharamsi, Rajesh; Pai, C. Ganesh; Satyamoorthy, Kapaettu

    2016-01-01

    The incidence of and mortality from colorectal cancers (CRC) can be reduced by early detection. Currently there is a lack of established markers to detect early neoplastic changes. We aimed to identify the copy number variations (CNVs) and the associated genes which could be potential markers for the detection of neoplasia in both ulcerative colitis-associated neoplasia (UC-CRN) and sporadic colorectal neoplasia (S-CRN). We employed array comparative genome hybridization (aCGH) to identify CNVs in tissue samples of UC nonprogressor, progressor and sporadic CRC. Select genes within these CNV regions as a panel of markers were validated using quantitative real time PCR (qRT-PCR) method along with the microsatellite instability (MSI) in an independent cohort of samples. Immunohistochemistry (IHC) analysis was also performed. Integrated analysis showed 10 overlapping CNV regions between UC-Progressor and S-CRN, with the 8q and 12p regions showing greater overlap. The qRT-PCR based panel of MYC, MYCN, CCND1, CCND2, EGFR and FNDC3A was successful in detecting neoplasia with an overall accuracy of 54 % in S-CRN compared to that of 29 % in UC neoplastic samples. IHC study showed that p53 and CCND1 were significantly overexpressed with an increasing frequency from pre-neoplastic to neoplastic stages. EGFR and AMACR were expressed only in the neoplastic conditions. CNVs that are common and unique to both UC-associated and sporadic colorectal neoplasm could be the key players driving carcinogenesis. Comparative analysis of CNVs provides testable driver aberrations but needs further evaluation in larger cohorts of samples. These markers may help in developing more effective neoplasia-detection strategies during screening and surveillance programs. The online version of this article (doi:10.1186/s12885-016-2303-4) contains supplementary material, which is available to authorized users

  2. No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia

    DEFF Research Database (Denmark)

    Raitila, A; Georgitsi, M; Karhu, A

    2007-01-01

    . Here, we have analyzed 32 pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP mutations by direct sequencing. No somatic mutations were identified. However, two out of nine patients with prolactin-producing adenoma were shown to harbor a Finnish founder mutation (Q14X...... as non-secreting pituitary adenomas have been reported, most mutation-positive patients have had growth hormone-producing adenomas diagnosed at relatively young age. Pituitary adenomas are also component tumors of some familial endocrine neoplasia syndromes such as multiple endocrine neoplasia type 1...... (MEN1) and Carney complex (CNC). Genes underlying MEN1 and CNC are rarely mutated in sporadic pituitary adenomas, but more often in other lesions contributing to these two syndromes. Thus far, the occurrence of somatic AIP mutations has not been studied in endocrine tumors other than pituitary adenomas...

  3. Novel multiple endocrine neoplasia type 1 variations in patients with sporadic primary hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    S Birla

    2016-01-01

    Full Text Available Background and Objectives: Primary hyperparathyroidism (PHPT can occur either as a sporadic case or in association with syndromes such as multiple endocrine neoplasia. Multiple endocrine neoplasia type 1 (MEN1 is a rare autosomal-dominant disease resulting from mutations in MEN1 gene encoding a 621 amino acid long tumor suppressor protein “menin.” We report here the results of MEN1 screening in 31 patients diagnosed with sporadic PHPT. Materials and Methods: Diagnosis of sporadic PHPT was made when blood urea and serum creatinine were normal, serum parathyroid hormone was high, and parathyroid enlargement could be localized on ultrasound and/or parathyroid scan. A total of 31 patients and 50 healthy volunteers were recruited for molecular analysis after taking informed consent. Results: Major symptoms at presentation were bone pain, fatigue, muscle weakness, and renal stones. Molecular genetic analysis revealed the presence of two novel intronic variations, c. 913-79T>A and c. 784-129T>A which by human splicing finder are predicted to cause potential alteration of splicing by either activating an intronic cryptic acceptor site or converting a conserved exonic splicing silencer sequence to an exonic splicing enhancer site. Apart from these, two reported polymorphisms rs144677807 and rs669976 were seen only in patients and none of the controls. Other reported polymorphisms rs2071313 and rs654440 were identified both in controls and patients. Conclusions: This is the first study of MEN1 gene screening in sporadic PHPT in India reporting on the clinical and genetic findings, wherein two novel intronic variations c. 913-79T>A and c. 784-129T>A were identified showing their possible role in disease causation.

  4. The RET protooncogene in sporadic pheochromocytomas: Frequent multiple endocrine neoplasias type 2 - like mutations and new molecular defects

    Energy Technology Data Exchange (ETDEWEB)

    Beldjord, C.; Desclaux-Arramond, F.; Raffin-Sanson, M. [Universitat Rene Descartes, Paris (France)] [and others

    1994-09-01

    To assess the pathophysiological role of the RET protooncogene in sporadic pheochromocytomas, we examined the two regions of the gene in which molecular defects are specifically associated with the Multiple Endocrine Neoplasias (MEN) type 2A (exons 8-11) and type 2B (exon 16). The sequences of both regions were amplified by RT-PCR or PCR from tumor RNA and/or constitutive DNA. The amplified products were analyzed by denaturing gradient gel electrophoresis using chemical clamps. In 28 patients with unilateral sporadic tumors six RET mutations were found: three in the MEN2A region, and three in the MEN2B region. Five patients had missense mutations: two in the MEN2A region (C634W and D631Y), and three in the MEN2B region (M918T). Analysis of leukocyte DNA in three of these patients confirmed that RET mutations were only present in tumor DNA. The sixth patient had lost exon 10 in the tumor cDNA due to the deletion of the dinucleotide AG at the 3{prime} splice acceptor site of intron 9; this molecular defect was only found in the tumor DNA. Thus RET mutations of the MEN 2A and MEN 2B regions are also found in ca. 20% of sporadic pheochromocytomas. We describe new types of molecular defects of the RET protooncogene in the MEN2A region which involve non-cysteine residues and the loss of exon 10. Further studies should be extended to analyze the entire RET gene. These findings have a profound clinical impact for the management of patients with supposedly sporadic pheochromocytomas.

  5. Surgical Therapy of Sporadic Pancreatic Neuroendocrine Neoplasias G1/G2.

    Science.gov (United States)

    Fendrich, Volker; Bartsch, Detlef K

    2017-10-01

    Pancreatic neuroendocrine neoplasias (pNENs) are uncommon but fascinating tumors with an annual incidence of 1 per 100,000 people. pNENs present either as functional tumors, causing specific hormonal syndromes like Zollinger-Ellison syndrome (ZES) or organic hyperinsulinism, or as non-functional pancreatic tumors (NF-pNENs). The natural history of pNENs is highly variable. 90% of all insulinomas or small NF- pNENs are readily curable by surgical resection. Most other functional and late detected NF-pNENs have a less favorable chance for cure. A systematic review of the literature was performed to identify the current state of the art with regard to the key issues of surgery in pNEN G1/G2. This article provides a comprehensive review of the current literature addressing the current challenges in pNEN surgery. Patients with completely resected tumors generally have a good prognosis, and an aggressive surgical approach combined with conservative treatment options in patients with advanced disease rarely provides cure but often results in long-term survival.

  6. Condom use in prevention of Human Papillomavirus infections and cervical neoplasia

    DEFF Research Database (Denmark)

    Lam, Janni Uyen Hoa; Rebolj, Matejka; Dugué, Pierre-Antoine

    2014-01-01

    Based on cross-sectional studies, the data on protection from Human Papillomavirus (HPV) infections related to using male condoms appear inconsistent. Longitudinal studies are more informative for this purpose. We undertook a systematic review of longitudinal studies on the effectiveness of male ...... condoms in preventing HPV infection and cervical neoplasia....

  7. Brazilian research about prevention of cervical neoplasia: an integrative review

    Directory of Open Access Journals (Sweden)

    Jaqueline Apolônio de Freitas Guimarães

    2012-04-01

    Full Text Available This is an integrative review that aimed to synthesize the scientific knowledge published in national nursing journals about the prevention of cervical cancer. It was made a literature review in May 2009 in BIREME, covering the national nursing publications, from 1999 to 2009. We identified 15 articles that comprised the study sample. Of these, 11 addressed the nursing care, 6 were about prevention of cancer and 5 were about risk factors for such disease. In 4 articles the studies were accomplished in the Family Health Care Unit (UBASF which was the most prevalent place. It was found out that 6 of the articles used the qualitative method. The most studied population was formed by users of the Family Health Care Unit, in 3 studies. It was so concluded that the national research about this topic was related to the problems identified in health places, either in the effectiveness of the examination, in the knowledge of users or in conducted health education.

  8. Human papillomavirus vaccination in the prevention of cervical neoplasia.

    LENUS (Irish Health Repository)

    Astbury, Katharine

    2012-02-01

    Cervical cancer remains a major cause of morbidity and mortality for women worldwide. Although the introduction of comprehensive screening programs has reduced the disease incidence in developed countries, it remains a major problem in the developing world. The recent licensing of 2 vaccines against human papillomavirus (HPV) type 16 and HPV-18, the viruses responsible for 70% of cervical cancer cases, offers the hope of disease prevention. In this article, we review the role of HPV in the etiology of cervical cancer and the evidence to support the introduction of vaccination programs in young women and discuss the potential obstacles to widespread vaccination. In addition, we discuss the issues that remain to be elucidated, including the potential need for booster doses of the vaccine and the role of concomitant vaccination in men.

  9. Sporadic colorectal cancer: microbial contributors to disease prevention, development and therapy.

    Science.gov (United States)

    Drewes, Julia L; Housseau, Franck; Sears, Cynthia L

    2016-07-26

    The gut microbiota has been hailed as an accessory organ, with functions critical to the host including dietary metabolic activities and assistance in the development of a proper functioning immune system. However, an aberrant microbiota (dysbiosis) may influence disease processes such as colorectal cancer. In this review, we discuss recent advances in our understanding of the contributions of the microbiota to prevention, initiation/progression, and treatment of colorectal cancer, with a major focus on biofilms and the antimicrobial and antitumoural immune response.

  10. Animal models of pituitary neoplasia

    OpenAIRE

    Lines, K.E.; Stevenson, M.; Thakker, R.V.

    2016-01-01

    Pituitary neoplasias can occur as part of a complex inherited disorder, or more commonly as sporadic (non-familial) disease. Studies of the molecular and genetic mechanisms causing such pituitary tumours have identified dysregulation of >35 genes, with many revealed by studies in mice, rats and zebrafish. Strategies used to generate these animal models have included gene knockout, gene knockin and transgenic over-expression, as well as chemical mutagenesis and drug induction. These animal mod...

  11. Animal models of pituitary neoplasia

    Science.gov (United States)

    Lines, K.E.; Stevenson, M.; Thakker, R.V.

    2016-01-01

    Pituitary neoplasias can occur as part of a complex inherited disorder, or more commonly as sporadic (non-familial) disease. Studies of the molecular and genetic mechanisms causing such pituitary tumours have identified dysregulation of >35 genes, with many revealed by studies in mice, rats and zebrafish. Strategies used to generate these animal models have included gene knockout, gene knockin and transgenic over-expression, as well as chemical mutagenesis and drug induction. These animal models provide an important resource for investigation of tissue-specific tumourigenic mechanisms, and evaluations of novel therapies, illustrated by studies into multiple endocrine neoplasia type 1 (MEN1), a hereditary syndrome in which ∼30% of patients develop pituitary adenomas. This review describes animal models of pituitary neoplasia that have been generated, together with some recent advances in gene editing technologies, and an illustration of the use of the Men1 mouse as a pre clinical model for evaluating novel therapies. PMID:26320859

  12. Prevention of colonic neoplasia with polyethylene glycol: A short term randomized placebo-controlled double-blinded trial.

    Science.gov (United States)

    Wali, Ramesh K; Bianchi, Laura; Kupfer, Sonia; De La Cruz, Mart; Jovanovic, Borko; Weber, Christopher; Goldberg, Michael J; Rodriguez, L M; Bergan, Raymond; Rubin, David; Tull, Mary Beth; Richmond, Ellen; Parker, Beth; Khan, Seema; Roy, Hemant K

    2018-01-01

    Chemoprevention represents an attractive modality against colorectal cancer (CRC) although widespread clinical implementation of promising agents (e.g. aspirin/NSAIDS) have been stymied by both suboptimal efficacy and concerns over toxicity. This highlights the need for better agents. Several groups, including our own, have reported that the over-the-counter laxative polyethylene glycol (PEG) has remarkable efficacy in rodent models of colon carcinogenesis. In this study, we undertook the first randomized human trial to address the role of PEG in prevention of human colonic neoplasia. This was a double-blind, placebo-controlled, three-arm trial where eligible subjects were randomized to 8g PEG-3350 (n = 27) or 17g PEG-3350 (n = 24), or placebo (n = 24; maltodextrin) orally for a duration of six months. Our initial primary endpoint was rectal aberrant crypt foci (ACF) but this was changed during protocol period to rectal mucosal epidermal growth factor receptor (EGFR). Of the 87 patients randomized, 48 completed study primary endpoints and rectal EGFR unchanged PEG treatment. Rectal ACF had a trend suggesting potentially reduction with PEG treatment (pre-post change 1.7 in placebo versus -0.3 in PEG 8+ 17g doses, p = 0.108). Other endpoints (proliferation, apoptosis, expression of SNAIL and E-cadherin), previously noted to be modulated in rodent models, appeared unchanged with PEG treatment in this clinical trial. We conclude that PEG was generally well tolerated with the trial failing to meet primary efficacy endpoints. However, rectal ACFs demonstrated a trend (albeit statistically insignificant) for suppression with PEG. Moreover, all molecular assays including EGFR were unaltered with PEG underscoring issues with lack of translatability of biomarkers from preclinical to clinical trials. This data may provide the impetus for future clinical trials on PEG using more robust biomarkers of chemoprevention. ClinicalTrials.gov NCT00828984.

  13. Surgical approach in patients with hyperparathyroidism in multiple endocrine neoplasia type 1: total versus partial parathyroidectomy

    Directory of Open Access Journals (Sweden)

    Francesco Tonelli

    2012-01-01

    Full Text Available Usually, primary hyperparathyroidism is the first endocrinopathy to be diagnosed in patients with multiple endocrine neoplasia type 1, and is also the most common one. The timing of the surgery and strategy in multiple endocrine neoplasia type 1/hyperparathyroidism are still under debate. The aims of surgery are to: 1 correct hypercalcemia, thus preventing persistent or recurrent hyperparathyroidism; 2 avoid persistent hypoparathyroidism; and 3 facilitate the surgical treatment of possible recurrences. Currently, two types of surgical approach are indicated: 1 subtotal parathyroidectomy with removal of at least 3-3 K glands; and 2 total parathyroidectomy with grafting of autologous parathyroid tissue. Transcervical thymectomy must be performed with both of these procedures. Unsuccessful surgical treatment of hyperparathyroidism is more frequently observed in multiple endocrine neoplasia type 1 than in sporadic hyperparathyroidism. The recurrence rate is strongly influenced by: 1 the lack of a pre-operative multiple endocrine neoplasia type 1 diagnosis; 2 the surgeon's experience; 3 the timing of surgery; 4 the possibility of performing intra-operative confirmation (histologic examination, rapid parathyroid hormone assay of the curative potential of the surgical procedure; and, 5 the surgical strategy. Persistent hyperparathyroidism seems to be more frequent after subtotal parathyroidectomy than after total parathyroidectomy with autologous graft of parathyroid tissue. Conversely, recurrent hyperparathyroidism has a similar frequency in the two surgical strategies. To plan further operations, it is very helpful to know all the available data about previous surgery and to undertake accurate identification of the site of recurrence.

  14. Non-steroidal anti-inflammatory agents to induce regression and prevent the progression of cervical intraepithelial neoplasia.

    Science.gov (United States)

    Grabosch, Shannon M; Shariff, Osman M; Helm, C William

    2018-02-12

    This is an updated version of the original Cochrane review published in 2014, Issue 4. Cervical intraepithelial neoplasia (CIN) precedes the development of invasive carcinoma of the cervix. Current treatment of CIN is quite effective, but there is morbidity for the patient related to pain, bleeding, infection, cervical stenosis and premature birth in a subsequent pregnancy. Effective treatment with medications, rather than surgery, would be beneficial. To evaluate the effectiveness and safety of non-steroidal anti-inflammatory agents (NSAIDs), including cyclooxygenase-2 (COX-2) inhibitors, to induce regression and prevent the progression of CIN. Previously, we searched the Cochrane Gynaecological Cancer Group Trials Register, the Cochrane Central Register of Controlled Trials (CENTRAL) (2013, Issue 11), MEDLINE (November, 2013) and Embase (November week 48, 2013). An updated search was performed in August 2017 for CENTRAL (2017, Issue 8), MEDLINE (July, week 3, 2017) and Embase (July week 31, 2017). Trial registries and journals were also searched as part of the update. Randomised controlled trials (RCTs) or controlled trials of NSAIDs in the treatment of CIN. Three review authors independently abstracted data and assessed risks of bias in accordance with Cochrane methodology. Outcome data were pooled using fixed-effect meta-analyses. In three RCTs, 171 women over the age of 18 years were randomised to receive celecoxib 400 mg daily for 14 to 18 weeks versus placebo (one study, 130 participants), celecoxib 200 mg twice daily by mouth for six months versus placebo (one study, 25 participants), or rofecoxib 25 mg once daily by mouth for three months versus placebo (one study, 16 participants). The study with rofecoxib was discontinued when the medicine was withdrawn from the market in 2004. The trials ran from June 2005 to April 2012, June 2002 to October 2003, and May to October 2004, respectively. We have chosen to include the data from the rofecoxib study as

  15. Multiple Endocrine Neoplasia Syndromes

    Science.gov (United States)

    ... switch to the Professional version Home Hormonal and Metabolic Disorders Multiple Endocrine Neoplasia Syndromes Multiple Endocrine Neoplasia Syndromes Types Type 1 disease Type 2A disease Type 2B disease Diagnosis Treatment Resources In This Article Drugs Mentioned In This ...

  16. Is vaccination with quadrivalent HPV vaccine after loop electrosurgical excision procedure effective in preventing recurrence in patients with high-grade cervical intraepithelial neoplasia (CIN2-3)?

    Science.gov (United States)

    Kang, Woo Dae; Choi, Ho Sun; Kim, Seok Mo

    2013-08-01

    This study was conducted to determine whether vaccination with the quadrivalent human papillomavirus (HPV) vaccine after loop electrosurgical excision procedure (LEEP) for high-grade cervical intraepithelial neoplasia (CIN2-3) is effective in preventing recurrence of CIN2-3. Between August 2007 and July 2010, 737 patients aged 20-45 years who were diagnosed with CIN2-3 were treated by LEEP and followed. Three hundred and sixty patients were vaccinated with the quadrivalent HPV vaccine after LEEP (vaccination group), and 377 patients were followed without vaccination (non-vaccination group). The vaccination group received the first dose at 1 week after LEEP and the remaining two doses two and six months later. Post-LEEP follow-up was performed at 3, 6, 9, 12, 18, and 24 months during the first 2 years and yearly thereafter. Irrespective of causal HPV type, 36 (4.9%) patients developed recurrence. In the vaccination group (360 patients), 9 patients (2.5%) developed recurrence, whereas 27 patients (7.2%) in the non-vaccination group (377 patients) developed recurrence. In patients infected with HPV of 16 and/or 18 type, 5 patients (2.5%) in the vaccination group (197 patients) and 18 patients (8.5%) in the non-vaccination group (211 patients) developed recurrent disease related to vaccine HPV types (HPV 16 or 18 types) after LEEP (Pvaccination after LEEP was an independent risk factor for recurrent CIN2-3 (HR=2.840; 95% confidence interval, 1.335-6.042; PVaccination with the quadrivalent HPV vaccine after treatment may be considered in preventing recurrence of CIN2-3. Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

  17. Delayed bleeding after endoscopic submucosal dissection for non-ampullary superficial duodenal neoplasias might be prevented by prophylactic endoscopic closure: analysis of risk factors.

    Science.gov (United States)

    Hoteya, Shu; Kaise, Mitsuru; Iizuka, Toshiro; Ogawa, Osamu; Mitani, Toshifumi; Matsui, Akira; Kikuchi, Daisuke; Furuhata, Tsukasa; Yamashita, Satoshi; Yamada, Akihiro; Kimura, Ryusuke; Nomura, Kousuke; Kuribayashi, Yasutaka; Miyata, Yoshifumi; Yahagi, Naohisa

    2015-03-01

    Duodenal endoscopic submucosal dissection (ESD) is technically challenging because of anatomical specificities and, to date, has not been validated concerning the high rate of complications such as perforation and delayed bleeding. In the present study, the risk factors for delayed bleeding after duodenal ESD are presented with the goal of establishing preventive measures. We analyzed 63 patients with non-ampullary superficial duodenal neoplasias treated by ESD from April 2005 to March 2014. To analyze the risk factors of delayed bleeding after duodenal ESD, we divided the patients into a delayed bleeding group and a non-bleeding group. To verify the risk factors of delayed bleeding after duodenal ESD, we analyzed various patient-, lesion-, and treatment-related factors. Delayed bleeding was experienced in 11 patients (17.5%) Univariate analysis of patient-related risk factors of delayed bleeding indicated no significant risk factor. Univariate analysis of lesion-related and treatment-related risk factors indicated only endoscopic closure as a significant risk factor. Multivariate analysis also identified endoscopic closure (not done > done: P = 0.049) as an independent factor significantly associated with delayed bleeding after duodenal ESD. Hypertension (present > absent: P = 0.055) showed a non-significant tendency of association by multivariate analysis. This retrospective evaluation found that endoscopic closure was associated with a reduced risk of delayed bleeding after duodenal ESD. Delayed bleeding after duodenal ESD might be prevented by prophylactic endoscopic closure. © 2014 The Authors. Digestive Endoscopy © 2014 Japan Gastroenterological Endoscopy Society.

  18. MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.

    Science.gov (United States)

    Arnold, Andrew

    2016-01-01

    Primary hyperparathyroidism is primarily due to a solitary parathyroid adenoma but multi-gland disease, parathyroid carcinoma, and ectopic parathyroid hormone production can occur. Although primary hyperparathyroidism mostly presents sporadically, strong familial predispositions also exist. Much is known about heritable genetic mutations responsible for these syndromes, including multiple endocrine neoplasia types 1 and 2A, hyperparathyroidism-jaw tumor syndrome, and familial hypocalciuric hypercalcemia. Acquired mutations in common sporadic hyperparathyroidism have also been discovered. Here we focus on the most common and well-established genetic drivers: 1) involvement of the oncogene cyclin D1 in human neoplasia was first established in parathyroid adenomas, followed by recognition of its importance in other tumor types including breast cancer and B-lymphoid malignancy; and 2) somatic mutation of the MEN1 gene, first identified as the source of pathogenic germline mutations in patients with familial endocrinopathies, is found in a substantial fraction of non-familial parathyroid adenomas.

  19. Introduction to Sporadic Groups

    Directory of Open Access Journals (Sweden)

    Luis J. Boya

    2011-01-01

    Full Text Available This is an introduction to finite simple groups, in particular sporadic groups, intended for physicists. After a short review of group theory, we enumerate the 1+1+16=18 families of finite simple groups, as an introduction to the sporadic groups. These are described next, in three levels of increasing complexity, plus the six isolated ''pariah'' groups. The (old five Mathieu groups make up the first, smallest order level. The seven groups related to the Leech lattice, including the three Conway groups, constitute the second level. The third and highest level contains the Monster group M, plus seven other related groups. Next a brief mention is made of the remaining six pariah groups, thus completing the 5+7+8+6=26 sporadic groups. The review ends up with a brief discussion of a few of physical applications of finite groups in physics, including a couple of recent examples which use sporadic groups.

  20. Surgical treatment of pancreatic endocrine tumors in multiple endocrine neoplasia type 1

    Directory of Open Access Journals (Sweden)

    Marcel Cerqueira Cesar Machado

    Full Text Available Surgical approaches to pancreatic endocrine tumors associated with multiple endocrine neoplasia type 1 may differ greatly from those applied to sporadic pancreatic endocrine tumors. Presurgical diagnosis of multiple endocrine neoplasia type 1 is therefore crucial to plan a proper intervention. Of note, hyperparathyroidism/multiple endocrine neoplasia type 1 should be surgically treated before pancreatic endocrine tumors/multiple endocrine neoplasia type 1 resection, apart from insulinoma. Non-functioning pancreatic endocrine tumors/multiple endocrine neoplasia type 1 >1 cm have a high risk of malignancy and should be treated by a pancreatic resection associated with lymphadenectomy. The vast majority of patients with gastrinoma/multiple endocrine neoplasia type 1 present with tumor lesions at the duodenum, so the surgery of choice is subtotal or total pancreatoduodenectomy followed by regional lymphadenectomy. The usual surgical treatment for insulinoma/multiple endocrine neoplasia type 1 is distal pancreatectomy up to the mesenteric vein with or without spleen preservation, associated with enucleation of tumor lesions in the pancreatic head. Surgical procedures for glucagonomas, somatostatinomas, and vipomas/ multiple endocrine neoplasia type 1 are similar to those applied to sporadic pancreatic endocrine tumors. Some of these surgical strategies for pancreatic endocrine tumors/multiple endocrine neoplasia type 1 still remain controversial as to their proper extension and timing. Furthermore, surgical resection of single hepatic metastasis secondary to pancreatic endocrine tumors/multiple endocrine neoplasia type 1 may be curative and even in multiple liver metastases surgical resection is possible. Hepatic trans-arterial chemo-embolization is usually associated with surgical resection. Liver transplantation may be needed for select cases. Finally, pre-surgical clinical and genetic diagnosis of multiple endocrine neoplasia type 1 syndrome and

  1. Multiple endocrine neoplasia type 1

    Directory of Open Access Journals (Sweden)

    Luzi Ettore

    2006-10-01

    Full Text Available Abstract Multiple Endocrine Neoplasia type 1 (MEN1 is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. It occurs in approximately one in 30,000 individuals. Two different forms, sporadic and familial, have been described. The sporadic form presents with two of the three principal MEN1-related endocrine tumours (parathyroid adenomas, entero-pancreatic tumours and pituitary tumours within a single patient, while the familial form consists of a MEN1 case with at least one first degree relative showing one of the endocrine characterising tumours. Other endocrine and non-endocrine lesions, such as adrenal cortical tumours, carcinoids of the bronchi, gastrointestinal tract and thymus, lipomas, angiofibromas, collagenomas have been described. The responsible gene, MEN1, maps on chromosome 11q13 and encodes a 610 aminoacid nuclear protein, menin, with no sequence homology to other known human proteins. MEN1 syndrome is caused by inactivating mutations of the MEN1 tumour suppressor gene. This gene is probably involved in the regulation of several cell functions such as DNA replication and repair and transcriptional machinery. The combination of clinical and genetic investigations, together with the improving of molecular genetics knowledge of the syndrome, helps in the clinical management of patients. Treatment consists of surgery and/or drug therapy, often in association with radiotherapy or chemotherapy. Currently, DNA testing allows the early identification of germline mutations in asymptomatic gene carriers, to whom routine surveillance (regular biochemical and/or radiological screenings to detect the development of MEN1-associated tumours and lesions is recommended.

  2. NEOPLASIA IN SNAKES AT ZOO ATLANTA DURING 1992-2012.

    Science.gov (United States)

    Page-Karjian, Annie; Hahne, Megan; Leach, Kate; Murphy, Hayley; Lock, Brad; Rivera, Samuel

    2017-06-01

    A retrospective study was conducted to review neoplasia of captive snakes in the Zoo Atlanta collection from 1992 to 2012. Of 255 snakes that underwent necropsy and histopathologic examination at Zoo Atlanta during the study period, 37 were observed with neoplasia at necropsy. In those 37 snakes, 42 neoplastic lesions of 18 primary cell types were diagnosed. Thirty-five of those neoplasms (83.3%) were malignant, and of those, 19 were of mesenchymal origin, whereas 14 were of epithelial origin. The median annual rate of neoplasia at necropsy was 12.5% (interquartile range = 2.8-19.5%) over the 21-yr study period. The mean estimated age at death for snakes with neoplasia was 13.2 yr (range, 1-24 yr). Investigating the incidence and clinical significance of neoplasia in captive snakes is vital for developing effective preventative and treatment regimes.

  3. Multiple endocrine neoplasia (MEN) II

    Science.gov (United States)

    ... medlineplus.gov/ency/article/000399.htm Multiple endocrine neoplasia (MEN) II To use the sharing features on this page, please enable JavaScript. Multiple endocrine neoplasia, type II (MEN II) is a disorder passed ...

  4. Optical biopsies by confocal endomicroscopy prevent additive endoscopic biopsies before endoscopic submucosal dissection in gastric epithelial neoplasias: a prospective, comparative study.

    Science.gov (United States)

    Jeon, Seong Ran; Cho, Won Young; Jin, So Young; Cheon, Young Koog; Choi, Seok Reyol; Cho, Joo Young

    2011-10-01

    Confocal laser endomicroscopy (CLE) allows real-time in vivo histologic evaluation of GI lesions. To our knowledge, there is no reported prospective study comparing endoscopic and optical biopsy using CLE before endoscopic submucosal dissection (ESD) with post-ESD histopathology. We compared endoscopic and optical biopsy before ESD and thereby assessed the ability of CLE to effectively diagnose and differentiate gastric epithelial neoplasia. Single tertiary-care center, prospective comparative study. Soonchunhyang University Hospital, between September 2009 and April 2010. This study involved 31 patients with 35 gastric epithelial neoplasias, previously diagnosed by endoscopic biopsy, who were scheduled for ESD. Target lesions were imaged in vivo by using CLE. The overall accuracy of endoscopic and CLE diagnosis was compared with post-ESD histopathology. In histopathology after ESD, 11 of 35 lesions (31.5%) were adenomas and 24 (68.5%) were adenocarcinomas. The overall accuracy of CLE diagnosis of gastric adenomas and adenocarcinomas was significantly higher at 94.2% (95% confidence interval [CI], 81.3-98.4), versus 85.7% (95% CI, 70.6-93.7) for endoscopic biopsy (P = .031). The overall accuracy of CLE diagnosis of differentiated and undifferentiated adenocarcinomas also was higher (95.4%; 95% CI, 78.2-99.1) than that of endoscopic biopsy (84.2%; 95% CI, 62.4-94.4) but did not differ significantly (P = .146). Single tertiary-care center experience and small patient number. This study demonstrates the high accuracy of diagnosis of gastric epithelial neoplasia by using CLE. The use of CLE could possibly thus reduce the number of unnecessary biopsies and mistaken diagnoses before ESD. Copyright © 2011 American Society for Gastrointestinal Endoscopy. Published by Mosby, Inc. All rights reserved.

  5. Detection of colorectal neoplasia

    DEFF Research Database (Denmark)

    Wilhelmsen, Michael; Christensen, Ib J.; Rasmussen, Louise

    2017-01-01

    Serological biomarkers may be an option for early detection of colorectal cancer (CRC). The present study assessed eight cancer-associated protein biomarkers in plasma from subjects undergoing first time ever colonoscopy due to symptoms attributable to colorectal neoplasia. Plasma AFP, CA19-9, CEA...

  6. Rapid development of thymic neuroendocrine carcinoma despite transcervical thymectomy in a patient with multiple endocrine neoplasia type 1

    Directory of Open Access Journals (Sweden)

    Dhalapathy Sadacharan

    2013-01-01

    Full Text Available Thymic neuroendocrine (NE tumors are a rare manifestation of multiple endocrine neoplasia syndrome type 1 (MEN-1. They are malignant and aggressive tumors and form a major cause of mortality in MEN-1. Transcervical thymectomy (TCT at the time of parathyroid surgery for primary hyperparathyroidism (PHPT in MEN-1 usually prevents thymic NE tumors. We report a 56-year-old nonsmoker male with sporadic MEN-1 who presented with thymic NE carcinoma developing rapidly within a span of 8 months after subtotal parathyroidectomy and TCT for PHPT. We present a brief review of literature on this rare NE malignancy, focusing on its occurrence despite TCT. This case highlights the fact that thymic NE carcinoma may develop even after TCT in MEN-1. Regular surveillance for these aggressive thymic NE tumors is mandatory even after TCT in MEN-1 setting.

  7. Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

    Science.gov (United States)

    Erlic, Zoran; Ploeckinger, Ursula; Cascon, Alberto; Hoffmann, Michael M; von Duecker, Laura; Winter, Aurelia; Kammel, Gerit; Bacher, Janina; Sullivan, Maren; Isermann, Berend; Fischer, Lars; Raffel, Andreas; Knoefel, Wolfram Trudo; Schott, Matthias; Baumann, Tobias; Schaefer, Oliver; Keck, Tobias; Baum, Richard P; Milos, Ioana; Muresan, Mihaela; Peczkowska, Mariola; Januszewicz, Andrzej; Cupisti, Kenko; Tönjes, Anke; Fasshauer, Mathias; Langrehr, Jan; von Wussow, Peter; Agaimy, Abbas; Schlimok, Günter; Lamberts, Regina; Wiech, Thorsten; Schmid, Kurt Werner; Weber, Alexander; Nunez, Mercedes; Robledo, Mercedes; Eng, Charis; Neumann, Hartmut P H

    2010-12-01

    Pancreatic islet cell tumors (ICTs) occur as sporadic neoplasias or as a manifestation of multiple endocrine neoplasia type 1 (MEN1) and von Hippel-Lindau disease (VHL). Molecular classification of ICTs is mandatory for timely diagnosis and surveillance. Systematic comparison of VHL-ICTs and sporadic ICTs has been lacking. Our registry-based approaches used the German NET-Registry with 259 patients with neuroendocrine tumors (NETs), who were primarily diagnosed with NETs, and the German VHL-Registry with 485 molecular genetically confirmed patients who had undergone magnetic resonance imaging or computed tomography of the abdomen. All patients provided blood DNA for testing of the MEN1 and VHL genes for intragenic mutations and large deletions. In the NET-Registry, 9/101 patients (8.9%) with ICTs had germline mutations, 8 in MEN1 and 1 in VHL. In the VHL-Registry, prevalence of NETs was 52/487 (10.6%), and all were ICTs. Interestingly, of those with VHL p.R167W, 47% developed ICTs, compared to 2% of those with p.Y98H. In total, there were 92 truly sporadic, i.e. mutation-negative ICT patients. Comparing these with the 53 VHL-ICT patients, the statistically significant differences were predominance of female gender (P=0.01), multifocal ICTs (P=0.0029), and lower malignancy rate (PICTs compared to sporadic cases. VHL was prevalent in ICTs, which are rarely the first presentation. Patients with NETs should not be subjected to genetic testing of the VHL gene, unless they have multifocal ICTs, other VHL-associated tumors, and/or a family history for VHL.

  8. Ionizing radiation and neoplasia

    International Nuclear Information System (INIS)

    Fajardo, L.F.

    1986-01-01

    Among the well accepted causes of neoplasia, ionizing radiation is quite prominent. Its oncogenic role was suspected by a few pioneers in the field of radiation biology, and some evidence for its oncogenicity has been available for almost 80 years. Since then unquestionable and abundant proof, statistical and experimental, has linked radiation with multiple tumors in mammals. Other forms of radiation (e.g., ultraviolet) are also causally related to neoplasia. This review, however, refers only to the tumors associated with ionizing radiation, either electromagnetic (i.e., gamma and x-rays) or particulate (alpha particles, neutrons, etc.). The field of radiation oncogenesis can be compared to a sea of hypotheses, with a few solid islands of facts. This paper considers the facts (specific radiation-induced neoplasms, risk data, etc.) and then considers some of the hypotheses (possible mechanisms of radiation oncogenesis)

  9. Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2 : an international retrospective population-based study

    NARCIS (Netherlands)

    Castinetti, Frederic; Qi, Xiao-Ping; Walz, Martin K.; Maia, Ana Luiza; Sanso, Gabriela; Peczkowska, Mariola; Hasse-Lazar, Kornelia; Links, Thera P.; Dvorakova, Sarka; Toledo, Rodrigo A.; Mian, Caterina; Bugalho, Maria Joao; Wohllk, Nelson; Kollyukh, Oleg; Canu, Letizia; Loli, Paola; Bergmann, Simona R.; Costa, Josefina Biarnes; Makay, Ozer; Patocs, Attila; Pfeifer, Marija; Shah, Nalini S.; Cuny, Thomas; Brauckhoff, Michael; Bausch, Birke; von Dobschuetz, Ernst; Letizia, Claudio; Barczynski, Marcin; Alevizaki, Maria K.; Czetwertynska, Malgorzata; Ugurlu, M. Umit; Valk, Gerlof; Plukker, John T. M.; Sartorato, Paola; Siqueira, Debora R.; Barontini, Marta; Szperl, Malgorzata; Jarzab, Barbara; Verbeek, Hans H. G.; Zelinka, Tomas; Vlcek, Petr; Toledo, Sergio P. A.; Coutinho, Flavia L.; Mannelli, Massimo; Recasens, Monica; Demarquet, Lea; Petramala, Luigi; Yaremchuk, Svetlana; Zabolotnyi, Dmitry; Schiavi, Francesca; Opocher, Giuseppe; Racz, Karoly; Januszewicz, Andrzej; Weryha, Georges; Henry, Jean-Francois; Brue, Thierry; Conte-Devolx, Bernard; Eng, Charis; Neumann, Hartmut P. H.

    Background The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to improve patient outcomes. However, the other major neoplasia associated with multiple endocrine

  10. Gestational trophoblastic neoplasia

    International Nuclear Information System (INIS)

    Barton, J.W.; McCarthy, S.; Scoutt, L.M.; Lange, R.; Kohorn, E.I.

    1989-01-01

    This paper presents a study to assess the specificity of MR findings in persistent gestational trophoblastic neoplasia (GTN) compared with common causes of elevated human chorionic gonadotropin (HCG) levels, such as ectopic pregnancy or missed abortion. Seventeen women with elevated HCG (12 with persistent GTN, five with missed abortion or ectopic pregnancy) were examined with a 1.5-T imager. Images (spin-echo and gradient-echo) were analyzed and results tested via 2 analysis for TIUV; integrity and signal intensity of the junctional zone, endometrium, and myometrium; vessel conspicuity; presence of theca lutean cysts; extrauterine mass; and cul de sac fluid

  11. Parathyroid mitogenic activity in plasma from patients with familial multiple endocrine neoplasia type 1

    International Nuclear Information System (INIS)

    Brandi, M.L.; Aurbach, G.D.; Fitzpatrick, L.A.; Quarto, R.; Spiegel, A.M.; Bliziotes, M.M.; Norton, J.A.; Doppman, J.L.; Marx, S.J.

    1986-01-01

    Hyperplasia of the parathyroid glands is a central feature of familial multiple endocrine neoplasia type 1. We used cultured bovine parathyroid cells to test for mitogenic activity in plasma from patients with this disorder. Normal plasma stimulated [ 3 H]thymidine incorporation, on the average, to the same extent as it was stimulated in a plasma-free control culture. This contrasted with the results of the tests with plasma from patients with familial multiple endocrine neoplasia type 1, in which parathyroid mitogenic activity increased 2400 percent over the control value (P less than 0.001). Plasma from these patients also stimulated the proliferation of bovine parathyroid cells in culture, whereas plasma from normal subjects inhibited it. Parathyroid mitogenic activity in plasma from the patients with familial multiple endocrine neoplasia type 1 was greater than that in plasma from patients with various other disorders, including sporadic primary hyperparathyroidism (with adenoma, hyperplasia, or cancer of the parathyroid), sporadic primary hypergastrinemia, sporadic pituitary tumor, familial hypocalciuric hypercalcemia, and multiple endocrine neoplasia type 2 (P less than 0.05). Parathyroid mitogenic activity in the plasma of patients with familial multiple endocrine neoplasia type 1 persisted for up to four years after total parathyroidectomy. The plasma also had far more mitogenic activity in cultures of parathyroid cells than did optimal concentrations of known growth factors or of any parathyroid secretagogue. This mitogenic activity had an apparent molecular weight of 50,000 to 55,000. We conclude that primary hyperparathyroidism in familial multiple endocrine neoplasia type 1 may have a humoral cause

  12. Mutations in the RET proto-oncogene in sporadic pheochromocytomas

    Energy Technology Data Exchange (ETDEWEB)

    Thibodeau, S.N.; Lindor, N.M.; Honchel, R. [Mayo Clinic and Foundation, Rochester, MN (United States)] [and others

    1994-09-01

    Mutations in the RET proto-oncogene have recently been demonstrated in kindreds with Multiple Endocrine Neoplasia (MEN) types 2A and 2B. Both of these autosomal dominant disorders are characterized by the development of neoplasia in cell lines of neural crest origin, such as medullary throid carcinomas and pheochromocytomas. Individuals with MEN 2B have, in addition, ganglioneuromas of the lips, tongue and colon, a marfanoid habitus, and corneal nerve thickening. Approximately 90% of patients with MEN 2A have a germline mutation in exons 10 or 11, while 95% of patients with MEN 2B have a T{yields}C transition in codon 918 of exon 16. In this study, pheochromocytomas from 29 individuals who had no clinical evidence of MEN 2A or 2B (sporadic) were examined for the presence of either germline or somatic mutations in exons 10, 11, and 16 of the RET proto-oncogene. Of the 29 tumors examined, 3 (10%) were found to have a mutation in one of the three exons. One tumor had a G{yields}A transition in codon 609 (exon 10), another had a 6 bp deletion encompassing codons 632 & 633 (exon 11), and the final tumor had a T{yields}C transition in codon 918 (exon 16). These mutations were not found in the corresponding normal DNA from these individuals, indicating that the mutation were somatic in origin. Although we cannot exclude the possibility of mutations in other regions of the RET proto-oncogene, our data suggests that: (1) individuals presenting with apparently sporadic pheochromocytomas are not likely to have undiagnosed MEN 2A or 2B; and (2) somatic mutations in the RET proto-oncogene contribute to the process of tumorigenesis in a small percentage of sporadic pheochromocytomas.

  13. Frequent RET protooncogene mutations in multiple endocrine neoplasia Type 2A

    Energy Technology Data Exchange (ETDEWEB)

    Quadro, L.; Panariello, L.; Salvatore, D.; Carlomagno, F.; Del Prete, M.; Nunziata, V.; Colantuoni, V.; Di Giovanni, G.; Brandi, M.L.; Mannelli, M. [and others

    1994-08-01

    The occurrence of mutations in the RET protooncogene has been investigated in 12 multiple endocrine neoplasia type 2A families and 18 cases of sporadic thyroid medullary carcinomas and pheochromocytomas. Ten of 12 families showed single base substitutions in the RET protooncogene exons 10 and 11, coding for the extracellular domain of the protein. Tumor tissues from 2 multiple endocrine neoplasia type 2A patients were analyzed at the DNA and ribonucleic acid levels and revealed the same heterozygous mutations found in the peripheral blood lymphocytes. This demonstrates that both the normal and mutant alleles are expressed. No mutations in these exons were detected in the 18 cases of sporadic tumors investigated. These data provide further evidence that the mutated RET protooncogene acts in a dominant fashion and is responsible for the pathogenesis of this syndrome. 28 refs., 2 figs., 1 tab.

  14. The genetics of radiation-induced and sporadic osteosarcoma: a unifying theory?

    International Nuclear Information System (INIS)

    Rosemann, Michael; Kuosaite, Virginija; Nathrath, Michaela; Atkinson, Michael J.

    2002-01-01

    Cancer is a disease of the genome, with the neoplastic phenotype being passed from one cell generation to the other. Radiation-induced cancer has often been considered to represent a unique entity amongst neoplasia, with the energy deposition being held responsible for both direct (gene mutations) and indirect (bystander effects, induced instability etc) alterations to the cellular genome. However, radiogenic tumours in man and experimental animals appear to be physiologically and genetically indistinguishable from their sporadic counterparts, suggesting that the aetiologies of these two tumour types are in fact closely related. We have conducted a general screen of the genetic alterations in radiation-induced mouse osteosarcoma, a tumour that is histopathologically indistinguishable from human sporadic osteosarcoma. Comparison of the two tumour types indicates the existence of a common set of genetic changes, providing additional evidence to support the concept that the molecular pathology of radiation-induced malignancy is no different to that of sporadic cancers. (author)

  15. Sporadic Insulinoma Presenting as Early Morning Night Terrors.

    Science.gov (United States)

    Beisang, Daniel; Forlenza, Gregory P; Luquette, Mark; Sarafoglou, Kyriakie

    2017-06-01

    A 16-year-old boy with a recent diagnosis of night terrors was evaluated for recurrent early morning hypoglycemia after an early morning seizure. Evaluation in clinic with critical laboratories identified hyperinsulinemic hypoglycemia. Additional investigation revealed a sporadic insulinoma as the etiology of his hypoglycemia and all symptoms were resolved after pancreaticoduodenectomy. The importance of obtaining critical laboratory samples is highlighted and appropriate radiologic, medical, and pathologic testing is discussed. We additionally review the medical and surgical management of hyperinsulinemic hypoglycemia. A discussion of multiple endocrine neoplasia type 1 associated insulinomas is included as well. This case highlights the importance of considering hypoglycemia in the evaluation of night terrors and new-onset seizures. Copyright © 2017 by the American Academy of Pediatrics.

  16. Treatment of cervical intraepithelial neoplasia in Denmark 1991 to 2007

    DEFF Research Database (Denmark)

    Barken, Sidsel Svennekjær

    2010-01-01

    Abstract: Objectives: The number of invasive cervical cancers peaked in Denmark in 1966 with 963 cases. Cervical cancer is prevented by treatment of screen-detected cervical intraepithelial neoplasia (CIN). We assessed the trend in CIN treatments in Denmark. Material and Methods: From highly...

  17. Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database.

    Science.gov (United States)

    Giusti, Francesca; Cianferotti, Luisella; Boaretto, Francesca; Cetani, Filomena; Cioppi, Federica; Colao, Annamaria; Davì, Maria Vittoria; Faggiano, Antongiulio; Fanciulli, Giuseppe; Ferolla, Piero; Ferone, Diego; Fossi, Caterina; Giudici, Francesco; Gronchi, Giorgio; Loli, Paola; Mantero, Franco; Marcocci, Claudio; Marini, Francesca; Masi, Laura; Opocher, Giuseppe; Beck-Peccoz, Paolo; Persani, Luca; Scillitani, Alfredo; Sciortino, Giovanna; Spada, Anna; Tomassetti, Paola; Tonelli, Francesco; Brandi, Maria Luisa

    2017-11-01

    The aim of this study was to integrate European epidemiological data on patients with multiple endocrine neoplasia type 1 by creating an Italian registry of this syndrome, including clinical and genetic characteristics and therapeutic management. Clinical, familial and genetic data of patients with multiple endocrine neoplasia type 1, diagnosed, treated, and followed-up for a mean time of 11.3 years, in 14 Italian referral endocrinological centers, were collected, over a 3-year course (2011-2013), to build a national electronic database. The Italian multiple endocrine neoplasia type 1 database includes 475 patients (271 women and 204 men), of whom 383 patients (80.6%) were classified as familial cases (from 136 different pedigrees), and 92 (19.4%) patients were sporadic cases. A MEN1 mutation was identified in 92.6% of familial cases and in 48.9% of sporadic cases. Four hundred thirty-six patients were symptomatic, presenting primary hyperparathyroidism, gastroenteropancreatic neuroendocrine tumors and pituitary tumors in 93, 53, and 41% of cases, respectively. Thirty-nine subjects, belonging to affected pedigrees positive for a MEN1 mutation, were asymptomatic at clinical and biochemical screening. Age at diagnosis of multiple endocrine neoplasia type 1 probands was similar for both familial and simplex cases (mean age 47.2 ± 15.3 years). In familial cases, diagnosis of multiple endocrine neoplasia type 1 in relatives of affected probands was made more than 10 years in advance (mean age at diagnosis 36.5 ± 17.6 years). The analysis of Italian registry of multiple endocrine neoplasia type 1 patients revealed that clinical features of Italian multiple endocrine neoplasia type 1 patients are similar to those of other western countries, and confirmed that the genetic test allowed multiple endocrine neoplasia type 1 diagnosis 10 years earlier than biochemical or clinical diagnosis.

  18. Absence of RET proto-oncogene abnormalities in sporadic parathyroid tumors

    Energy Technology Data Exchange (ETDEWEB)

    Pausova, Z.; Janicic, N.; Konrad, E. [McGill Univ. and Royal Victoria Hospital, Montreal (Canada)] [and others

    1994-09-01

    Parathyroid tumors can occur either sporadically or as a part of inherited cancer syndromes such as multiple endocrine neoplasia (MEN) type 2A. Recently, development of this syndrome has been shown to be related to specific mutations in the RET proto-oncogene, a putative receptor tyrosine kinase. Activation of this proto-oncogene has been demonstrated not only in tumors of the MEN 2A syndrome, but also in other neoplasia of neuroectoderm origin, namely papillary thyroid carcinoma where a rearrangement of the RET proto-oncogene has been found. In the present study, a role of the RET proto-oncogene in the development of sporadic parathyroid tumors was investigated by analyzing DNA samples obtained from 13 parathyroid adenomas and 6 parathyroid hyperplasias. Southern blot, using BamHI restricted DNA, did not reveal any gross alteration of the gene. Polymerase chain reaction (PCR) was then employed to amplify DNA fragments corresponding to exons 10 and 11 in which all MEN 2A mutations have been identified. Amplified DNA fragments were all of expected size (exon 10, 182 bp; exon 11, 233 bp). Since a single point mutation at codon 634 has been found to be associated in close to 90% of cases with development of parathyroid tumors in patients with the MEN 2A syndrome, exon 11, containing this codon, was further examined by direct sequence analysis. Sequences obtained from all tumors tested, however, did not differ from the wild type sequence. Therefore, the mutation of the RET proto-oncogene commonly associated with parathyroid neoplasias in MEN 2A is uncommon in sporadic parathyroid tumors. This suggests that the pathogenesis of parathyroid tumors occurring sporadically may be different from those occurring in patients with the MEN 2A syndrome.

  19. Human papillomavirus prevalence and type-distribution in cervical glandular neoplasias

    DEFF Research Database (Denmark)

    Holl, Katsiaryna; Nowakowski, Andrzej M; Powell, Ned

    2015-01-01

    Cervical glandular neoplasias (CGN) present a challenge for cervical cancer prevention due to their complex histopathology and difficulties in detecting preinvasive stages with current screening practices. Reports of human papillomavirus (HPV) prevalence and type-distribution in CGN vary, providi...

  20. Four year efficacy of prophylactic human papillomavirus quadrivalent vaccine against low grade cervical, vulvar, and vaginal intraepithelial neoplasia and anogenital warts: randomised controlled trial

    DEFF Research Database (Denmark)

    Dillner, Joakim; Kjaer, Susanne K; Wheeler, Cosette M

    2010-01-01

    To evaluate the prophylactic efficacy of the human papillomavirus (HPV) quadrivalent vaccine in preventing low grade cervical, vulvar, and vaginal intraepithelial neoplasias and anogenital warts (condyloma acuminata)....

  1. Intrathoracic neoplasia: Epidemiology and etiology

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1992-05-01

    Neoplasms of the thorax encompass those derived from the thoracic wall, trachea, mediastinum, lungs and pleura. They represent a wide variety of lesions including benign and malignant tumors arising from many tissues. The large surface area, 60 to 90 m{sup 2} in man, represented by the respiratory epithelium and associated thoracic structures are ideal targets for carcinogens carried by inspired air. The topic of discussion in this report is the epidemiology, etiology, and mechanisms of spontaneous intrathoracic neoplasia in animals and man. Much of what we know or suspect about thoracic neoplasia in animals has been extrapolated from experimentally-induced neoplasms.

  2. Intrathoracic neoplasia: Epidemiology and etiology

    International Nuclear Information System (INIS)

    Weller, R.E.

    1992-05-01

    Neoplasms of the thorax encompass those derived from the thoracic wall, trachea, mediastinum, lungs and pleura. They represent a wide variety of lesions including benign and malignant tumors arising from many tissues. The large surface area, 60 to 90 m 2 in man, represented by the respiratory epithelium and associated thoracic structures are ideal targets for carcinogens carried by inspired air. The topic of discussion in this report is the epidemiology, etiology, and mechanisms of spontaneous intrathoracic neoplasia in animals and man. Much of what we know or suspect about thoracic neoplasia in animals has been extrapolated from experimentally-induced neoplasms

  3. Multiple endocrine neoplasia type I

    International Nuclear Information System (INIS)

    Fischer, H.J.; Lois, J.F.; Gomes, A.S.

    1985-01-01

    A case of multiple endocrine neoplasia (Men) consisting of an unusual combination of an insulin-producing islet cell tumour and an adrenal adenoma is reported. CT clearly demonstrated the adrenal mass whereas the pancreatic lesion remained questionable. Conversely angiography located the pancreatic tumour but the adrenal findings were subtle. (orig.)

  4. Chemoprevention of gastrointestinal neoplasia.

    Science.gov (United States)

    Half, Elizabeth; Arber, Nadir

    2013-05-01

    Cancer chemoprevention is defined as the pharmacologic intervention, by drugs or nutrient-components, with the process of carcinogenesis, in order to prevent the development of invasive malignant neoplasms. This preventive attempt is particularly challenging in cancer types, which have a long subclinical developmental phase, because of their low cellular proliferation rate and their slow pre-clinical evolution, until they become clinically detectable and therapeutically as well as prognostically relevant. Therefore, only certain specific cancer types are presently in the focus of clinical chemoprevention. Among the GI tract cancer, colorectal (CRC) as well as esophageal cancer have raised the most attention over the past decades, as they both share a long precancerous stage (the adenoma in CRC and Barrett's esophagus in the case of esophageal adenocarcinoma) which provides a window of opportunity to intervene and prevent development of cancer.In this review, we will focus on both CRC as well as esophageal adenocarcinoma (EAC).

  5. High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

    Science.gov (United States)

    Sarika, H L; Papathoma, A; Garofalaki, M; Vasileiou, V; Vlassopoulou, B; Anastasiou, E; Alevizaki, M

    2012-12-01

    Genetic screening for ret mutation has become routine practice in the evaluation of medullary thyroid carcinoma (MTC). Approximately 25% of these tumours are familial, and they occur as components of the multiple endocrine neoplasia type 2 syndromes (MEN 2A and 2B) or familial MTC. In familial cases, the majority of mutations are found in exons 10, 11, 13, 14 or 15 of the ret gene. A rare mutation involving exon 8 (G533C) has recently been reported in familial cases of MTC in Brazil and Greece; some of these cases were originally thought to be sporadic. The aim of this study was to re-evaluate a series of sporadic cases of MTC, with negative family history, and screen them for germline mutations in exon 8. Genomic DNA was extracted from peripheral lymphocytes in 129 unrelated individuals who had previously been characterized as 'sporadic' based on the negative family history and negative screening for ret gene mutations. Samples were analysed in Applied Biosystems 7500 real-time PCR and confirmed by sequencing. The G533C exon 8 mutation was identified in 10 of 129 patients with sporadic MTC. Asymptomatic gene carriers were subsequently identified in other family members. In our study, we found that 7·75% patients with apparently sporadic MTC do carry G533C mutation involving exon 8 of ret. We feel that there is now a need to include exon 8 mutation screening in all patients diagnosed as sporadic MTC, in Greece. © 2012 Blackwell Publishing Ltd.

  6. Incidents malignant neoplasias maxillofacial area.

    Science.gov (United States)

    Goiato, Marcelo Coelho; Haddad, Marcela Filié; dos Santos, Daniela Micheline; Pesqueira, Aldiéres Alves; Filho, Humberto Gennari; Pellizzer, Eduardo Piza

    2009-07-01

    Cancer is regarded as abnormal cellular multiplication; it is not controlled by the organism, and its cells present a differentiated DNA. Initially, the disease does not show clinical signs, but it can be diagnosed by laboratory examinations. When tumors are present in the maxillofacial area, the carrier can lose structures in this area, resulting to the carrier's social environment exclusion. This article aims to show incidences and causes of malignant neoplasias in the maxillofacial area.

  7. Adult onset sporadic ataxias: a diagnostic challenge

    Directory of Open Access Journals (Sweden)

    Orlando Graziani Povoas Barsottini

    2014-03-01

    Full Text Available Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.

  8. Four year efficacy of prophylactic human papillomavirus quadrivalent vaccine against low grade cervical, vulvar, and vaginal intraepithelial neoplasia and anogenital warts: randomised controlled trial

    DEFF Research Database (Denmark)

    Dillner, Joakim; Kjaer, Susanne K; Wheeler, Cosette M

    2010-01-01

    To evaluate the prophylactic efficacy of the human papillomavirus (HPV) quadrivalent vaccine in preventing low grade cervical, vulvar, and vaginal intraepithelial neoplasias and anogenital warts (condyloma acuminata).......To evaluate the prophylactic efficacy of the human papillomavirus (HPV) quadrivalent vaccine in preventing low grade cervical, vulvar, and vaginal intraepithelial neoplasias and anogenital warts (condyloma acuminata)....

  9. Genitoanal human papillomavirus infection and associated neoplasias.

    Science.gov (United States)

    Gross, Gerd

    2014-01-01

    -cell neoplasias and cancer precursors may mimic condylomata acuminata. These malignant counterparts have to be ruled out by biopsy and a thorough histological workup. Therapy of manifest genitoanal HPV-associated lesions has profited from the development of local immunotherapy with imiquimod and local therapy with green tea derivatives (sinecatechin) 10% (Europe) and 15% (USA). Disease recurrence is a crucial problem with treatment, one that could potentially be reduced with the use of immunomodulating agents such as immuquimod and sinecatachins. Recently primary prevention of genitoanal clinical manifestations associated with HPV-6, -11, -16 and -18 including cancer precursors (intraepithelial neoplasias) has become true by the release of prophylactic quadrivalent (HPV-6, -11, -16, -18) and bivalent (HPV-16, -18) vaccines. These vaccines consist of HPV L1 virus-like particles which induce high anti-L1 serum-neutralizing antibody concentrations. Dermatologists and venereologists, general practitioners and pediatricians should cooperate with gynecologists to vaccinate young women and men in order to increase vaccination rates. In Australia and Scotland, an immense efficacy has been observed both regarding the prevention of benign genitoanal warts and cancer precursors caused by the vaccine HPV types. An absolute prerequisite of such a successful prevention against HPV-associated neoplasias is the administration of the vaccine before the first sexual contact. © 2014 S. Karger AG, Basel.

  10. Post-surgical follow-up of primary hyperparathyroidism associated with multiple endocrine neoplasia type 1

    Directory of Open Access Journals (Sweden)

    Flavia L. Coutinho

    2012-01-01

    Full Text Available The bone mineral density increments in patients with sporadic primary hyperparathyroidism after parathyroidectomy have been studied by several investigators, but few have investigated this topic in primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Further, as far as we know, only two studies have consistently evaluated bone mineral density values after parathyroidectomy in cases of primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Here we revised the impact of parathyroidectomy (particularly total parathyroidectomy followed by autologous parathyroid implant into the forearm on bone mineral density values in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Significant increases in bone mineral density in the lumbar spine and femoral neck values were found, although no short-term (15 months improvement in bone mineral density at the proximal third of the distal radius was observed. Additionally, short-term and medium-term calcium and parathyroid hormone values after parathyroidectomy in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1 are discussed. In most cases, this surgical approach was able to restore normal calcium/parathyroid hormone levels and ultimately lead to discontinuation of calcium and calcitriol supplementation.

  11. [Heredity in renal and prostatic neoplasia].

    Science.gov (United States)

    Prayer Galetti, T; D'Arrigo, L; De Zorzi, L; Patarnello, T

    1997-09-01

    There is an ever growing report of data supporting the evidence that accumulated genetic changes underlie the development of neoplasia. The paradigma of this multistep process is colon cancer were cancer onset is associated, over decades, with at least seven genetic events. The number of genetic alterations increases moving from adenomatous lesions to colon cancer and, although the genetic alterations occur according to a preferred sequence, the total accumulation of changes rather than their sequential order is responsible of tumor biological behavior. It is noteworthy that, at least for this neoplasia, carcinogenesis appears to arise as a result of the mutational activation of oncogenes coupled with the mutational inactivation of tumor suppressor genes. In some cases mutant suppressor genes appear to exert a phenotypic effect even when present in the heterozygous state thus been non "recessive" at the cellular level. The general features of this model may apply also to renal cell cancer (RCC) and prostate cancer (CaP). Extensive literature exists on the cytogenetic and molecular findings in RCC. Only 2% of RCC are familiar, but molecular genetic studies of these cancers have provided important informations on RCC pathogenesis. As with other cancers, familiar RCC is characterized by an early age of onset and frequent multicentricity. A pathological classification useful in studying these patients subdivide renal cancers in papillary (pRCC) and non papillary (RCC) neoplasms. The most common cause of inherited RCC is the Von Hippel Lindau disease (VHL) a dominantly inherited multisystem disorder characterized by retinal and cerebellar hemangioblastomas, pheochromocytomas, pancreatic cysts and RCC. Over 70% of these patients will develop an RCC by their sixth decade. In 1993 the isolation of the tumor suppressor gene in VHL disease at the level of chromosome 3p25-p26 have lead to a better understanding of RCC. Most missense mutations are associated with high risk of

  12. Mutation analysis of the RET gene in individuals with sporadic and familial pheochromocytoma

    Energy Technology Data Exchange (ETDEWEB)

    Iyengar, S.; Sirugo, G.; Bale, A.E. [Yale Univ. School of Medicine, New Haven, CT (United States)] [and others

    1994-09-01

    Pheochromocytoma is common to many familial cancer syndromes including multiple endocrine neoplasia type 2A (MEN2A), von Hippel-Lindau (VHL) and neurofibromatosis (NF). Although sporadic cases of pheochromocytoma have been examined for mutations in exons 10, 11 and 16 of the RET gene, only one case with a mutation in exon 16 has been reported thus far. We are performing systematic examination of exons of the RET gene, which has previously been associated with mutation in both MEN2 A and B, to determine the role RET may play in the etiology of pheochromocytoma. Seventeen cases of sporadic pheochromocytoma and 3 cases of sporadic medullary thyroid carcinoma were obtained from the pathology archives. Histopathology of all specimens was confirmed to be either pheochromocytoma or medullary thyroid carcinoma before DNA was extracted from 0.5{mu} thin sections of paraffin-embedded tissue. DNA from familial pheochromocytoma patients was also available for analysis. All sporadic and familial cases were amplified for exons 2, 6 and 16 of the RET gene. Single strand conformational polymorphism (SSCP) analysis was performed for exons 2 and 6. On finding a variation in the SSCP pattern in the pheochromocytoma kindred we sequenced all the samples for exon 2. A single base pair variation was found, which did not segregate with pheochromocytoma in the family. No variant SSCP patterns have been observed with the exon 6 PCR products thus far. Exon 16 PCR products were subjected to DNA restriction analysis with Fok I. This enzyme detects a single base pair change associated with MEN2 B. With the exception of one sample with sporadic medullary thyroid carcinoma, all samples showed the normal pattern on DNA restriction analysis. Thus we can exclude exons 2 and 6 of the RET gene in the pathogenesis of pheochromocytoma. SSCP analyses with other exons in the RET gene are underway.

  13. Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature

    Directory of Open Access Journals (Sweden)

    Nozières Cécile

    2011-10-01

    Full Text Available Abstract Background Somatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH, is extremely rare in childhood. A genetic defect is evident in some cases; known genetic changes include: multiple endocrine neoplasia type 1 (MEN1; Carney complex; McCune-Albright syndrome; and, more recently identified, aryl hydrocarbon receptor-interacting protein (AIP. We describe seven children with somatotropinoma with a special focus on the differences between genetic and sporadic forms. Methods Seven children who presented in our regional network between 1992 and 2008 were included in this retrospective analysis. First-type therapy was somatostatin (SMS analogues or transsphenoidal surgery. Control was defined as when insulin-like growth factor-1 (IGF-1 levels were within the normal range for the patient's age at 6 months after therapy, associated with decreasing tumour volume. Results Patients were aged 5-17 years and the majority (n = 6 were male. Four patients had an identified genetic mutation (McCune-Albright syndrome: n = 1; MEN1: n = 1; AIP: n = 2; the remaining three cases were sporadic. Accelerated growth rate was reported as the first clinical sign in four patients. Five patients presented with macroadenoma; invasion was noted in four of them (sporadic: n = 1; genetic: n = 3. Six patients were treated with SMS analogues; normalisation of IGF-1 occurred in one patient who had a sporadic intrasellar macroadenoma. Multiple types of therapy were necessary in all patients with an identified genetic mutation (4 types: n = 1; 3 types: n = 2; 2 types: n = 1, whereas two of the three patients with sporadic somatotropinoma required only one type of therapy. Conclusions This is the first series that analyzes the therapeutic response of somatotropinoma in paediatric patients with identified genetic defects. We found that, in children, genetic somatotropinomas are more invasive than sporadic somatotropinomas. Furthermore

  14. CD44 in hematological neoplasias.

    Science.gov (United States)

    Hertweck, Magdalena Katharina; Erdfelder, Felix; Kreuzer, Karl-Anton

    2011-05-01

    The CD44 protein family spans a large group of transmembrane glycoproteins acquired by alternative splicing and post-translational modifications. The great heterogeneity in molecular structure is reflected in its various important functions: CD44 mediates (1) interaction between cell and extracellular matrix, (2) signal submission, e.g., by acting as co-receptor for membrane-spanning receptor tyrosine kinases or by association with intracellular molecules initiating several signaling pathways, and (3) anchor function connecting to the cytoskeleton via the ezrin-radixin-moesin protein family. The expression pattern of the different CD44 isoforms display strong variations dependent on cell type, state of activation, and differentiation stage. In hematopoietic cells, CD44 mediates interaction of progenitor cells and bone marrow stroma during hematopoiesis, regulates maturation, and activation-induced cell death in T cells, influences neutrophil and macrophage migration as well as cytokine production, and participates in lymphocyte extravasation and migration. CD44 is involved in development and progress of hematological neoplasias by enhancement of apoptotic resistance, invasiveness, as well as regulation of bone marrow homing, and mobilization of leukemia-initiating cells into the peripheral blood. Thereby altered CD44 expression functions as marker for worse prognosis in most hematological malignancies. Additionally, CD44 expression levels can be used to distinguish between different hematological neoplasias and subtypes. Concerning new treatment strategies, CD44 displays promising potential either by direct targeting of CD44 expressed on the malignant cells or reversing an acquired resistance to primary treatment mediated through altered CD44 expression. The former can be achieved by antibody or hyaluronan-based immunotherapy.

  15. [Intratubular germ cell neoplasia--review article].

    Science.gov (United States)

    Hes, O; Michal, M; Hora, M

    2007-10-01

    Intratubular germ cell neoplasia is a precursor lesion for germ cell testicular tumors. It is defined as presence of germ cells with abundant vacuolated cytoplasm and large irregular nuclei with nucleoli within seminiferous tubules. The whole morphologic spectrum of intratubular germinal tumors is discussed. Placental alcaline phosphatase, OCT 3/4 can be demonstrated in majority of the cases. Ultrastructural examination does not play a substantial role in differential diagnosis. Gain of chromosome 12p, which is typical for invasive germ cell tumors is absent in pure intratubular germ cell neoplasia. Spermatogonic arrest and rare reactive changes within seminiferous tubuli have to be distinguished from intratubular germ cell neoplasia.

  16. Anal intraepitelial neoplasia: a narrative review

    Directory of Open Access Journals (Sweden)

    Garazi Elorza

    2016-01-01

    Full Text Available Anal intraepitelial neoplasia (AIN constitutes a major health problem in certain risk groups, such as patients with immunosuppression of varied origin, males who have sexual relations with other males, and females with a previous history of vaginal or cervical abnormalities in cytology. Its relationship with the human papillomavirus (HPV infection has been well documented; however, many of the factors involved in the progression and regression of the viral infection to dysplasia and anal carcinoma are unknown. AIN can be diagnosed through cytology of the anal canal or biopsy guided by high-resolution anoscopy. However, the need for these techniques in high-risk groups remains controversial. Treatment depends on the risk factors and given the high morbidity and high recurrence rates the utility of the different local treatments is still a subject of debate. Surgical biopsy is justified only in the case of progression suggesting lesions. The role of the vaccination in high-risk patients as primary prevention has been debated by different groups. However, there is no general consensus on its use or on the need for screening this population.

  17. Aneuploidy and proliferation in keratinocytic intraepidermal neoplasias.

    NARCIS (Netherlands)

    Smits, T.; Olthuis, D.; Blokx, W.A.M.; Kleinpenning, M.M.; Kerkhof, P.C.M. van de; Erp, P.E.J. van; Gerritsen, M.J.P.

    2007-01-01

    Cutaneous squamous (pre)malignancies can be classified according to the keratinocytic intraepidermal neoplasia (KIN) classification. Aneuploidy can be seen as the result of chromosomal aberrations leading to altered DNA content and has been strongly associated with malignancy. Hyperproliferation is

  18. COMPUTED TOMOGRAPHIC EVALUATION OF CANINE PHARYNGEAL NEOPLASIA

    OpenAIRE

    Carozzi, Gregorio

    2016-01-01

    Computed tomography (CT) is commonly used to investigate head tumours in dogs, and is a fundamental part of the diagnostic work-up, for diagnosis, staging and planning therapy in neoplastic disease. Nasal diseases, either neoplastic or non-neoplastic diseases, oral neoplasia, brain disease, thyroid or carotid body neoplasia have been extensively studied. However little information are available for lesions of the pharyngeal area. In this thesis, cases of dogs affected by pharyngeal neoplas...

  19. Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer

    DEFF Research Database (Denmark)

    Stevanato Filho, Paulo Roberto; Aguiar Júnior, Samuel; Begnami, Maria Dirlei

    2017-01-01

    BACKGROUND: Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas are ...... provide a better understanding of oestrogens and their potential preventive and therapeutic effects on sporadic colorectal cancer and cancers associated with FAP syndrome.......BACKGROUND: Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas...... was identified in sporadic polyps and in sporadic colorectal cancer as well as in polyps from FAP syndrome patients compared with normal tissues (p

  20. Sporadic lymphoplasmacytic cholecystitis: a clinicopathologic entity.

    Science.gov (United States)

    Hammer, Suntrea T G; Appelman, Henry D

    2014-08-01

    To describe a sporadic form of lymphoplasmacytic cholecystitis (LPC), a condition known to occur in patients with chronic biliary tract disease. One year's worth of cholecystectomies was reviewed for sporadic cases of LPC. Histologic, radiologic, and clinical findings were reviewed and compared with noninflamed controls. Sporadic cases were also compared histologically with obstructive LPC cases. Sporadic LPC made up 7% of cholecystectomies, had a male predominance (54.2%), and more often presented with clinical signs of acute inflammation compared with controls. Radiologic findings identified gallstones in 71.4% of patients. The second most common finding was unexplained extrahepatic biliary dilation. There were no unique histologic findings to separate sporadic cases from those associated with pancreatobiliary disease. While obstructive LPC is traditionally described as acalculous, chronic cholecystitis, we show this inflammatory pattern occurs both in the presence of gallstones and outside of previously described disease categories. In addition, LPC occurs in a unique patient demographic (older men), often presenting similarly to acute cholecystitis. Copyright© by the American Society for Clinical Pathology.

  1. Schwannoma intercostal simulando neoplasia pulmonar

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    Henn L.A.

    1998-01-01

    Full Text Available Schwannoma é uma neoplasia mesenquimal, usualmente solitária, encontrada no mediastino, retroperitônio ou pelve, sendo rara sua apresentação na parede torácica. OBJETIVO: Relatar o caso de um paciente masculino, tabagista, com um nódulo pulmonar direito com características de malignidade, detectado em radiografia de tórax de rotina, cujo diagnóstico anatomopatológico foi de schwannoma benigno de nervo intercostal. MÉTODOS: Revisaram-se os dados referentes ao quadro clínico, exames laboratoriais e de imagem (radiografia e tomografia computadorizada de tórax do caso em estudo, assim como os exames anatomopatológico e imuno-histoquímico do espécime cirúrgico. RESULTADOS: O paciente foi submetido à toracotomia direita diagnóstica com ressecção da tumoração. O exame anatomopatológico convencional mostrou células tumorais de aspecto fusiforme, dispostas em paliçada, formando os corpos de Verocay, compatível com schwannoma intercostal. A imuno-histoquímica foi positiva para proteína S-100, vimentina e enolase, e negativa para neurofilamentos. CONCLUSÃO: O diagnóstico definitivo de schwannoma só é possível por meio da análise histopatológica e imuno-histoquímica da lesão. Seu aspecto celular, associado à atividade mitótica e a áreas de pleomorfismo, pode levar ao diagnóstico incorreto de malignidade. A imuno-histoquímica, por meio da proteína S-100, é útil na caracterização da benignidade da lesão, já que não é detectada nas lesões malignas. Os schwannomas de parede torácica podem simular neoplasias pulmonares na radiografia e tomografia computadorizada de tórax.

  2. A shared transcriptional program in early breast neoplasias despite genetic and clinical distinctions.

    Science.gov (United States)

    Brunner, Alayne L; Li, Jun; Guo, Xiangqian; Sweeney, Robert T; Varma, Sushama; Zhu, Shirley X; Li, Rui; Tibshirani, Robert; West, Robert B

    2014-05-23

    The earliest recognizable stages of breast neoplasia are lesions that represent a heterogeneous collection of epithelial proliferations currently classified based on morphology. Their role in the development of breast cancer is not well understood but insight into the critical events at this early stage will improve efforts in breast cancer detection and prevention. These microscopic lesions are technically difficult to study so very little is known about their molecular alterations. To characterize the transcriptional changes of early breast neoplasia, we sequenced 3'- end enriched RNAseq libraries from formalin-fixed paraffin-embedded tissue of early neoplasia samples and matched normal breast and carcinoma samples from 25 patients. We find that gene expression patterns within early neoplasias are distinct from both normal and breast cancer patterns and identify a pattern of pro-oncogenic changes, including elevated transcription of ERBB2, FOXA1, and GATA3 at this early stage. We validate these findings on a second independent gene expression profile data set generated by whole transcriptome sequencing. Measurements of protein expression by immunohistochemistry on an independent set of early neoplasias confirms that ER pathway regulators FOXA1 and GATA3, as well as ER itself, are consistently upregulated at this early stage. The early neoplasia samples also demonstrate coordinated changes in long non-coding RNA expression and microenvironment stromal gene expression patterns. This study is the first examination of global gene expression in early breast neoplasia, and the genes identified here represent candidate participants in the earliest molecular events in the development of breast cancer.

  3. Genetic instability in inherited and sporadic leukemias.

    Science.gov (United States)

    Popp, Henning D; Bohlander, Stefan K

    2010-12-01

    Genetic instability due to increased DNA damage and altered DNA repair is of central significance in the initiation and progression of inherited and sporadic human leukemias. Although very rare, some inherited DNA repair insufficiency syndromes (e.g., Fanconi anemia, Bloom's syndrome) have added substantially to our understanding of crucial mechanisms of leukemogenesis in recent years. Conversely, sporadic leukemias account for the main proportion of leukemias and here DNA damaging reactive oxygen species (ROS) play a central role. Although the exact mechanisms of increased ROS production remain largely unknown and no single pathway has been detected thus far, some oncogenic proteins (e.g., the activated tyrosine kinases BCR-ABL1 and FLT3-ITD) seem to play a key role in driving genetic instability by increased ROS generation which influences the disease course (e.g., blast crisis in chronic myeloid leukemia or relapse in FLT3-ITD positive acute myeloid leukemia). Of course other mechanisms, which promote genetic instability in leukemia also exist. A newly emerging mechanism is the genome-wide alteration of epigenetic marks (e.g., hypomethylation of histone H3K79), which promotes chromosomal instability. Taken together genetic instability plays a critical role both in inherited and sporadic leukemias and emerges as a common theme in both inherited and sporadic leukemias. Beyond its theoretical impact, the analysis of genetic instability may lead the way to the development of innovative therapy strategies. © 2010 Wiley-Liss, Inc.

  4. Neoplasias malignas: caracterización

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    Freddie Hernández Cisneros

    1997-02-01

    Full Text Available Se realizó un estudio transversal con el objetivo de caracterizar a los pacientes con neoplasias malignas en un área de salud desde marzo de 1994 hasta agosto del mismo año; el universo de estudio estuvo representado por 75 pacientes diagnosticados con algún tipo de afección maligna y el registro primario de los datos, por una encuesta con variables seleccionadas; se procesó la información de una forma computadorizada. Se encontraron como resultados más importantes: una mayor incidencia en el grupo de edad de 50 años y más; un 56 % fumaba y un 17,33 % ingería bebidas alcohólicas; las 3 localizaciones más frecuentes fueron: mama, cuello del útero y piel, y se detectaron deficiencias llamativas en la promoción y la prevención de estas enfermedades.: A cross-sectional study was carried out, with the aim of characterizing the patients with malignant neoplasms in a health area, from March 1994 to August of the same year; the universe of study was represented by 75 patients diagnosed with some kind of malignant disease, and the primary score of the data, by means of a survey with selected variables; information was processed in a computed way. The most important results found, were: the highest incidence in the 50 years old or more age group; the 56 % smoked, and the 17.33 % drank alcoholic beverages; the three most frequent sites, were: breast, cervix uteri and skin, and also outstanding defficiencies were detected in the promotion and prevention of these diseases.

  5. Magnified endoscopy combined with narrow band imaging of minimal superficial esophageal neoplasia-indicators to differentiate intraepithelial neoplasias.

    Science.gov (United States)

    Mochizuki, Yosuke; Saito, Yasuharu; Kobori, Ayako; Ban, Hiromitsu; Shioya, Makoto; Nishimura, Takashi; Inatomi, Osamu; Bamba, Shigeki; Tsujikawa, Tomoyuki; Ishida, Mitsuaki; Andoh, Akira; Fujiyama, Yoshihide

    2012-12-01

    Clinical application of narrow band imaging facilitates diagnosis of esophageal neoplasia. However, no previous investigation has been conducted on magnifying endoscopy combined with narrow band imaging in detection of minimal superficial esophageal neoplasia, which is defined as neoplasia neoplasia. Between January 2005 and November 2011, 53 minimal superficial esophageal neoplasias in 40 patients were diagnosed by screening upper gastrointestinal endoscopy with narrow band imaging at our hospital. We investigated findings including brownish dots, brownish epithelium, and demarcation line of minimal superficial esophageal neoplasia diagnosed histopathologically as low-grade intraepithelial neoplasia, high-grade intraepithelial neoplasia, and squamous cell carcinoma. Significantly more brownish dots (P neoplasia compared with low-grade neoplasia. When minimal superficial esophageal neoplasia was diagnosed as high-grade intraepithelial neoplasia or squamous cell carcinoma, sensitivity, specificity, positive predictive value, and negative predictive value were 88.9, 42.9, 44.4, and 88.2%, respectively, for brownish dots; 94.4, 51.4, 50.0, and 94.7%, respectively, for brownish epithelium; and 66.7, 62.9, 48.0, and 78.6%, respectively, for demarcation line. The combined technique was useful in the differential diagnosis of minimal superficial esophageal neoplasia.

  6. Neurocutaneous spectrum of multiple endocrine neoplasia-1

    Directory of Open Access Journals (Sweden)

    Shireen Furtado

    2012-01-01

    Full Text Available Multiple endocrine neoplasia type I or Wermer syndrome is characterized by primary hyperparathyroidism, enteropancreatic endocrine tumor, and a pituitary pathology. A 35-year-old male presented with visual field defects, hyperprolactinemia, and hypogonadism. He also had multiple infraumbilical skin-colored nodules. A syndromal association of Wermer syndrome was derived using the dermal, pituitary, parathyroid, and gastrointestinal hormonal manifestations of the tumor. The radiological and histological findings of lesion which underwent biopsy are discussed. The presence of collagenomas, lipomas, and hypopigmented macules in a patient with neuroendocrine symptoms should raise the suspicion of an underlying multiple endocrine neoplasia.

  7. Manejo dos portadores das neoplasias intraepiteliais anais Managment of anal intra-epithelial neoplasia patients

    Directory of Open Access Journals (Sweden)

    Sidney Roberto Nadal

    2008-12-01

    Full Text Available Acredita-se que a neoplasia intraepitelial anal (NIA, provocada pelo HPV, seja a lesão precursora do carcinoma anal. Segundo a literatura, são encontradas entre 11% e 52% dos homens infectados pelo HIV, entre 6% a 20% dos homens e 1% a 2,8% das mulheres sem essa infecção. Entre 8,5% e 13% das NIA de alto grau evoluirão para carcinoma invasivo, indicando a necessidade do rastreamento e do seguimento desses doentes para prevenção. Não há tratamento satisfatório com baixos índices de morbidez e a recidiva é comum. Em geral, as formas de tratamento podem de ser divididas em tópicas, entre elas, ácido tricloroacético, podofilina, podofilotoxina, imiquimod, terapia fotodinâmica, e ablativas, ou seja, excisão cirúrgica, ablação pelo LASER, coagulação pelo infravermelho e eletrofulguração. Há, ainda, os que consideram aceitável a conduta expectante. O tratamento tópico se justifica pelo caráter multifocal da lesão e os ablativos têm taxas de complicação e recidiva muito semelhantes. De qualquer forma, doentes com qualquer anormalidade histológica necessitam de seguimento adequado, principalmente com colposcopia e citologia anal.Anal intra-epithelial neoplasia (AIN, provoked by HPV, is considered as an anal cancer precursor. Some articles noticed that it occurred among 11% and 52% of men who have sex with men (MSM infected with HIV and, among seronegatives, from 6% to 20% of men and from 1% to 2.8% of women. From 8.5% to 13% of high grade AIN will evolve to invasive carcinoma, needing follow-up and screening for prevention. There is no satisfactory treatment with low morbidity and recurrence is frequent. There are two main forms of treatment: topics (trichloroacetic acid, podophylin, podophylotoxin, imiquimod, photodynamic therapy and ablatives (chirurgical excision, LASER, infrared, eletrocautery. Others consider acceptable an expectant management. Topical therapy is justified because of multifocal presentation of HPV

  8. Can the TLR-4-Mediated Signaling Pathway Be “A Key Inflammatory Promoter for Sporadic TAA”?

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    Giovanni Ruvolo

    2014-01-01

    Full Text Available Thoracic aorta shows with advancing age various changes and a progressive deterioration in structure and function. As a result, vascular remodeling (VR and medial degeneration (MD occur as pathological entities responsible principally for the sporadic TAA onset. Little is known about their genetic, molecular, and cellular mechanisms. Recent evidence is proposing the strong role of a chronic immune/inflammatory process in their evocation and progression. Thus, we evaluated the potential role of Toll like receptor- (TLR- 4-mediated signaling pathway and its polymorphisms in sporadic TAA. Genetic, immunohistochemical, and biochemical analyses were assessed. Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR=14.4, P=0.0008 and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor. In consistency with these data, a significant association was observed between their combined risk genotype and sporadic TAA. Cases bearing this risk genotype showed higher systemic inflammatory mediator levels, significant inflammatory/immune infiltrate, a typical MD phenotype, lower telomere length, and positive correlations with histopatological abnormalities, hypertension, smoking, and ageing. Thus, TLR4 pathway should seem to have a key role in sporadic TAA. It might represent a potential useful tool for preventing and monitoring sporadic TAA and developing personalized treatments.

  9. The driver landscape of sporadic chordoma.

    Science.gov (United States)

    Tarpey, Patrick S; Behjati, Sam; Young, Matthew D; Martincorena, Inigo; Alexandrov, Ludmil B; Farndon, Sarah J; Guzzo, Charlotte; Hardy, Claire; Latimer, Calli; Butler, Adam P; Teague, Jon W; Shlien, Adam; Futreal, P Andrew; Shah, Sohrab; Bashashati, Ali; Jamshidi, Farzad; Nielsen, Torsten O; Huntsman, David; Baumhoer, Daniel; Brandner, Sebastian; Wunder, Jay; Dickson, Brendan; Cogswell, Patricia; Sommer, Josh; Phillips, Joanna J; Amary, M Fernanda; Tirabosco, Roberto; Pillay, Nischalan; Yip, Stephen; Stratton, Michael R; Flanagan, Adrienne M; Campbell, Peter J

    2017-10-12

    Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases. Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represent a novel cancer gene in chordoma.Chordoma is a rare often incurable malignant bone tumour. Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations in LYST, a potential novel cancer gene in chordoma.

  10. Management outcome of ocular surface conjunctival neoplasia ...

    African Journals Online (AJOL)

    Background: Ocular surface squamous neoplasia (OSSN)are aspectrum of lesions that arise from the squamous epithelium of the conjunctiva and cornea. They form the most frequent indication for orbital exenteration in Korle-bu Teaching Hospital, Accra. Poor management of early lesions leads to high rates of tumour ...

  11. Risk Factors for Cervical Intraepithelial Neoplasia

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    Estrella de la Caridad Armenteros Espino

    2016-09-01

    Full Text Available Background: cervix cancer constitutes the second cause of death worldwide, with new diagnosis each year. Objective: to determine the risk factors of cervical intraepithelial neoplasia in the municipality of Cruces. Methods: it was developed an analytical research with case and control design from November 2013 to November 2014. The group of cases was formed of the 34 women with this diagnosis. There were selected 64 females from the same environment with the same age for the control group. The data obtained by surveys and clinical records reviews were presented in absolute numbers and percentages. It was used Chi-squared test and odd ratio. Results: 52 % of women with neoplasia were less than 25 years old. Significant differences were found which associate neoplasia with early sexual intercourse, sexually transmitted infections by Papilloma virus, Plane genital condyloma, and the use of oral contraceptive pills. Multiple sex partner was a frequent antecedent. Conclusion: risk factors associated to cervical intraepithelial neoplasia in the group of women studied in the Cruces municipality were early sexual intercourse, mainly before 15 years old, multiple sex partner, sexually communicated diseases and the use of oral contraceptive pills for more than 5 years.

  12. Microparticles and Exosomes in Gynecologic Neoplasias

    NARCIS (Netherlands)

    Nieuwland, Rienk; van der Post, Joris A. M.; Lok Gemma, Christianne A. R.; Kenter, G.; Sturk, Augueste

    2010-01-01

    This review presents an overview of the functions of microparticles and exosomes in gynecologic neoplasias. Growing evidence suggests that vesicles released from cancer cells in gynecologic malignancies contribute to the hypercoagulable state of these patients and contribute to tumor progression by

  13. ROLE OF TOPICAL POSTOPERATIVE MITOMYCIN-C IN OCULAR SURFACE SQUAMOUS NEOPLASIA: A CASE REPORT

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    Bindu Madhavi

    2016-03-01

    Full Text Available PURPOSE To report the efficacy of topical Mitomycin-C in preventing local recurrences after incomplete surgical excision of ocular surface squamous neoplasia. METHODS An interventional case report on a 70-year-old female patient with unilateral ocular surface squamous neoplasia (OSSN. Excision biopsy revealed invasive squamous cell carcinoma. All margins were positive for neoplastic cells. Patient was treated with topical Mitomycin-C 0.04% one drop, four times per day in alternate weeks for 4 weeks to prevent recurrences. RESULT The patient was free of clinically detectable tumour & on impression cytology after a followup period of 10 weeks. Side effects included photophobia, mild redness & punctate epithelial keratopathy. CONCLUSION Postoperative topical Mitomycin-C application may be a useful adjunct to prevent recurrences in patients with incompletely excised OSSN.

  14. Characteristics of the Danish families with multiple endocrine neoplasia type 1

    DEFF Research Database (Denmark)

    Jäger, Anne Charlotte; Friis-Hansen, Lennart; Hansen, Thomas V O

    2006-01-01

    Multiple endocrine neoplasia type 1 (MEN1) is caused by autosomal dominantly inherited mutations in the MEN1 gene. Here, we report 25 MEN1 mutations - of which 12 are novel - found in 36 Danish families with MEN1 or variant MEN1 disease. Furthermore, one FIHP family was found to have an earlier...... mutation carriers. Two of these belonged to known MEN1 families, whereas the only MEN1-related disease in the other three was pHPT. Screening of 96 consecutive patients with fore-/midgut endocrine tumours revealed five mutation carries out of 28 patients with sporadic gastrinomas, whereas no mutations were...... found in 68 patients with other fore-/midgut endocrine tumours. Moreover, screening of 60 consecutive patients with primary prolactinoma did not identify any mutation carriers. Our data indicate that MEN1 mutation screening is efficient in patients with familial MEN1. Screening should also be offered...

  15. Comparison Between Sporadic and Misdiagnosed Sporadic Creutzfeldt-Jakob Disease: A Report of Two Cases.

    Science.gov (United States)

    Zhao, Xiongfei; Yu, Yingxin; Zhao, Zhiru; Xu, Jiaping

    2015-06-01

    Definite accurate diagnosis for Creutzfeldt-Jakob disease (CJD) depends on neuropathologic examination of brain biopsy or autopsy. However, transmissible nature makes the invasive examination dangerous. This study was set to determine that the clinical features are for the diagnosis of CJD through a comparison study. We compared clinical features of two cases with initial diagnosis of sporadic CJD. One case was finally diagnosed as definite sporadic CJD. According to World Health Organization diagnosis criteria, the other one, which had been diagnosed as probable sporadic CJD, was confirmed as limbic encephalitis after long-term follow-up. Compared with the case of definite sporadic CJD, the misdiagnosed case did not present typical electroencephalogram (EEG) and diffusion-weighted in magnetic resonance images (DWI) of CJD. However, cerebrospinal fluid in the misdiagnosed patient showed 14-3-3 protein positivity. The patient conditions improved after treatment. Through this case comparison, we conclude that EEG and DWI are necessary for accurate diagnosis of sporadic CJD. Further, long-term follow-up is crucial to diagnosis and treatment of CJD.

  16. The Danish National Chronic Myeloid Neoplasia Registry

    Directory of Open Access Journals (Sweden)

    Bak M

    2016-10-01

    Full Text Available Marie Bak,1 Else Helene Ibfelt,2 Thomas Stauffer Larsen,3 Dorthe Rønnov-Jessen,4 Niels Pallisgaard,5 Ann Madelung,6 Lene Udby,1 Hans Carl Hasselbalch,1 Ole Weis Bjerrum,7 Christen Lykkegaard Andersen1,7 1Department of Hematology, Zealand University Hospital, University of Copenhagen, Roskilde, 2Research Centre for Prevention and Health, Rigshospitalet Glostrup, University of Copenhagen, Glostrup, 3Department of Hematology, Odense University Hospital, Odense, 4Department of Hematology, Vejle Hospital, Vejle, 5Department of Surgical Pathology, Zealand University Hospital, University of Copenhagen, Roskilde, 6Department of Surgical Pathology, Zealand University Hospital, University of Copenhagen, Næstved, 7Department of Hematology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark Aim: The Danish National Chronic Myeloid Neoplasia Registry (DCMR is a population-based clinical quality database, introduced to evaluate diagnosis and treatment of patients with chronic myeloid malignancies. The aim is to monitor the clinical quality at the national, regional, and hospital departmental levels and serve as a platform for research. Study population: The DCMR has nationwide coverage and contains information on patients diagnosed at hematology departments from January 2010 onward, including patients with essential thrombocythemia, polycythemia vera, myelofibrosis, unclassifiable myeloproliferative neoplasms, chronic myelomonocytic leukemia, and chronic myeloid leukemia. Main variables: Data are collected using standardized registration forms (so far up to four forms per patient, which are consecutively filled out online at time of diagnosis, after 2-year and 5-year follow-ups, and at end of follow-up. The forms include variables that describe clinical/paraclinical assessments, treatment, disease progression, and survival – disease-specific variables – as well as variables that are identical for all chronic myeloid malignancies. Descriptive

  17. RET-mediated modulation of tumor microenvironment and immune response in multiple endocrine neoplasia type 2 (MEN2).

    Science.gov (United States)

    Castellone, Maria Domenica; Melillo, Rosa Marina

    2018-02-01

    Medullary thyroid carcinomas (MTC) arise from thyroid parafollicular, calcitonin-producing C-cells and can occur either as sporadic or as hereditary diseases in the context of familial syndromes, including multiple endocrine neoplasia 2A (MEN2A), multiple endocrine neoplasia 2B (MEN2B) and familial MTC (FMTC). In a large fraction of sporadic cases, and virtually in all inherited cases of MTC, activating point mutations of the RET proto-oncogene are found. RET encodes for a receptor tyrosine kinase protein endowed with transforming potential on thyroid parafollicular cells. As in other cancer types, microenvironmental factors play a critical role in MTC. Tumor-associated extracellular matrix, stromal cells and immune cells interact and influence the behavior of cancer cells both in a tumor-promoting and in a tumor-suppressing manner. Several studies have shown that, besides the neoplastic transformation of thyroid C-cells, a profound modification of tumor microenvironment has been associated to the RET FMTC/MEN2-associated oncoproteins. They influence the surrounding stroma, activating cancer-associated fibroblasts (CAFs), promoting cancer-associated inflammation and suppressing anti-cancer immune response. These mechanisms might be exploited to develop innovative anti-cancer therapies and novel prognostic tools in the context of familial, RET-associated MTC. © 2018 Society for Endocrinology.

  18. Neoplasia in Cri du Chat Syndrome from Italian and German Databases.

    Science.gov (United States)

    Guala, Andrea; Spunton, Marianna; Kalantari, Silvia; Kennerknecht, Ingo; Danesino, Cesare

    2017-01-01

    Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected. A neoplasia was present in four patients (age 10-50 yrs), and a fifth patient developed a cholesteatoma during childhood. It is of interest that two cases had an early onset of the neoplasia as compared to the expected age of development in the general population. The chromosome region deleted in 5p does not contain genes whose haploinsufficiency is a well-known main cause of the proliferative disorders observed. We nonetheless believe that reporting even sporadic cases of proliferative disorders in CdC patients may increase our knowledge as to the natural history of the disease. In conclusion, available information suggests that surveillance for cancer development in CdC can follow the guidelines for the general population.

  19. Neoplasia in Cri du Chat Syndrome from Italian and German Databases

    Directory of Open Access Journals (Sweden)

    Andrea Guala

    2017-01-01

    Full Text Available Cri du Chat syndrome (CdC is a chromosomal abnormality (deletion of short arm of chromosome 5 associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected. A neoplasia was present in four patients (age 10–50 yrs, and a fifth patient developed a cholesteatoma during childhood. It is of interest that two cases had an early onset of the neoplasia as compared to the expected age of development in the general population. The chromosome region deleted in 5p does not contain genes whose haploinsufficiency is a well-known main cause of the proliferative disorders observed. We nonetheless believe that reporting even sporadic cases of proliferative disorders in CdC patients may increase our knowledge as to the natural history of the disease. In conclusion, available information suggests that surveillance for cancer development in CdC can follow the guidelines for the general population.

  20. Psychological effects of diagnosis and treatment of cervical intraepithelial neoplasia

    DEFF Research Database (Denmark)

    Frederiksen, Maria Eiholm; Njor, Sisse; Lynge, Elsebeth

    2015-01-01

    statistical testing, we estimated the statistical significance of the differences between the compared groups using unpaired t tests. MAIN RESULTS: From 5099 retrieved abstracts, 16 studies were included. Diagnosis and treatment of CIN were associated with worse psychological outcomes than normal cytology...... test results, but the impact decreased over time. In several but not all studies, CIN appeared to have similar psychological consequences to abnormal smears. No study showed a difference in psychological outcomes between CIN and cervical cancer diagnosis when these were measured some years after......BACKGROUND: Treatment of cervical intraepithelial neoplasia (CIN) is a common minor surgical procedure to prevent uterine cervical cancer. However, news of an abnormality detected at screening for cancer might cause the woman to worry. OBJECTIVES: To investigate the psychological consequences...

  1. Gastroenteropancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1

    Energy Technology Data Exchange (ETDEWEB)

    Tonelli, Francesco, E-mail: f.tonelli@dfc.unifi.it; Giudici, Francesco [Department of Clinical Physiopathology, Surgical Unit, Medical School, University of Florence, Largo Brambilla n° 3, Florence 50134 (Italy); Giusti, Francesca; Brandi, Maria Luisa [Department of Internal Medicine, Medical School and Regional Centre for Hereditary Endocrine Tumors, University of Florence, Largo Brambilla n° 3, Florence 50134 (Italy)

    2012-05-07

    We reviewed the literature about entero-pancreatic neuroendocrine tumors in Multiple Endocrine Neoplasia type 1 syndrome (MEN1) to clarify their demographic features, localization imaging, practice, and appropriate therapeutical strategies, analyzing the current approach to entero-pancreatic neuroendocrine tumors in MEN1. Despite the fact that hyperparathyroidism is usually the first manifestation of MEN1, the penetrance of these tumors is similar. They are characterized by multiplicity of lesions, variable expression of the tumors, and propensity for malignant degeneration. Both the histological type and the size of MEN1 neuroendocrine tumors correlate with malignancy. Monitoring of pancreatic peptides and use of imaging exams allow early diagnosis and prompt surgical treatment, resulting in prevention of metastatic disease and improvement of long-term survival. Surgery is often the treatment of choice for MEN1-neuroendocrine tumors. The rationale for surgical approach is to curtail malignant progression of the disease, and to cure the associated biochemical syndrome, should it be present.

  2. Gastroenteropancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1

    International Nuclear Information System (INIS)

    Tonelli, Francesco; Giudici, Francesco; Giusti, Francesca; Brandi, Maria Luisa

    2012-01-01

    We reviewed the literature about entero-pancreatic neuroendocrine tumors in Multiple Endocrine Neoplasia type 1 syndrome (MEN1) to clarify their demographic features, localization imaging, practice, and appropriate therapeutical strategies, analyzing the current approach to entero-pancreatic neuroendocrine tumors in MEN1. Despite the fact that hyperparathyroidism is usually the first manifestation of MEN1, the penetrance of these tumors is similar. They are characterized by multiplicity of lesions, variable expression of the tumors, and propensity for malignant degeneration. Both the histological type and the size of MEN1 neuroendocrine tumors correlate with malignancy. Monitoring of pancreatic peptides and use of imaging exams allow early diagnosis and prompt surgical treatment, resulting in prevention of metastatic disease and improvement of long-term survival. Surgery is often the treatment of choice for MEN1-neuroendocrine tumors. The rationale for surgical approach is to curtail malignant progression of the disease, and to cure the associated biochemical syndrome, should it be present

  3. Risk factors for sporadic ovarian cancer

    Directory of Open Access Journals (Sweden)

    M. M. Vysotsky

    2010-01-01

    Full Text Available The review of the literature on the problems of sporadic ovarian cancer details the present views of its disputable risk factors, such as dietary habits, body weight, contraception, and labor, and age of commencing a sexual activity. It discusses the dietary and sexual behavior model that has changed since the Neolithic, as well as the number of menses and ovulations throughout the reproductive peri- od. The works by authors dealing with the impact of smoking and alcohol consumption on the risk of ovarian cancer are analyzed.

  4. Papilomavírus humano e neoplasia cervical Human papillomavirus and cervical neoplasia

    Directory of Open Access Journals (Sweden)

    Maria Inês da Rosa

    2009-05-01

    Full Text Available O papilomavírus humano (HPV é um fator etiológico bem estabelecido para o câncer cervical. Esse vírus de DNA infecta primariamente o epitélio e pode induzir lesões benignas ou malignas na pele e na mucosa. Alguns HPVs são considerados de alto risco, responsáveis pela progressão das lesões precursoras até câncer cervical. A infecção genital pelo HPV é comum em mulheres jovens e geralmente é transitória. Uma pequena proporção de mulheres infectadas desenvolve câncer cervical, implicando o envolvimento de fatores ambientais e fatores genéticos na carcinogênese. Essa revisão aborda a estrutura viral, classificação e patologia do HPV, história natural e fatores de risco para neoplasia cervical e perspectivas futuras com a vacina anti-HPV.Human papillomavirus (HPV has been established as an important etiological factor for the development of cervical cancer. This DNA virus primarily infects the epithelium and can induce benign and malignant lesions of the mucous membranes and skin. Some HPVs are considered high risk due to their role in malignant progression of cervical tumors. Genital HPV infections are common and usually transient among young sexually active women. Only a small fraction of infected women develop cervical cancer, implying the involvement of environmental and genetic cofactors in cervical carcinogenesis. Classification, virology, pathology, natural history, epidemiological features of genital HPV infection, and future prospects for cervical cancer prevention with HPV vaccines will be reviewed here.

  5. Canine oral cavity neoplasias - Brief review

    Directory of Open Access Journals (Sweden)

    João Filipe Requicha

    2015-03-01

    Full Text Available ABSTRACT. Requicha J.F., Pires M. dos A., Albuquerque C.M. & Viegas C.A. [Canine oral cavity neoplasias - Brief review.] Neoplasias da cavidade oral do cão - Breve revisão. Revista Brasileira de Medicina Veterinária, 37(1:41-46, 2015. Faculdade de Medicina Veterinária, Universidade Lusófona de Humanidades e Tecnologias, Campo Grande, 1749-024 Lisboa, Portugal e Department of Veterinary Sciences, School of Agriculture and Veterinary Sciences, University of Trás-os-Montes e Alto Douro, P.O. Box 1013, 5001-801 Vila Real, Portugal. E-mail: jfrequicha@gmail.com Oral proliferative lesions are relatively common in domestic carnivores but, fortunately, a lot of these lesions are benign. The oral cavity is place of 6% of all tumours in dogs, being the sixth most important localization of neoplasias in this specie. The non-odontogenic tumors arise from structures of the oral cavity, except from dental tissue, and they are mostly malignant. Odontogenic tumors are those originated from the dental structures. In the case of tumors of non-odontogenic, will be described the oral papillomatosis, the melanoma, the squamous cell carcinoma, and the fibrosarcoma. Among the odontogenic tumors, the focus will be on the epulides, ameloblastoma, odontoma and dentigerous cysts.

  6. Germ cell neoplasia in situ (GCNIS)

    DEFF Research Database (Denmark)

    Berney, Daniel M; Looijenga, Leendert H J; Idrees, Muhammad

    2016-01-01

    The pre-invasive lesion associated with post-pubertal malignant germ cell tumours of the testis was first recognized in the early 1970s and confirmed by a number of observational and follow-up studies. Until this year, this scientific story has been confused by resistance to the entity and disagr......The pre-invasive lesion associated with post-pubertal malignant germ cell tumours of the testis was first recognized in the early 1970s and confirmed by a number of observational and follow-up studies. Until this year, this scientific story has been confused by resistance to the entity...... and disagreement on its name. Initially termed 'carcinoma in situ' (CIS), it has also been known as 'intratubular germ cell neoplasia, unclassified' (IGCNU) and 'testicular intraepithelial neoplasia' (TIN). In this paper, we review the history of discovery and controversy concerning these names and introduce...... the reasoning for uniting behind a new name, endorsed unanimously at the World Health Organization (WHO) consensus classification 2016: germ cell neoplasia in situ (GCNIS)....

  7. Aberrant gene promoter methylation associated with sporadic multiple colorectal cancer.

    Directory of Open Access Journals (Sweden)

    Victoria Gonzalo

    difference in any evaluated gene. CONCLUSIONS: These results provide a proof-of-concept that gene promoter methylation is associated with tumor multiplicity. This underlying epigenetic defect may have noteworthy implications in the prevention of patients with sporadic CRC.

  8. Early Detection of Sporadic Pancreatic Cancer

    Science.gov (United States)

    Kenner, Barbara J.; Chari, Suresh T.; Cleeter, Deborah F.; Go, Vay Liang W.

    2015-01-01

    Abstract Innovation leading to significant advances in research and subsequent translation to clinical practice is urgently necessary in early detection of sporadic pancreatic cancer. Addressing this need, the Early Detection of Sporadic Pancreatic Cancer Summit Conference was conducted by Kenner Family Research Fund in conjunction with the 2014 American Pancreatic Association and Japan Pancreas Society Meeting. International interdisciplinary scientific representatives engaged in strategic facilitated conversations based on distinct areas of inquiry: Case for Early Detection: Definitions, Detection, Survival, and Challenges; Biomarkers for Early Detection; Imaging; and Collaborative Studies. Ideas generated from the summit have led to the development of a Strategic Map for Innovation built upon 3 components: formation of an international collaborative effort, design of an actionable strategic plan, and implementation of operational standards, research priorities, and first-phase initiatives. Through invested and committed efforts of leading researchers and institutions, philanthropic partners, government agencies, and supportive business entities, this endeavor will change the future of the field and consequently the survival rate of those diagnosed with pancreatic cancer. PMID:25938853

  9. Risk factors for colorectal neoplasia in persons aged 30 to 39 years and 40 to 49 years.

    Science.gov (United States)

    Jung, Yoon Suk; Ryu, Seungho; Chang, Yoosoo; Yun, Kyung Eun; Park, Jung Ho; Kim, Hong Joo; Cho, Yong Kyun; Sohn, Chong Il; Jeon, Woo Kyu; Kim, Byung Ik; Park, Dong Il

    2015-03-01

    Very little is known about risk factors associated with colorectal neoplasia in persons aged 49 years and to compare those data with those of persons aged 50 to 59 years. Cross-sectional observational study. Screening center in a university hospital in Korea. A cohort of 28,504 Korean adults (13,678 aged 30-39 years, 12,507 aged 40-49 years, and 2319 aged 50-59 years) who underwent colonoscopy as part of their routine preventive health care. Colonoscopy. Risk factors for colorectal neoplasia in persons aged 30 to 39 years and 40 to 49 years. In the 30-to-39-years group, male sex, smoking, fatty liver, metabolic syndrome (MetS), obesity, elevated fasting blood glucose levels, and elevated triglyceride levels were associated with overall neoplasia, whereas for advanced neoplasia, the independent risk factors were smoking, fatty liver, and elevated triglyceride levels. Moreover, the prevalence of overall neoplasia in men aged 30 to 39 years exhibiting all risk factors was not lower than that in average-risk women aged >50 years (20.8% vs 18.8%; P = .546). The risk factors of overall neoplasia in the 40-to-49-years group were similar to those in the 30-to-39-years group. For advanced neoplasia, the independent risk factors in the 40-to-49-years group were male sex, smoking, MetS, and obesity. Selection bias may exist for participants of ethnic Korean heritage in 2 centers. Obese male smokers with fatty liver and MetS might benefit from screening colonoscopy starting before age 50 years. Copyright © 2015 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.

  10. Tumour suppressor genes in sporadic epithelial ovarian cancer

    DEFF Research Database (Denmark)

    Liu, Ying; Ganesan, Trivadi S

    2002-01-01

    Ovarian cancer is the most frequent cause of death from gynaecological malignancies in the western world, and sporadic epithelial ovarian cancer is its most predominant form. The aetiology of sporadic ovarian cancer remains unknown. Genetic studies have enabled a better understanding...... of the evolution of tumour progression. A major focus of research has been to identify tumour suppressor genes implicated in sporadic ovarian cancer over the past decade. Several tumour suppressor genes have been identified by strategies such as positional cloning and differential expression display. Further...... research is warranted to understand fully their contribution to the pathogenesis of sporadic ovarian cancer....

  11. Outcomes from a prospective trial of endoscopic radiofrequency ablation of early squamous cell neoplasia of the esophagus

    NARCIS (Netherlands)

    Bergman, Jacques J. G. H. M.; Zhang, Yue-Ming; He, Shun; Weusten, Bas; Xue, Liyan; Fleischer, David E.; Lu, Ning; Dawsey, Sanford M.; Wang, Gui-Qi

    2011-01-01

    Radiofrequency ablation (RFA) is safe and effective for eradicating neoplasia in Barrett's esophagus. To evaluate RFA for eradicating early esophageal squamous cell neoplasia (ESCN) defined as moderate-grade squamous intraepithelial neoplasia (MGIN) and high-grade squamous intraepithelial neoplasia

  12. Prevention

    Science.gov (United States)

    ... Error processing SSI file About Heart Disease & Stroke Prevention Heart disease and stroke are an epidemic in ... secondhand smoke. Barriers to Effective Heart Disease & Stroke Prevention Many people with key risk factors for heart ...

  13. MRI of sporadic Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    Kong, A.; Vliet, A. Van der.

    2008-01-01

    Full text: The key MRI findings in five cases of sporadic Creutzfeldt-Jakob disease (CJD) are illustrated with four 'definite' and one 'probable' according to World Health Organization criteria. Close attention to fluid-attenuation inversion recovery and diffusion-weighted imaging sequences are important for diagnosis, noting especially restricted diffusion in cortical and deep grey matter. Our study and those of others show predominant cortical, caudate and thalamic involvement. This pattern is highly sensitive and specific for the diagnosis. Fluid-attenuation inversion recovery and diffusion-weighted imaging signal abnormality becomes progressively more extensive and bilateral as disease progresses, but may become less pronounced in end-stage disease because of atrophy.

  14. Spectrum of ocular surface squamous neoplasia.

    Science.gov (United States)

    Babar, Tariq Farooq; Khan, Mohammad Naeem; Hussain, Mahfooz; Shah, Shafaqat Ali; Khan, Mohammad Younas; Khan, Mohammad Daud

    2007-06-01

    To describe the pattern of ocular surface squamous neoplasia (OSSN), clinical presentations, the risk factors and treatment options. An observational case series. Khyber Institute of Ophthalmic Medical Sciences, Hayatabad Medical Complex, Peshawar, from April 2003 till August 2006. The study included 36 eyes of 35 patients with biopsy-proven ocular surface neoplasia. The details of patients regarding age, gender, laterality and risk factors were entered into a specially-designed proforma. Each patient was also assessed biomicroscopically for type and complications of ocular surface neoplasia. The frequency of OSSN was 0.37 among admitted hospital patients. Among 36 cases of OSSN, squamous cell carcinoma of the conjunctiva was the most common type of OSSN seen in 63.9%, followed by carcinoma in situ of conjunctiva in 25% and carcinoma in situ of cornea in 11.1%. Male patients outnumbered female (65.7% vs 34.3%) with 71.42% of patients above 60 years of age. The risk factors identified were: old age, ultraviolet B exposure and xeroderma pigmentosa. Treatment consisted of local resection with or without adjuvant therapy in 61.1%, exenteration in 30.5%, enucleation in 5.5% and chemo/radiotherapy in 2.7%. Intraocular invasion was seen in 5.5% and orbital spread in 30.5%. The frequency of OSSN was 0.37% among admitted patients. Identification of exact etiological factors will enable to formulate strategies that are likely to decrease the incidence of this disease and the associated morbidity and mortality.

  15. Dietary factors and microsatellite instability in sporadic colon carcinomas

    NARCIS (Netherlands)

    Diergaarde, B.; Braam, H.; Muijen, van G.N.P.; Ligtenberg, M.J.L.; Kok, F.J.; Kampman, E.

    2003-01-01

    Microsatellite instability (MSI) occurs in 10-20% of the sporadic colon carcinomas and appears to be primarily due to alterations in hMLH1 and hMSH2. Little is known about the role of diet in MSI-related colon carcinogenesis. We used data from a Dutch population-based case-control study on sporadic

  16. New Developments in Ocular Surface Squamous Neoplasia

    Directory of Open Access Journals (Sweden)

    Ayşe Yağcı

    2014-09-01

    Full Text Available Ocular surface squamous neoplasia originates from conjunctiva epithelium and covers a broad spectrum of disease ranging from dysplasia to squamous cell carcinoma. Clinical features may vary from case to case. Traditional treatment of excision with no-touch technique combined with adjuvant therapies because of high recurrence rate. Main adjuvant treatments are cryotherapy and chemotherapy. In this review, clinical forms, differential diagnosis, American Joint Committee on Cancer classification and recent approaches to the management of ocular surface squamous dysplasia were described. (Turk J Ophthalmol 2014; 44: Supplement 8-14

  17. What is your diagnosis? [Intestinal neoplasia

    International Nuclear Information System (INIS)

    Uehlinger, P.; Glaus, T.; Stoeckli, R.; Flueckiger, M.; Leuch, F.

    1997-01-01

    Iron lack anemia due to chronic blood loss was diagnosed in a 12-year-old dog. Clinical abnormalities included weakness and episodic vomiting. Typical hematological abnormalities were moderate regenerative anemia (Hct 21 %) and microcytosis (MCV 39 fl.). Chronic occult blood loss in adult dogs most commonly occurs in the gastrointestinal tract, associated with ulcus or neoplasia. Possible diagnostic steps include radiographs, abdominal ultrasound, gastroduodenoscopy, and exploratory laparotomy. In the present case gastric and duodenal adenocarcinomata were found during necropsy, confirming the clinical suspicion of a bleeding gastrointestinal malignancy

  18. Mamary neoplasia in a closed beagle colony

    International Nuclear Information System (INIS)

    Taylor, G.N.; Shabestari, L.; Williams, J.; Mays, C.W.; Angus, W.; McFarland, S.

    1975-01-01

    The incidence rate of mammary neoplasia in a large colony of beagles and its relationship to internal skeletal and/or liver radiation, age, relatively late ovariectomy (4 years and older), endometritis, parity status, and adrenal weight was examined. Of these various factors, age was the only condition that was clearly correlated with changes in the mammary tumor incidence. The rate became significant at approximately eight years of age and increased progressively throughout the successively older age classes. Within the female dogs, the incidence of mammary cancer was higher that that of any other form of spontaneous malignancy

  19. [Diagnosis and grading of cervical intraepithelial neoplasias].

    Science.gov (United States)

    Rosamilia, C; Feichter, G; Tzankov, A; Obermann, E C

    2012-03-01

    Diagnosing and grading of cervical intraepithelial neoplasias (CIN) are part of the routine practice of pathologists. However, discriminating between reactive changes and CIN1 and determining the different degrees of CIN may be challenging. Aim of this study was the evaluation of the proliferation markers Ki-67 and Mcm2 as well as p16 for their potential to aid in the assessment of CIN. 297 samples of normal epithelium, CIN1, CIN2, and CIN3 were assessed for expression of the above mentioned markers using tissue microarrays. There was an increase in the expression of Ki67 and Mcm2 from normal epithelium, CIN1, CIN2 to CIN3 (pneoplasia.

  20. Molecular signatures of thyroid follicular neoplasia

    DEFF Research Database (Denmark)

    Borup, R.; Rossing, M.; Henao, Ricardo

    2010-01-01

    The molecular pathways leading to thyroid follicular neoplasia are incompletely understood, and the diagnosis of follicular tumors is a clinical challenge. To provide leads to the pathogenesis and diagnosis of the tumors, we examined the global transcriptome signatures of follicular thyroid...... a mechanism for cancer progression, which is why we exploited the results in order to generate a molecular classifier that could identify 95% of all carcinomas. Validation employing public domain and cross-platform data demonstrated that the signature was robust and could diagnose follicular nodules...... and robust genetic signature for the diagnosis of FA and FC. Endocrine-Related Cancer (2010) 17 691-708...

  1. Plasma proteome analysis of cervical intraepithelial neoplasia and ...

    Indian Academy of Sciences (India)

    Prakash

    is preceded by dysplasia that is also described as cervical intraepithelial neoplasia (CIN) or ... 3Department of Clinical Oral Biology, Faculty of Dentistry;. 4Department of ... cELISA, competitive ELISA; CIN, cervical intraepithelial neoplasia; FIGO, Federation of International Gynecologists and Obstetricians;. HRP, horseradish ...

  2. Primary pulmonary neoplasia in the dog and cat

    International Nuclear Information System (INIS)

    Mehlhaff, C.J.; Mooney, S.

    1985-01-01

    This article covers the pertinent clinical, physical, and radiographic findings in dogs and cats with primary pulmonary neoplasia. Diagnostic and treatment recommendations are made. Although primary pulmonary neoplasia is rare in both the dog and cat, it appears to be diagnosed with increasing frequency. Early detection and surgical treatment of carefully selected cases can prolong a good quality of life

  3. Molecular diagnosis of multiple endocrine neoplasia type 2A ...

    African Journals Online (AJOL)

    Molecular diagnosis of multiple endocrine neoplasia type 2A. RJ Pegoraro, DJ Hacking, RH Buck, L Rom, PA Lanning, GMB Berger. Abstract. Objective. To identify by means of genetic analyses individuals who are at risk of developing medullary thyroid cancer that is a component of multiple endocrine neoplasia. Subjects.

  4. A molecular analysis by gene expression profiling reveals Bik/NBK overexpression in sporadic breast tumor samples of Mexican females

    International Nuclear Information System (INIS)

    García, Normand; Salamanca, Fabio; Astudillo-de la Vega, Horacio; Curiel-Quesada, Everardo; Alvarado, Isabel; Peñaloza, Rosenda; Arenas, Diego

    2005-01-01

    Breast cancer is one of the most frequent causes of death in Mexican women over 35 years of age. At molecular level, changes in many genetic networks have been reported as associated with this neoplasia. To analyze these changes, we determined gene expression profiles of tumors from Mexican women with breast cancer at different stages and compared these with those of normal breast tissue samples. 32 P-radiolabeled cDNA was synthesized by reverse transcription of mRNA from fresh sporadic breast tumor biopsies, as well as normal breast tissue. cDNA probes were hybridized to microarrays and expression levels registered using a phosphorimager. Expression levels of some genes were validated by real time RT-PCR and immunohistochemical assays. We identified two subgroups of tumors according to their expression profiles, probably related with cancer progression. Ten genes, unexpressed in normal tissue, were turned on in some tumors. We found consistent high expression of Bik gene in 14/15 tumors with predominant cytoplasmic distribution. Recently, the product of the Bik gene has been associated with tumoral reversion in different neoplasic cell lines, and was proposed as therapy to induce apoptosis in cancers, including breast tumors. Even though a relationship among genes, for example those from a particular pathway, can be observed through microarrays, this relationship might not be sufficient to assign a definitive role to Bik in development and progression of the neoplasia. The findings herein reported deserve further investigation

  5. Pancreatic paracoccidioidomycosis simulating malignant neoplasia: case report.

    Science.gov (United States)

    Lima, Talles Bazeia; Domingues, Maria Aparecida Custódio; Caramori, Carlos Antonio; Silva, Giovanni Faria; de Oliveira, Cássio Vieira; Yamashiro, Fábio da Silva; Franzoni, Letícia de Campos; Sassaki, Lígia Yukie; Romeiro, Fernando Gomes

    2013-09-14

    Paracoccidioidomycosis is a systemic granulomatous disease caused by fungus, and must be considered in the differential diagnosis of intra-abdominal tumors in endemic areas. We report a rare case of paracoccidioidomycosis in the pancreas. A 45-year-old man was referred to our institution with a 2-mo history of epigastric abdominal pain that was not diet-related, with night sweating, inappetence, weight loss, jaundice, pruritus, choluria, and acholic feces, without signs of sepsis or palpable tumors. Abdominal ultrasonography (US) showed a solid mass of approximately 7 cm × 5.5 cm on the pancreas head. Abdominal computerized tomography showed dilation of the biliary tract, an enlarged pancreas (up to 4.5 in the head region), with dilation of the major pancreatic duct. The patient underwent exploratory laparotomy, and the surgical description consisted of a tumor, measuring 7 to 8 cm with a poorly-defined margin, adhering to posterior planes and mesenteric vessels, showing an enlarged bile duct. External drainage of the biliary tract, Roux-en-Y gastroenteroanastomosis, lymph node excision, and biopsies were performed, but malignant neoplasia was not found. Microscopic analysis showed chronic pancreatitis and a granulomatous chronic inflammatory process in the choledochal lymph node. Acid-alcohol resistant bacillus and fungus screening were negative. Fine-needle aspiration of the pancreas was performed under US guidance. The smear was compatible with infection by Paracoccidioides brasiliensis. We report a rare case of paracoccidioidomycosis simulating a malignant neoplasia in the pancreas head.

  6. Radiological signs of bone infection and neoplasia

    International Nuclear Information System (INIS)

    Gibbs, C.

    1994-01-01

    Infection of equine bone is relatively common but neoplasia is rare. Infective organisms can center bone by direct contamination through penetrating wounds, spreads from adjacent infected structures or via the circulation as a consequence of septicaemic illness. Heamatogenous osteomyelitis is most likely to occur in young foals, but it has been suggested that in conjuction with a compromise in the vascular supply, bacteraemia may be a contributory factor to the pathogenesis of osteomyelitis of the proximal sesamoid bones in adult horses (Wisner et al. 1991). The radiographic changes associated with bone infection and neoplasia are often neither specific nor definitive. This is because bone has only a limited capacity to react to pathological insult, which is either to proliferate or be resorbed. The proportions in which these two processes occur and the resulting radiographic patterns which develop are as likely to be a reflection of the site of the lesion and the anatomy of the bone involved as to the type of disease which causes them. This means that radiological signs of bone disturbance should always be interpreted in conjuction with all other clinical information available

  7. Psychosocial stress and cervical neoplasia risk.

    Science.gov (United States)

    Coker, Ann L; Bond, Sharon; Madeleine, Margaret M; Luchok, Kathryn; Pirisi, Lucia

    2003-01-01

    We assessed the association between psychosocial stress and preinvasive cervical neoplasia development controlling for HR-HPV infection. This case-control study enrolled low-income women receiving family planning services at health department clinics. There were 59 cases with biopsy confirmed HSIL and 163 with low-grade SIL and 160 controls with normal cervical cytology. A modified SLE scale was used to measure stressful events and the perceived impact of the event in the prior 5 years. Unconditional logistic regression was used to assess SIL risk and stressful events scores and by subscales. After adjusting for age, HR-HPV infection, and lifetime number of sex partners, the SLE count score was associated with an increased risk of SIL among white women (aOR = 1.20; 95% CI = 1.04, 1.38) yet not among African American women (aOR = 1.02; 95% CI = 0.87, 1.19). The relationship stress subscale (divorce, infidelity, an increase in the number of arguments, and psychological and physical partner violence) was the only one of four subscales (loss, violence, and financial stress) associated with SIL, again, only among white women (aOR = 1.54; 95% CI = 1.21, 1.96). These data suggest that psychosocial stress may play a role in SIL development. Future studies are needed to confirm these findings, to explore racial difference in reporting stress, and to explore the mechanism through which psychosocial stress may affect cervical neoplasia risk.

  8. GLUT-1 Expression in Pancreatic Neoplasia

    Science.gov (United States)

    Basturk, Olca; Singh, Rajendra; Kaygusuz, Ecmel; Balci, Serdar; Dursun, Nevra; Culhaci, Nil; Adsay, N. Volkan

    2011-01-01

    Objectives GLUT-1 has been found to have an important role in the upregulation of various cellular pathways and implicated in neoplastic transformation correlating with biological behavior in malignancies. However, literature regarding the significance of GLUT-1 expression in pancreatic neoplasia has been limited and controversial. Methods Immunohistochemical expression of GLUT-1 was tested in a variety of pancreatic neoplasia including ductal adenocarcinomas (DAs), pancreatic intraepithelial neoplasms (PanINs), intraductal papillary mucinous neoplasms (IPMNs), and serous cystadenomas. Results There was a progressive increase in the expression of GLUT-1 from low- to higher-grade dysplastic lesions: All higher-grade PanINs/IPMNs (the ones with moderate/high-grade dysplasia) revealed noticeable GLUT-1 expression. Among the 94 DAs analyzed, there were minimal/moderate expression in 46 and significant expression in 24 DAs. However, all 4 clear-cell variants of DAs revealed significant GLUT-1 immunolabeling, as did areas of clear-cell change seen in other DAs. Moreover, all 12 serous cystadenomas expressed significant GLUT-1. GLUT-1 expression was also directly correlated with DA histological grade (P = 0.016) and tumor size (P = 0.03). Conclusions GLUT-1 may give rise to the distinctive clear-cell appearance of these tumors by inducing the accumulation of glycogen in the cytoplasm. Additionally, because GLUT-1 expression was related to histological grade and tumor size of DA, further studies are warranted to investigate the association of GLUT-1 with prognosis and tumor progression. PMID:21206329

  9. Solid tumors associated with multiple endocrine neoplasias.

    Science.gov (United States)

    Almeida, Madson Q; Stratakis, Constantine A

    2010-11-01

    We present an update on molecular and clinical genetics of solid tumors associated with the various multiple endocrine neoplasias (MEN) syndromes. MEN type 1 (MEN1) describes the association of pituitary, parathyroid, and pancreatic islet cell tumors with a variety of many other lesions. MEN type 2 (MEN2) conditions represent at least four different syndromes that associate pheochromocytoma with medullary thyroid carcinoma, hyperparathyroidism, and a number of other manifestations. Other pheochromocytoma-associated syndromes include von Hippel-Lindau disease; neurofibromatosis 1; the recently defined paraganglioma syndromes type 1, 3, and 4; Carney-Stratakis syndrome; and the Carney triad. Carney-Stratakis syndrome is characterized by the association of paragangliomas and familial gastrointestinal stromal tumors. In the Carney triad, patients can manifest gastrointestinal stromal tumors, lung chondroma, paraganglioma, adrenal adenoma and pheochromocytoma, esophageal leiomyoma, and other conditions. The Carney complex is yet another form of MEN that is characterized by skin tumors and pigmented lesions, myxomas, schwannomas, and various endocrine neoplasias. Copyright © 2010 Elsevier Inc. All rights reserved.

  10. Sporadic aurorae observed in East Asia

    Directory of Open Access Journals (Sweden)

    D. M. Willis

    2007-03-01

    Full Text Available All the accessible auroral observations recorded in Chinese and Japanese histories during the interval AD 1840–1911 are investigated in detail. Most of these auroral records have never been translated into a Western language before. The East Asian auroral reports provide information on the date and approximate location of each auroral observation, together with limited scientific information on the characteristics of the auroral luminosity such as colour, duration, extent, position in the sky and approximate time of occurrence. The full translations of the original Chinese and Japanese auroral records are presented in an appendix, which contains bibliographic details of the various historical sources. (There are no known reliable Korean observations during this interval. A second appendix discusses a few implausible "auroral" records, which have been rejected. The salient scientific properties of all exactly dated and reliable East Asian auroral observations in the interval AD 1840–1911 are summarised succinctly. By comparing the relevant scientific information on exactly dated auroral observations with the lists of great geomagnetic storms compiled by the Royal Greenwich Observatory, and also the tabulated values of the Ak (Helsinki and aa (Greenwich and Melbourne magnetic indices, it is found that 5 of the great geomagnetic storms (aa>150 or Ak>50 during either the second half of the nineteenth century or the first decade of the twentieth century are clearly identified by extensive auroral displays observed in China or Japan. Indeed, two of these great storms produced auroral displays observed in both countries on the same night. Conversely, at least 29 (69% of the 42 Chinese and Japanese auroral observations occurred at times of weak-to-moderate geomagnetic activity (aa or Ak≤50. It is shown that these latter auroral displays are very similar to the more numerous (about 50 examples of sporadic aurorae observed in the United States

  11. Sporadic aurorae observed in East Asia

    Directory of Open Access Journals (Sweden)

    D. M. Willis

    2007-03-01

    Full Text Available All the accessible auroral observations recorded in Chinese and Japanese histories during the interval AD 1840–1911 are investigated in detail. Most of these auroral records have never been translated into a Western language before. The East Asian auroral reports provide information on the date and approximate location of each auroral observation, together with limited scientific information on the characteristics of the auroral luminosity such as colour, duration, extent, position in the sky and approximate time of occurrence. The full translations of the original Chinese and Japanese auroral records are presented in an appendix, which contains bibliographic details of the various historical sources. (There are no known reliable Korean observations during this interval. A second appendix discusses a few implausible "auroral" records, which have been rejected. The salient scientific properties of all exactly dated and reliable East Asian auroral observations in the interval AD 1840–1911 are summarised succinctly. By comparing the relevant scientific information on exactly dated auroral observations with the lists of great geomagnetic storms compiled by the Royal Greenwich Observatory, and also the tabulated values of the Ak (Helsinki and aa (Greenwich and Melbourne magnetic indices, it is found that 5 of the great geomagnetic storms (aa>150 or Ak>50 during either the second half of the nineteenth century or the first decade of the twentieth century are clearly identified by extensive auroral displays observed in China or Japan. Indeed, two of these great storms produced auroral displays observed in both countries on the same night. Conversely, at least 29 (69% of the 42 Chinese and Japanese auroral observations occurred at times of weak-to-moderate geomagnetic activity (aa or Ak≤50. It is shown that these latter auroral displays are very similar to the more numerous (about 50 examples of sporadic

  12. Sporadic naturally occurring melanoma in dogs as a preclinical model for human melanoma.

    Science.gov (United States)

    Simpson, R Mark; Bastian, Boris C; Michael, Helen T; Webster, Joshua D; Prasad, Manju L; Conway, Catherine M; Prieto, Victor M; Gary, Joy M; Goldschmidt, Michael H; Esplin, D Glen; Smedley, Rebecca C; Piris, Adriano; Meuten, Donald J; Kiupel, Matti; Lee, Chyi-Chia R; Ward, Jerrold M; Dwyer, Jennifer E; Davis, Barbara J; Anver, Miriam R; Molinolo, Alfredo A; Hoover, Shelley B; Rodriguez-Canales, Jaime; Hewitt, Stephen M

    2014-01-01

    Melanoma represents a significant malignancy in humans and dogs. Different from genetically engineered models, sporadic canine melanocytic neoplasms share several characteristics with human disease that could make dogs a more relevant preclinical model. Canine melanomas rarely arise in sun-exposed sites. Most occur in the oral cavity, with a subset having intra-epithelial malignant melanocytes mimicking the in situ component of human mucosal melanoma. The spectrum of canine melanocytic neoplasia includes benign lesions with some analogy to nevi, as well as invasive primary melanoma, and widespread metastasis. Growing evidence of distinct subtypes in humans, differing in somatic and predisposing germ-line genetic alterations, cell of origin, epidemiology, relationship to ultraviolet radiation and progression from benign to malignant tumors, may also exist in dogs. Canine and human mucosal melanomas appear to harbor BRAF, NRAS, and c-kit mutations uncommonly, compared with human cutaneous melanomas, although both species share AKT and MAPK signaling activation. We conclude that there is significant overlap in the clinical and histopathological features of canine and human mucosal melanomas. This represents opportunity to explore canine oral cavity melanoma as a preclinical model. © 2013 The Authors. Pigment Cell & Melanoma Research published by John Wiley & Sons Ltd.

  13. Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: A case control study

    Directory of Open Access Journals (Sweden)

    Friedrichs Nicolaus

    2008-07-01

    Full Text Available Abstract Background The genetics of sporadic and non-syndromic familial colorectal cancer (CRC is not well defined. However, genetic factors that promote the development of precursor lesions, i.e. adenomas, might also predispose to CRC. Recently, an association of colorectal adenoma with two variants (c.507C>T;p.L169L and c.511G>T;p.A171S of the ileal sodium dependent bile acid transporter gene (SLC10A2 has been reported. Here, we reconstructed haplotypes of the SLC10A2 gene locus and tested for association with non-syndromic familial and sporadic CRC compared to 'hyper-normal' controls who displayed no colorectal polyps on screening colonoscopy. Methods We included 150 patients with sporadic CRC, 93 patients with familial CRC but exclusion of familial adenomatous polyposis and Lynch's syndrome, and 204 'hyper-normal' controls. Haplotype-tagging SLC10A2 gene variants were identified in the Hapmap database and genotyped using PCR-based 5' exonuclease assays with fluorescent dye-labelled probes. Haplotypes were reconstructed using the PHASE algorithm. Association testing was performed with both SNPs and reconstructed haplotypes. Results Minor allele frequencies of all SLC10A2 polymorphisms are within previously reported ranges, and no deviations from Hardy-Weinberg equilibrium are observed. However, we found no association with any of the SLC10A2 haplotypes with sporadic or familial CRC in our samples (all P values > 0.05. Conclusion Common variants of the SLC10A2 gene are not associated with sporadic or familial CRC. Hence, albeit this gene might be associated with early stages of colorectal neoplasia, it appears not to represent a major risk factor for progression to CRC.

  14. Prevention

    Science.gov (United States)

    ... Contact Aging & Health A to Z Find a Geriatrics Healthcare Professional Medications & Older Adults Making Your Wishes ... Prevention Hearing Loss Heart Attack High Blood Pressure Nutrition Osteoporosis Shingles Skin Cancer Related News Quitting Smoking, ...

  15. Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

    Directory of Open Access Journals (Sweden)

    Yonneau Laurent

    2010-12-01

    Full Text Available Abstract Background Germline mutations in the folliculin (FLCN gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS, a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias. The majority of renal tumors that arise in BHDS-affected individuals are histologically similar to sporadic chromophobe renal cell carcinoma (RCC and sporadic renal oncocytoma. However, most sporadic tumors lack FLCN mutations and the extent to which the BHDS-derived renal tumors share genetic defects associated with the sporadic tumors has not been well studied. Methods BHDS individuals were identified symptomatically and FLCN mutations were confirmed by DNA sequencing. Comparative gene expression profiling analyses were carried out on renal tumors isolated from individuals afflicted with BHDS and a panel of sporadic renal tumors of different subtypes using discriminate and clustering approaches. qRT-PCR was used to confirm selected results of the gene expression analyses. We further analyzed differentially expressed genes using gene set enrichment analysis and pathway analysis approaches. Pathway analysis results were confirmed by generation of independent pathway signatures and application to additional datasets. Results Renal tumors isolated from individuals with BHDS showed distinct gene expression and cytogenetic characteristics from sporadic renal oncocytoma and chromophobe RCC. The most prominent molecular feature of BHDS-derived kidney tumors was high expression of mitochondria-and oxidative phosphorylation (OXPHOS-associated genes. This mitochondria expression phenotype was associated with deregulation of the PGC-1α-TFAM signaling axis. Loss of FLCN expression across various tumor types is also associated with increased nuclear mitochondrial gene expression. Conclusions Our results support a genetic distinction between BHDS-associated tumors and other renal

  16. The Danish National Chronic Myeloid Neoplasia Registry

    DEFF Research Database (Denmark)

    Bak, Marie; Ibfelt, Else Helene; Stauffer Larsen, Thomas

    2016-01-01

    myeloproliferative neoplasms, chronic myelomonocytic leukemia, and chronic myeloid leukemia. MAIN VARIABLES: Data are collected using standardized registration forms (so far up to four forms per patient), which are consecutively filled out online at time of diagnosis, after 2-year and 5-year follow-ups, and at end......AIM: The Danish National Chronic Myeloid Neoplasia Registry (DCMR) is a population-based clinical quality database, introduced to evaluate diagnosis and treatment of patients with chronic myeloid malignancies. The aim is to monitor the clinical quality at the national, regional, and hospital...... of follow-up. The forms include variables that describe clinical/paraclinical assessments, treatment, disease progression, and survival - disease-specific variables - as well as variables that are identical for all chronic myeloid malignancies. DESCRIPTIVE DATA: By the end of 2014, the DCMR contained data...

  17. Dermatologic symptoms associated with gastrointestinal neoplasia

    Directory of Open Access Journals (Sweden)

    Beata Młynarczyk-Bonikowska

    2017-03-01

    Full Text Available Gastrointestinal tumors are among the most common neoplastic causes of death worldwide. Presence of characteristic skin lesions can allow faster diagnosis and therapy and this way can increase the probability of a cure. In the paper we present the most important paraneoplastic syndromes that can coexist with gastrointestinal malignancy including colon, gastric, esophagus and pancreatic cancers. We take into account genetic syndromes such as Cowden syndrome, familial atypical multiple mole melanoma syndrome (FAMMM (melanoma/pancreatic cancer, Clarke Howel-Evans, Peutz-Jeghers, Muir-Torre, Gardner syndromes and acquired syndromes such as acantosis nigricans maligna, tripe palms, Leser-Trelat, Bazex, hypertrichosis languinosa, erythema gyratum repens , carcinoid and glucagonoma syndrome. We also include cutaneous metastases and coexistence of neoplasia in some cases of dermatomyositis.

  18. Management of hemopoietic neoplasias during pregnancy.

    Science.gov (United States)

    Paydas, Semra

    2016-08-01

    Hemopoietic neoplasias are unique cancers generally affecting bone marrow, and requires a special attention for disease control and also their complications. When these neoplastic disorders accompany to pregnancy there are many risks both for mother and foetus. Diagnostic difficulties due to the limited use of imaging modalities is essential in pregnant women. On the other hand suboptimal using of the anti-neoplastic drugs and their higher toxicity in mother and foetus must be considered in the management of these neoplastic disorders. Due to the lack of therapeutic guidelines in these cases, team approach is essential and therapy requires to the use the art of medicine. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  19. The evolving genetic risk for sporadic ALS.

    Science.gov (United States)

    Gibson, Summer B; Downie, Jonathan M; Tsetsou, Spyridoula; Feusier, Julie E; Figueroa, Karla P; Bromberg, Mark B; Jorde, Lynn B; Pulst, Stefan M

    2017-07-18

    To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)-associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity. Whole exome sequencing and repeat expansion PCR of C9orf72 and ATXN2 were performed on 87 patients of European ancestry with SALS seen at the University of Utah. DNA variants that change the protein coding sequence of 31 ALS-associated genes were annotated to determine which were rare and deleterious as predicted by MetaSVM. The percentage of patients with SALS with a rare and deleterious variant or repeat expansion in an ALS-associated gene was calculated. An odds ratio analysis was performed comparing the burden of ALS-associated genes in patients with SALS vs 324 normal controls. Nineteen rare nonsynonymous variants in an ALS-associated gene, 2 of which were found in 2 different individuals, were identified in 21 patients with SALS. Further, 5 deleterious C9orf72 and 2 ATXN2 repeat expansions were identified. A total of 17.2% of patients with SALS had a rare and deleterious variant or repeat expansion in an ALS-associated gene. The genetic burden of ALS-associated genes in patients with SALS as predicted by MetaSVM was significantly higher than in normal controls. Previous analyses have identified SALS-predisposing variants only in terms of their rarity in normal control populations. By incorporating variant pathogenicity as well as variant frequency, we demonstrated that the genetic risk contributed by these genes for SALS is substantially lower than previous estimates. © 2017 American Academy of Neurology.

  20. Oxidative phosphorylation as a target to arrest malignant neoplasias.

    Science.gov (United States)

    Rodríguez-Enríquez, Sara; Gallardo-Pérez, Juan Carlos; Marín-Hernández, Alvaro; Aguilar-Ponce, José Luis; Mandujano-Tinoco, Edna Ayerim; Meneses, Abelardo; Moreno-Sánchez, Rafael

    2011-01-01

    Since Warburg proposed in 1956 that cancer cells exhibit increased glycolysis due to mitochondrial damage, numerous researchers have assumed that glycolysis is the predominant ATP supplier for cancer cell energy-dependent processes. However, chemotherapeutic strategies using glycolytic inhibitors have been unsuccessful in arresting tumor proliferation indicating that the Warburg hypothesis may not be applicable to all existing neoplasias. This review analyzes recent information on mitochondrial metabolism in several malignant neoplasias emphasizing that, although tumor cells maintain a high glycolytic rate, the principal ATP production may derive from active oxidative phosphorylation. Thus, anti-mitochondrial drug therapy may be an adequate adjuvant strategy to arrest proliferation of oxidative phosphorylation-dependent neoplasias.

  1. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

    DEFF Research Database (Denmark)

    Halvarsson, Britta; Anderson, Harald; Domanska, Katarina

    2008-01-01

    Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers...

  2. Reducing Aircraft Down for Lack of Parts with Sporadic Demand

    National Research Council Canada - National Science Library

    Bachman, Tovey

    2004-01-01

    .... Because of their sporadic demand, it is difficult to decide when to buy these items and in what quantities. As systems become more reliable and failure rates decrease, the number of these infrequently demanded parts is likely to grow...

  3. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

    Science.gov (United States)

    Kallenberg, K.; Summers, D. M.; Romero, C.; Taratuto, A.; Heinemann, U.; Breithaupt, M.; Varges, D.; Meissner, B.; Ladogana, A.; Schuur, M.; Haik, S.; Collins, S. J.; Jansen, Gerard H.; Stokin, G. B.; Pimentel, J.; Hewer, E.; Collie, D.; Smith, P.; Roberts, H.; Brandel, J. P.; van Duijn, C.; Pocchiari, M.; Begue, C.; Cras, P.; Will, R. G.; Sanchez-Juan, P.

    2009-01-01

    Several molecular subtypes of sporadic Creutzfeldt–Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications have demonstrated a potentially important role for magnetic resonance imaging in the pre-mortem diagnosis of sporadic Creutzfeldt–Jakob disease. Magnetic resonance imaging signal alterations correlate with distinct sporadic Creutzfeldt–Jakob disease molecular subtypes and thus might contribute to the earlier identification of the whole spectrum of sporadic Creutzfeldt–Jakob disease cases. This multi-centre international study aimed to provide a rationale for the amendment of the clinical diagnostic criteria for sporadic Creutzfeldt–Jakob disease. Patients with sporadic Creutzfeldt–Jakob disease and fluid attenuated inversion recovery or diffusion-weight imaging were recruited from 12 countries. Patients referred as ‘suspected sporadic Creutzfeldt–Jakob disease’ but with an alternative diagnosis after thorough follow up, were analysed as controls. All magnetic resonance imaging scans were assessed for signal changes according to a standard protocol encompassing seven cortical regions, basal ganglia, thalamus and cerebellum. Magnetic resonance imaging scans were evaluated in 436 sporadic Creutzfeldt–Jakob disease patients and 141 controls. The pattern of high signal intensity with the best sensitivity and specificity in the differential diagnosis of sporadic Creutzfeldt–Jakob disease was identified. The optimum diagnostic accuracy in the differential diagnosis of rapid progressive dementia was obtained when either at least two cortical regions (temporal, parietal or occipital) or both caudate nucleus and putamen displayed a high signal in fluid attenuated inversion recovery or diffusion-weight imaging magnetic resonance imaging. Based on our analyses, magnetic

  4. Clinical Significance of Microsatellite Instability in Sporadic Epithelial Ovarian Tumors

    OpenAIRE

    Yoon, Bo-Sung; Kim, Young-Tae; Kim, Jae-Hoon; Kim, Sang-Wun; Nam, Eun-Ji; Cho, Nam-Hoon; Kim, Jae-Wook; Kim, Sunghoon

    2008-01-01

    Purpose We evaluated the expression of microsatellite instability (MSI) in sporadic ovarian tumors using 5 standard and 9 new MSI markers to determine the clinical significance of MSI in sporadic epithelial ovarian tumors. Materials and Methods MSI was examined in 21 borderline and 25 malignant ovarian tumors. Polymerase chain reaction (PCR) was performed using the 5 markers recommended by the National Cancer Institute (NCI) for colon cancer and 9 additional markers. MSI was determined using ...

  5. Prevention

    DEFF Research Database (Denmark)

    Halken, S; Høst, A

    2001-01-01

    , breastfeeding should be encouraged for 4-6 months. In high-risk infants a documented extensively hydrolysed formula is recommended if exclusive breastfeeding is not possible for the first 4 months of life. There is no evidence for preventive dietary intervention neither during pregnancy nor lactation...... populations. These theories remain to be documented in proper, controlled and prospective studies. Breastfeeding and the late introduction of solid foods (>4 months) is associated with a reduced risk of food allergy, atopic dermatitis, and recurrent wheezing and asthma in early childhood. In all infants....... Preventive dietary restrictions after the age of 4-6 months are not scientifically documented....

  6. Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese.

    Directory of Open Access Journals (Sweden)

    Jing Kong

    Full Text Available Multiple endocrine neoplasia type 1-related primary hyperparathyroidism (MHPT differs in many aspects from sporadic PHPT (SHPT. The aims of this study were to summarize the clinical features and genetic background of Chinese MHPT patients and compare the severity of the disease with those of SHPT.A total of 40 MHPT (27 sporadic, 7 families and 169 SHPT cases of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary system. Dual energy x-ray absorptiometry (DXA were performed to measure bone mineral density (BMD. Besides direct sequencing of the MEN1 and CDKN1B genes, multiplex ligation-dependent probe amplification (MLPA was used to screen gross deletion for the MEN1 gene.Compared with SHPT patients, MHPT patients showed lower prevalence of typical X-ray changes related to PHPT (26.3% vs. 55.7%, P = 0.001 but higher prevalence of urolithiasis/renal calcification (40.2% vs. 60.0%, P = 0.024. MHPT patients showed higher phosphate level (0.84 vs. 0.73mmol/L, P<0.05 but lower ALP (103.0 vs. 174.0U/L, P<0.001 and PTH (4.0 vs. 9.8×upper limit, P<0.001 levels than SHPT patients. There were no significant differences in BMD Z-scores at the lumbar spine and femoral neck between the two groups. Mutations in the MEN1 gene were detected in 27 MHPT cases. Among the nine novel mutations were novel, one of them involved the deletion of exon 5 and 6.MHPT patients experienced more common kidney complications but less skeletal issues, and a milder biochemical manifestation compared with SHPT patients. MEN1 mutation detection rate was 79.4% and 9 of the identified mutations were novel.

  7. Pharmacological Intervention through Dietary Nutraceuticals in Gastrointestinal Neoplasia.

    Science.gov (United States)

    Ullah, Mohammad F; Bhat, Showket H; Husain, Eram; Abu-Duhier, Faisel; Hadi, S M; Sarkar, Fazlul H; Ahmad, Aamir

    2016-07-03

    Neoplastic conditions associated with gastrointestinal (GI) tract are common worldwide with colorectal cancer alone accounting for the third leading rate of cancer incidence. Other GI malignancies such as esophageal carcinoma have shown an increasing trend in the last few years. The poor survival statistics of these fatal cancer diseases highlight the need for multiple alternative treatment options along with effective prophylactic strategies. Worldwide geographical variation in cancer incidence indicates a correlation between dietary habits and cancer risk. Epidemiological studies have suggested that populations with high intake of certain dietary agents in their regular meals have lower cancer rates. Thus, an impressive embodiment of evidence supports the concept that dietary factors are key modulators of cancer including those of GI origin. Preclinical studies on animal models of carcinogenesis have reflected the pharmacological significance of certain dietary agents called as nutraceuticals in the chemoprevention of GI neoplasia. These include stilbenes (from red grapes and red wine), isoflavones (from soy), carotenoids (from tomatoes), curcuminoids (from spice turmeric), catechins (from green tea), and various other small plant metabolites (from fruits, vegetables, and cereals). Pleiotropic action mechanisms have been reported for these diet-derived chemopreventive agents to retard, block, or reverse carcinogenesis. This review presents a prophylactic approach to primary prevention of GI cancers by highlighting the translational potential of plant-derived nutraceuticals from epidemiological, laboratory, and clinical studies, for the better management of these cancers through consumption of nutraceutical rich diets and their intervention in cancer therapeutics.

  8. Methyl supply, methyl metabolizing enzymes and colorectal neoplasia.

    Science.gov (United States)

    Potter, John D

    2002-08-01

    A low intake of vegetables (but not fruit) is established as a risk factor for colon cancer. Although there are a multitude of active agents that may explain this, one important candidate is folate. Among studies specifically examining intake of folate derived from food and supplements, higher intake is generally associated with lower risk of both adenomas and cancer. Other nutrients associated with the folate pathway-methionine, vitamin B-6, vitamin B-12-or that impact the pathway-alcohol-have also been shown to influence risk in predictable ways. Polymorphisms in enzymes involved in the metabolism of folate also are associated with modification in risk, but essentially only in the presence of low intakes of folate and related nutrients. The consistency of the above evidence suggests that folate is an active agent, not just a marker for the intake of other effectors found in vegetables and multivitamin preparations. There are at least two mechanisms that may explain these findings: folate is central both to the provision of S-adenosylmethionine, the universal methyl donor, and to the provision of nucleotides for DNA synthesis and repair. Fortification of food with folate, as well as intake from multivitamin and pharmacological sources, may increasingly contribute to the primary prevention of colorectal neoplasia although it is possible that there is such a condition as having too much folate.

  9. Inmunología tumoral y neoplasias del sistema inmune

    OpenAIRE

    Sen Fernández, María Luz de la; Sempere Ortells, José Miguel; Marco, Francisco M.; Vázquez Araujo, Begoña

    2012-01-01

    Inmunología tumoral: vigilancia inmunológica, antígenos tumorales, respuesta inmune antitumoral, escape tumoral. Inmunología y diagnóstico. Inmunoterapia. Neoplasias del sistema inmune: leucemias y linfomas.

  10. Diagnosis by Endoscopy and Advanced Imaging of Barrett's Neoplasia

    NARCIS (Netherlands)

    Swager, Anne-Fré; Curvers, Wouter L.; Bergman, Jacques J.

    2016-01-01

    Evaluation of patients with Barrett's esophagus (BE) using dye-based chromoendoscopy, optical chromoendoscopy, autofluorescence imaging, or confocal laser endomicroscopy does not significantly increase the number of patients with a diagnosis of early neoplasia compared with high-definition white

  11. Modeling human endothelial cell transformation in vascular neoplasias.

    Science.gov (United States)

    Wen, Victoria W; MacKenzie, Karen L

    2013-09-01

    Endothelial cell (EC)-derived neoplasias range from benign hemangioma to aggressive metastatic angiosarcoma, which responds poorly to current treatments and has a very high mortality rate. The development of treatments that are more effective for these disorders will be expedited by insight into the processes that promote abnormal proliferation and malignant transformation of human ECs. The study of primary endothelial malignancy has been limited by the rarity of the disease; however, there is potential for carefully characterized EC lines and animal models to play a central role in the discovery, development and testing of molecular targeted therapies for vascular neoplasias. This review describes molecular alterations that have been identified in EC-derived neoplasias, as well as the processes that underpin the immortalization and tumorigenic conversion of ECs. Human EC lines, established through the introduction of defined genetic elements or by culture of primary tumor tissue, are catalogued and discussed in relation to their relevance as models of vascular neoplasia.

  12. Can the Ni classification of vessels predict neoplasia?

    DEFF Research Database (Denmark)

    Mehlum, Camilla Slot; Rosenberg, Tine; Dyrvig, Anne-Kirstine

    2018-01-01

    of the Ni classification to predict laryngeal or hypopharyngeal neoplasia and to investigate if a changed cutoff value would support the recent European Laryngological Society (ELS) proposal of perpendicular vascular changes as indicative of neoplasia. DATA SOURCES: PubMed, Embase, Cochrane, and Scopus......OBJECTIVES: The Ni classification of vascular change from 2011 is well documented for evaluating pharyngeal and laryngeal lesions, primarily focusing on cancer. In the planning of surgery it may be more relevant to differentiate neoplasia from non-neoplasia. We aimed to evaluate the ability....... The pooled sensitivity and specificity of the Ni classification with two different cutoffs were calculated, and bubble and summary receiver operating characteristics plots were created. RESULTS: The combined sensitivity of five studies (n = 687) with Ni type IV-V defined as test-positive was 0.89 (95...

  13. Molecular biological factors in the diagnosis of cervical intraepithelial neoplasias

    Directory of Open Access Journals (Sweden)

    Yu. N. Ponomareva

    2010-01-01

    Full Text Available The authors have made a complex analysis of the molecular biological factors associated with cervical intraepithelial neoplasia. They have revealed that infection by oncogenic human papillomavirus types is associated with suppressed apoptosis and enhanced cellular proliferative activity, which can be effectively used in the diagnosis and prediction of cervical neoplasias to optimize management tac- tics and to improve the results of treatment.

  14. HAEMOPHILUS INFLUENZAE INFECTION IN CHILDREN DURING SPORADIC MORBIDITY: CLINICAL CASES WITH DIFFERENT (FAVORABLE OR FATAL OUTCOMES

    Directory of Open Access Journals (Sweden)

    Gennadii A. Kharchenko

    2017-01-01

    Full Text Available Haemophilus influenzae infection in children is detected as sporadic cases and is characterized by polymorphism of clinical symptoms (rhinopharyngitis, purulent meningitis, acute epiglottitis, panniculitis, etc., which complicates an early diagnosis and treatment of this pathology. In young children, Haemophilus influenzae infection (type b often occurs in generalized forms and may result in death. The article presents  literature data and the results of own clinical observations  of Haemophilus influenzae cases that occurred with an aspect of purulent meningitis and panniculitis in young children. The tactics of a complex therapy and ways to prevent Haemophilus in fluenzae infection are discussed.

  15. Lobular neoplasia: frequency and association with other breast lesions

    Directory of Open Access Journals (Sweden)

    Gobbi Helenice

    2011-08-01

    Full Text Available Abstract Background Using new molecular biology techniques, recent studies have implicated a common evolutionary pathway between lobular neoplasia, lobular carcinomas, and columnar cell lesions. Our aims were to assess the frequency of lobular neoplasia in a series of breast biopsies that were performed and examined in the same institution and to analyze the association between subtypes of lobular neoplasia and benign and malignant breast lesions. Methods Cases were selected after reviewing archived pathological reports in the Breast Pathology Laboratory, School of Medicine of Federal University of Minas Gerais (1999-2008. Cases of lobular neoplasia were reviewed and classified as atypical lobular hyperplasia, ductal involvement by cells of atypical lobular hyperplasia, lobular carcinoma in situ, and pleomorphic lobular carcinoma in situ. Coexistence of lobular neoplasia with other breast lesions, including columnar cell lesions, invasive ductal carcinoma and invasive lobular carcinoma, was evaluated. The association between lobular neoplasia and breast lesions was analyzed by Fisher's exact test and chi-square test for linear trend. Results We analyzed 5650 breast specimens, selecting 135 breast specimens (2.4% that had a diagnosis of lobular neoplasia, corresponding to 106 patients. Hematoxylin and eosin-stained slides were available for 84 cases, 5 of which were excluded because they contained only "indeterminate" in situ lesions. Of the 79 remaining cases, columnar cell lesions were present in 78.5%, primarily with columnar cell changes without atypia (67.7%. Invasive carcinoma was present in 45.6% of cases of lobular neoplasia--a similar frequency (47.2% as invasive ductal carcinoma and invasive lobular carcinoma. We noted a significant linear trend (p in situ compared with atypical lobular hyperplasia. Invasive lobular carcinomas were associated with lobular carcinoma in situ in 33% of cases, compared with 2.8% of atypical lobular

  16. Radiogenic neoplasia in thyroid and mammary clonogens

    International Nuclear Information System (INIS)

    Clifton, K.H.

    1993-01-01

    The induction of cancer by ionizing radiation is a matter of great practical importance to the nuclear industry, to national defense, to radiological medicine and to the general public. It is increasingly apparent that carcinogenesis is one of the leading dose-limiting effects of radiation exposure (Co90). Quantitative information at the cellular level is essential to an understanding of the mechanisms of radiogenic neoplastic initiation and the stages of promotion and progression to overt neoplasia. We have developed two experimental models, the rat thyroid and rat mammary clonogen transplant systems, for the quantitative study of radiation carcinogenesis at the cellular level in vivo (C185). The most important steps taken or completed during the current grant year include: (a) demonstration of the high age-dependent radiosensitivity of prepubertal rat mammary clonogens to radiogenic damage which may influence their susceptibility to neoplastic initiation, and (b) demonstration of the feasibility of using a molecular test for clonogenicity in which Simple Sequence Repeats in the DNA serve as identifying signals of the genotypic origin of the cells. We have also (c) set up a large carcinogenesis experiment to test the effect of close intercellular contact in thyroid glands in situ on promotion-progression of radiogenically initiated clonogens, (d) achieved considerable further concentration of thyroid clonogens, and (e) begun to explore whether thyroid cells can be induced to give rise to three dimensional multicellular structures in culture in reconstituted basement membrane. These are discussed in this report

  17. Inflammatory Bowel Disease and Cervical Neoplasia

    DEFF Research Database (Denmark)

    Rungoe, Christine; Simonsen, Jacob; Riis, Lene

    2015-01-01

    .99; 95% confidence interval [CI], 0.96-1.02), whereas screening frequency was slightly increased in women with UC (IRR, 1.06; 95% CI, 1.04-1.08). A total of 561 patients with UC were diagnosed with dysplasia during a median follow-up time of 7.8 years, and 28 patients with UC developed cervical cancer......, compared with 1918 controls. A total of 407 patients with CD were diagnosed with dysplasia during a median follow-up time of 8.3 years, and 26 patients with CD developed cervical cancer, compared with 940 controls. Patients with UC had increased risk of low-grade (IRR, 1.15; 95% CI, 1.00-1.32) and high-grade...... established a national cohort of women diagnosed with UC (n = 18,691) or CD (n = 8717) between 1979 and 2011 and a control cohort of individually matched women from the general population (controls, n = 1,508,334). Incidence rate ratios (IRRs) of screening activity and diagnosis of cervical neoplasia in women...

  18. 5-Aminosalicylates reduce the risk of colorectal neoplasia in patients with ulcerative colitis: an updated meta-analysis.

    Directory of Open Access Journals (Sweden)

    Li-Na Zhao

    Full Text Available BACKGROUND: Although the chemopreventive effect of 5-aminosalicylates on patients with ulcerative colitis has been extensively studied, the results remain controversial. This updated review included more recent studies and evaluated the effectiveness of 5-aminosalicylates use on colorectal neoplasia prevention in patients with ulcerative colitis. METHODS: Up to July 2013, we searched Medline, Embase, Web of Science, Cochrane CENTRAL, and SinoMed of China for all relevant observational studies (case-control and cohort about the effect of 5-aminosalicylates on the risk of colorectal neoplasia among patients with ulcerative colitis. The Newcastle-Ottawa Scale was used to assess the quality of studies. Adjusted odds ratios (ORs were extracted from each study. A random-effects model was used to generate pooled ORs and 95% confidence intervals (95%CI. Publication bias and heterogeneity were assessed. RESULTS: Seventeen studies containing 1,508 cases of colorectal neoplasia and a total of 20,193 subjects published from 1994 to 2012 were analyzed. 5-aminosalicylates use was associated with a reduced risk of colorectal neoplasia in patients with ulcerative colitis (OR 0.63; 95%CI 0.48-0.84. Pooled OR of a higher average daily dose of 5-aminosalicylates (sulfasalazine ≥ 2.0 g/d, mesalamine ≥ 1.2 g/d was 0.51 [0.35-0.75]. Pooled OR of 5-aminosalicylates use in patients with extensive ulcerative colitis was 1.00 [0.53-1.89]. CONCLUSION: Our pooled results indicated that 5-aminosalicylates use was associated with a reduced risk of colorectal neoplasia in patients with ulcerative colitis, especially in the cases with a higher average daily dose of 5-aminosalicylates use. However, the chemopreventive benefit of 5-aminosalicylates use in patients with extensive ulcerative colitis was limited.

  19. Somatic mutations of the ret Protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence

    Energy Technology Data Exchange (ETDEWEB)

    Romei, C.; Elisei, R.; Pinchera, A. [Univ. of Pisa (Italy)] [and others

    1996-04-01

    Germline point mutations in exons 10, 11, and 16 of the ret protooncogene have been identified as causative in multiple endocrine neoplasia type 2 and in familial medullary thyroid carcinoma (MTC). Somatic point mutations of the same gene, exclusively associated with codon 918 of exon 16, have also been reported in few cases of sporadic medullary thyroid carcinoma. We analyzed the blood and tumor DNA of 19 patients with sporadic MTC and 6 patients with primary parathyroid adenoma for point mutations at exons 10, 11, and 16 of the ret protooncogene by restriction analysis of the PCR-amplified product and by sequence analysis of exons 10 and 11. A Cys{sup 634}{r_arrow}Tyr mutation was found in both the tumoral and blood DNA of one patient, indicating that he was affected by an hereditary form of MTC, erroneously considered sporadic. In the other 18 patients with MTC, somatic point mutations of ret were found in 8 cases (44.4%). In 5 cases the mutation affected exon 16 (Met{sup 918}{r_arrow}Thr), and in 3 cases it affected exon 11 (Cys{sup 634}{r_arrow}Arg in 1 and Cys{sup 634}{r_arrow}Trp in 2); these 3 mutations were confirmed by sequence analysis. The remaining 10 patients had no mutation in exon 10 by either restriction analysis or sequence analysis. Clinical data showed that 75% of the patients whose tumor carried ret mutation had tumor recurrence and/or increased serum calcitonin concentrations during the postsurgical follow-up period as opposed to 10% of the patients without mutations (P < 0.02, by {chi}{sup 2} analysis). No ret mutation was found in the tumoral DNA from parathyroid adenomas. Our findings indicate that the somatic ret point mutation frequently found in sporadic MTC may affect not only exon 16 but also exon 11 and is associated with less favorable clinical outcome. 14 refs., 2 figs., 3 tabs.

  20. Histological Characterization of Biliary Intraepithelial Neoplasia with respect to Pancreatic Intraepithelial Neoplasia

    Directory of Open Access Journals (Sweden)

    Yasunori Sato

    2014-01-01

    Full Text Available Biliary intraepithelial neoplasia (BilIN is a precursor lesion of hilar/perihilar and extrahepatic cholangiocarcinoma. BilIN represents the process of multistep cholangiocarcinogenesis and is the biliary counterpart of pancreatic intraepithelial neoplasia (PanIN. This study was performed to clarify the histological characteristics of BilIN in relation to PanIN. Using paraffin-embedded tissue sections of surgically resected specimens of cholangiocarcinoma associated with BilIN and pancreatic ductal adenocarcinoma associated with PanIN, immunohistochemical staining was performed using primary antibodies against MUC1, MUC2, MUC5AC, cyclin D1, p21, p53, and S100P. For mucin staining, Alcian blue pH 2.5 was used. Most of the molecules examined here showed similar expression patterns in BilIN and PanIN, in which their expression tended to increase along with the increase in atypia of the epithelial lesions. Significant differences were observed in the increase in mucin production and the expression of S100P in PanIN-1 and the expression of p53 in PanIN-3, when compared with those in BilIN of a corresponding grade. These results suggest that cholangiocarcinoma and pancreatic ductal adenocarcinoma share, at least in part, a common carcinogenic process and further confirm that BilIN can be regarded as the biliary counterpart of PanIN.

  1. Similar phenotype characteristics comparing familial and sporadic premature ovarian failure.

    Science.gov (United States)

    Janse, Femi; Knauff, Erik A H; Niermeijer, Martinus F; Eijkemans, Marinus J; Laven, Joop S E; Lambalk, Cornelius B; Fauser, Bart C J M; Goverde, Angelique J

    2010-07-01

    Premature ovarian failure (POF) is characterized by secondary amenorrhea before the age of 40 years, along with repeated increased follicle-stimulating hormone and low estrogen concentrations. POF is considered a complex genetic disease with a familial presentation in 12% to 50% of cases. POF may originate from different genes and various gene-environment interactions. The aim of this study was to identify possible differences in phenotype comparing women with familial and women with sporadic POF. A multicenter study was initiated in the Netherlands using standardized phenotyping. For each woman, medical history, menstrual cycle, and fertility and smoking status were assessed and a standardized examination was performed. Based on a detailed three-generation family history, women were identified as having either familial (defined as having at least one relative with POF) or sporadic POF. A total of 58 familial cases and 142 sporadic cases of POF were identified. Maternal age at menopause was significantly lower in the women with familial compared with the women with sporadic POF (41.0 +/- 7.5 and 49.7 +/- 2.6 y, respectively; P hormone-binding globulin concentration was significantly higher in the women with familial than in the women with sporadic POF (73.6 +/- 37.1 and 55.2 +/- 26.9 nmol/L, respectively; P = 0.002). All other characteristics, such as parity, bone mineral density, and serum follicle-stimulating hormone and lipid levels were similar, as was the incidence of autoimmunity and cytogenetic abnormalities. Familial and sporadic POF do not differ in phenotype except for maternal menopause age and sex hormone-binding globulin concentration. Future studies are needed to unravel the genotype-phenotype interactions in POF.

  2. Immunohistochemistry for cell polarity protein lethal giant larvae 2 differentiates pancreatic intraepithelial neoplasia-3 and ductal adenocarcinoma of the pancreas from lower-grade pancreatic intraepithelial neoplasias.

    Science.gov (United States)

    Lisovsky, Mikhail; Dresser, Karen; Woda, Bruce; Mino-Kenudson, Mari

    2010-06-01

    Pancreatic intraepithelial neoplasia is a precursor to ductal adenocarcinoma of the pancreas that shows gastric differentiation. Pancreatic intraepithelial neoplasia-3 has the highest potential to progress to adenocarcinoma, and its distinction from lower-grade pancreatic intraepithelial neoplasias is important for clinical management. However, morphologic grading of pancreatic intraepithelial neoplasia suffers from significant interobserver variability. A product of cell polarity gene lethal giant larvae 2 is a marker of gastric foveolar epithelium expressed in a basolateral fashion, which is lost or mislocalized in gastric epithelial dysplasia and adenocarcinoma. In this study, we investigated a role of lethal giant larvae 2 expression in differentiating low-grade pancreatic intraepithelial neoplasias, that is, pancreatic intraepithelial neoplasia-1 and pancreatic intraepithelial neoplasia-2, from pancreatic intraepithelial neoplasia-3 and pancreatic ductal adenocarcinoma. The immunohistochemical patterns of lethal giant larvae 2 expression were examined in normal pancreatic ducts, 48 pancreatic intraepithelial neoplasia lesions of all histologic grades, and 91 adenocarcinomas on a tissue microarray or conventional sections. The expression pattern was recorded as basolateral, cytoplasmic, negative, or combinations of any of them. Whereas normal duct epithelia did not exhibit lethal giant larvae immunoreactivity, all but one lesion of low-grade pancreatic intraepithelial neoplasia showed basolateral lethal giant larvae staining. Conversely, all lesions of pancreatic intraepithelial neoplasia-3 and adenocarcinoma showed loss of lethal giant larvae 2 staining and/or its cytoplasmic localization. Interestingly, a basolateral expression was focally seen in 4 adenocarcinomas with a foamy gland pattern and was always admixed with negatively stained areas. In conclusion, our results show that low-grade pancreatic intraepithelial neoplasias express lethal giant larvae 2

  3. Cutaneous neoplasia following PUVA therapy for psoriasis

    Energy Technology Data Exchange (ETDEWEB)

    McKenna, K.E.; Handley, J.; McGinn, S.; Allen, G. [Belfast City Hospital (United Kingdom). Dept. of Dermatology; Patterson, C.C. [Queen`s Univ., Belfast, Northern Ireland (United Kingdom)

    1996-04-01

    To determine the risk of cutaneous neoplasia following photochemotherapy (PUVA), we reviewed patients with psoriasis treated at out unit between 1979 and 1991. Two hundred and forty-five patients were assessed, with a median duration of follow-up of 9.5 years. Fifty-nine per cent were male, and 41% female. The median number of exposures was 59, and the median total dose was 133J/cm{sup 2} for the group as a whole. Non-melanoma skin cancers (NMSC) occurred in six individuals (2.4%), basal cell carcinoma occurred in all six and one individual also developed four squamous cell carcinomas and Bowen`s disease of the penis. No cases of malignant melanoma were recorded. Patients who developed NMSC received a median number of 225 exposures and a median cumulative dose of 654J/cm{sup 2}. Compared with a control study population in West Glamorgan, Wales, there was a 1.4 (95% confidence limits (CL) 0.5 and 3.1) times increased risk of NMSC. A statistically significant increased incidence of NMSC was found for patients who had received 100 or more exposures, and 250 or more J/cm{sup 2}, with risks of 3.7 (95% CL 1.0 and 9.5), and 4.0 (95% CL 1.1 and 10), respectively. A PUVA dose of < 250 J/cm{sup 2} or < 100 exposures conferred a minimal increase in risk of NMSC in our study population. (author).

  4. Radiogenic neoplasia in thyroid and mammary clonogens

    International Nuclear Information System (INIS)

    Clifton, K.H.

    1991-01-01

    We have developed rat thyroid and mammary clonogen transplantation systems for the study of radiogenic cancer induction at the target cell level in vivo. The epithelial cell populations of both glands contain small subpopulations of cells which are capable of giving rise to monoclonal glandular structures when transplanted and stimulated with appropriate hormones. During the end of the last grant year and the first half of the current grant year, we have completed analyses and summarized for publication: investigations on the relationship between grafted thyroid cell number and the rapidity and degree of reestablishment of the thyroid-hypothalamicpituitary axis in thyroidectomized rats maintained on a normal diet or an iodine deficient diet; studies of the persistence of, and the differentiation potential and functional characteristics of, the TSH- (thyrotropin-) responsive sub-population of clonogens during goitrogenesis, the plateau-phase of goiter growth, and goiter involution; studies of changes in the size of the clonogen sub-population during goitrogenesis, goiter involution and the response to goitrogen rechallenge; and the results of the large carcinogenesis experiment on the nature of the grafted thyroid cell number-dependent suppression of promotion/progression to neoplasia in grafts of radiation-initiated thyroid cells. We are testing new techniques for the culture, cytofluorescent analysis and characterization mammary epithelial cells and of clonogens in a parallel project, and plan to apply similar technology to the thyroid epithelial cells and clonogen population. Data from these studies will be used in the design of future carcinogenesis experiments on neoplastic initiation by high and low LET radiations and on cells interactions during the neoplastic process

  5. DCLK1 immunoreactivity in colorectal neoplasia

    Directory of Open Access Journals (Sweden)

    Bellows CF

    2012-04-01

    Full Text Available Giuseppe Gagliardi1, Monica Goswami1, Roberto Passera2, Charles F Bellows11Department of Surgery and Pathology, Tulane University, New Orleans, LA, USA; 2Division of Nuclear Medicine Azienda Ospedaliero-Universitaria San Giovanni Battista, Turin, ItalyIntroduction: Microtubule-associated doublecortin and CaM kinase-like-1 (DCLK1 is a novel candidate marker for intestinal stem cells. The aim of our study was to assess DCLK1 immunoreactivity in colorectal carcinogenesis and its correlation with prognosis.Methods: DCLK1 immunostaining was performed in colorectal tissue from 71 patients, including 18 adenomatous polyps, 40 primary adenocarcinomas, and 14 metastatic lesions. Each case was evaluated by a combined scoring method based on the intensity of staining (score 0–3 and the percentage of tissue staining positive (score 0–3. Immunoexpression for DCLK1 was considered as positive when the combined score was 2–6 and negative with a score of 0–1.Results: Overall, 14/18 (78% of polyps, 30/40 (75% of primary adenocarcinomas, and 7/14 (50% of distant metastases were positive for DCLK1. In adenomatous polyps and primary cancer there was no association between DCLK1 staining score and tumor pathology. However, after curative colorectal cancer resection, patients whose tumor had a high (≥5 combined staining score had increased cancer-specific mortality compared to patients with low (0–4 staining score (hazard ratio 5.89; 95% confidence interval: 1.22–28.47; P = 0.027.Conclusion: We found that DCLK1 is frequently expressed in colorectal neoplasia and may be associated with poor prognosis. Further studies are necessary to validate the use of DCLK1 as a prognostic marker.Keywords: DCLK1, DCAMKL-1, gastrointestinal stem cell, cancer stem cell, adenomatous polyps, liver metastasis, immunohistochemistry

  6. Radiogenic neoplasia in thyroid and mammary clonogens

    International Nuclear Information System (INIS)

    Clifton, K.H.

    1992-01-01

    We have developed rat thyroid and mammary clonogen transplantation systems for the study of radiogenic cancer induction at the target cell level in vivo. The epithelial cell populations of both glands contain small subpopulations of cells which are capable of giving rise to monoclonal glandular structures when transplanted and stimulated with appropriate hormones. Previous results indicated that these clonogens are the precursor cells of radiogenic cancer, and that initiation, is common event at the clonegenic cell level. Detailed information on the physiologic control of clonogen proliferation, differentiation, and total numbers is thus essential to an understanding of the carcinogenic process. We report here studies on investigations on the relationships between grafted thyroid cell number and the rapidity and degree of reestablishment of the thyroid-hypothalamus-pituitary feedback axis in thyroidectomized rats maintained on a normal diet or an iodine deficient diet; studies of the persistence of, and the differentiation potential and functional characteristics of, the TSH-(thyrotropin-) responsive sub- population of clonogens during goitrogenesis, the plateau-phase of goiter growth, and goiter involution; studies of changes in the size of the clonogen sub-population during goitrogenesis, goiter involution and the response to goitrogen rechallenge; and a large carcinogenesis experiment on the nature of the grafted thyroid cell number-dependent suppression of promotion/progression to neoplasia in grafts of radiation-initiated thyroid cells. Data from these studies will be used in the design of future carcinogenesis experiments on neoplastic initiation by high and low LET radiations and on cell interactions during the neoplastic process

  7. Diagnosis by Endoscopy and Advanced Imaging of Barrett's Neoplasia.

    Science.gov (United States)

    Swager, Anne-Fré; Curvers, Wouter L; Bergman, Jacques J

    Evaluation of patients with Barrett's esophagus (BE) using dye-based chromoendoscopy, optical chromoendoscopy, autofluorescence imaging, or confocal laser endomicroscopy does not significantly increase the number of patients with a diagnosis of early neoplasia compared with high-definition white light endoscopy (HD-WLE) with random biopsy analysis. These newer imaging techniques are not more effective in standard surveillance of patients with BE because the prevalence of early neoplasia is low and HD-WLE with random biopsy analysis detects most cases of neoplasia. The evaluation and treatment of patients with BE and early stage neoplasia should be centralized in tertiary referral centers, where procedures are performed under optimal conditions, by expert endoscopists. Lesions that require resection are almost always detected by HD-WLE, although advanced imaging techniques can detect additional flat lesions. However, these are of limited clinical significance because they are effectively eradicated by ablation therapy. No endoscopic imaging technique can reliably assess submucosal or lymphangio invasion. Endoscopic resection of early stage neoplasia in patients with BE is important for staging and management. Optical chromoendoscopy can also be used to evaluate lesions before endoscopic resection and in follow-up after successful ablation therapy.

  8. Oncocytic Variant of Medullary Thyroid Carcinoma: A Rare Case of Sporadic Multifocal and Bilateral RET Wild-Type Neoplasm with Revision of the Literature.

    Science.gov (United States)

    Vinciguerra, Gian Luca Rampioni; Noccioli, Niccolò; Cippitelli, Claudia; Minucci, Angelo; Capoluongo, Ettore; Bartolazzi, Armando

    2016-11-17

    Oncocytic variant of medullary thyroid carcinoma (OV-MTC) is a very unusual entity, up to date only 17 cases have been reported in the literature. MTC is a neuro-endocrine malignancy arising from the para-follicular C cells of the thyroid gland. It generally has a slight female predominance and appears as a single lesion. However in the Multiple Endocrine Neoplasia Syndrome 2, linked to the point mutation of RET oncogene, multifocal MTCs may also occur. Herein, we report the case of a 75 years old man with a rare form of sporadic multifocal and bilateral OV-MTC expressing wild-type RET gene. The histological and molecular features of this rare entity are presented and discussed with revision of the pertinent literature.

  9. Oncocytic variant of medullary thyroid carcinoma: a rare case of sporadic multifocal and bilateral RET wild-type neoplasm with revision of the literature

    Directory of Open Access Journals (Sweden)

    Gian Luca Rampioni Vinciguerra

    2016-12-01

    Full Text Available Oncocytic variant of medullary thyroid carcinoma (OV-MTC is a very unusual entity, up to date only 17 cases have been reported in the literature. MTC is a neuro-endocrine malignancy arising from the para-follicular C cells of the thyroid gland. It generally has a slight female predominance and appears as a single lesion. However in the Multiple Endocrine Neoplasia Syndrome 2, linked to the point mutation of RET oncogene, multifocal MTCs may also occur. Herein, we report the case of a 75 years old man with a rare form of sporadic multifocal and bilateral OV-MTC expressing wild-type RET gene. The histological and molecular features of this rare entity are presented and discussed with revision of the pertinent literature.

  10. TLR4 activates the β-catenin pathway to cause intestinal neoplasia.

    Directory of Open Access Journals (Sweden)

    Rebeca Santaolalla

    Full Text Available Colonic bacteria have been implicated in the development of colon cancer. We have previously demonstrated that toll-like receptor 4 (TLR4, the receptor for bacterial lipopolysaccharide (LPS, is over-expressed in humans with colitis-associated cancer. Genetic epidemiologic data support a role for TLR4 in sporadic colorectal cancer (CRC as well, with over-expression favoring more aggressive disease. The goal of our study was to determine whether TLR4 played a role as a tumor promoter in sporadic colon cancer. Using immunofluorescence directed to TLR4, we found that a third of sporadic human colorectal cancers over-express this marker. To mechanistically investigate this observation, we used a mouse model that over-expresses TLR4 in the intestinal epithelium (villin-TLR4 mice. We found that these transgenic mice had increased epithelial proliferation as measured by BrdU labeling, longer colonic crypts and an expansion of Lgr5+ crypt cells at baseline. In addition, villin-TLR4 mice developed spontaneous duodenal dysplasia with age, a feature that is not seen in any wild-type (WT mice. To model human sporadic CRC, we administered the genotoxic agent azoxymethane (AOM to villin-TLR4 and WT mice. We found that villin-TLR4 mice showed an increased number of colonic tumors compared to WT mice as well as increased β-catenin activation in non-dysplastic areas. Biochemical studies in colonic epithelial cell lines revealed that TLR4 activates β-catenin in a PI3K-dependent manner, increasing phosphorylation of β-catenin(Ser552, a phenomenon associated with activation of the canonical Wnt pathway. Our results suggest that TLR4 can trigger a neoplastic program through activation of the Wnt/β-catenin pathway. Our studies highlight a previously unexplored link between innate immune signaling and activation of oncogenic pathways, which may be targeted to prevent or treat CRC.

  11. Sporadic potassium layers and their connection to sporadic E layers in the mesopause region at Beijing, China

    Directory of Open Access Journals (Sweden)

    Jing Jiao

    2017-06-01

    Full Text Available A double-laser beam lidar to measure potassium (K layer at Beijing (40.5° N, 116.2° E was successfully developed in 2010. The parameters of sporadic Ks layers and their distributions were given. The seasonal distribution of Ks occurrence frequency was obtained, with two maxima in July and January. The seasonal distributions of sporadic Es layer occurrence frequency over Beijing differ from those of Ks. However, the good correlation between Es and Ks in the case-by-case studies supports the mechanism of neutralization of metal ions in a descending Es layer.

  12. [Serrated neoplasia of the gastro-intestinal tract].

    Science.gov (United States)

    Chatelain, Denis; Terris, Benoît; Fléjou, Jean-François

    2006-04-01

    Serrated neoplasia of the gastro-intestinal tract have peculiar microscopic and molecular features that are still incompletely described. Some serrated polyps seem to be involved in a new carcinogenic pathway in the colon: the serrated neoplasia pathway, with hypermethylation of the cytosine-guanine dinucleotides, located in the promoter of some genes such as h-MLH1, BRAF and MGMT. The natural history of the serrated polyps and their risk for progression to malignancy are still unclear. There is no official guideline for the management of serrated polyps. The aim of this article is to describe the epidemiological, morphological, immunohistochemical and molecular characteristics of the serrated neoplasia of the gastrointestinal tract: hyperplastic polyps, "traditional" serrated adenomas, mixed hyperplastic and adenomatous polyps, sessile serrated adenomas, hyperplastic polyposis and serrated adenocarcinomas.

  13. p53 tumor suppressor gene: significance in neoplasia - a review

    International Nuclear Information System (INIS)

    Alam, J.M.

    2000-01-01

    p53 is a tumor suppressor gene located on chromosome 17p13.1. Its function includes cell cycle control and apoptosis. Loss of p53 function, either due to decreased level or genetic transformation, is associated with loss of cell cycle control, decrease, apoptosis and genomic modification, such mutation of p53 gene is now assessed and the indicator of neoplasia of cancer of several organs and cell types, p53 has demonstrated to have critical role in defining various progressive stages of neoplasia, therapeutic strategies and clinical application. The present review briefly describes function of p53 in addition to its diagnostic and prognostic significance in detecting several types of neoplasia. (author)

  14. Risk Factors and Sexual Assault Prevention.

    Science.gov (United States)

    McCall, George J.

    1993-01-01

    Sexual assault prevention programming remains a confused, scattered, and sporadic enterprise with little scientific underpinning. Sexual assault prevention suffers because it neither fits the traditional crime prevention model, nor the traditional public health model of prevention programming. Traces political and technical consequences, and…

  15. Brain sonography in African infants with complicated sporadic ...

    African Journals Online (AJOL)

    Background: To determine the structural findings in brain sonography of African infants with complicated sporadic bacterial meningitis. Materials and Methods: Retrospective assessment of medical records of patients who underwent brain sonography on account of complicated bacterial meningitis. The brain sonography ...

  16. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    I. Zerr; K. Kallenberg; D.M. Summers; C. Romero; A. Taratuto; U. Heinemann; M. Breithaupt; D. Varges; B. Meissner; A. Ladogana (Anna); M. Schuur (Maaike); S. Haik; S.J. Collins (Steven); G.H. Jansen (Gerard); G.B. Stokin; J. Pimentel; E. Hewer; D. Collie; P. Smith; H. Roberts; J.P. Brandel; P. Tikka-Kleemola (Päivi); M. Pocchiari (Maurizio); C. Begue; P. Cras (Patrick); R.G. Will; P. Sanchez-Juan (Pascual)

    2009-01-01

    textabstractSeveral molecular subtypes of sporadic Creutzfeldt-Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications

  17. Comparing Sporadic and Outbreak-associated Foodborne Illness

    Centers for Disease Control (CDC) Podcasts

    2016-11-04

    Dr. Eric Ebel, a veterinarian and risk analyst with USDA’s Food Safety and Inspection Service, discusses his article on sporadic and outbreak-associated cases of foodborne illness.  Created: 11/4/2016 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 11/4/2016.

  18. Prevalence of Abnormal Cervical Smears from Sporadic Screening ...

    African Journals Online (AJOL)

    The aim of the study was to find the prevalence of abnormal smears in an unscreened population of sexually active women attending a gynaecological clinic. “Pap” smears were taken sporadically for cytological examination from sexually active women attending gynaecological clinics at the Federal Medical Centre Gombe.

  19. Legionnaires’ Disease: Clinicoradiological Comparison of Sporadic Versus Outbreak Cases

    Directory of Open Access Journals (Sweden)

    Hafiz Rizwan Talib Hashmi

    2017-06-01

    Full Text Available Background: In 2015, New York City experienced the worst outbreak of Legionnaires’ disease in the history of the city. We compare patients seen during the 2015 outbreak with sporadic cases of Legionella during the past 5 years. Methods: We conducted a retrospective chart review of 90 patients with Legionnaires’ disease, including sporadic cases of Legionella infection admitted from 2010 to 2015 (n = 55 and cases admitted during the 2015 outbreak (n = 35. Results: We saw no significant differences between the 2 groups regarding demographics, smoking habits, alcohol intake, underlying medical disease, or residence type. Univariate and multivariate analyses showed that patients with sporadic case of Legionella had a longer stay in the hospital and intensive care unit as well as an increased stay in mechanical ventilation. Short-term mortality, discharge disposition, and most clinical parameters did not differ significantly between the 2 groups. Conclusions: We found no specific clinicoradiological characteristics that could differentiate sporadic from epidemic cases of Legionella . Early recognition and high suspicion for Legionnaires’ disease are critical to provide appropriate treatment. Cluster of cases should increase suspicion for an outbreak.

  20. Cyclin D1 genotype and expression in sporadic hemangioblastomas.

    NARCIS (Netherlands)

    Gijtenbeek, J.M.M.; Sprenger, S.H.E.; Franke, B.; Wesseling, P.; Jeuken, J.W.M.

    2005-01-01

    Central nervous system (CNS) hemangioblastomas are highly-vascularized tumors occurring in sporadic form or as a manifestation of von Hippel-Lindau disease (VHL). The VHL protein (pVHL) regulates various target genes, one of which is the CCND1 gene, encoding cyclin D1, a protein that plays a

  1. Dyschromatosis symmetrica hereditaria: Report of a sporadic case ...

    African Journals Online (AJOL)

    ... hands and feet, with no family history of similar lesions. The diagnosis was confirmed by the typical histologic finding of basal hyperpigmentation with normal number of melanocytes and absence of melanin incontinence from a hyperpigmented lesion. Keywords: DyschromatosisSymmetricaHereditaria, Nigerian, Sporadic ...

  2. Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy

    NARCIS (Netherlands)

    Visser, J.; de Visser, M.; van den Berg-Vos, R. M.; van den Berg, L. H.; Wokke, J. H. J.; de Jong, J. M. B. V.; Franssen, H.

    2008-01-01

    Objective We present the electrophysiologic data at baseline of 37 patients who were included in our prospective study on sporadic adult-onset progressive muscular atrophy (PMA). The aim was to correlate electrophysiological. signs of lower motor neuron (LMN) loss with clinical signs of LMN loss,

  3. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

    DEFF Research Database (Denmark)

    Halvarsson, Britta; Anderson, Harald; Domanska, Katarina

    2008-01-01

    Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers...... and excluded 61.5% of the tumors from MMR testing. This clinicopathologic index thus successfully selects MMR-defective colon cancers. Udgivelsesdato: 2008-Feb...

  4. [The practice guideline 'Dermatomyositis, polymyositis and sporadic inclusion body myositis'

    NARCIS (Netherlands)

    Hoogendijk, J.E.; Bijlsma, J.W.J.; Engelen, B.G.M. van; Lindeman, E.J.M.; Royen-Kerkhof, A. van; Rie, M.A. de; Visser, M. de; Jennekens, F.G.I.

    2005-01-01

    This guideline presents recommendations for the diagnosis and treatment of dermatomyositis, polymyositis and sporadic inclusion body myositis (sIBM) according to the best available evidence. Characteristic skin abnormalities can be sufficient for the diagnosis of dermatomyositis. In case of doubt, a

  5. Chlamydia trachomatis infection and risk of cervical intraepithelial neoplasia

    DEFF Research Database (Denmark)

    Lehtinen, Matti; Ault, Kevin A; Lyytikainen, Erika

    2011-01-01

    High-risk human papillomavirus (hrHPV) is the primary cause of cervical cancer. As Chlamydia trachomatis is also linked to cervical cancer, its role as a potential co-factor in the development of cervical intraepithelial neoplasia (CIN) grade 2 or higher was examined.......High-risk human papillomavirus (hrHPV) is the primary cause of cervical cancer. As Chlamydia trachomatis is also linked to cervical cancer, its role as a potential co-factor in the development of cervical intraepithelial neoplasia (CIN) grade 2 or higher was examined....

  6. Lobular intraepithelial neoplasia arising within breast fibroadenoma

    Science.gov (United States)

    2013-01-01

    Background Fibroadenomas are the second most common breast pathology occurring in young women under the age of 35 years old. Fibroadenomas can be classified as simple or complex according to histological features. Complex fibroadenomas differ from simple fibroadenomas because of the presence of cysts (3 mm), sclerosing adenosis, epithelial calcifications, or papillary apocrine changes. Most fibroadenomas are clinically identifiable. In 25% of cases, fibroadenomas are non-palpable and are diagnosed with mammography and ultrasound. Differential diagnosis with well differentiated breast cancer is often necessary, particularly with medullary or mucinous tumors. Calcification findings within fibroadenomas by mammogram have to be investigated. The age of a lump is usually reflected by calcifications. Microcalcification can hide foci of carcinoma in situ when they are small, branching type, and heterogeneous. However, many morphological possibilities may not be reliable for deciding whether a certain calcification is the product of a malignant or a benign process. From a radiological point of view, fibroadenomas containing foci of carcinoma in situ can be indistinguishable from benign lesions, even if the incidence of carcinoma within fibroadenomas is estimated as 0.1–0.3%, and it could be a long-term risk factor for invasive breast cancer. Case presentation A 44-year-old woman presented with a 1.5-cm palpable, smooth, mobile lump in the lower-inner quadrant of her right breast. Standard mediolateral oblique and craniocaudal mammograms showed a cluster of eccentric popcorn-like calcifications within the fibroadenoma. After lumpectomy, a definitive histological examination confirmed the intra-operative diagnosis of a benign mass. However, lobular intraepithelial neoplasia foci were found, surrounded by atypical lobular hyperplasia. Conclusions The possibility of an old benign breast lump might be supported by fine needle aspiration biopsy or core biopsy before initiating

  7. Lobular intraepithelial neoplasia arising within breast fibroadenoma.

    Science.gov (United States)

    Limite, Gennaro; Esposito, Emanuela; Sollazzo, Viviana; Ciancia, Giuseppe; Formisano, Cesare; Di Micco, Rosa; De Rosa, Dario; Forestieri, Pietro

    2013-07-12

    Fibroadenomas are the second most common breast pathology occurring in young women under the age of 35 years old. Fibroadenomas can be classified as simple or complex according to histological features. Complex fibroadenomas differ from simple fibroadenomas because of the presence of cysts (3 mm), sclerosing adenosis, epithelial calcifications, or papillary apocrine changes. Most fibroadenomas are clinically identifiable. In 25% of cases, fibroadenomas are non-palpable and are diagnosed with mammography and ultrasound. Differential diagnosis with well differentiated breast cancer is often necessary, particularly with medullary or mucinous tumors. Calcification findings within fibroadenomas by mammogram have to be investigated. The age of a lump is usually reflected by calcifications. Microcalcification can hide foci of carcinoma in situ when they are small, branching type, and heterogeneous. However, many morphological possibilities may not be reliable for deciding whether a certain calcification is the product of a malignant or a benign process. From a radiological point of view, fibroadenomas containing foci of carcinoma in situ can be indistinguishable from benign lesions, even if the incidence of carcinoma within fibroadenomas is estimated as 0.1-0.3%, and it could be a long-term risk factor for invasive breast cancer. A 44-year-old woman presented with a 1.5-cm palpable, smooth, mobile lump in the lower-inner quadrant of her right breast. Standard mediolateral oblique and craniocaudal mammograms showed a cluster of eccentric popcorn-like calcifications within the fibroadenoma. After lumpectomy, a definitive histological examination confirmed the intra-operative diagnosis of a benign mass. However, lobular intraepithelial neoplasia foci were found, surrounded by atypical lobular hyperplasia. The possibility of an old benign breast lump might be supported by fine needle aspiration biopsy or core biopsy before initiating follow-up. According to our experience

  8. Frequency of cervical intraepithelial neoplasia treatment in a well-screened population

    DEFF Research Database (Denmark)

    Barken, Sidsel Svennekjaer; Rebolj, Matejka; Andersen, Erik Søgaard

    2012-01-01

    Treatment of cervical intraepithelial neoplasia (CIN) detectable at screening has helped reduce the incidence of cervical cancer, but has also led to overtreatment. The estimates of overtreatment have often focused on a particular grade of CIN or age group. The aim of this paper was to provide...... rates. We estimated the frequency of CIN treatment per prevented cervical cancer case by comparing the cumulative life-time risk of CIN treatment from 1996 onward, with the difference in the cumulative life-time risks of cervical cancer in the prescreening and the screening periods. Since 1996, more...... a nationwide population-based estimate of the frequency of CIN treatment per prevented cervical cancer case in a well-screened population. We retrieved the data from the Danish National Population, Patient, Health Insurance, Pathology, and Cancer Registers, and calculated annual age-standardized CIN treatment...

  9. Testicular neoplasia in undescended testes of cryptorchid boys-does surgical strategy have an impact on the risk of invasive testicular neoplasia?

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, Jørgen Mogens; Petersen, Bodil Laub

    2004-01-01

    We investigated whether or not surgical strategy has an impact on the risk of invasive testicular neoplasia in cases of cryptorchidism. We made a database study of the incidence of testicular neoplasia at surgery for cryptorchidism in childhood, and evaluated if such abnormalities were found...... in special categories of patients, and also of the incidence of testicular neoplasia after orchiopexy with a simultaneous testicular biopsy in childhood. At surgery for cryptorchidism the risk of testicular neoplasia was 7/182 (4%) in cases with intra-abdominal testis, abnormal external genitalia other than......, p neoplasia was 7/830 (1%). The relative risk of testicular neoplasia was about 4. Conclusion: Based on our data and the literature we recommend: 1) Taking a testicular biopsy at surgery for cryptorchidism in childhood in intra-abdominally placed...

  10. White matter involvement in sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Caverzasi, Eduardo; Mandelli, Maria Luisa; DeArmond, Stephen J; Hess, Christopher P; Vitali, Paolo; Papinutto, Nico; Oehler, Abby; Miller, Bruce L; Lobach, Irina V; Bastianello, Stefano; Geschwind, Michael D; Henry, Roland G

    2014-12-01

    Sporadic Creutzfeldt-Jakob disease is considered primarily a disease of grey matter, although the extent of white matter involvement has not been well described. We used diffusion tensor imaging to study the white matter in sporadic Creutzfeldt-Jakob disease compared to healthy control subjects and to correlated magnetic resonance imaging findings with histopathology. Twenty-six patients with sporadic Creutzfeldt-Jakob disease and nine age- and gender-matched healthy control subjects underwent volumetric T1-weighted and diffusion tensor imaging. Six patients had post-mortem brain analysis available for assessment of neuropathological findings associated with prion disease. Parcellation of the subcortical white matter was performed on 3D T1-weighted volumes using Freesurfer. Diffusion tensor imaging maps were calculated and transformed to the 3D-T1 space; the average value for each diffusion metric was calculated in the total white matter and in regional volumes of interest. Tract-based spatial statistics analysis was also performed to investigate the deeper white matter tracts. There was a significant reduction of mean (P=0.002), axial (P=0.0003) and radial (P=0.0134) diffusivities in the total white matter in sporadic Creutzfeldt-Jakob disease. Mean diffusivity was significantly lower in most white matter volumes of interest (PCreutzfeldt-Jakob disease. Mean diffusivity reduction reflected concomitant decrease of both axial and radial diffusivity, without appreciable changes in white matter anisotropy. Tract-based spatial statistics analysis showed significant reductions of mean diffusivity within the white matter of patients with sporadic Creutzfeldt-Jakob disease, mainly in the left hemisphere, with a strong trend (P=0.06) towards reduced mean diffusivity in most of the white matter bilaterally. In contrast, by visual assessment there was no white matter abnormality either on T2-weighted or diffusion-weighted images. Widespread reduction in white matter mean

  11. Chemotherapy for resistant or recurrent gestational trophoblastic neoplasia.

    LENUS (Irish Health Repository)

    Alazzam, Mo'iad

    2012-12-01

    Gestational trophoblastic neoplasia (GTN) is a highly curable group of pregnancy-related tumours; however, approximately 25% of GTN tumours will be resistant to, or will relapse after, initial chemotherapy. These resistant and relapsed lesions will require salvage chemotherapy with or without surgery. Various salvage regimens are used worldwide. It is unclear which regimens are the most effective and the least toxic.

  12. Molecular diagnosis of multiple endocrine neoplasia type 2A

    African Journals Online (AJOL)

    1998-01-01

    Jan 1, 1998 ... R J Pegoraro, 0 J Hacking, R H Buck, L Rom,. P A Lanning, G M B Berger. Objective. To identify by means of genetic analyses individuals who are at risk of developing medullary thyroid cancer that is a component of multiple endocrine neoplasia. Subjects. A three-generation kindred with clinically and.

  13. RESEARCH Cervical intra-epithelial neoplasia in HIV-positive ...

    African Journals Online (AJOL)

    South Africa (SA) has a dual burden of cancer of the cervix and HIV infection.1,2 The prevalence of abnormal ... neoplasia (CIN), the risk of developing cancer is still 2.8 times greater than in the general population, and may be more ..... and duration of contraception use was not collected. A further limitation was that cytology ...

  14. Genetic diagnosis of a Chinese multiple endocrine neoplasia type ...

    Indian Academy of Sciences (India)

    Approximately 98% of patients with multiple endocrine neoplasia type 2A (MEN 2A) have an identifiable RETmutation. Prophylactic or early total thyroidectomy or pheochromocytoma/parathyroid removal in patients can bepreventative or curative and has become standard management. The general strategy for RET ...

  15. Cervical intra-epithelial neoplasia and invasive cervical cancer in ...

    African Journals Online (AJOL)

    The relative incidences of cervical intra-epithelial neoplasia (CIN) and invasive cervical cancer were studied in black and white patients at the academic hospitals of the University of the Orange Free State. A statistically highly significant difference was found between black and white patients, with a higher incidence of ...

  16. Pitfalls in the management of infantile renal neoplasia

    African Journals Online (AJOL)

    neoplasia. Nishith K. Jetley a. , Abdulla S. Al Helal a and Mufareh H. Al-Mazkary b. This article addresses questions posed by a renal mass in early infancy. Are changes required in the standard approach to a renal mass in this age group? Are diagnostic possibilities transformed enough to warrant a change of approach in a ...

  17. Genetic diagnosis of a Chinese multiple endocrine neoplasia type ...

    Indian Academy of Sciences (India)

    Zhen-Fang Du

    2017-05-11

    May 11, 2017 ... 3Department of Head and Neck Surgery, Zhejiang Cancer Hospital, 38 Guangji Road, Hangzhou 310022,. Zhejiang ... Keywords. Multiple endocrine neoplasia type 2A; polymorphisms; RET proto-oncogene; whole genome sequencing ... and 95% of patients carry RET germline mutations in codons.

  18. Nuclear Receptors and Multiple Endocrine Neoplasia type 1 (MEN1)

    NARCIS (Netherlands)

    Dreijerink, K.M.A.|info:eu-repo/dai/nl/311470238

    2009-01-01

    Multiple Endocrine Neoplasia type 1 (MEN1) is an inherited syndrome that is characterized by the occurrence of tumours of the parathyroid glands, gastroenteropancreatic tumours, pitui-tary gland adenomas, as well as adrenal adenomas and neuro-endocrine tumours, often at a young age. MEN1 tumours can

  19. Imaging Finding of Multiple Endocrine Neoplasia Type 1: Case Report

    International Nuclear Information System (INIS)

    Yum, Tae Jun; Cho, Hee Woo

    2012-01-01

    Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited syndrome with characteristic clinical and radiological manifestations. Many reports on MEN1 have been published; however, no cases of radiologically diagnosed MEN1 have been reported. Therefore, we report on a radiologically diagnosed case of MEN1 with clinical symptoms of gastroduodenal ulcer.

  20. Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas

    Energy Technology Data Exchange (ETDEWEB)

    Zedenius, J.; Svensson, A.; Baeckdahl, M.; Wallin, G. [Karolinska Hospital, Stockholm (Sweden)] [and others

    1995-10-01

    The hereditary multiple endocrine neoplasia syndromes types 2A and B (MEN 2A and B) were recently linked to germline mutations in the RET proto-oncogene, altering one of five cysteine residues in exon 10 or 11 (MEN 2A), or substituting a methionine for a threonine at codon 918 in exon 16 (MEN 2B). The latter mutation also occurs somatically in some sporadic medullary thyroid carcinomas (MTC), and has in a previous study been correlated with a less favorable clinical outcome. In the present study, 46 MTCs were selected for investigation of the codon 918 mutation. The mutation was found in 29 tumors (63%), and was significantly correlated with a poor outcome, with regard to distant metastasis or tumor recurrence (p<10{sup 4}). Two tumors showed multifocal growth and C-cell hyperplasia, and these patients were therefore also investigated for germline mutations in exons 10, 11 and 16. The codon 918 mutation was found only in the tumors, thus of somatic origin. The RET codon 918 mutation may have prognostic impact, and therefore preoperative assessment may influence decision-making in the treatment of patients suffering from MTC. 13 refs., 1 fig., 1 tab.

  1. The Role of Iron In Sporadic E Layers

    Science.gov (United States)

    Vondrak, T.; Woodcock, K. R. I.; Plane, J. M. C.

    Sporadic E layers in the lower thermosphere are mostly composed of metallic ions, of which Fe+ is the most abundant. Because dielectric recombination (Fe+ + elec- tron) is very slow, the lifetime of Fe+ above about 100 km is at least several days. However, below this height molecular ions such as FeO+, FeO2+ and FeN2+ form in- creasingly rapidly through reactions with O3, O2 and N2, respectively. These undergo rapid dissociative recombination with electrons, causing Fe+ to be neutralised increas- ingly rapidly as a sporadic E layer descends. Indeed, this is the most likely mechanism for the formation of the sporadic neutral Fe layers that are observed by lidar. However, atomic O plays a very important role in reducing these molecular ions back to Fe+, competing with dissociative recombination and thus slowing the rate at which Fe+ is neutralised and a sporadic E layer dissipates. This paper will discuss a laboratory and modelling study of the reactions of FeO+, FeO2+ and FeN2+ with atomic O. These reactions were studied (for the first time) in a fast flow tube, using the pulsed laser ablation of a rotating iron rod as the source of Fe+ ions in the upstream section of the tube. Reactants were then added to produce molecular ions, and atomic O further downstream through a movable injector. Fe+ and the molecular ions were detected at the downstream end of the tube using a two-stage quadrupole mass spectrometer. The spectroscopy of the FeO+ ion, observed by laser induced fluorescence, will also be discussed as a candidate for future ground-based lidar studies of the ion chemistry of the lower thermosphere.

  2. Measurements of the ionization heights of sporadic radio-meteors

    International Nuclear Information System (INIS)

    Baggaley, W.J.; Webb, T.H.

    1980-01-01

    The echo heights and echo point ionization densities of 4587 sporadic radio-meteors have been determined using a calibrated interferometric height-finding system. Over the height interval 92 to 96 km no association was found between height and ionization but, for radio-meteors ablating above and below this region, significant and opposite trends exist in the data. It is suggested that this could be evidence for the influx of two distinct meteoroid populations. (author)

  3. Microsatellite alterations at selected tetranucleotide repeats are associated with morphologies of colorectal neoplasias

    Science.gov (United States)

    Lee, Sun-Young; Chung, Heekyung; Devaraj, Bikash; Iwaizumi, Moriya; Han, Hye Seung; Hwang, Dae-Yong; Seong, Moo Kyung; Jung, Barbara H.; Carethers, John M.

    2010-01-01

    Background & Aims Elevated microsatellite alterations at selected tetranucleotide repeats (EMAST) occurs during microsatellite instability (MSI) that is not associated with major defects in DNA mismatch repair (MMR) but rather the reduced (heterogenous) expression of the MMR protein hMSH3; it occurs in sporadic colorectal tumors. We examined the timing of development of EMAST during progression of colorectal neoplasias and looked for correlations between EMAST and clinical and pathology features of tumors. Methods We evaluated tumor samples from a cohort of patients that had 24 adenomas and 84 colorectal cancers. EMAST were analyzed after DNA microdissection of matched normal and tumor samples using the polymorphic tetranucleotide microsatellite markers MYCL1, D9S242, D20S85, D8S321, and D20S82; data were compared with clinical and pathology findings. Traditional MSI analysis was performed and hMSH3 expression was measured. Results Moderately-differentiated adenocarcinomas and poorly-differentiated adenocarcinomas had higher frequencies of EMAST (56.9% and 40.0%, respectively) than well-differentiated adenocarcinomas (12.5%) or adenomas (33.3%) (P=0.040). In endoscopic analysis, ulcerated tumors had a higher frequency of EMAST (52.3%) than flat (44.0%) or protruded tumors (20.0%) (P=0.049). In quantification, all tumors with >3 tetranucleotide defects lost MSH3 (>75% of cells); nuclear heterogeneity of hMSH3 occurred more frequently in EMAST-positive (40.0%) than in EMAST-negative tumors (13.2%) (P=0.010). Conclusions EMAST is acquired during progression of adenoma and well-differentiated carcinomas to moderately and poorly differentiated carcinomas; it correlates with nuclear heterogeneity for hMSH3. Loss of hMSH3 corresponds with multiple tetranucleotide frameshifts. The association between EMAST and ulcerated tumors might result from increased inflammation. PMID:20708618

  4. Screening of hypoxia-inducible genes in sporadic ALS.

    LENUS (Irish Health Repository)

    Cronin, Simon

    2008-10-01

    Genetic variations in two hypoxia-inducible angiogenic genes, VEGF and ANG, have been linked with sporadic amyotrophic lateral sclerosis (SALS). Common variations in these genes may reduce the levels or functioning of their products. VEGF and ANG belong to a larger group of angiogenic genes that are up-regulated under hypoxic conditions. We hypothesized that common genetic variation across other members of this group may also predispose to sporadic ALS. To screen other hypoxia-inducible angiogenic genes for association with SALS, we selected 112 tagging single nucleotide polymorphisms (tgSNPs) that captured the common genetic variation across 16 VEGF-like and eight ANG-like hypoxia-inducible genes. Screening for association was performed in 270 Irish individuals with typical SALS and 272 ethnically matched unrelated controls. SNPs showing association in the Irish phase were genotyped in a replication sample of 281 Swedish sporadic ALS patients and 286 Swedish controls. Seven markers showed association in the Irish. The one modest replication signal observed in the Swedish replication sample, at rs3801158 in the gene inhibin beta A, was for the opposite allele vs. the Irish cohort. We failed to detect association of common variation across 24 candidate hypoxia-inducible angiogenic genes with SALS.

  5. Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

    Science.gov (United States)

    Amitrano, Sara; Marozza, Annabella; Somma, Serena; Imperatore, Valentina; Hadjistilianou, Theodora; De Francesco, Sonia; Toti, Paolo; Galimberti, Daniela; Meloni, Ilaria; Cetta, Francesco; Piu, Pietro; Di Marco, Chiara; Dosa, Laura; Lo Rizzo, Caterina; Carignani, Giulia; Mencarelli, Maria Antonietta; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca

    2015-11-01

    In about 50% of sporadic cases of retinoblastoma, no constitutive RB1 mutations are detected by conventional methods. However, recent research suggests that, at least in some of these cases, there is somatic mosaicism with respect to RB1 normal and mutant alleles. The increased availability of next generation sequencing improves our ability to detect the exact percentage of patients with mosaicism. Using this technology, we re-tested a series of 40 patients with sporadic retinoblastoma: 10 of them had been previously classified as constitutional heterozygotes, whereas in 30 no RB1 mutations had been found in lymphocytes. In 3 of these 30 patients, we have now identified low-level mosaic variants, varying in frequency between 8 and 24%. In 7 out of the 10 cases previously classified as heterozygous from testing blood cells, we were able to test additional tissues (ocular tissues, urine and/or oral mucosa): in three of them, next generation sequencing has revealed mosaicism. Present results thus confirm that a significant fraction (6/40; 15%) of sporadic retinoblastoma cases are due to postzygotic events and that deep sequencing is an efficient method to unambiguously distinguish mosaics. Re-testing of retinoblastoma patients through next generation sequencing can thus provide new information that may have important implications with respect to genetic counseling and family care.

  6. Stable and sporadic symbiotic communities of coral and algal holobionts

    Science.gov (United States)

    Hester, Eric R; Barott, Katie L; Nulton, Jim; Vermeij, Mark JA; Rohwer, Forest L

    2016-01-01

    Coral and algal holobionts are assemblages of macroorganisms and microorganisms, including viruses, Bacteria, Archaea, protists and fungi. Despite a decade of research, it remains unclear whether these associations are spatial–temporally stable or species-specific. We hypothesized that conflicting interpretations of the data arise from high noise associated with sporadic microbial symbionts overwhelming signatures of stable holobiont members. To test this hypothesis, the bacterial communities associated with three coral species (Acropora rosaria, Acropora hyacinthus and Porites lutea) and two algal guilds (crustose coralline algae and turf algae) from 131 samples were analyzed using a novel statistical approach termed the Abundance-Ubiquity (AU) test. The AU test determines whether a given bacterial species would be present given additional sampling effort (that is, stable) versus those species that are sporadically associated with a sample. Using the AU test, we show that coral and algal holobionts have a high-diversity group of stable symbionts. Stable symbionts are not exclusive to one species of coral or algae. No single bacterial species was ubiquitously associated with one host, showing that there is not strict heredity of the microbiome. In addition to the stable symbionts, there was a low-diversity community of sporadic symbionts whose abundance varied widely across individual holobionts of the same species. Identification of these two symbiont communities supports the holobiont model and calls into question the hologenome theory of evolution. PMID:26555246

  7. Ocular surface squamous neoplasia in Ibadan, Nigeria

    Directory of Open Access Journals (Sweden)

    Oluyemi Fasina

    2015-01-01

    Conclusion: OSSN occurs in younger individuals, and is strongly associated with HIV infection in our environment. Early diagnosis and intervention can prevent severe ocular morbidity. Wide surgical excision with intra-operative cryotherapy and adjuvant treatment with topical MMC post-operatively seem to give good outcome in our patients.

  8. Multiple endocrine neoplasia type 1-associated cystic pancreatic endocrine neoplasia and multifocal cholesterol granulomas.

    Science.gov (United States)

    Kimura, Noriko; Komuro, Kazuteru; Uchino, Shinya; Yagihashi, Soroku; Ishidate, Takuzo; Ishizaka, Masanori

    2010-04-01

    A novel combination of tumors was found in a 68 year-old female with Multiple Endocrine Neoplasia type-1 (MEN 1) that included a cystic pancreatic endocrine neoplasm (CPEN), a pituitary adenoma, and multifocal cholesterol granulomas (MCGs) in the breast, pleura, and the extremities. The pancreatic tumor displayed a single central locule surrounded by a thin rim of neoplastic parenchyma. The tumor showed heterogeneity in the architecture that included glandular, trabecular and solid patterns. The tumor cells of the pancreas were immunohistochemically positive for both endocrine and pancreatic acinar markers including chromogranin A, synaptophysin, glucagon, lipase, and reg protein. Electron microscopy revealed that there were numerous smaller dense-cored neurosecretory granules, larger zymogen-like granules and microvilli on the apical side of the tumor cells. The pancreatic tumor was diagnosed as CPEN with acinar cell features. Analysis of the DNA extracted from the tissues revealed that there is a MEN1 germline mutation in exon 10 codon 527, and somatic mutation in exon 2 codon 32 in the pancreatic tumor, and one base pair deletion in exon 2 codon 79 in the pituitary adenoma. Here, we report the case and discuss possible pathogenesis of CPEN and MCGs in a patient with MEN 1.

  9. Candidate SNP Markers of Familial and Sporadic Alzheimer's Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters

    Directory of Open Access Journals (Sweden)

    Petr Ponomarenko

    2017-07-01

    Full Text Available While year after year, conditions, quality, and duration of human lives have been improving due to the progress in science, technology, education, and medicine, only eight diseases have been increasing in prevalence and shortening human lives because of premature deaths according to the retrospective official review on the state of US health, 1990-2010. These diseases are kidney cancer, chronic kidney diseases, liver cancer, diabetes, drug addiction, poisoning cases, consequences of falls, and Alzheimer's disease (AD as one of the leading pathologies. There are familial AD of hereditary nature (~4% of cases and sporadic AD of unclear etiology (remaining ~96% of cases; i.e., non-familial AD. Therefore, sporadic AD is no longer a purely medical problem, but rather a social challenge when someone asks oneself: “What can I do in my own adulthood to reduce the risk of sporadic AD at my old age to save the years of my lifespan from the destruction caused by it?” Here, we combine two computational approaches for regulatory SNPs: Web service SNP_TATA_Comparator for sequence analysis and a PubMed-based keyword search for articles on the biochemical markers of diseases. Our purpose was to try to find answers to the question: “What can be done in adulthood to reduce the risk of sporadic AD in old age to prevent the lifespan reduction caused by it?” As a result, we found 89 candidate SNP markers of familial and sporadic AD (e.g., rs562962093 is associated with sporadic AD in the elderly as a complication of stroke in adulthood, where natural marine diets can reduce risks of both diseases in case of the minor allele of this SNP. In addition, rs768454929, and rs761695685 correlate with sporadic AD as a comorbidity of short stature, where maximizing stature in childhood and adolescence as an integral indicator of health can minimize (or even eliminate the risk of sporadic AD in the elderly. After validation by clinical protocols, these candidate SNP

  10. The impact of written information and counseling (WOMAN-PRO II Program) on symptom outcomes in women with vulvar neoplasia: A multicenter randomized controlled phase II study.

    Science.gov (United States)

    Raphaelis, Silvia; Mayer, Hanna; Ott, Stefan; Mueller, Michael D; Steiner, Enikö; Joura, Elmar; Senn, Beate

    2017-07-01

    To determine whether written information and/or counseling based on the WOMAN-PRO II Program decreases symptom prevalence in women with vulvar neoplasia by a clinically relevant degree, and to explore the differences between the 2 interventions in symptom prevalence, symptom distress prevalence, and symptom experience. A multicenter randomized controlled parallel-group phase II trial with 2 interventions provided to patients after the initial diagnosis was performed in Austria and Switzerland. Women randomized to written information received a predefined set of leaflets concerning wound care and available healthcare services. Women allocated to counseling were additionally provided with 5 consultations by an Advanced Practice Nurse (APN) between the initial diagnosis and 6months post-surgery that focused on symptom management, utilization of healthcare services, and health-related decision-making. Symptom outcomes were simultaneously measured 5 times to the counseling time points. A total of 49 women with vulvar neoplasia participated in the study. Symptom prevalence decreased in women with counseling by a clinically relevant degree, but not in women with written information. Sporadically, significant differences between the 2 interventions could be observed in individual items, but not in the total scales or subscales of the symptom outcomes. The results indicate that counseling may reduce symptom prevalence in women with vulvar neoplasia by a clinically relevant extent. The observed group differences between the 2 interventions slightly favor counseling over written information. The results justify testing the benefit of counseling thoroughly in a comparative phase III trial. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Multiple primary cutaneous melanomas in patients with FAMMM syndrome and sporadic atypical mole syndrome (AMS): what's worse?

    Science.gov (United States)

    Tchernev, Georgi; Ananiev, Julian; Cardoso, José-Carlos; Chokoeva, Anastasiya Atanasova; Philipov, Stanislav; Penev, Plamen Kolev; Lotti, Torello; Wollina, Uwe

    2014-08-01

    Atypical Mole Syndrome is the most important phenotypic risk factor for cutaneous melanoma, a malignancy that accounts for about 80% of deaths from skin cancer. Since early diagnosis of melanoma is of great prognostic relevance, the identification of Atypical Mole Syndrome carriers (sporadic and familial) is essential, as well as the recommendation of preventative measures that must be undertaken by these patients.We report two rare cases concerning patients with multiple primary skin melanomas in the setting of a familial and a sporadic syndrome of dysplastic nevi: the first patient is a 67-year-old patient with a history of multiple superficial spreading melanomas localized on his back. The second patient presented with multiple primary melanomas in advanced stage in the context of the so-called sporadic form of the syndrome of dysplastic nevi-AMS (atypical mole syndrome). In the first case, excision of the melanomas was carried out with an uneventful post-operative period. In the second case, disseminated metastases were detected, involving the right fibula, the abdominal cavity as well as multiple lesions in the brain. The patient declined BRAF mutation tests as well as chemotherapy or targeted therapies, and suffered a rapid deterioration in his general condition leading to death. We classified the second case as a sporadic form of the atypical mole syndrome, associated with one nodular and two superficial spreading melanomas.There are no data in the literature to allow us to understand if, in patients with multiple primary melanomas, there is any difference in terms of prognosis between those with and without a family history of a similar phenotype. To answer this and other questions related to these rare cases, further studies with a significant number of patients should be carried out.

  12. Clinical significance of farnesoid X receptor expression in thyroid neoplasia.

    Science.gov (United States)

    Giaginis, Constantinos; Tsoukalas, Nikolaos; Alexandrou, Paraskevi; Tsourouflis, Gerasimos; Dana, Eugene; Delladetsima, Ioanna; Patsouris, Efstratios; Theocharis, Stamatios

    2017-08-01

    To evaluate the clinical significance of farnesoid X receptor (FXR) in thyroid neoplasia. FXR expression was assessed immunohistochemically on 88 thyroid neoplastic tissues (benign = 44, malignant = 44). Enhanced FXR was more frequently observed in papillary carcinomas compared with hyperplastic nodules (p = 0.0489). In malignant lesions, elevated FXR was associated with capsular (p = 0.0004) and vascular invasion (p = 0.0056) and increased follicular cells' proliferative rate (p < 0.0001). Elevated FXR expression was also associated with larger tumor size (p = 0.0086), presence of lymph node metastases (p = 0.0239) and lymphatic invasion (p = 0.0086) and increased recurrence rate risk (p = 0.0239). FXR may be associated with tumor aggressiveness that affects patients' survival in thyroid neoplasia.

  13. Deregulation of microRNA expression in thyroid neoplasias.

    Science.gov (United States)

    Pallante, Pierlorenzo; Battista, Sabrina; Pierantoni, Giovanna Maria; Fusco, Alfredo

    2014-02-01

    MicroRNAs (miRNAs) have emerged as a class of powerful gene expression regulators. Acting at the post-transcriptional level, miRNAs modulate the expression of at least one-third of the mRNAs that are encoded by the human genome. The expression of a single gene can be regulated by several miRNAs, and every miRNA has more than one target gene. Thus, the miRNA regulatory circuit, which affects essential cellular functions, is of enormous complexity. Moreover, a fundamental role for miRNAs has been determined in the onset and progression of human cancers. Here, we summarize the main alterations in miRNA expression that have been identified in thyroid neoplasias and examine the mechanisms through which miRNA deregulation might promote thyroid cell transformation. We also discuss how the emerging knowledge on miRNA deregulation could be harnessed for the diagnosis and treatment of thyroid neoplasias.

  14. Neoplasias mamárias em canídeos

    OpenAIRE

    Lemos, Maria Madalena; Esteves, Fernando; Paiva, Rita Cruz; Santos, Carla Arede; Vala, Helena

    2016-01-01

    As neoplasias em pequenos animais têm grande relevância na clínica de animais de companhia, não só pela sua incidência crescente, como pela sua gravidade. O presente trabalho pretende ser uma revisão sobre o tema, associado a informações obtidas do Laboratório de Anatomia Patológica da Escola Superior Agrária de Viseu. As neoplasias mamárias têm maior incidência nas fêmeas, não esterilizadas, geriátricas, sendo raras em animais com menos de 7 anos. A maioria dos ...

  15. Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer

    Science.gov (United States)

    2012-01-01

    Background Cancers often arise within an area of cells (e.g. an epithelial patch) that is predisposed to the development of cancer, i.e. a "field of cancerization" or "field defect." Sporadic colon cancer is characterized by an elevated mutation rate and genomic instability. If a field defect were deficient in DNA repair, DNA damages would tend to escape repair and give rise to carcinogenic mutations. Purpose To determine whether reduced expression of DNA repair proteins Pms2, Ercc1 and Xpf (pairing partner of Ercc1) are early steps in progression to colon cancer. Results Tissue biopsies were taken during colonoscopies of 77 patients at 4 different risk levels for colon cancer, including 19 patients who had never had colonic neoplasia (who served as controls). In addition, 158 tissue samples were taken from tissues near or within colon cancers removed by resection and 16 tissue samples were taken near tubulovillous adenomas (TVAs) removed by resection. 568 triplicate tissue sections (a total of 1,704 tissue sections) from these tissue samples were evaluated by immunohistochemistry for 4 DNA repair proteins. Substantially reduced protein expression of Pms2, Ercc1 and Xpf occurred in field defects of up to 10 cm longitudinally distant from colon cancers or TVAs and within colon cancers. Expression of another DNA repair protein, Ku86, was infrequently reduced in these areas. When Pms2, Ercc1 or Xpf were reduced in protein expression, then either one or both of the other two proteins most often had reduced protein expression as well. The mean inner colon circumferences, from 32 resections, of the ascending, transverse and descending/sigmoid areas were measured as 6.6 cm, 5.8 cm and 6.3 cm, respectively. When combined with other measurements in the literature, this indicates the approximate mean number of colonic crypts in humans is 10 million. Conclusions The substantial deficiencies in protein expression of DNA repair proteins Pms2, Ercc1 and Xpf in about 1 million

  16. Tobacco, alcohol, and p53 overexpression in early colorectal neoplasia

    International Nuclear Information System (INIS)

    Terry, Mary Beth; Neugut, Alfred I; Mansukhani, Mahesh; Waye, Jerome; Harpaz, Noam; Hibshoosh, Hanina

    2003-01-01

    The p53 tumor suppressor gene is commonly mutated in colorectal cancer. While the effect of p53 mutations on colorectal cancer prognosis has been heavily studied, less is known about how epidemiologic risk factors relate to p53 status, particularly in early colorectal neoplasia prior to clinically invasive colorectal cancer (including adenomas, carcinoma in situ (CIS), and intramucosal carcinoma). We examined p53 status, as measured by protein overexpression, in 157 cases with early colorectal neoplasia selected from three New York City colonoscopy clinics. After collecting paraffin-embedded tissue blocks, immunohistochemistry was performed using an anti-p53 monoclonal mouse IgG 2 a [BP53-12-1] antibody. We analyzed whether p53 status was different for risk factors for colorectal neoplasia relative to a polyp-free control group (n = 508). p53 overexpression was found in 10.3%, 21.7%, and 34.9%, of adenomatous polyps, CIS, and intramucosal cases, respectively. Over 90% of the tumors with p53 overexpression were located in the distal colon and rectum. Heavy cigarette smoking (30+ years) was associated with cases not overexpressing p53 (OR = 1.8, 95% CI = 1.1–2.9) but not with those cases overexpressing p53 (OR = 1.0, 95% CI = 0.4–2.6). Heavy beer consumption (8+ bottles per week) was associated with cases overexpressing p53 (OR = 4.0, 95% CI = 1.3–12.0) but not with cases without p53 overexpression (OR = 1.6, 95% CI = 0.7–3.7). Our findings that p53 overexpression in early colorectal neoplasia may be positively associated with alcohol intake and inversely associated with cigarette smoking are consistent with those of several studies of p53 expression and invasive cancer, and suggest that there may be relationships of smoking and alcohol with p53 early in the adenoma to carcinoma sequence

  17. Multiple endocrine neoplasia type 2: achievements and current challenges

    Directory of Open Access Journals (Sweden)

    Andreas Machens

    2012-01-01

    Full Text Available Incremental advances in medical technology, such as the development of sensitive hormonal assays for routine clinical care, are the drivers of medical progress. This principle is exemplified by the creation of the concept of multiple endocrine neoplasia type 2, encompassing medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism, which did not emerge before the early 1960s. This review sets out to highlight key achievements, such as joint biochemical and DNA-based screening of individuals at risk of developing multiple endocrine neoplasia type 2, before casting a spotlight on current challenges which include: (i ill-defined upper limits of calcitonin assays for infants and young children, rendering it difficult to implement the biochemical part of the integrated DNA-based/biochemical concept; (ii our increasingly mobile society in which different service providers are caring for one individual at various stages in the disease process. With familial relationships disintegrating as a result of geographic dispersion, information about the history of the origin family may become sketchy or just unavailable. This is when DNA-based gene tests come into play, confirming or excluding an individual's genetic predisposition to multiple endocrine neoplasia type 2 even before there is any biochemical or clinical evidence of the disease. However, the unrivaled molecular genetic progress in multiple endocrine neoplasia type 2 does not come without a price. Screening may uncover unknown gene sequence variants representing either harmless polymorphisms or pathogenic mutations. In this setting, functional characterization of mutant cells in vitro may generate helpful ancillary evidence with regard to the pathogenicity of gene variants in comparison with established mutations.

  18. [Treatment of vulvar intra-epithelial neoplasias with Imiquimod].

    Science.gov (United States)

    Paternotte, J; Hebert, T; Ouldamer, L; Marret, H; Body, G

    2015-01-01

    The incidence of vulvar intra-epithelial neoplasia (VIN) is increasing in the developed countries especially in young women. There is little consensus regarding the optimal management. Surgery used to be the gold standard. Alternatives to surgery are now needed for the treatment of VIN. Many studies investigated the effectiveness of Imiquimod 5% cream in this pathology. We present a literature review of the results published on the subject. Copyright © 2015. Published by Elsevier SAS.

  19. Validity of Colposcopy in the Diagnosis of Early Cervical Neoplasia ...

    African Journals Online (AJOL)

    La colposcopie demeure un outil valable pour le diagnostic de la néoplasie cervicale précoce. Son rôle intégrant dans le traitement de la maladie cervicale précoce est donc justifié. (Rev Afr Santé Reprod 2002; 6[3]: 59-69) KEY WORDS: Colposcopy, cervical intraepithelial neoplasia, cervical cancer, colposcopic accuracy.

  20. Piroxicam decreases postirradiation colonic neoplasia in the rat

    International Nuclear Information System (INIS)

    Northway, M.G.; Scobey, M.W.; Cassidy, K.T.; Geisinger, K.R.

    1990-01-01

    This study evaluated the effects of the nonsteroidal antiinflammatory agent piroxicam on chronic radiation proctitis in the rat. Forty female Wistar rats received a 2250-cGy dose of irradiation to the distal 2 cm of the colon. Twenty received piroxicam 8.0 mg/kg orally 30 minutes before exposure and 24 hours after exposure; 20 rats served as irradiated controls. All animals were evaluated by colonoscopy 1 and 3 weeks postexposure and every third week until death or killing at 1 year. At killing, colons were removed for light microscopic examination. One year postirradiation results showed no differences in mortality, vascular changes, acute inflammation, colitis cystica profunda, or rectal stricture between the control and piroxicam-treated groups. However, at 1 year postirradiation the control group demonstrated neoplasia in 15 of 19 animals compared with eight of 20 animals in the piroxicam-treated group. The first endoscopic appearance of colonic neoplasm occurred at 15 weeks postirradiation in one control irradiated rat whereas the first evidence of endoscopic neoplasm in the piroxicam-treated group did not occur until 36 weeks postirradiation. Histologic examination documented a tendency toward a greater presence of adenocarcinomas in the control group compared with the piroxicam-treated group. The authors conclude that piroxicam treatment significantly decreased the incidence of colonic neoplasia in general as well as delayed the endoscopic appearance of colonic neoplasia in rats after pelvic irradiation. 41 references

  1. Piroxicam decreases postirradiation colonic neoplasia in the rat

    Energy Technology Data Exchange (ETDEWEB)

    Northway, M.G.; Scobey, M.W.; Cassidy, K.T.; Geisinger, K.R. (Wake Forest Univ., Winston Salem, NC (USA))

    1990-12-01

    This study evaluated the effects of the nonsteroidal antiinflammatory agent piroxicam on chronic radiation proctitis in the rat. Forty female Wistar rats received a 2250-cGy dose of irradiation to the distal 2 cm of the colon. Twenty received piroxicam 8.0 mg/kg orally 30 minutes before exposure and 24 hours after exposure; 20 rats served as irradiated controls. All animals were evaluated by colonoscopy 1 and 3 weeks postexposure and every third week until death or killing at 1 year. At killing, colons were removed for light microscopic examination. One year postirradiation results showed no differences in mortality, vascular changes, acute inflammation, colitis cystica profunda, or rectal stricture between the control and piroxicam-treated groups. However, at 1 year postirradiation the control group demonstrated neoplasia in 15 of 19 animals compared with eight of 20 animals in the piroxicam-treated group. The first endoscopic appearance of colonic neoplasm occurred at 15 weeks postirradiation in one control irradiated rat whereas the first evidence of endoscopic neoplasm in the piroxicam-treated group did not occur until 36 weeks postirradiation. Histologic examination documented a tendency toward a greater presence of adenocarcinomas in the control group compared with the piroxicam-treated group. The authors conclude that piroxicam treatment significantly decreased the incidence of colonic neoplasia in general as well as delayed the endoscopic appearance of colonic neoplasia in rats after pelvic irradiation. 41 references.

  2. [Radiofrequency in the treatment of the renal neoplasias].

    Science.gov (United States)

    Fiorini, Fulvio; Granata, Antonio; Mereghetti, Marco; D'Amelio, Alessandro; Meloni, Maria Franca

    2015-01-01

    The tumors of the kidney are around the 3% of the neoplasia in adult patients and, at the postmortem examination, the renal neoplasias has a frequency of 1/300 for tumors diameter of 1 to 2 cms. In the treatment of the small neoplasias, techniques of nephron sparing and enucleation are used. These techniques have shown the same therapeutic effectiveness of the radical nephrectomy in patients with tumors smaller than 4 centimeters, with reduction of morbidity. However, there are few clinical situation in which the surgery has a high risk: patients with solitary kidney, chronic renal failure, multiple localizations involving also contralateral kidney, in patients with other malignancies and in von Hippel-Lindau Syndrome. Recently, percutaneous mininvasive techniques have been applied (ex. thermoablation): these techniques allow to reduce the duration of general anesthesia, they offer the possibility to use spinal anaesthesia (besides deep sedation and general anaesthesia) with reduction in mortality during surgery. The most commonly used among interstitial therapies is the radiofrequency (RF), which changes electromagnetic waves into heat. RF used both tomography and ultrasound-guided. The latter is the most recommended because it allows to follow the procedure in real-time. The treatment of renal tumors with RF, in which surgery is inadvisable, is safe and effective especially in peripheral and/or exophytic lesions lower than 4 cm. However the larger tumors can also be treated successfully with combined therapy or multiple sessions.

  3. Application of quantitative DTI metrics in sporadic CJD

    Directory of Open Access Journals (Sweden)

    E. Caverzasi

    2014-01-01

    Full Text Available Diffusion Weighted Imaging is extremely important for the diagnosis of probable sporadic Jakob–Creutzfeldt disease, the most common human prion disease. Although visual assessment of DWI MRI is critical diagnostically, a more objective, quantifiable approach might more precisely identify the precise pattern of brain involvement. Furthermore, a quantitative, systematic tracking of MRI changes occurring over time might provide insights regarding the underlying histopathological mechanisms of human prion disease and provide information useful for clinical trials. The purposes of this study were: 1 to describe quantitatively the average cross-sectional pattern of reduced mean diffusivity, fractional anisotropy, atrophy and T1 relaxation in the gray matter (GM in sporadic Jakob–Creutzfeldt disease, 2 to study changes in mean diffusivity and atrophy over time and 3 to explore their relationship with clinical scales. Twenty-six sporadic Jakob–Creutzfeldt disease and nine control subjects had MRIs on the same scanner; seven sCJD subjects had a second scan after approximately two months. Cortical and subcortical gray matter regions were parcellated with Freesurfer. Average cortical thickness (or subcortical volume, T1-relaxiation and mean diffusivity from co-registered diffusion maps were calculated in each region for each subject. Quantitatively on cross-sectional analysis, certain brain regions were preferentially affected by reduced mean diffusivity (parietal, temporal lobes, posterior cingulate, thalamus and deep nuclei, but with relative sparing of the frontal and occipital lobes. Serial imaging, surprisingly showed that mean diffusivity did not have a linear or unidirectional reduction over time, but tended to decrease initially and then reverse and increase towards normalization. Furthermore, there was a strong correlation between worsening of patient clinical function (based on modified Barthel score and increasing mean diffusivity.

  4. Imaging and clinical characteristics of sporadic Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    HAN Shun-chang

    2013-04-01

    Full Text Available Five patients with sporadic Creutzfeldt-Jakob disease (sCJD presented rapidly progressive dementia which were subacute onset from 1 to 4 months. Among these cases, periodic synchronous discharge (PSD of electroencephalography (EEG was seen in 2 patients. Besides, 4 patients obtained positive results in cerebrospinal fluid (CSF analysis for 14-3-3 protein. The cranial MRI examination showed symmetrical or asymmetrical colored-ribbon-shaped high signals in cerebral cortex or basal ganglia by diffusion weighted imaging (DWI, suggesting that DWI had high sensitivity and specificity for the diagnosis of sCJD as a preferred method in the clinical examination of sCJD.

  5. Diffusion MR imaging in sporadic Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    Burcak Cakir Pekoz

    2014-08-01

    Full Text Available Creutzfeldt-Jakob disease (CJD is a rare dementing disease and is thought to caused by a prion. It is characterized by rapidly progressive dementia, ataxia, myoclonus, akinetic mutism and eventual death. Brain biopsy or autopsy is required for a definitive diagnosis of CJD. Diffusion-weighted imaging became an important tool for early diagnosis of CJD because of the high sensitivity. We present 59-year-old female patient diagnosed as sporadic CJD with typical MR imagings. [Cukurova Med J 2014; 39(4.000: 880-883

  6. The monster sporadic group and a theory underlying superstring models

    International Nuclear Information System (INIS)

    Chapline, G.

    1996-09-01

    The pattern of duality symmetries acting on the states of compactified superstring models reinforces an earlier suggestion that the Monster sporadic group is a hidden symmetry for superstring models. This in turn points to a supersymmetric theory of self-dual and anti-self-dual K3 manifolds joined by Dirac strings and evolving in a 13 dimensional spacetime as the fundamental theory. In addition to the usual graviton and dilaton this theory contains matter-like degrees of freedom resembling the massless states of the heterotic string, thus providing a completely geometric interpretation for ordinary matter. 25 refs

  7. Colorectal neoplasia in patients with primary sclerosing cholangitis undergoing liver transplantation

    DEFF Research Database (Denmark)

    Jørgensen, Kristin Kaasen; Lindström, Lina; Cvancarova, Milada

    2012-01-01

    OBJECTIVE: Several studies have implicated primary sclerosing cholangitis (PSC) as an additional risk factor for colorectal neoplasia in inflammatory bowel disease (IBD). Some reports have indicated that the risk is even higher in PSC-IBD patients after liver transplantation (Ltx), but this issue...... is controversial. We aimed to compare the risk of colorectal neoplasia in PSC-IBD patients before and after Ltx and to identify risk factors for colorectal neoplasia post-transplant. MATERIAL AND METHODS: In a multicenter study within the Nordic Liver Transplant Group, we assessed the risk of colorectal neoplasia......-one (25%) PSC-IBD patients developed colorectal neoplasia. The cumulative risk of colorectal neoplasia was higher after than before Ltx (HR: 1.9, 95% CI: 1.3-2.9, p = 0.002). A multivariate analysis demonstrated aminosalicylates and ursodeoxycholic acid as significantly associated with an increased risk...

  8. Biomarker expression in cervical intraepithelial neoplasia: potential progression predictive factors for low-grade lesions.

    Science.gov (United States)

    Ozaki, Satoru; Zen, Yoh; Inoue, Masaki

    2011-07-01

    The aim of this study was to reveal whether 3 biomarkers (p16INK4a, ProEx C, and human papilloma virus DNA) are useful in the diagnosis of cervical intraepithelial neoplasia and whether they could predict disease progression of cervical intraepithelial neoplasia-1. We analyzed 252 cervical specimens: nondysplastic mucosa (n = 9), cervical intraepithelial neoplasia (n = 229), and squamous cell carcinoma (n = 14). Immunostaining for p16INK4a and ProEx C, and the hybridcapture II assay for human papilloma virus DNA were performed. Expression of p16INK4a and staining for ProEx C were significantly higher in intraepithelial neoplasia 2/3 (96%-100%) than in nondysplastic mucosa (11%) or intraepithelial neoplasia 1 (40%-53%). Human papilloma virus DNA was detected in 69% of intraepithelial neoplasia-1, 95% of intraepithelial neoplasia-2, and 100% of intraepithelial neoplasia 3. Of 99 patients with intraepithelial neoplasia 1 for whom follow-up data was available, 62 (73%) showed spontaneous regression, 17 (20%) demonstrated persistent low-grade lesion, and 7 (7%) progressed to intraepithelial neoplasia 2/3. Expressions of p16INK4a and staining with ProEx C were significantly higher in the progression group than in the regression group. Testing for p16INK4a and ProEx C was sensitive (86%) and moderately specific (60% and 61%, respectively) in predicting the progression of cervical intraepithelial neoplasia 1. Human papilloma virus DNA testing was highly sensitive (100%) but less specific (37%). In conclusion, this study revealed that p16INK4a and ProEx C are useful biomarkers for the diagnosis of cervical intraepithelial neoplasia, and have potential as predictors of progression of low-grade lesions. Copyright © 2011 Elsevier Inc. All rights reserved.

  9. Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study.

    Science.gov (United States)

    Castinetti, Frederic; Qi, Xiao-Ping; Walz, Martin K; Maia, Ana Luiza; Sansó, Gabriela; Peczkowska, Mariola; Hasse-Lazar, Kornelia; Links, Thera P; Dvorakova, Sarka; Toledo, Rodrigo A; Mian, Caterina; Bugalho, Maria Joao; Wohllk, Nelson; Kollyukh, Oleg; Canu, Letizia; Loli, Paola; Bergmann, Simona R; Biarnes Costa, Josefina; Makay, Ozer; Patocs, Attila; Pfeifer, Marija; Shah, Nalini S; Cuny, Thomas; Brauckhoff, Michael; Bausch, Birke; von Dobschuetz, Ernst; Letizia, Claudio; Barczynski, Marcin; Alevizaki, Maria K; Czetwertynska, Malgorzata; Ugurlu, M Umit; Valk, Gerlof; Plukker, John T M; Sartorato, Paola; Siqueira, Debora R; Barontini, Marta; Szperl, Malgorzata; Jarzab, Barbara; Verbeek, Hans H G; Zelinka, Tomas; Vlcek, Petr; Toledo, Sergio P A; Coutinho, Flavia L; Mannelli, Massimo; Recasens, Monica; Demarquet, Lea; Petramala, Luigi; Yaremchuk, Svetlana; Zabolotnyi, Dmitry; Schiavi, Francesca; Opocher, Giuseppe; Racz, Karoly; Januszewicz, Andrzej; Weryha, Georges; Henry, Jean-Francois; Brue, Thierry; Conte-Devolx, Bernard; Eng, Charis; Neumann, Hartmut P H

    2014-05-01

    The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to improve patient outcomes. However, the other major neoplasia associated with multiple endocrine neoplasia type 2, phaeochromocytoma, is not as well characterised in terms of occurrence and treatment outcomes. In this study, we aimed to systematically characterise the outcomes of management of phaeochromocytoma associated with multiple endocrine neoplasia type 2. This multinational observational retrospective population-based study compiled data on patients with multiple endocrine neoplasia type 2 from 30 academic medical centres across Europe, the Americas, and Asia. Patients were included if they were carriers of germline pathogenic mutations of the RET gene, or were first-degree relatives with histologically proven medullary thyroid cancer and phaeochromocytoma. We gathered clinical information about patients'RET genotype, type of treatment for phaeochromocytoma (ie, unilateral or bilateral operations as adrenalectomy or adrenal-sparing surgery, and as open or endoscopic operations), and postoperative outcomes (adrenal function, malignancy, and death). The type of surgery was decided by each investigator and the timing of surgery was patient driven. The primary aim of our analysis was to compare disease-free survival after either adrenal-sparing surgery or adrenalectomy. 1210 patients with multiple endocrine neoplasia type 2 were included in our database, 563 of whom had phaeochromocytoma. Treatment was adrenalectomy in 438 (79%) of 552 operated patients, and adrenal-sparing surgery in 114 (21%). Phaeochromocytoma recurrence occurred in four (3%) of 153 of the operated glands after adrenal-sparing surgery after 6-13 years, compared with 11 (2%) of 717 glands operated by adrenalectomy (p=0.57). Postoperative adrenal insufficiency or steroid dependency developed in 292 (86%) of 339

  10. Early Diagnosis of Breast Cancer by Identifying Malignant Cells Within Neoplasias Histologically Classified as Benign

    National Research Council Canada - National Science Library

    Lelievre, Sophie A

    2005-01-01

    Current diagnostic tools permit the classification of breast neoplasias into categories that represent different relative risks of developing cancer, but they do not indicate which particular lesion...

  11. Slower Dynamics and Aged Mitochondria in Sporadic Alzheimer's Disease

    Science.gov (United States)

    Gargini, Ricardo; García, Esther; Perry, George

    2017-01-01

    Sporadic Alzheimer's disease corresponds to 95% of cases whose origin is multifactorial and elusive. Mitochondrial dysfunction is a major feature of Alzheimer's pathology, which might be one of the early events that trigger downstream principal events. Here, we show that multiple genes that control mitochondrial homeostasis, including fission and fusion, are downregulated in Alzheimer's patients. Additionally, we demonstrate that some of these dysregulations, such as diminished DLP1 levels and its mitochondrial localization, as well as reduced STOML2 and MFN2 fusion protein levels, take place in fibroblasts from sporadic Alzheimer's disease patients. The analysis of mitochondrial network disruption using CCCP indicates that the patients' fibroblasts exhibit slower dynamics and mitochondrial membrane potential recovery. These defects lead to strong accumulation of aged mitochondria in Alzheimer's fibroblasts. Accordingly, the analysis of autophagy and mitophagy involved genes in the patients demonstrates a downregulation indicating that the recycling mechanism of these aged mitochondria might be impaired. Our data reinforce the idea that mitochondrial dysfunction is one of the key early events of the disease intimately related with aging. PMID:29201274

  12. Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

    Directory of Open Access Journals (Sweden)

    Alexandra V Stavropoulou

    Full Text Available Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%. A variable incidence of mutations has been reported for these genes in ovarian cancer cases from different populations. In Greece, six mutations in BRCA1 account for 63% of all mutations detected in both BRCA1 and BRCA2 genes. This study aimed to determine the prevalence of BRCA1 mutations in a Greek cohort of 106 familial ovarian cancer patients that had strong family history or metachronous breast cancer and 592 sporadic ovarian cancer cases. All 698 patients were screened for the six recurrent Greek mutations (including founder mutations c.5266dupC, p.G1738R and the three large deletions of exon 20, exons 23-24 and exon 24. In familial cases, the BRCA1 gene was consequently screened for exons 5, 11, 12, 20, 21, 22, 23, 24. A deleterious BRCA1 mutation was found in 43/106 (40.6% of familial cancer cases and in 27/592 (4.6% of sporadic cases. The variant of unknown clinical significance p.V1833M was identified in 9/698 patients (1.3%. The majority of BRCA1 carriers (71.2% presented a high-grade serous phenotype. Identifying a mutation in the BRCA1 gene among breast and/or ovarian cancer families is important, as it enables carriers to take preventive measures. All ovarian cancer patients with a serous phenotype should be considered for genetic testing. Further studies are warranted to determine the prevalence of mutations in the rest of the BRCA1 gene, in the BRCA2 gene, and other novel predisposing genes for breast and ovarian cancer.

  13. BRCAness profile of sporadic ovarian cancer predicts disease recurrence.

    Directory of Open Access Journals (Sweden)

    Weiya Z Wysham

    Full Text Available The consequences of defective homologous recombination (HR are not understood in sporadic ovarian cancer, nor have the potential role of HR proteins other than BRCA1 and BRCA2 been clearly defined. However, it is clear that defects in HR and other DNA repair pathways are important to the effectiveness of current therapies. We hypothesize that a subset of sporadic ovarian carcinomas may harbor anomalies in HR pathways, and that a BRCAness profile (defects in HR or other DNA repair pathways could influence response rate and survival after treatment with platinum drugs. Clinical availability of a BRCAness profile in patients and/or tumors should improve treatment outcomes.To define the BRCAness profile of sporadic ovarian carcinoma and determine whether BRCA1, PARP, FANCD2, PTEN, H2AX, ATM, and P53 protein expression correlates with response to treatment, disease recurrence, and recurrence-free survival.Protein microarray analysis of ovarian cancer tissue was used to determine protein expression levels for defined DNA repair proteins. Correlation with clinical and pathologic parameters in 186 patients with advanced stage III-IV and grade 3 ovarian cancer was analyzed using Chi square, Kaplan-Meier method, Cox proportional hazard model, and cumulative incidence function.High PARP, FANCD2 and BRCA1 expressions were significantly correlated with each other; however, elevated p53 expression was associated only with high PARP and FANCD2. Of all patients, 9% recurred within the first year. Among early recurring patients, 41% had high levels of PARP, FANCD2 and P53, compared to 19.5% of patients without early recurrence (p = 0.04. Women with high levels of PARP, FANCD2 and/or P53 had first year cumulative cancer incidence of 17% compared with 7% for the other groups (P = 0.03.Patients with concomitantly high levels of PARP, FANCD2 and P53 protein expression are at increased risk of early ovarian cancer recurrence and platinum resistance.

  14. Proximity to Parental Symptom Onset and Amyloid-β Burden in Sporadic Alzheimer Disease.

    Science.gov (United States)

    Villeneuve, Sylvia; Vogel, Jacob W; Gonneaud, Julie; Pichet Binette, Alexa; Rosa-Neto, Pedro; Gauthier, Serge; Bateman, Randall J; Fagan, Anne M; Morris, John C; Benzinger, Tammie L S; Johnson, Sterling C; Breitner, John C S; Poirier, Judes

    2018-02-26

    Alzheimer disease (AD) develops during several decades. Presymptomatic individuals might be the best candidates for clinical trials, but their identification is challenging because they have no symptoms. To assess whether a sporadic parental estimated years to symptom onset calculation could be used to identify information about amyloid-β (Aβ) levels in asymptomatic individuals with a parental history of AD dementia. This cohort study analyzed Aβ1-42 in cerebrospinal fluid (CSF) specimens from 101 cognitively normal individuals who had a lumbar puncture as part of the Presymptomatic Evaluation of Novel or Experimental Treatments for Alzheimer Disease (PREVENT-AD) cohort from September 1, 2011, through November 30, 2016 (374 participants were enrolled in the cohort during this period). The study estimated each participant's proximity to his/her parent's symptom onset by subtracting the index relative's onset age from his/her current age. The association between proximity to parental symptom onset and Aβ levels was then assessed using apolipoprotein E ε4 (APOE4) status and sex as interactive terms. These analyses were performed again in 2 independent cohorts using CSF and Pittsburgh compound B carbon 11-labeled positron emission tomography (PIB-PET) Aβ biomarkers: the Adult Children Study (ACS) and the Wisconsin Registry for Alzheimer Prevention (WRAP) cohorts. The association between proximity to parental symptom onset and Aβ burden in asymptomatic individuals with a parental history of sporadic AD. The present analysis included a subset of 101 PREVENT-AD individuals (mean [SD] age, 61.8 [5.1] years; 30 [29.7%] male), 128 ACS participants (112 participants underwent CSF measurement: mean [SD] age, 63.4 [5.1] years; 31 [27.7%] male; and 107 underwent PIB-PET: mean [SD] age, 64.6 [5.3] years; 27 [25.2%] male), and 135 WRAP participants (85 participants underwent CSF measurement: mean [SD] age, 59.9 [6.0] years; 27 [31.8%] male; and 135 underwent PIB-PET: mean

  15. Targeting human papillomavirus to reduce the burden of cervical, vulvar and vaginal cancer and pre-invasive neoplasia: establishing the baseline for surveillance.

    Science.gov (United States)

    Nygård, Mari; Hansen, Bo Terning; Dillner, Joakim; Munk, Christian; Oddsson, Kristján; Tryggvadottir, Laufey; Hortlund, Maria; Liaw, Kai-Li; Dasbach, Erik J; Kjær, Susanne Krüger

    2014-01-01

    Infection with high-risk human papillomavirus (HPV) is causally related to cervical, vulvar and vaginal pre-invasive neoplasias and cancers. Highly effective vaccines against HPV types 16/18 have been available since 2006, and are currently used in many countries in combination with cervical cancer screening to control the burden of cervical cancer. We estimated the overall and age-specific incidence rate (IR) of cervical, vulvar and vaginal cancer and pre-invasive neoplasia in Denmark, Iceland, Norway and Sweden in 2004-2006, prior to the availability of HPV vaccines, in order to establish a baseline for surveillance. We also estimated the population attributable fraction to determine roughly the expected effect of HPV16/18 vaccination on the incidence of these diseases. Information on incident cervical, vulvar and vaginal cancers and high-grade pre-invasive neoplasias was obtained from high-quality national population-based registries. A literature review was conducted to define the fraction of these lesions attributable to HPV16/18, i.e., those that could be prevented by HPV vaccination. Among the four countries, the age-standardised IR/10⁵ of cervical, vaginal and vulvar cancer ranged from 8.4-13.8, 1.3-3.1 and 0.2-0.6, respectively. The risk for cervical cancer was highest in women aged 30-39, while vulvar and vaginal cancers were most common in women aged 70+. Age-standardised IR/10⁵ of cervical, vulvar and vaginal pre-invasive neoplasia ranged between 138.8-183.2, 2.5-8.8 and 0.5-1.3, respectively. Women aged 20-29 had the highest risk for cervical pre-invasive neoplasia, while vulvar and vaginal pre-invasive neoplasia peaked in women aged 40-49 and 60-69, respectively. Over 50% of the observed 47,820 incident invasive and pre-invasive cancer cases in 2004-2006 can be attributed to HPV16/18. In the four countries, vaccination against HPV 16/18 could prevent approximately 8500 cases of gynecological cancer and pre-cancer annually. Population-based cancer

  16. Neoplasias do intestino delgado: experiência de cinco anos

    Directory of Open Access Journals (Sweden)

    Antonio Cavalcanti de Albuquerque Martins

    Full Text Available OBJETIVO: Analisar a experiência do Serviço de Cirurgia Geral - HC/UFPE com os tumores do intestino delgado, na tentativa de colaborar com a definição de metas para o manejo dessas lesões. MÉTODO: Constitui-se este estudo em uma análise retrospectiva de12 pacientes portadores de neoplasias intestinais atendidos no SCG-HC/UFPE, no período de cinco anos (1994-1999. Sete eram do sexo masculino (58%. A média de idade à admissão foi de 52 anos. A principal queixa referida foi dor abdominal (83%, seguida por sangramento digestivo e perda ponderal (42%. Massa abdominal palpável foi evidenciada em 50% dos casos. Sete (58% apresentavam lesões malignas. Dentre as neoplasias benignas, quatro eram leiomiomas. Uma paciente, portadora de síndrome de Peutz-Jeghers, apresentou um hamartoma. Dez foram submetidos a tratamento operatório. Em seis, enterectomia com enteroanastomose foi empregada. Três foram operados em caráter de urgência (um por perfuração intestinal, um por enterorragia maciça e um por obstrução intestinal. RESULTADOS: A mortalidade relacionada à operação foi de 17%. Todos os pacientes que evoluíram para óbito apresentavam neoplasias malignas avançadas e perda ponderal superior a15% de seu peso. CONCLUSÕES: Tumores do intestino delgado são lesões incomuns, mesmo em serviços de referência. Um alto grau de suspeição deve ser mantido visando o diagnóstico precoce.

  17. Investigating work-related neoplasia associated with solar radiation.

    Science.gov (United States)

    Turner, S; Forman, S D; McNamee, R; Wilkinson, S M; Agius, R

    2015-01-01

    Both solar and non-solar exposures associated with occupation and work tasks have been reported as skin carcinogens. In the UK, there are well-established surveillance schemes providing relevant information, including when exposures took place, occupation, location of work and dates of symptom onset and diagnosis. To add to the evidence on work-related skin neoplasia, including causal agents, geographical exposure and time lag between exposure and diagnosis. This study investigated incident case reports of occupational skin disease originating from clinical specialists in dermatology reporting to a UK-wide surveillance scheme (EPIDERM) by analysing case reports of skin neoplasia from 1996 to 2012 in terms of diagnosis, employment, suspected causal agent and symptom onset. The suspected causal agent was 'sun/sunlight/ultraviolet light' in 99% of the reported work-related skin neoplasia cases. Most cases reported (91%) were in males, and the majority (62%) were aged over 65 at the time of reporting. More detailed information on exposure was available for 42% of the cases, with the median time from exposure to symptom onset ranging from 44 (melanoma) to 57 (squamous cell carcinoma) years. Irrespective of diagnostic category, the median duration of exposure to 'sun/sunlight/ultraviolet light' appeared longer where exposures occurred in the UK (range 39-51 years) rather than outside the UK (range 2.5-6.5 years). It is important to provide effective information about skin protection to workers exposed to solar radiation, especially to outdoor workers based outside the UK. © The Author 2014. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. Radiographically occult pulmonary metastases from gestational trophoblastic neoplasia

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    Tina Hong, MD

    2017-06-01

    Full Text Available Gestational trophoblastic neoplasia (GTN is a spectrum of diseases including partial and complete hydatidiform moles, placental site trophoblastic tumor, and choriocarcinoma. One of the most important considerations is recognition of the possibility of GTN after molar pregnancy or even normal pregnancy. It is common practice to use chest x-ray for the detection of pulmonary metastasis. Computed tomography imaging of the lungs is ordered if lung lesions are noted on chest x-rays. However, understanding the limitations of chest x-rays is important for detecting smaller pulmonary lesions. We present a patient with GTN and pulmonary metastasis after having received 2 negative chest x-rays.

  19. Tobacco, alcohol, and p53 overexpression in early colorectal neoplasia

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    Mansukhani Mahesh

    2003-11-01

    Full Text Available Abstract Background The p53 tumor suppressor gene is commonly mutated in colorectal cancer. While the effect of p53 mutations on colorectal cancer prognosis has been heavily studied, less is known about how epidemiologic risk factors relate to p53 status, particularly in early colorectal neoplasia prior to clinically invasive colorectal cancer (including adenomas, carcinoma in situ (CIS, and intramucosal carcinoma. Methods We examined p53 status, as measured by protein overexpression, in 157 cases with early colorectal neoplasia selected from three New York City colonoscopy clinics. After collecting paraffin-embedded tissue blocks, immunohistochemistry was performed using an anti-p53 monoclonal mouse IgG2a [BP53-12-1] antibody. We analyzed whether p53 status was different for risk factors for colorectal neoplasia relative to a polyp-free control group (n = 508. Results p53 overexpression was found in 10.3%, 21.7%, and 34.9%, of adenomatous polyps, CIS, and intramucosal cases, respectively. Over 90% of the tumors with p53 overexpression were located in the distal colon and rectum. Heavy cigarette smoking (30+ years was associated with cases not overexpressing p53 (OR = 1.8, 95% CI = 1.1–2.9 but not with those cases overexpressing p53 (OR = 1.0, 95% CI = 0.4–2.6. Heavy beer consumption (8+ bottles per week was associated with cases overexpressing p53 (OR = 4.0, 95% CI = 1.3–12.0 but not with cases without p53 overexpression (OR = 1.6, 95% CI = 0.7–3.7. Conclusion Our findings that p53 overexpression in early colorectal neoplasia may be positively associated with alcohol intake and inversely associated with cigarette smoking are consistent with those of several studies of p53 expression and invasive cancer, and suggest that there may be relationships of smoking and alcohol with p53 early in the adenoma to carcinoma sequence.

  20. A Unifying Hypothesis for Familial and Sporadic Alzheimer's Disease

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    Carole J. Proctor

    2012-01-01

    Full Text Available Alzheimer's disease (AD is characterised by the aggregation of two quite different proteins, namely, amyloid-beta (Aβ, which forms extracellular plaques, and tau, the main component of cytoplasmic neurofibrillary tangles. The amyloid hypothesis proposes that Aβ plaques precede tangle formation but there is still much controversy concerning the order of events and the linkage between Aβ and tau alterations is still unknown. Mathematical modelling has become an essential tool for generating and evaluating hypotheses involving complex systems. We have therefore used this approach to discover the most probable pathway linking Aβ and tau. The model supports a complex pathway linking Aβ and tau via GSK3β, p53, and oxidative stress. Importantly, the pathway contains a cycle with multiple points of entry. It is this property of the pathway which enables the model to be consistent with both the amyloid hypothesis for familial AD and a more complex pathway for sporadic forms.

  1. Physical function and muscle strength in sporadic inclusion body myositis

    DEFF Research Database (Denmark)

    Jørgensen, Anders N; Aagaard, Per; Nielsen, Jakob L

    2017-01-01

    INTRODUCTION: In this study, self-reported physical function, functional capacity, and isolated muscle function were investigated in sporadic inclusion body myositis (sIBM) patients. METHODS: The 36-item Short Form (SF-36) Health Survey and 2-min walk test (2MWT), timed up & go test (TUG), and 30-s...... chair stand performance were evaluated. In addition, patients were tested for knee extensor muscle strength (isokinetic dynamometer) and leg extension power (Nottingham power rig). RESULTS: TUG performance was the strongest predictor of self-reported physical function (r(2) = 0.56, P ... to sensitively predict self-perceived physical function in sIBM patients. Notably, between-limb asymmetry in lower limb muscle strength had a substantial negative impact on motor tasks involving gait function. Muscle Nerve, 2017....

  2. Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease.

    Science.gov (United States)

    Bagnoli, Silvia; Nacmias, Benedetta; Tedde, Andrea; Guarnieri, Bianca Maria; Cellini, Elena; Ciantelli, Monica; Petruzzi, Concetta; Bartoli, Antonella; Ortenzi, Luigi; Serio, Antonio; Sorbi, Sandro

    2002-08-16

    A recent study has shown that a genetic variation in the Cathepsin D (catD) gene is a major risk factor for the development of Alzheimer's disease (AD). CatD is an intracellular aspartyl protease involved in neurodegeneration. A C-->T (Ala-->Val) transition at position 224 has been associated with altered intracellular maturation. Recently, a significant overrepresentation of the T allele of the catD gene in AD patients compared with controls was reported. However, this finding has not yet been confirmed. We analyzed the distribution of catD and apolipoprotein E polymorphisms in Italian patients with sporadic and familial AD (FAD). Our studies revealed that the distribution of catD polymorphism did not differ in AD and FAD patients and controls. Thus, our data do not support a role for the catD gene as a genetic risk factor in the development of AD.

  3. Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®)—Health Professional Version

    Science.gov (United States)

    Endocrine and neuroendocrine neoplasias may be inherited in syndromes such as multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), familial pheochromocytoma and paraganglioma, and Carney-Stratakis syndrome. Learn about the genetics, clinical manifestations, and management of these hereditary cancer syndromes in this expert-reviewed summary.

  4. Myoepithelial cells: their origin and function in breast morphogenesis and neoplasia

    DEFF Research Database (Denmark)

    Gudjonsson, Thorarinn; Adriance, Melissa C; Sternlicht, Mark D

    2005-01-01

    and surrounding myoepithelial cells in normal breast morphogenesis and neoplasia. In this review we discuss data from our laboratories and from others regarding the cellular origin of human myoepithelial cells, their function in maintaining tissue polarity in the normal breast, and their role during neoplasia....

  5. Examination for intratubular germ cell neoplasia at operation for undescended testis in boys

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, Jørgen Mogens; Frisch, M

    1994-01-01

    A total of 843 consecutive boys (median age 12.7 years) who had undergone testicular biopsy at operation for undescended testis was followed into adulthood (median age 25.2 years) to examine for testicular germ cell neoplasia. Five cases of testicular germ cell neoplasia were identified, including...

  6. Levels of oxidative damage and lipid peroxidation in thyroid neoplasia.

    LENUS (Irish Health Repository)

    Young, Orla

    2012-02-01

    BACKGROUND: This study assessed the presence of oxidative damage and lipid peroxidation in thyroid neoplasia. METHODS: Using tissue microarrays and immunohistochemistry, we assessed levels of DNA damage (8-oxo-dG) and lipid peroxidation (4-HNE) in 71 follicular thyroid adenoma (FTA), 45 papillary thyroid carcinoma (PTC), and 17 follicular thyroid carcinoma (FTC) and matched normal thyroid tissue. RESULTS: Cytoplasmic 8-oxo-dG and 4-HNE expression was significantly higher in FTA, FTC, and PTC tissue compared to matched normal tissue (all p values < .001). Similarly, elevated nuclear levels of 8-oxo-dG were seen in all in FTA, FTC, and PTC tissue compared to matched normal (p values < .07, < .001, < .001, respectively). In contrast, a higher level of 4-HNE expression was detected in normal thyroid tissue compared with matched tumor tissue (p < .001 for all groups). Comparing all 3 groups, 4-HNE levels were higher than 8-oxo-dG levels (p < .001 for all groups) except that cytoplasmic levels of 8-oxo-dG were higher than 4-HNE in all (p < .001). These results were independent of proliferation status. CONCLUSION: High levels of DNA damage and lipid peroxidation in benign and malignant thyroid neoplasia indicates this damage is an early event that may influence disease progression.

  7. A Multiscale Model Evaluates Screening for Neoplasia in Barrett's Esophagus.

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    Kit Curtius

    2015-05-01

    Full Text Available Barrett's esophagus (BE patients are routinely screened for high grade dysplasia (HGD and esophageal adenocarcinoma (EAC through endoscopic screening, during which multiple esophageal tissue samples are removed for histological analysis. We propose a computational method called the multistage clonal expansion for EAC (MSCE-EAC screening model that is used for screening BE patients in silico to evaluate the effects of biopsy sampling, diagnostic sensitivity, and treatment on disease burden. Our framework seamlessly integrates relevant cell-level processes during EAC development with a spatial screening process to provide a clinically relevant model for detecting dysplastic and malignant clones within the crypt-structured BE tissue. With this computational approach, we retain spatio-temporal information about small, unobserved tissue lesions in BE that may remain undetected during biopsy-based screening but could be detected with high-resolution imaging. This allows evaluation of the efficacy and sensitivity of current screening protocols to detect neoplasia (dysplasia and early preclinical EAC in the esophageal lining. We demonstrate the clinical utility of this model by predicting three important clinical outcomes: (1 the probability that small cancers are missed during biopsy-based screening, (2 the potential gains in neoplasia detection probabilities if screening occurred via high-resolution tomographic imaging, and (3 the efficacy of ablative treatments that result in the curative depletion of metaplastic and neoplastic cell populations in BE in terms of the long-term impact on reducing EAC incidence.

  8. Scrotal neoplasia: would truck drivers be at greater risk?

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    Daniel Seabra

    2007-08-01

    Full Text Available OBJECTIVE: To analyze how scrotal neoplasias have been managed during the past decade and to question possible factors or professions associated to its presence. MATERIALS AND METHODS: We retrospectively evaluated every case reported from 1995 to 2005 at our hospital. We described the clinical scenario, complementary exams, treatments and outcomes. We also tried to verify if there was any risk, predisposing factors or professions that would explain the cancer origin. RESULTS: Six cases were reviewed. Out of these, three patients were truck drivers. Five of them showed restricted lesions without inguinal lymph nodes enlargement. Histologically, six patients presented squamous carcinoma, with two of them having the verrucous type. The median age of patients was 52 years old (31 to 89. The five patients who are still alive had their lesions completely removed with safety margin and primary closure. CONCLUSIONS: We have noticed that the scrotal carcinoma behavior is similar to that of the penis, where removal of the lesion and study of the regional lymph nodes help to increase the patient survival rate. The outstanding fact was that three out of six patients were truck drivers, raising the hypothesis that such profession, maybe due to the contact or attrition with the diesel exhaust expelled by the engine or to sexual promiscuity, would imply in a larger risk of developing this rare neoplasia.

  9. Synchronous high-risk melanoma and lymphoid neoplasia.

    LENUS (Irish Health Repository)

    Cahill, R A

    2012-02-03

    Large population-based studies have shown a significant association between melanoma and lymphoid neoplasia, particularly non-Hodgkin\\'s lymphoma (NHL) and chronic lymphocytic leukaemia (CLL), that is independent of any treatment received for the initial tumour. This study examines the presentation, diagnosis, treatment and progress of three patients who developed advanced melanoma concurrently with a lymphoid neoplasm (one NHL, two CLLs), in order to illustrate their association, discuss common aetiological factors and examine possible therapeutic options. As it is the melanoma rather than the lymphoid neoplasm that represents the bigger threat to overall survival, initial treatment should be targeted towards this cancer. However, because of the interplay between the diseases and the possible side-effects of the various treatments, the choice of adjuvant therapy requires careful consideration. Immunosuppression associated with chemotherapy may permit a more aggressive course for the melanoma, while locoregional radiotherapy is contraindicated following lymph node dissections. As immunotherapy is of benefit in the treatment of melanoma and has also been recently shown to be effective in the management of lymphoid neoplasia, we instituted interferon-alpha as adjuvant therapy for these patients, thereby utilizing a single agent to treat the dual pathologies. The three patients have now been followed-up for 6 months without evidence of disease recurrence or progression.

  10. Identifying Patients with Colon Neoplasias with Gas Discharge Visualization Technique.

    Science.gov (United States)

    Yakovleva, Ekaterina G; Buntseva, Olga A; Belonosov, Sergei S; Fedorov, Eugenii D; Korotkov, Konstantin; Zarubina, Tatiana V

    2015-11-01

    To perform an initial assessment of the potential of using the gas discharge visualization (GDV) technique to identify patients with colon neoplasias. The GDV camera (also known as the electrophotonic imaging camera) was used to assess the participants. Colonoscopy was performed on all 78 participants, followed by a GDV scan. The control group consisted of 22 people. An endoscopic examination identified colon tumors in the remaining 56 participants. Participant ages ranged from 45 to 86 years (mean, 64.6 ± 1.2 years). The study analyzed GDV images of each patient's fingers, presenting a whole-body view, as well as separate sectors corresponding to the organs in question. There was a significant number of differences between the control group and the patients with colon tumors. The dynamic of the parameters was examined as the level of tumor dysplasia (neoplasia) varied. The values of the following parameters decreased in the control group as compared to the patients with cancerous polyps: normalized luminescence area, internal noise, contour radius, and average luminescence intensity. The values of the following parameters increased in the control group: radius of the inscribed circle, contour line length, area of luminescence, contour line fractality, contour line entropy, and form coefficients. This pilot study demonstrated a statistical difference between the GDV parameters of patients with colon tumors and the control group. These findings warrant a more in-depth study of the potential for GDV technique in screening programs.

  11. Relationship Between Plasma Glucose Levels and Malignant Uterine Cervical Neoplasias

    Science.gov (United States)

    Nomelini, Rosekeila Simões; Neto, Adriano Souza Lima; Capuci, Kalebe Alexandre; Murta, Beatriz Martins Tavares; Murta, Eddie Fernando Candido

    2011-01-01

    Background: There is a direct correlation between glycemic load and the risk of developing many malignant neoplasms. Aims: The aim of this study was to determine the plasma glucose levels in women with cervical cancer. Methods: The study included 177 women with anatomopathologically diagnosed uterine cervical cancer (stages 0–IV) treated between 1980 and 2008 at the Gynecology and Obstetrics outpatient service of the UFTM, Brazil. The plasma glucose levels of all patients were assayed at the time of diagnosis and correlated with tumor staging. Results: We statistically compared the plasma glucose levels of group 1 (cervical intraepithelial neoplasia 2–3), group 2 (stage I–II), group 3 (stage III–IV), and group 4 (control group: leiomyomas). Patient groups with poor prognosis (groups 2 and 3) showed significantly higher plasma glucose levels (P 90 mg/dl showed CIN versus I/II: P = 0.0753; OR = 2.018; (95% CI: 0.9236 to 4.410) and CIN versus III/IV: P = 0.0975; OR = 2.400; (95% CI: 0.8335 to 6.911). Conclusion: We observed an association between high plasma glucose levels and cervical cancer cases with poor prognoses. Plasma glucose tests should be routinely used as additional prognostic parameters in patients with cervical neoplasias. PMID:21603242

  12. Fractal dimension and image statistics of anal intraepithelial neoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Ahammer, H., E-mail: helmut.ahammer@medunigraz.a [Institute of Biophysics, Center of Physiological Medicine, Medical University of Graz, Harrachgasse 21, A-8010 Graz (Austria); Kroepfl, J.M. [Human Performance Research Graz (HPR Graz), Karl-Franzens and Medical University of Graz, Max-Mell Allee 11, A-8010 Graz (Austria); Hackl, Ch. [Research Group of Applied Theoretical Pathology, Department of Pathology, Country Medical Centre St.Poelten, Propst Fuehrer Strasse 4, A-3100 St.Poelten (Austria); Sedivy, R. [Research Group of Applied Theoretical Pathology, Department of Pathology, Country Medical Centre St.Poelten, Propst Fuehrer Strasse 4, A-3100 St.Poelten (Austria); Department of Pathology, Country Medical Centre St.Poelten, Propst Fuehrer Strasse 4, A-3100 St.Poelten (Austria)

    2011-01-15

    Research Highlights: Human papillomaviruses cause anal intraepithelial neoplasia (AIN). Digital image processing was carried out to classify the grades of AIN quantitatively. The fractal dimension as well as grey value statistics was calculated. Higher grades of AIN yielded higher values of the fractal dimension. An automatic detection system is feasible. - Abstract: It is well known that human papillomaviruses (HPV) induce a variety of tumorous lesions of the skin. HPV-subtypes also cause premalignant lesions which are termed anal intraepithelial neoplasia (AIN). The clinical classification of AIN is of growing interest in clinical practice, due to increasing HPV infection rates throughout human population. The common classification approach is based on subjective inspections of histological slices of anal tissues with all the drawbacks of depending on the status and individual variances of the trained pathologists. Therefore, a nonlinear quantitative classification method including the calculation of the fractal dimension and first order as well as second order image statistical parameters was developed. The absolute values of these quantitative parameters reflected the distinct grades of AIN very well. The quantitative approach has the potential to decrease classification errors significantly and it could be used as a widely applied screening technique.

  13. Dietary habits of colorectal neoplasia patients in comparison to their first-degree relatives.

    Science.gov (United States)

    Kajzrlikova, Ivana Mikoviny; Vitek, Petr; Chalupa, Josef; Dite, Petr

    2014-05-07

    To compare the dietary habits between colorectal neoplasia patients, their first-degree relatives, and unrelated controls. From July 2008 to April 2011, we collected epidemiological data relevant to colorectal cancer from patients with colorectal neoplasias, their first-degree relatives, and also from a control group consisting of people referred for colonoscopy with a negative family history of colorectal cancer and without evidence of neoplasia after colonoscopic examination. The first-degree relatives were divided into two groups following the colonoscopic examination: (1) patients with neoplasia or (2) patients without neoplasia. Dietary habits of all groups were compared. A χ (2) test was used to assess the association between two dichotomous categorical variables. The study groups consisted of 242 patients with colorectal neoplasias (143 men, 99 women; mean age: 64 ± 12 years) and 160 first-degree relatives (66 men, 94 women; mean age: 48 ± 11 years). Fifty-five of the first-degree relatives were found to have a neoplastic lesion upon colonoscopy, while the remaining 105 were without neoplasia. The control group contained 123 individuals with a negative family history for neoplastic lesions (66 men, 57 women; mean age: 54 ± 12 years). Two hypotheses were tested. In the first, the dietary habits of first-degree relatives with neoplasia were more similar to those of patients with neoplasia, while the dietary habits of first-degree relatives without neoplasia were similar to those of the control group. In the second, no sex-related differences in dietary habits were expected between the particular groups. Indeed, no significant differences were observed in the dietary habits between the groups of patients, controls and first-degree relatives with/without neoplastic lesions. Nevertheless, statistically significant sex-related differences were observed in all groups, wherein women had healthier dietary habits than men. In all groups examined, women had

  14. [Diagnostic assessment of peritoneal fluid cytology in horses with abdominal neoplasia].

    Science.gov (United States)

    Recknagel, S; Nicke, M; Schusser, G F

    2012-04-24

    To evaluate the diagnostic value of peritoneal fluid (PF) cytology for clinical diagnosis of abdominal neoplasia in horses. Ten horses with histopathologically confirmed abdominal neoplasia, in which a PF analysis was performed, were included in this retrospective study. PF was analyzed for total protein concentration and a nucleated cell count was performed. Using cytological criteria of malignancy, the PF samples were evaluated regarding their probability of malignancy. Cytologic classification of cells according to criteria of malignancy allowed a positive cytologic diagnosis of neoplasia in 5 out of 10 peritoneal fluid samples. Malignant lymphoma was the most commonly diagnosed neoplasia (3/10) and could be identified by cytology in 2/3 cases. In 1/2 horses with plasma cell myeloma neoplastic cells were similarly found. Malignant melanoma (2/10) was diagnosed using cytology in one case (presence of melanin-containing cells). Cytological diagnosis of malignant neoplasia was established in the only horse with gastric squamous cell carcinoma, but the morphology of the identified tumour cells did not allow a specific diagnosis. Thus, a definitive diagnosis was achieved in 4/5 horses with proven abdominal neoplasia. The horses with adenocarcinoma (1/10) and haemangiosarcoma (1/10) had no evidence of neoplasia based on cytological findings. No relationship between total protein concentration or the nucleated cell count with the histolopathological diagnosis of abdominal neoplasia was found. Abnormal mitotic figures were considered of greater diagnostic value than the overall mitotic rate. The implementation of nuclear criteria of malignancy in the cytologic evaluation of PF samples allows the identification of neoplastic cells to an acceptable degree. For this purpose, the knowledge of the highly variable morphological features of mesothelial cells is essential. The absence of malignant cells does not rule out abdominal neoplasia. PF cytology should be considered as

  15. Quantitative attenuation analysis for identification of early Barrett's neoplasia in volumetric laser endomicroscopy

    Science.gov (United States)

    Swager, Anne-Fre; Faber, Dirk J.; de Bruin, Daniel M.; Weusten, Bas L.; Meijer, Sybren L.; Bergman, Jacques J.; Curvers, Wouter L.; van Leeuwen, Ton G.

    2017-08-01

    Early neoplasia in Barrett's esophagus (BE) is difficult to detect. Volumetric laser endomicroscopy (VLE) incorporates optical coherence tomography, providing a circumferential scan of the esophageal wall layers. The attenuation coefficient (μVLE) quantifies decay of detected backscattered light versus depth, and could potentially improve BE neoplasia detection. The aim is to investigate feasibility of μVLE for identification of early BE neoplasia. In vivo and ex vivo VLE scans with histological correlation from BE patients ± neoplasia were used. Quantification by μVLE was performed manually on areas of interest (AoIs) to differentiate neoplasia from nondysplastic (ND)BE. From ex vivo VLE scans from 16 patients (13 with neoplasia), 68 AoIs were analyzed. Median μVLE values (mm-1) were 3.7 [2.1 to 4.4 interquartile range (IQR)] for NDBE and 4.0 (2.5 to 4.9 IQR) for neoplasia, not statistically different (p=0.82). Fourteen in vivo scans were used: nine from neoplastic and five from NDBE patients. Median μVLE values were 1.8 (1.5 to 2.6 IQR) for NDBE and 2.1 (1.9 to 2.6 IQR) for neoplasia, with no statistically significant difference (p=0.37). In conclusion, there was no significant difference in μVLE values in VLE scans from early neoplasia versus NDBE. Future studies with a larger sample size should explore other quantitative methods for detection of neoplasia during BE surveillance.

  16. Pattern of Inflammation on Surveillance Colonoscopy Does Not Predict Development of Colitis-associated Neoplasia.

    Science.gov (United States)

    Jegadeesan, Ramprasad; Navaneethan, Udayakumar; Gutierrez, Norma G; Venkatesh, Preethi G K; Hammel, Jeffrey P; Sanaka, Madhusudhan R; Shen, Bo

    2016-09-01

    Identification of colonoscopic features which increase colitis-associated neoplasia risk in patients with ulcerative colitis (UC) may allow patient risk stratification. Our objective was to investigate whether colonoscopic features correlate with the risk of developing colitis-associated neoplasia in patients with UC on surveillance. In this retrospective case-control study, patients with UC who underwent surveillance colonoscopies from 1998 to 2011 were included. Patients with UC with neoplasia were compared with a matched control group of patients with UC without neoplasia in a 1:3 ratio. A total of 111 eligible patients with UC with colon neoplasia were compared with 356 patients with UC without colon neoplasia. On univariate analysis, colitis-associated neoplasia was associated with male gender (odds ratio [OR] = 2.58, 95% confidence interval [CI]: 1.71-3.89, P ≤ 0.001) and smoking history (OR = 1.62, 95% CI: 1.1-2.39, P = 0.045) but not with colonoscopic features, including tubular colon/shortened colon, scarring, segment of severe inflammation, inflammatory polyps, colonic stricture, or macroscopically normal appearance colonoscopy. In multivariate analysis, only male gender (OR = 2.68, 95% CI: 1.77-4.08, P ≤ 0.001) was found to be associated with an increased risk, whereas the use of 5-aminosalicylates was associated with a decreased risk for colitis-associated neoplasia (OR = 0.51, 95% CI: 0.31-0.84, P = 0.009). In patients with UC, colonoscopic features especially on standard-definition white-light colonoscopy did not appear to reliably predict the development of colitis-associated neoplasia. This will leave room for image-enhanced endoscopy technology and molecular markers for the early and accurate detection of colitis-associated neoplasia.

  17. Sporadic Ca and Ca+ layers at mid-latitudes: Simultaneous observations and implications for their formation

    Directory of Open Access Journals (Sweden)

    M. Gerding

    2001-01-01

    Full Text Available We report on the observations of 188 sporadic layers of either Ca atoms and/or Ca ions that we have observed during 112 nights of lidar soundings of Ca, and 58 nights of Ca+ soundings, at Kühlungsborn, Germany (54° N, 12° E. The Ca+ soundings have been performed simultaneously and in a common volume with the Ca soundings by two separate lidars. Correlations between sporadic neutral and ionized metal layers are demonstrated through four case studies. A systematic study of the variations of occurrence of sporadic Ca and Ca+ layers reveals that neutral and ionized Ca layers are not as closely correlated as expected earlier: (a The altitude distribution shows the simultaneous occurrence of both sporadic Ca and Ca+ layers to be most likely only in the narrow altitude range between 90 and 95 km. Above that region, in the lower thermosphere, the sporadic ion layers are much more frequent than atom layers. Below 90 km only very few sporadic layers have been observed; (b The seasonal variation of sporadic Ca layers exhibits a minimum of occurrence in summer, while sporadic Ca+ layers do not show a significant seasonal variation (only the dense Ca+ layers appear to have a maximum in summer. At mid-latitudes sporadic Ca layers are more frequent than sporadic layers of other atmospheric metals like Na or K. For the explanation of our observations new formation mechanisms are discussed.Key words. Ionosphere (ion chemistry and composition; ionosphere-atmosphere interactions; mid-latitude ionosphere

  18. Cancer driver-passenger distinction via sporadic human and dog cancer comparison: a proof of principle study with colorectal cancer

    Science.gov (United States)

    Tang, Jie; Li, Yaping; Lyon, Kenneth; Camps, Jordi; Dalton, Stephen; Ried, Thomas; Zhao, Shaying

    2014-01-01

    Herein we report a proof of principle study illustrating a novel dog-human comparison strategy that addresses a central aim of cancer research, namely cancer driver–passenger distinction. We previously demonstrated that sporadic canine colorectal cancers (CRCs) share similar molecular pathogenesis mechanisms as their human counterparts. In this study, we compared the genome-wide copy number abnormalities between 29 human- and 10 canine sporadic CRCs. This led to the identification of 73 driver candidate genes (DCGs), altered in both species and with 27 from the whole genome and 46 from dog-human genomic rearrangement breakpoint (GRB) regions, as well as 38 passenger candidate genes (PCGs), altered in humans only and located in GRB regions. We noted that DCGs significantly differ from PCGs in every analysis conducted to assess their cancer relevance and biological functions. Importantly, while PCGs are not enriched in any specific functions, DCGs possess significantly enhanced functionality closely associated with cell proliferation and death regulation, as well as with epithelial cell apicobasal polarity establishment/maintenance. These observations support the notion that, in sporadic CRCs of both species, cell polarity genes not only contribute in preventing cancer cell invasion and spreading, but also likely serve as tumor suppressors by modulating cell growth. This pilot study validates our novel strategy and has uncovered four new potential cell polarity and colorectal tumor suppressor genes (RASA3, NUPL1, DENND5A, and AVL9). Expansion of this study would make more driver-passenger distinctions for cancers with large genomic amplifications or deletions, and address key questions regarding the relationship between cancer pathogenesis and epithelial cell polarity control in mammals. PMID:23416983

  19. Prevalence and type distribution of human papillomavirus in squamous cell carcinoma and intraepithelial neoplasia of the vulva

    DEFF Research Database (Denmark)

    Faber, Mette T; Sand, Freja Lærke; Albieri, Vanna

    2017-01-01

    In this updated systematic review and meta-analysis, we estimate the pooled prevalence of human papillomavirus (HPV) DNA and HPV type distribution in squamous cell carcinoma of the vulva (vulvar cancer) and vulvar intraepithelial neoplasia (VIN). PubMed, Embase and Cochrane Library databases were...... samples. Thus, HPV vaccination targeting these HPV types may prevent a substantial number of vulvar lesions.......In this updated systematic review and meta-analysis, we estimate the pooled prevalence of human papillomavirus (HPV) DNA and HPV type distribution in squamous cell carcinoma of the vulva (vulvar cancer) and vulvar intraepithelial neoplasia (VIN). PubMed, Embase and Cochrane Library databases were......-study heterogeneity was observed (vulvar cancer: I2 = 88.4%; VIN: I2 = 90.7%) with the largest variation between geographical regions. Among HPV-positive cases, the predominant high-risk HPV type was HPV16, followed by HPV33 and HPV18. HPV6 was detected as a single infection in a small subset of VIN and vulvar cancer...

  20. Predictors of Preoperative Tinnitus in Unilateral Sporadic Vestibular Schwannoma

    Directory of Open Access Journals (Sweden)

    Georgios Naros

    2017-08-01

    Full Text Available ObjectiveNearly two-thirds of patients with vestibular schwannoma (VS are reporting a significantly impaired quality of life due to tinnitus. VS-associated tinnitus is attributed to an anatomical and physiological damage of the hearing nerve by displacing growth of the tumor. In contrast, the current pathophysiological concept of non-VS tinnitus hypothesizes a maladaptive neuroplasticity of the central nervous system to a (hidden hearing impairment resulting in a subjective misperception. However, it is unclear whether this concept fits to VS-associated tinnitus. This study aims to determine the clinical predictors of VS-associated tinnitus to ascertain the compatibility of both pathophysiological concepts.MethodsThis retrospective study includes a group of 478 neurosurgical patients with unilateral sporadic VS evaluated preoperatively regarding the occurrence of ipsilateral tinnitus depending on different clinical factors, i.e., age, gender, tumor side, tumor size (T1–T4 according to the Hannover classification, and hearing impairment (Gardner–Robertson classification, GR1–5, using a binary logistic regression.Results61.8% of patients complain about a preoperative tinnitus. The binary logistic regression analysis identified male gender [OR 1.90 (1.25–2.75; p = 0.002] and hearing impairment GR3 [OR 1.90 (1.08–3.35; p = 0.026] and GR4 [OR 8.21 (2.29–29.50; p = 0.001] as positive predictors. In contrast, patients with large T4 tumors [OR 0.33 (0.13–0.86; p = 0.024] and complete hearing loss GR5 [OR 0.36 (0.15–0.84; p = 0.017] were less likely to develop a tinnitus. Yet, 60% of the patients with good clinical hearing (GR1 and 25% of patients with complete hearing loss (GR5 suffered from tinnitus.ConclusionThese data are good accordance with literature about non-VS tinnitus indicating hearing impairment as main risk factor. In contrast, complete hearing loss appears a negative predictor for tinnitus. For the first

  1. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

    Science.gov (United States)

    Bayley, Jean-Pierre; Kunst, Henricus P M; Cascon, Alberto; Sampietro, Maria Lourdes; Gaal, José; Korpershoek, Esther; Hinojar-Gutierrez, Adolfo; Timmers, Henri J L M; Hoefsloot, Lies H; Hermsen, Mario A; Suárez, Carlos; Hussain, A Karim; Vriends, Annette H J T; Hes, Frederik J; Jansen, Jeroen C; Tops, Carli M; Corssmit, Eleonora P; de Knijff, Peter; Lenders, Jacques W M; Cremers, Cor W R J; Devilee, Peter; Dinjens, Winand N M; de Krijger, Ronald R; Robledo, Mercedes

    2010-04-01

    Paragangliomas and phaeochromocytomas are neuroendocrine tumours associated frequently with germline mutations of SDHD, SDHC, and SDHB. Previous studies have shown the imprinted SDHAF2 gene to be mutated in a large Dutch kindred with paragangliomas. We aimed to identify SDHAF2 mutation carriers, assess the clinical genetic significance of SDHAF2, and describe the associated clinical phenotype. We undertook a multicentre study in Spain and The Netherlands in 443 apparently sporadic patients with paragangliomas and phaeochromocytomas who did not have mutations in SDHD, SDHC, or SDHB. We analysed DNA of 315 patients for germline mutations of SDHAF2; a subset (n=200) was investigated for gross gene deletions. DNA from a group of 128 tumours was studied for somatic mutations. We also examined a Spanish family with head and neck paragangliomas with a young age of onset for the presence of SDHAF2 mutations, undertook haplotype analysis in this kindred, and assessed their clinical phenotype. We did not identify any germline or somatic mutations of SDHAF2, and no gross gene deletions were noted in the subset of apparently sporadic patients analysed. Investigation of the Spanish family identified a pathogenic germline DNA mutation of SDHAF2, 232G-->A (Gly78Arg), identical to the Dutch kindred. SDHAF2 mutations do not have an important role in phaeochromocytoma and are rare in head and neck paraganglioma. Identification of a second family with the Gly78Arg mutation suggests that this is a crucial residue for the function of SDHAF2. We conclude that SDHAF2 mutation analysis is justified in very young patients with isolated head and neck paraganglioma without mutations in SDHD, SDHC, or SDHB, and in individuals with familial antecedents who are negative for mutations in all other risk genes. Dutch Cancer Society, European Union 6th Framework Program, Fondo Investigaciones Sanitarias, Fundación Mutua Madrileña, and Red Temática de Investigación Cooperativa en Cáncer. 2010

  2. Sporadic cases of adult measles: a research article.

    Science.gov (United States)

    Premaratna, Ranjan; Luke, Nathasha; Perera, Harsha; Gunathilake, Mahesh; Amarasena, Pubudu; Chandrasena, T G A Nilmini

    2017-01-10

    Measles caused by a paramyxovirus, characterized by fever, malaise, cough, coryza conjunctivitis, a maculopapular rash is known to result in pneumonia, encephalitis and death. Fatal cases of measles in Sri Lanka are rare after implementation of the National Immunization Programme in 1984. Thereafter 0.1% case fatality rate was observed during October 1999-June 2000 which is a very low figure compared to other regional countries. Immunization guidelines were further revised in 2001, 2011 and in 2012 when additional immunization was recommended to age group 4-21 years; who are likely to have inadequate immunization, in order to achieve elimination of Measles by 2020. However, in 2013-2014, 4690 cases were reported and the majority were children less than 1 year of age. The occurrence in adults is hard to retrieve in published epidemiological reports, however had been 38% (out of 1008 patients) in the 3rd quarter of 2013. During this outbreak 73/101 (72%) reported from the North Central Province of Sri Lanka had been more than 12 years of age with 50% being more than 29 years. 14 Sri lankan adult patients [median age 32 years (range 25-48)] who presented sporadically from June 2014 to March 2016, with confirmed measles infection were enrolled retrospectively after informed consent. Details with regards to their clinical presentation, immunization and other relevant areas were collected using an interviewer administered questionnaire or using patient management records. The patients presented with high fever, headache, severe body aches, sore throat, dry cough, intense tearing, red eyes and posterior cervical lymphadenopathy over 3-5 days duration. Later they developed discrete maculopapular rash helping the diagnosis. They had a variable degree of leucopenia, lymphocytosis, thrombocytopenia and derangements in the liver functions mimicking any other acute febrile illnesses such as dengue, chikungunya, leptospirosis or Zika virus infection. At least a 3-5

  3. Microtopographic Inspection and Fractal Analysis of Skin Neoplasia

    Science.gov (United States)

    Costa, Manuel F. M.; Hipolito, Alberto Valencia; Gutierrez, Gustavo Fidel; Chanona, Jorge; Gallegos, Eva Ramón

    2008-04-01

    ) corresponding to some neoplasia is higher (1.334+/-0.072) than those for healthy skin (1.091+/-0.082). A significant difference between the fractal dimensions of neoplasia and healhty skin (>0.001) was registered. The FD of microtopography maps (FDm) can also distinguish between healthy and malignant tissue in general (2.277+/-0.070 to 2.309+/-0.040), but not discriminate the different types of skin neoplasias. The combination of the rugometric evaluation and fractal geometry characterization provides valuable information about the malignity of skin lesions and type of lesion.

  4. Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.

    Science.gov (United States)

    Romei, Cristina; Mariotti, Stefano; Fugazzola, Laura; Taccaliti, Augusto; Pacini, Furio; Opocher, Giuseppe; Mian, Caterina; Castellano, Maurizio; degli Uberti, Ettore; Ceccherini, Isabella; Cremonini, Nadia; Seregni, Ettore; Orlandi, Fabio; Ferolla, Piero; Puxeddu, Efisio; Giorgino, Francesco; Colao, Annamaria; Loli, Paola; Bondi, Fabio; Cosci, Barbara; Bottici, Valeria; Cappai, Antonello; Pinna, Giovanni; Persani, Luca; Verga, Uberta; Uberta, Verga; Boscaro, Marco; Castagna, Maria Grazia; Cappelli, Carlo; Zatelli, Maria Chiara; Faggiano, Antongiulio; Francia, Giuseppe; Brandi, Maria Luisa; Falchetti, Alberto; Pinchera, Aldo; Elisei, Rossella

    2010-08-01

    Multiple endocrine neoplasia type 2 (MEN 2) is a genetic disease characterized by medullary thyroid carcinoma (MTC) associated (MEN 2A and 2B) or not familial MTC (FMTC) with other endocrine neoplasia due to germline RET gene mutations. The prevalence of these rare genetic diseases and their corresponding RET mutations are unknown due to the small size of the study population. We collected data on germline RET mutations of 250 families with hereditary MTC followed in 20 different Italian centres. The most frequent RET amino acid substitution was Val804Met (19.6%) followed by Cys634Arg (13.6%). A total of 40 different germline RET mutations were present. Six families (2.4%) were negative for germline RET mutations. The comparison of the prevalence of RET germline mutations in the present study with those published by other European studies showed a higher prevalence of Val804Met and Ser891Ala mutations and a lower prevalence of Leu790Phe and Tyr791Phe (P<0.0001). A statistically significant higher prevalence of mutations affecting non-cysteine codons was also found (P<0.0001). Furthermore, the phenotype data collection showed an unexpected higher prevalence of FMTC (57.6%) with respect to other MEN 2 syndromes (34% MEN 2A and 6.8% of MEN 2B). In conclusion, we observed a statistically significant different pattern of RET mutations in Italian MEN 2 families with respect to other European studies and a higher prevalence of FMTC phenotype. The different ethnic origins of the patients and the particular attention given to analysing apparently sporadic MTC for RET germline mutations may explain these findings.

  5. CAMS newly detected meteor showers and the sporadic background

    Science.gov (United States)

    Jenniskens, P.; Nénon, Q.; Gural, P. S.; Albers, J.; Haberman, B.; Johnson, B.; Morales, R.; Grigsby, B. J.; Samuels, D.; Johannink, C.

    2016-03-01

    The Cameras for Allsky Meteor Surveillance (CAMS) video-based meteoroid orbit survey adds 60 newly identified showers to the IAU Working List of Meteor Showers (numbers 427, 445-446, 506-507, and part of 643-750). 28 of these are also detected in the independent SonotaCo survey. In total, 230 meteor showers and shower components are identified in CAMS data, 177 of which are detected in at least two independent surveys. From the power-law size frequency distribution of detected showers, we extrapolate that 36% of all CAMS-observed meteors originated from ∼700 showers above the N = 1 per 110,000 shower limit. 71% of mass falling to Earth from streams arrives on Jupiter-family type orbits. The transient Geminids account for another 15%. All meteoroids not assigned to streams form a sporadic background with highest detected numbers from the apex source, but with 98% of mass falling in from the antihelion source. Even at large ∼7-mm sizes, a Poynting-Robertson drag evolved population is detected, which implies that the Grün et al. collisional lifetimes at these sizes are underestimated by about a factor of 10. While these large grains survive collisions, many fade on a 104-y timescale, possibly because they disintegrate into smaller particles by processes other than collisions, leaving a more resilient population to evolve.

  6. Radiosurgical treatment of sporadic vestibular schwannomas: A prospective cohort study

    International Nuclear Information System (INIS)

    Martel V, Freddy; Iniguez S, Rodrigo; Venencia M, Daniel; Tagle M, Patricio; Besa D, Pelayo; Lorenzoni S, Jose

    2008-01-01

    Objective: To analyze the preliminary experience of radiosurgery for Vestibular Schwannomas at the Pontificia Universidad Catolica de Chile. Material and methods: The first 17 patients with sporadic Vestibular Schwannomas treated by radiosurgery at our institution are reported. The marginal dose used was 12 to 12.5 Gy. prescribed at the 70 or 80 isodose fine. Patients were controlled at 6, 12 and 24 months with magnetic resonance, audiometric study and clinical examination. Results: In all of the 17 patients treated a decrease tumor enhancement on MR was demonstrated. In 16 patients (94%) a pattern of central tumor necrosis was observed during the firs year Actuarial useful hearing was maintained in 62.5% at 2 year after treatment. Facial nerve function was maintained in all of the 15 patients with normal function at treatment (100%). Trigeminal function was maintained in ah of the 14 patients (100%) with previous normal trigeminal function. The mean time to return to work or normal activities was 11.5 days after treatment. Conclusions: These preliminary results are comparable with results published in the literature and reinforce the demonstrate role of radiosurgery in the management of vestibular schwannomas

  7. A review of drug therapy for sporadic fatal insomnia.

    Science.gov (United States)

    Tabaee Damavandi, Pardis; Dove, Martin T; Pickersgill, Richard W

    2017-09-03

    Sporadic fatal insomnia (sFI) is a rapid progressive neurodegenerative disease characterised by gradual to perpetual insomnia, followed by dysautonomia, coma and death. 1 The cause of sFI was recently mapped to a mutation in a protein, the prion, found in the human brain. It is the unfolding of the prion that leads to the generation of toxic oligomers that destroy brain tissue and function. Recent studies have confirmed that a methionine mutation at codon 129 of the human Prion is characteristic of sFI. Current treatment slows down the progression of the disease, but no cure has been found, yet. We used Molecular Docking and Molecular Dynamics simulation methods, to study the toxic Fatal-Insomnia-prion conformations at local unfolding. The idea was to determine these sites and to stabilise these regions against unfolding and miss-folding, using a small ligand, based on a phenothiazine "moiety". As a result we here discuss current fatal insomnia therapy and present seven novel possible compounds for in vitro and in vivo screening.

  8. Facing and managing natural disasters in the Sporades islands, Greece

    Science.gov (United States)

    Karanikola, P.; Panagopoulos, T.; Tampakis, S.; Karantoni, M. I.; Tsantopoulos, G.

    2014-04-01

    The region of the Sporades islands located in central Greece is at the mercy of many natural phenomena, such as earthquakes due to the marine volcano Psathoura and the rift of Anatolia, forest fires, floods, landslides, storms, hail, snowfall and frost. The present work aims at studying the perceptions and attitudes of the residents regarding how they face and manage natural disasters. A positive public response during a hazard crisis depends not only upon the availability and good management of a civil defense plan but also on the knowledge and perception of the possible hazards by the local population. It is important for the stakeholders to know what the citizens expect so that the necessary structures can be developed in the phase of preparation and organization. The residents were asked their opinion about what they think should be done by the stakeholders after a catastrophic natural disaster, particularly about the immediate response of stakeholders and their involvement and responsibilities at different, subsequent intervals of time following the disaster. The residents were also asked about the most common disasters that happen in their region and about the preparation activities of the stakeholders.

  9. [Lung transplantation in sporadic lymphangioleiomyomatosis: study of 7 cases].

    Science.gov (United States)

    Ansótegui Barrera, Emilio; Mancheño Franch, Nuria; Peñalver Cuesta, Juan Carlos; Vera-Sempere, Francisco; Padilla Alarcón, José

    2013-10-19

    Sporadic lymphangioleiomyomatosis (S-LAM) is a rare disease that affects only women. It is characterized by an abnormal proliferation of immature smooth muscle cells (LAM cells) that grow in an aberrant manner in the airway, parenchymal lung lymph and blood vessels, determining the onset of pulmonary cystic lesions. The disease has no treatment, progressing to respiratory failure, and lung transplantation (LT) may be a treatment option at this stage. Our goal was to study 7 patients undergoing LT for S-LAM. We studied a series of clinical and demographic characteristics, diagnostic modality and post-transplant outcomes. We performed a descriptive analysis of the series. The Kaplan-Meier method was used to estimate survival. The mean age of onset of symptoms was 35 years, the diagnosis of 37 years and that of LT 38 years. The most common symptom was dyspnea. Four patients had a history of pneumothorax and pleural effusion. The mean forced expiratory volume in one second was 32.7% and the diffusing capacity for carbon monoxide was 29%. All patients were subjected to LT and survival was 100, 85.7 and 57.1% at one, 3 and 5 years, respectively. Three died of bronchiolitis obliterans and 2 necropsies did not show evidence of disease recurrence. LT is a therapeutic option in patients with S-LAM with an advanced respiratory functional impairment. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  10. Thyroid Sporadic Goiter with Adult Heterotopic Bone Formation

    Directory of Open Access Journals (Sweden)

    Adriana Handra-Luca

    2015-01-01

    Full Text Available Thyroid heterotopic bone formation (HBF in goiter is a rare finding. Five thyroid resection specimens were analyzed for HBF. The results were correlated with clinicomorphological features. All patients were women (33–82 years. The preoperative diagnosis was thyroid goiter or nodule. Treatment consisted in thyroidectomy and lobectomy (3 and 2, resp.. Microscopy showed sporadic nodular goiter. Malformative blood vessels and vascular calcifications were seen in intra- and extrathyroid location (5 and 3, resp.. The number and size of HBFs (total: 28 ranged between 1 and 23/thyroid gland (one bilateral and 1 and 10 mm, respectively. Twelve HBFs were in contact with the thyroid capsule. Most were extranodular (21, versus 6 intranodular. The medical history was positive for dyslipidemia, hyperglycemia, renal dysfunction, and hyperuricemia (2, 3, and 3 cases and 1 case, resp. without any parathyroid abnormality. In conclusion, thyroid HBF may be characterized by subcapsular or extranodular location, various size (usually ≥2 mm, and vascular calcifications and malformations. Features of metabolic syndrome and renal dysfunction may be present, but their exact role in the pathogenesis of HBFs remains to be elucidated.

  11. Radiographic findings in cats with intranasal neoplasia or chronic rhinitis: 29 cases (1982-1988)

    International Nuclear Information System (INIS)

    O'Brien, R.T.; Evans, S.M.; Wortman, J.A.; Hendrick, M.J.

    1996-01-01

    Objective: To compare radiographic findings and determine useful criteria to differentiate between intranasal neoplasia and chronic rhinitis in cats. Design: Retrospective study. Animals: Cats with chronic nasal disease caused by neoplasia (n = 18) or by chronic rhinitis (n = 11). Procedure: Radiographs were reviewed by 3 radiologists, followed by group review. Diagnosis was determined by intranasal biopsy or necropsy, and specimens were reviewed by a pathologist to confirm cause and histologic diagnosis. Results: Lymphosarcoma was the most common (n = 5) of the 6 histopathologic types in the neoplasia group. Cats in the neoplasia and chronic rhinitis groups had a high prevalence of aggressive radiographic lesions. Prevalence of a facial mass in cats with neoplasia (8/18) versus in those with chronic rhinitis (4/11) and of deviation (9/18 vs 6/11, respectively) or lysis (12/18 vs 7/11) of the nasal septum was similar. However, significantly (P = 0.02) more cats with neoplasia than with chronic rhinitis (13/16 vs 3/7, respectively) had unilateral turbinate destruction/lysis. Additionally, unilateral lateral bone erosion and loss of teeth associated with adjacent intranasal disease were more prevalent in cats with neoplasia (7/8 and 5/18, respectively) than in cats with chronic rhinitis (1/3 and 0/11, respectively). Clinical Implications: Features that may assist in radiographic diagnosis of neoplasia include the appearance of unilateral aggressive lesions, such as lysis of lateral bones, nasal turbinate destruction, and loss of teeth. Bilaterally symmetric lesions are more suggestive of chronic rhinitis than of neoplasia

  12. Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1

    Directory of Open Access Journals (Sweden)

    Grzegorz Piecha

    2010-01-01

    Full Text Available Primary hyperparathyroidism may occur as a part of an inherited syndrome in a combination with pancreatic endocrine tumours and/or pituitary adenoma, which is classified as Multiple Endocrine Neoplasia type 1 (MEN-1. This syndrome is caused by a germline mutation in MEN-1 gene encoding a tumour-suppressor protein, menin. Primary hyperparathyroidism is the most frequent clinical presentation of MEN-1, which usually appears in the second decade of life as an asymptomatic hypercalcemia and progresses through the next decades. The most frequent clinical presentation of MEN-1-associated primary hyperparathyroidism is bone demineralisation and recurrent kidney stones rarely followed by chronic kidney disease. The aim of this paper is to present the pathomechanism, screening procedures, diagnosis, and management of primary hyperparathyroidism in the MEN-1 syndrome. It also summarises the recent advances in the pharmacological therapy with a new group of drugs—calcimimetics.

  13. Thyroid neoplasia following radiation therapy for Hodgkin's lymphoma

    International Nuclear Information System (INIS)

    McHenry, C.; Jarosz, H.; Calandra, D.; McCall, A.; Lawrence, A.M.; Paloyan, E.

    1987-01-01

    The question of thyroid neoplasia following high-dose radiation treatment to the neck and mediastinum for malignant neoplasms such as Hodgkin's lymphoma in children and young adults has been raised recently. Five patients, 19 to 39 years old, were operated on for thyroid neoplasms that developed following cervical and mediastinal radiation therapy for Hodgkin's lymphoma. Three patients had papillary carcinomas and two had follicular adenomas. The latency period between radiation exposure and the diagnosis of thyroid neoplasm ranged from eight to 16 years. This limited series provided strong support for the recommendation that children and young adults who are to receive high-dose radiation therapy to the head, neck, and mediastinum should receive suppressive doses of thyroxine prior to radiation therapy in order to suppress thyrotropin (thyroid-stimulating hormone) and then be maintained on a regimen of suppression permanently

  14. Myeloid Neoplasias: What Molecular Analyses Are Telling Us

    Science.gov (United States)

    Gutiyama, Luciana M.; Coutinho, Diego F.; Lipkin, Marina V.; Zalcberg, Ilana R.

    2012-01-01

    In the last decades, cytogenetic and molecular characterizations of hematological disorders at diagnosis and followup have been most valuable for guiding therapeutic decisions and prognosis. Genetic and epigenetic alterations detected by different procedures have been associated to different cancer types and are considered important indicators for disease classification, differential diagnosis, prognosis, response, and individualization of therapy. The search for new biomarkers has been revolutionized by high-throughput technologies. At this point, it seems that we have overcome technological barriers, but we are still far from sorting the biological puzzle. Evidence based on translational research is required for validating novel genetic and epigenetic markers for routine clinical practice. We herein discuss the importance of genetic abnormalities and their molecular pathways in acute myeloid leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms. We also discuss how novel genomic abnormalities may interact and reassess concepts and classifications of myeloid neoplasias. PMID:23056961

  15. Monosomal karyotype in myeloid neoplasias: a literature review.

    Science.gov (United States)

    Anelli, Luisa; Pasciolla, Crescenza; Zagaria, Antonella; Specchia, Giorgina; Albano, Francesco

    2017-01-01

    In 2008, the concept of the monosomal karyotype (MK) in adult acute myeloid leukemia (AML) patients was introduced, defined by the presence of a chromosomal aberration pattern characterized by the presence of at least two autosomal monosomies or of one monosomy plus one or more structural aberrations (not including loss of a chromosome). We present a systematic review of the literature about the influence of the MK on the outcome of patients affected by myeloid malignancies (AML, myelodysplastic syndromes, and primary myelofibrosis). For this review, a comprehensive literature search using the term "monosomal karyotype" was performed, considering articles listed in MEDLINE. This analysis of the literature confirms the negative prognostic impact on survival of the MK in myeloid neoplasias. The detrimental effect of MK on AML patients' outcome is independent of other variables, including adverse cytogenetic features, supporting the identification of this entity as a challenging subgroup of patients with distinct biologic and clinical features.

  16. Management of follow-up of neuroendocrine neoplasias.

    Science.gov (United States)

    Pape, Ulrich-Frank; Maasberg, Sebastian; Jann, Henning; Pschowski, René; Krüger, Sandrine; Prasad, Vikas; Denecke, Timm; Wiedenmann, Bertram; Pascher, Andreas

    2016-01-01

    Neuroendocrine neoplasias (NEN) comprise heterogeneous epithelial neoplasms with a large variety of clinical presentations, treatment options and outcomes. Since potentially all NEN bear malignant potential it is important for long-term clinical management and improvement of outcome to decide on successful and oncologically and economically meaningful follow-up strategies. Evidence-based outcome data validating specific follow-up strategies are, however, not available to date and thus outcome data, known prognostic factors and clinical experience guide the decisions on follow-up regimens. The review summarizes general recommendations as well as specific considerations based on tumor entities, clinicopathological tumor characteristics and clinical experience. Follow-up shall serve the patient to improve outcome, benefit from more effective therapies and suffer less from unnecessary and/or toxic therapeutic interventions and finally preserve or gain a good quality of life. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. A Metastatic Ovarian Angiosarcoma Mimicking Hematologic Neoplasia at Diagnosis

    Science.gov (United States)

    Gaiolla, Rafael Dezen; Duarte, Ívison Xavier; Bacchi, Carlos Eduardo; Paiva, Carlos Eduardo

    2014-01-01

    Angiosarcomas are rare aggressive neoplasms of vascular endothelial origin with a high metastatic rate and poor prognosis. Involvement of the bone marrow by the angiosarcoma is exceedingly uncommon, and there have only been a few cases reported in the literature to date. Clinical manifestations and common laboratory findings of bone marrow involvement can mimic other more common bone marrow-replacing neoplasias such as lymphomas and acute leukemia. A definitive diagnosis is difficult to make from cytologic material, probably due to an associated bone marrow fibrosis, and requires bone marrow trephine biopsy with an immunohistochemical profile. Here we had the opportunity to study a case of metastatic angiosarcoma with positive cytologic findings and an unusual presentation that challenged its primary diagnosis. PMID:24847252

  18. Metastização pulmonar de neoplasia da mama

    Directory of Open Access Journals (Sweden)

    Jorge Dionísio

    2002-03-01

    Full Text Available RESUMO: Para caracterizar os doentes com metastização pulmonar de neoplasia da mama, procedemos a um estudo retrospectivo dos processos de 129 doentes referenciados à Unidade de Pneumologia entre Julho de 1990 e Janeiro de 2000.Foi considerada a existência de metastização pulmonar em 89 casos.Avaliámos as manifestações clínicas apresentadas, o intervalo de tempo até ao diagnóstico de metastização pulmonar, os aspectos radiológicos, endoscópicos, as terapêuticas efectuadas e a sobrevida.O intervalo médio entre o diagnóstico da neoplasia da mama e o diagnóstico de metastização pulmonar foi de 81,9±5,7 meses. Os sintomas respiratórios foram referidos em 83,1% dos doentes. O padrão radiológico mais comum foi a presença de massas ou nódulos pulmonares (66,3%. Foram observadas 49 com sinais directos de neoplasia na broncofibroscopia. Em 47 os aspectos anatomopatológicos encontrados foram compatíveis com metastização endobrônquica de tumor da mamaO tratamento mais frequentemente utilizado após o diagnóstico de metástase pulmonar foi a quimioterapia, em 60,2% dos casos.Após o diagnóstico de metastização, a sobrevida mediana foi de 20,1 meses, com 63,4% dos doentes vivos ao fim de 1 ano.Nos doentes com carcinoma da mama e suspeita de metastização verificámos um grande intervalo livre entre o diagnóstico do tumor da mama e o aparecimento de metastização. Os sintomas respiratórios tra-duziram a grande frequência de envolvimento endobrônquico. O diagnóstico anatomopatológico de metastização pulmonar foi obtido em 52,8% dos doentes. A terapêutica mais utilizada após diagnóstico de metastização foi a quimioterapia e a sobrevida ao ano foi de 63,4%.REV PORT PNEUMOL 2002; VIII (2: ABSTRACT: We performed a retrospective study of 129 patients observed in Pneumology unit between July 1990 and January 2000 to evaluate the clinical, radiological and endoscopic patterns as well as the clinical evolution of

  19. Comparative Study of Prions in Iatrogenic and Sporadic Creutzfeldt-Jakob Disease

    Science.gov (United States)

    Xiao, Xiangzhu; Yuan, Jue; Qing, Liuting; Cali, Ignazio; Mikol, Jacqueline; Delisle, Marie-Bernadette; Uro-Coste, Emmanuelle; Zeng, Liang; Abouelsaad, Mai; Gazgalis, Dimitris; Martinez, Manuel Camacho; Wang, Gong-Xian; Brown, Paul; Ironside, James W.; Gambetti, Pierluigi; Kong, Qingzhong; Zou, Wen-Quan

    2014-01-01

    Differentiating iatrogenic Creutzfeldt-Jakob disease (iCJD) from sporadic CJD (sCJD) would be useful for the identification and prevention of human-to-human prion transmission. Currently, the diagnosis of iCJD depends on identification of a recognized source of contamination to which patients have been exposed, in addition to fulfilling basic requirements for the establishment of diagnosis of CJD. Attempts to identify differences in clinical manifestations, neuropathological changes and pathological prion protein (PrPSc) between iCJD and sCJD have been unsuccessful. In the present study, using a variety of more sophisticated methods including sucrose step gradient sedimentation, conformational stability immunoassay, protein misfolding cyclic amplification (PMCA), fragment-mapping, and transmission study, we show no significant differences in gel profiles, oligomeric state, conformational stability and infectivity of PrPSc between iCJD and sCJD. However, using PMCA, we find that convertibility and amplification efficiency of PrPSc is greater in iCJD than in sCJD in a polymorphism-dependent manner. Moreover, two protease-resistant PrP C-terminal fragments (termed PrP-CTF12/13) were detected in all 9 cases of sCJD but not in 6 of 8 cases of iCJD tested in this study. The use of fragment mapping- and PMCA-based assays thus provides a means to distinguish most cases of iCJD from sCJD. PMID:25419482

  20. Seasonal correlation of sporadic schizophrenia to Ixodes ticks and Lyme borreliosis

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    Fritzsche Markus

    2002-11-01

    Full Text Available Abstract Background Being born in winter and spring is considered one of the most robust epidemiological risk factors for schizophrenia. The aetiology and exact timing of this birth excess, however, has remained elusive so far. Since during phylogeny, Borrelia DNA has led to multiple germ-line mutations within the CB1 candidate gene for schizophrenia, a meta analysis has been performed of all papers on schizophrenic birth excesses with no less than 3000 cases each. All published numerical data were then plotted against the seasonal distributions of Ixodes ticks worldwide. Results In the United States, Europe and Japan the birth excesses of those individuals who later in life develop schizophrenia mirror the seasonal distribution of Ixodes ticks nine months earlier at the time of conception. South of the Wallace Line, which limits the spread of Ixodes ticks and Borrelia burgdorferi into Australia, seasonal trends are less significant, and in Singapore, being non-endemic for Ixodes ticks and Lyme disease, schizophrenic birth excesses are absent. Conclusion At present, it cannot be excluded that prenatal infection by B. burgdorferi is harmful to the implanting human blastocyst. The epidemiological clustering of sporadic schizophrenia by season and locality rather emphasises the risk to the unborn of developing a congenital, yet preventable brain disorder later in life.

  1. Lympho-vascular invasion in BRCA related breast cancer compared to sporadic controls

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    van der Wall Elsken

    2010-04-01

    Full Text Available Abstract Background Germline mutations in the BRCA1 gene predispose to the development of breast cancer, exhibiting a specific histological phenotype. Identification of possible hallmarks of these tumors is important for selecting patients for genetic screening and provides inside in carcinogenetic pathways. Since BRCA1-associated breast cancers have pushing borders that prevent them from easily reaching vessels and are often of the medullary (like type that is known to have a low rate of lympho-vascular invasion (LVI, we hypothesized that absence of LVI could characterize BRCA1 related breast cancer. Methods A population of 68 BRCA1 related invasive breast cancers was evaluated for LVI by an experienced breast pathologist blinded to mutation status, and compared to a control group matched for age, grade and tumor type. Results LVI was present in 25.0% of BRCA1 related cases, compared to 20.6% of controls (P = 0.54, OR = 1.29, CI 0.58-2.78. Conclusion LVI is frequent in BRCA1 germline mutation related breast cancers, but seems to occur as often in sporadic controls matched for age, grade and tumor type. Apparently, these hereditary cancers find their way to the blood and lymph vessels despite their well demarcation and often medullary differentiation.

  2. Rare circulating microRNAs as biomarkers of colorectal neoplasia.

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    Scott V Adams

    Full Text Available MicroRNAs (miRNAs are regulatory RNAs, stable in circulation, and implicated in colorectal cancer (CRC etiology and progression. Therefore they are promising as early detection biomarkers of colorectal neoplasia. However, many circulating miRNAs are highly expressed in blood cells, and therefore may not be specific to colorectal neoplasia.We selected 7 miRNA candidates with previously reported elevated expression in adenoma tissue but low expression in blood cells ("rare" miRNAs, 2 previously proposed as adenoma biomarkers, and 3 implicated in CRC. We conducted a colonoscopy-based case-control study including 48 polyp-free controls, 43 advanced adenomas, 73 non-advanced adenomas, and 8 CRC cases. miRNAs from plasma were quantified by qRT-PCR. Correlations between miRNA expression levels, adjusted for age and sex, were assessed. We used polytomous logistic regression to estimate odds ratios (ORs and 95% confidence intervals quantifying the association between expression levels of miRNAs and case groups. We also conducted nonparametric receiver operating characteristic (ROC analyses and estimated area under the curve (AUC.miRNAs with high expression levels were statistically significantly correlated with one another. No miRNAs were significantly associated with non-advanced or advanced adenomas. Strong (ORs >5 and significant associations with CRC were observed for 6 miRNA candidates, with corresponding AUCs significantly >0.5.These candidate miRNAs, assayed by qRT-PCR, are probably unsuitable as blood-based adenoma biomarkers. Strong associations between miRNAs and CRC were observed, but primarily with miRNAs highly expressed in blood cells. These results suggest that rare miRNAs will require new detection methods to serve as circulating biomarkers of adenomas.

  3. Advanced colorectal neoplasia risk stratification by penalized logistic regression.

    Science.gov (United States)

    Lin, Yunzhi; Yu, Menggang; Wang, Sijian; Chappell, Richard; Imperiale, Thomas F

    2016-08-01

    Colorectal cancer is the second leading cause of death from cancer in the United States. To facilitate the efficiency of colorectal cancer screening, there is a need to stratify risk for colorectal cancer among the 90% of US residents who are considered "average risk." In this article, we investigate such risk stratification rules for advanced colorectal neoplasia (colorectal cancer and advanced, precancerous polyps). We use a recently completed large cohort study of subjects who underwent a first screening colonoscopy. Logistic regression models have been used in the literature to estimate the risk of advanced colorectal neoplasia based on quantifiable risk factors. However, logistic regression may be prone to overfitting and instability in variable selection. Since most of the risk factors in our study have several categories, it was tempting to collapse these categories into fewer risk groups. We propose a penalized logistic regression method that automatically and simultaneously selects variables, groups categories, and estimates their coefficients by penalizing the [Formula: see text]-norm of both the coefficients and their differences. Hence, it encourages sparsity in the categories, i.e. grouping of the categories, and sparsity in the variables, i.e. variable selection. We apply the penalized logistic regression method to our data. The important variables are selected, with close categories simultaneously grouped, by penalized regression models with and without the interactions terms. The models are validated with 10-fold cross-validation. The receiver operating characteristic curves of the penalized regression models dominate the receiver operating characteristic curve of naive logistic regressions, indicating a superior discriminative performance. © The Author(s) 2013.

  4. Neoplasias de Cavidad nasal y senos paranasales en caninos

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    Giovanni Torres

    2008-10-01

    Full Text Available Las neoplasias de cavidad nasal y senos paranasales en caninos son de escasa presentación; llegan tan sóloal 1.5% de los quistes diagnosticados en esta especie.Con referencia al total de tumores del tracto respiratorio representan entre el 60 y el 80%. Son más comunes en caninos de nariz larga, no existe predilección por género; por el comportamiento, las neoplasias que se desarrollanen la cavidad nasal y senos paranasales son benignas y malignas, siendo estas últimas las más frecuentes. Teniendo en cuenta el tejido de origen pueden ser epiteliales, mesenquimales y de otro origen como los linfomas y el tumor venéreo transmisible. La apariciónde la sintomatología se asocia con la capacidad de obstruir las vías aéreas, la invasión y destrucción local de tejido. En general los signos clínicos asociados consistenen: dificultad respiratoria, estornudo, secreciónnasal, hemorragia nasal y la presencia de masas de características variadas en tamaño y forma. El diagnóstico se basa en signos clínicos, evaluación citológica e histológica de las lesiones. Esta última es 100% diagnóstica, para el tratamiento se utiliza la extracción quirúrgica combinada con terapia de radiación y quimioterapia.

  5. Diazepam during endoscopic submucosal dissection of gastric epithelial neoplasias

    Science.gov (United States)

    Muraki, Yosuke; Enomoto, Shotaro; Iguchi, Mikitaka; Niwa, Toru; Maekita, Takao; Yoshida, Takeichi; Moribata, Kosaku; Shingaki, Naoki; Deguchi, Hisanobu; Ueda, Kazuki; Inoue, Izumi; Tamai, Hideyuki; Kato, Jun; Fujishiro, Mitsuhiro; Ichinose, Masao

    2012-01-01

    AIM: To investigate risk factors and adverse events related to high-dose diazepam administration during endoscopic submucosal dissection for gastric neoplasias. METHODS: Between February 2002 and December 2009, a total of 286 patients with gastric epithelial neoplasia underwent endoscopic submucosal dissection in our hospital. To achieve moderate sedation, 5-7.5 mg of diazepam was administered intravenously by non-anesthesiologists. Intermittent additional administration of 2.5-5 mg diazepam was performed if uncontrollable body movement of the patient was observed. All patients were classified into groups based on the required diazepam dose: low-dose (≤ 17.5 mg, n = 252) and high-dose (> 17.5 mg, n = 79). RESULTS: Differences between the low- and high-dose diazepam groups were observed in lifetime alcohol consumption (0.30 ± 0.48 vs 0.44 ± 0.52 tons, P = 0.032), body weight (58.4 ± 10.3 vs 62.0 ± 9.9 kg, P = 0.006), tumor size (15 ± 10 vs 23 ± 18 mm, P < 0.001), lesion location (P < 0.001) and the presence of ulcerative findings (14/238 vs 18/61, P < 0.001). Multivariate analysis identified all five variables as independently related to required diazepam dosage. In terms of adverse reactions to diazepam administration, paradoxical excitement was significantly more frequent in the high-dose diazepam group (P < 0.001). CONCLUSION: Intermittent administration of diazepam enabled safe completion of gastric endoscopic submucosal dissection except in patients who were alcohol abusers or obese, or who showed complicated lesions. PMID:22442745

  6. Neoplasias oculares em cães e gatos : estudo retrospetivo 2001-2012

    OpenAIRE

    Silva, Beatriz Rosa Fernandes Duarte da

    2013-01-01

    Dissertação de Mestrado Integrado em Medicina Veterinária Apresenta-se um estudo sobre os casos de neoplasias oculares, em cães e gatos, analisados pelo Laboratório de Anatomia Patológica da Faculdade de Medicina Veterinária da Universidade Técnica de Lisboa (FMV-UTL), entre 2001 e 2012. Este estudo pretende contribuir para o conhecimento da prevalência das neoplasias oculares em cães e gatos na região de Lisboa, auxiliando no diagnóstico e na terapêutica de futuros casos de neoplasias ...

  7. Management of Nodular Neoplasia in Barrett's Esophagus: Endoscopic Mucosal Resection and Endoscopic Submucosal Dissection.

    Science.gov (United States)

    Belghazi, Kamar; Bergman, Jacques J G H M; Pouw, Roos E

    2017-07-01

    Endoscopic resection has proven highly effective and safe in the removal of focal early neoplastic lesions in Barrett's esophagus and is considered the cornerstone of endoscopic treatment. Several techniques are available for endoscopic resection in Barrett's esophagus. The most widely used technique for piecemeal resection of early Barrett's neoplasia is the ligate-and-cut technique. Newer techniques such as endoscopic submucosal dissection may also play a role in the treatment of neoplastic Barrett's esophagus. Treatment of early Barrett's neoplasia should be centralized and limited to expert centers with a high-volume load and sufficient expertise in the detection and treatment of esophageal neoplasia. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Biomarker expression in cervical intraepithelial neoplasia: potential progression predictive factors for low-grade lesions

    OpenAIRE

    Ozaki, Satoru; Zen, Yoh; Inoue, Masaki

    2011-01-01

    The aim of this study was to reveal whether 3 biomarkers (p16INK4a, ProEx C, and human papilloma virus DNA) are useful in the diagnosis of cervical intraepithelial neoplasia and whether they could predict disease progression of cervical intraepithelial neoplasia-1. We analyzed 252 cervical specimens: nondysplastic mucosa (n = 9), cervical intraepithelial neoplasia (n = 229), and squamous cell carcinoma (n = 14). Immunostaining for p16INK4a and ProEx C, and the hybridcapture II assay for human...

  9. Long-term adherence to follow-up after treatment of cervical intraepithelial neoplasia

    DEFF Research Database (Denmark)

    Barken, Sidsel S; Lynge, Elsebeth; Andersen, Erik S.

    2013-01-01

    OBJECTIVE: To measure adherence to annual follow-up among women treated for cervical intraepithelial neoplasia. DESIGN: Prospective, population-based, register study. SETTING: Denmark, 1996-2007. POPULATION: All women treated for cervical intraepithelial neoplasia with conization. METHODS: Treated...... was poor in Denmark. Our findings suggest that because of this poor adherence, recommendations for long-term annual follow-up after treatment of cervical intraepithelial neoplasia may not be highly effective. Shorter follow-up schedules using highly sensitive tests appear attractive....

  10. Prevalence of neoplasia diagnosed in dogs at the veterinary hospital at eduardo mondlane university, mozambique

    OpenAIRE

    Santos, I. F C [UNESP; Cardoso, J. M M; Oliveira, K. C.; Laisse, C. J M; Bessa, S. A T

    2013-01-01

    Realizou-se um estudo retrospectivo em 210 cães acometidos por neoplasias, atendidos no Hospital Veterinário (HV) da Universidade Eduardo Mondlane, Moçambique, no período de janeiro de 2004 a janeiro de 2009. Foram utilizados dados das fichas clínico-cirúrgicas, referentes às amostras de neoplasias removidas cirurgicamente, achados de exames necroscópicos e citológicos, os quais, posteriormente, foram enviados para o diagnóstico histopatológico. As neoplasias foram correlacionadas com o sexo,...

  11. Putting the brakes on mammary tumorigenesis: loss of STAT1 predisposes to intraepithelial neoplasias.

    Science.gov (United States)

    Schneckenleithner, Christine; Bago-Horvath, Zsuzsanna; Dolznig, Helmut; Neugebauer, Nina; Kollmann, Karoline; Kolbe, Thomas; Decker, Thomas; Kerjaschki, Dontscho; Wagner, Kay-Uwe; Müller, Mathias; Stoiber, Dagmar; Sexl, Veronika

    2011-12-01

    Multiparous Stat1-/- mice spontaneously develop mammary tumors with increased incidence: at an average age of 12 months, 55% of the animals suffer from mammary cancer, although the histopathology is heterogeneous. We consistently observed mosaic expression or down-regulation of STAT1 protein in wild-type mammary cancer evolving in the control group. Transplantation experiments show that tumorigenesis in Stat1-/- mice is partially influenced by impaired CTL mediated tumor surveillance. Additionally, STAT1 exerts an intrinsic tumor suppressing role by controlling and blocking proliferation of the mammary epithelium. Loss of STAT1 in epithelial cells enhances cell growth in both transformed and primary cells. The increased proliferative capacity leads to the loss of structured acini formation in 3D-cultures. Analogous effects were observed when Irf1-/- epithelial cells were used. Accordingly, the rate of mammary intraepithelial neoplasias (MINs) is increased in Stat1-/- animals: MINs represent the first step towards mammary tumors. The experiments characterize STAT1/IRF1 as a key growth inhibitory and tumor suppressive signaling pathway that prevents mammary cancer formation by maintaining growth control. Furthermore, they define the loss of STAT1 as a predisposing event via enhanced MIN formation.

  12. Ocular surface squamous neoplasia in HIV-infected patients: current perspectives

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    Rathi SG

    2018-03-01

    high recurrence rates and early presentation to an ophthalmologist for of any symptoms in the unaffected eye. Effective evidence-based interventions are needed to allow early diagnosis and treatment, as well as prevention of the disease. Keywords: eye, conjunctiva, OSSN, ocular surface squamous neoplasia, HIV, human immunodeficiency virus

  13. Clinical Perspective of Oxidative Stress in Sporadic ALS

    Science.gov (United States)

    D’Amico, Emanuele; Factor-Litvak, Pam; Santella, Regina M.; Mitsumoto, Hiroshi

    2013-01-01

    Sporadic amyotrophic lateral sclerosis (sALS) is one of the most devastating neurological diseases; most patients die within 3 to 4 years after symptom onset. Oxidative stress is a disturbance in the pro-oxidative/anti-oxidative balance favoring the pro-oxidative state. Autopsy and laboratory studies in ALS indicate that oxidative stress plays a major role in motor neuron degeneration and astrocyte dysfunction. Oxidative stress biomarkers in cerebrospinal fluid, plasma, and urine, are elevated, suggesting that abnormal oxidative stress is generated outside of the central nervous system. Our review indicates that agricultural chemicals, heavy metals, military service, professional sports, excessive physical exertion, chronic head trauma, and certain foods might be modestly associated with ALS risk, with a stronger association between risk and smoking. At the cellular level, these factors are all involved in generating oxidative stress. Experimental studies indicate that a combination of insults that induce modest oxidative stress can exert additive deleterious effects on motor neurons, suggesting multiple exposures in real-world environments are important. As the disease progresses, nutritional deficiency, cachexia, psychological stress, and impending respiratory failure may further increase oxidative stress. Moreover, accumulating evidence suggests that ALS is possibly a systemic disease. Laboratory, pathologic, and epidemiologic evidence clearly support the hypothesis that oxidative stress is central in the pathogenic process, particularly in genetically susceptive individuals. If we are to improve ALS treatment, well-designed biochemical and genetic epidemiological studies, combined with a multidisciplinary research approach, are needed and will provide knowledge crucial to our understanding of ALS etiology, pathophysiology, and prognosis. PMID:23797033

  14. MTHFR polymorphisms as prognostic factors in sporadic colorectal cancer.

    Science.gov (United States)

    Osian, Gelu; Procopciuc, Lucia; Vlad, Liviu

    2007-09-01

    Theoretically, individuals having at least one mutant allele present a modified activity of the MTHFR enzyme and low methylation, DNA synthesis-repair respectively, which could imply a higher risk of colorectal cancer. The purpose of this study was to investigate the relations of these mutations with the clinico-pathological aspects of colorectal cancer. The study included 69 patients with sporadic colorectal cancer. The relative risk in homozygous patients with a normal allele and for mutations C667T and A1298C, in heterozygous patients with one normal and one mutant allele, and for homozygous patients for the mutant allele was calculated. C667T and A1298C mutations represent a risk factor for colorectal cancer with an OR (odds ratio) = 2.13 (CI (0.51-8.91)) and 3 (CI(0.3-29.58), respectively, in homozygous patients. These mutations are associated with a more frequent location of lesions at the colon level, OR=2.3 and 2.15 respectively. The incidence of the A1298C mutation was more frequent in stage N0 than N+ (p<0.05), pT2 vs. pT3 (p<0.05), as well as in Dukes stages B and D vs. A or C (p<0.05). The results obtained support the hypothesis of an increased colorectal cancer prevalence in patients with one of the MTHFR gene mutations. These patients develop colon cancer more frequently, they present lymph node invasion more rarely, and develop more often distant metastases.

  15. Upregulated Genes In Sporadic, Idiopathic Pulmonary Arterial Hypertension

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    Yacoub Magdi H

    2006-01-01

    Full Text Available Abstract Background To elucidate further the pathogenesis of sporadic, idiopathic pulmonary arterial hypertension (IPAH and identify potential therapeutic avenues, differential gene expression in IPAH was examined by suppression subtractive hybridisation (SSH. Methods Peripheral lung samples were obtained immediately after removal from patients undergoing lung transplant for IPAH without familial disease, and control tissues consisted of similarly sampled pieces of donor lungs not utilised during transplantation. Pools of lung mRNA from IPAH cases containing plexiform lesions and normal donor lungs were used to generate the tester and driver cDNA libraries, respectively. A subtracted IPAH cDNA library was made by SSH. Clones isolated from this subtracted library were examined for up regulated expression in IPAH using dot blot arrays of positive colony PCR products using both pooled cDNA libraries as probes. Clones verified as being upregulated were sequenced. For two genes the increase in expression was verified by northern blotting and data analysed using Student's unpaired two-tailed t-test. Results We present preliminary findings concerning candidate genes upregulated in IPAH. Twenty-seven upregulated genes were identified out of 192 clones examined. Upregulation in individual cases of IPAH was shown by northern blot for tissue inhibitor of metalloproteinase-3 and decorin (P Conclusion Four of the up regulated genes, magic roundabout, hevin, thrombomodulin and sucrose non-fermenting protein-related kinase-1 are expressed specifically by endothelial cells and one, muscleblind-1, by muscle cells, suggesting that they may be associated with plexiform lesions and hypertrophic arterial wall remodelling, respectively.

  16. Chlamydia pecorum: fetal and placental lesions in sporadic caprine abortion.

    Science.gov (United States)

    Giannitti, Federico; Anderson, Mark; Miller, Myrna; Rowe, Joan; Sverlow, Karen; Vasquez, Marce; Cantón, Germán

    2016-03-01

    Chlamydial abortion in small ruminants is usually associated with Chlamydia abortus infection. Although Chlamydia pecorum has been detected in aborted ruminants and epidemiological data suggests that C. pecorum is abortigenic in these species, published descriptions of lesions in fetuses are lacking. This work describes fetoplacental lesions in a caprine abortion with C. pecorum infection, and further supports the abortigenic role of C. pecorum in ruminants. A 16-month-old Boer goat aborted twin fetuses at ~130 days of gestation. Both fetuses (A and B) and the placenta of fetus A were submitted for postmortem examination and diagnostic workup. At autopsy, the fetuses had moderate anasarca, intermuscular edema in the hindquarters (A), and brachygnathia and palatoschisis (B). In the placenta, the cotyledons were covered by yellow fibrinosuppurative exudate that extended into the adjacent intercotyledonary areas. Histologically, there was severe suppurative and necrotizing placentitis with vasculitis (arteriolitis) and thrombosis, multifocal lymphohistiocytic and neutrophilic hepatitis (A), and fibrinosuppurative enteritis in both fetuses. Chlamydia antigen was detected in the placenta by the direct fluorescent antibody test and in fetal intestines by immunohistochemistry. Nested polymerase chain reaction of DNA extracted from formalin-fixed, paraffin-embedded sections of placenta and intestine amplified 400 bp of the Chlamydia 16S rRNA gene that was sequenced and found to be 99% identical to C. pecorum by BLAST analysis. Other known abortigenic infectious agents were ruled out by specific testing. It is concluded that C. pecorum infection is associated with fetoplacental lesions and sporadic abortion in goats. © 2015 The Author(s).

  17. Genotype and phenotype analysis of patients with sporadic periodic paralysis.

    Science.gov (United States)

    Sung, Chih-Chien; Cheng, Chih-Jen; Lo, Yi-Fen; Lin, Mei-Shan; Yang, Sung-Sen; Hsu, Yu-Chuan; Lin, Shih-Hua

    2012-04-01

    Sporadic periodic paralysis (SPP), the second leading cause of hypokalemic periodic paralysis (HPP) in Asia, has a presentation similar to that of familial periodic paralysis (FPP) and is caused by gene mutations in the calcium (Ca(2+)) (CACNA1S) and sodium (Na(+)) (SCN4A) channels of skeletal muscle. The authors determined whether SPP shares similar genotype and phenotype with FPP. Sixty SPP patients who did not have a family history of paralysis, abnormal thyroid function tests and other identifiable causes of HPP, and 8 FPP patients were enrolled. Genomic DNA was isolated from blood leukocytes of all SPP and FPP patients. Genetic analysis of whole S4 segment in CACNA1S and SCN4A was performed. Phenotypic analysis included clinical presentations, laboratory data and precipitating events. All FPP patients had mutations in either CACNA1S or SCN4A, but only 4 SPP patients had de novo mutations in CACNA1S (R1239H) and SCN4A (R669×2, R1135H). SPP patients with de novo mutations manifested a phenotype indistinguishable from that of FPP patients except a later age of onset. SPP patients without mutations also had a later age of onset, significantly fewer attacks of paralysis than FPP patients, and unidentifiable precipitating factors. A minority of SPP patients had de novo CACNA1S or SCN4A mutations and may have a variant of FPP. The majority of SPP patients, those without mutations in CACNA1S and SCN4A, represent a unique subgroup of HPP patients, and this form of SPP usually manifests at a later age, is associated with fewer attacks and lacks apparent triggering factors.

  18. Identification of epigenetically altered genes in sporadic amyotrophic lateral sclerosis.

    Directory of Open Access Journals (Sweden)

    Claudia Figueroa-Romero

    Full Text Available Amyotrophic lateral sclerosis (ALS is a terminal disease involving the progressive degeneration of motor neurons within the motor cortex, brainstem and spinal cord. Most cases are sporadic (sALS with unknown causes suggesting that the etiology of sALS may not be limited to the genotype of patients, but may be influenced by exposure to environmental factors. Alterations in epigenetic modifications are likely to play a role in disease onset and progression in ALS, as aberrant epigenetic patterns may be acquired throughout life. The aim of this study was to identify epigenetic marks associated with sALS. We hypothesize that epigenetic modifications may alter the expression of pathogenesis-related genes leading to the onset and progression of sALS. Using ELISA assays, we observed alterations in global methylation (5 mC and hydroxymethylation (5 HmC in postmortem sALS spinal cord but not in whole blood. Loci-specific differentially methylated and expressed genes in sALS spinal cord were identified by genome-wide 5mC and expression profiling using high-throughput microarrays. Concordant direction, hyper- or hypo-5mC with parallel changes in gene expression (under- or over-expression, was observed in 112 genes highly associated with biological functions related to immune and inflammation response. Furthermore, literature-based analysis identified potential associations among the epigenes. Integration of methylomics and transcriptomics data successfully revealed methylation changes in sALS spinal cord. This study represents an initial identification of epigenetic regulatory mechanisms in sALS which may improve our understanding of sALS pathogenesis for the identification of biomarkers and new therapeutic targets.

  19. Geographical and seasonal correlation of multiple sclerosis to sporadic schizophrenia

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    Fritzsche Markus

    2002-12-01

    Full Text Available Abstract Background Clusters by season and locality reveal a striking epidemiological overlap between sporadic schizophrenia and multiple sclerosis (MS. As the birth excesses of those individuals who later in life develop schizophrenia mirror the seasonal distribution of Ixodid ticks, a meta analysis has been performed between all neuropsychiatric birth excesses including MS and the epidemiology of spirochaetal infectious diseases. Results The prevalence of MS and schizophrenic birth excesses entirely spares the tropical belt where human treponematoses are endemic, whereas in more temperate climates infection rates of Borrelia garinii in ticks collected from seabirds match the global geographic distribution of MS. If the seasonal fluctuations of Lyme borreliosis in Europe are taken into account, the birth excesses of MS and those of schizophrenia are nine months apart, reflecting the activity of Ixodes ricinus at the time of embryonic implantation and birth. In America, this nine months' shift between MS and schizophrenic births is also reflected by the periodicity of Borrelia burgdorferi transmitting Ixodes pacificus ticks along the West Coast and the periodicity of Ixodes scapularis along the East Coast. With respect to Ixodid tick activity, amongst the neuropsychiatric birth excesses only amyotrophic lateral sclerosis (ALS shows a similar seasonal trend. Conclusion It cannot be excluded at present that maternal infection by Borrelia burgdorferi poses a risk to the unborn. The seasonal and geographical overlap between schizophrenia, MS and neuroborreliosis rather emphasises a causal relation that derives from exposure to a flagellar virulence factor at conception and delivery. It is hoped that the pathogenic correlation of spirochaetal virulence to temperature and heat shock proteins (HSP might encourage a new direction of research in molecular epidemiology.

  20. Visual art therapy in sporadic Creutzfeldt-Jakob disease: a case study.

    Science.gov (United States)

    Shrestha, Rajeet; Trauger-Querry, Barbara; Loughrin, Athena; Appleby, Brian S

    2016-01-01

    This paper describes the diagnostic and treatment utility of visual art therapy in a case of sporadic Creutzfeldt-Jakob disease. Visual art therapy was compared longitudinally with clinical and neuroimaging data over five-month period in an autopsy-confirmed case of sporadic Creutzfeldt-Jakob disease of MM2-cortical subtype. Art therapy sessions and content were useful in ascertaining neuropsychiatric symptoms during the course of her illness. Art therapy offered a unique emotional and cognitive outlet as illness progressed. Patients and families affected by sporadic Creutzfeldt-Jakob disease may benefit from art therapy despite the rapidly progressive nature of the illness. Art therapy can also be useful for assessment of patients with sporadic Creutzfeldt-Jakob disease by healthcare professionals.

  1. Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

    DEFF Research Database (Denmark)

    Ferrari, Raffaele; Wang, Yunpeng; Vandrovcova, Jana

    2017-01-01

    BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap betwee...

  2. The Relationship Between Distal and Proximal Colonic Neoplasia : A Meta-Analysis

    NARCIS (Netherlands)

    Dodou, D.; De Winter, J.C.F.

    2011-01-01

    To investigate the association between proximal colonic neoplasia and distal lesions as a function of the lesion type. The extent to which health, demographic, and study characteristics moderate this association was also examined.

  3. Endoscopic TriModal imaging and biomarkers for neoplasia conjoined: a feasibility study in Barrett's esophagus

    NARCIS (Netherlands)

    Boerwinkel, D. F.; Di Pietro, M.; Liu, X.; Shariff, M. K.; Lao-Sirieix, P.; Walker, C. E.; Visser, M.; O' Donovan, M.; Kaye, P.; Bergman, J. J. G. H. M.; Fitzgerald, R. C.

    2014-01-01

    In Barrett's esophagus (BE), the normal squamous lining of the esophagus is replaced by specialized columnar epithelium. Endoscopic surveillance with autofluorescence imaging (AFI) and molecular biomarkers have been studied separately to detect early neoplasia (EN) in BE. The combination of

  4. Phosphodiesterases in non-neoplastic appearing colonic mucosa from patients with colorectal neoplasia

    DEFF Research Database (Denmark)

    Mahmood, Badar; Damm, Morten Matthiesen Bach; Jensen, Thorbjørn Søren Rønn

    2016-01-01

    BACKGROUND: Intracellular signaling through cyclic nucleotides, both cyclic AMP and cyclic GMP, is altered in colorectal cancer. Accordingly, it is hypothesized that an underlying mechanism for colorectal neoplasia involves altered function of phosphodiesterases (PDEs), which affects cyclic...... functionally by measurements of transepithelial ion transport and their expression and localization by employing real-time qPCR and immunohistochemistry. RESULTS: In functional studies PDE subtype-4 displayed lower activity in colorectal neoplasia patients (p = 0.006). Furthermore, real-time qPCR analysis...... showed overexpression of subtype PDE4B (p = 0.002) and subtype PDE5A (p = 0.02) in colorectal neoplasia patients. Finally, immunohistochemistry for 7 PDE isozymes demonstrated the presence of all 7 isozymes, albeit with weak reactions, and with no differences in localization between colorectal neoplasia...

  5. Pathogenesis of germ cell neoplasia in testicular dysgenesis and disorders of sex development

    DEFF Research Database (Denmark)

    Jørgensen, Anne; Lindhardt Johansen, Marie; Juul, Anders

    2015-01-01

    reproductive problems within the testicular dysgenesis syndrome (TDS), with large overlap between the syndromes. These disorders carry an increased but variable risk of germ cell neoplasia. In this review, we discuss the pathogenesis of germ cell neoplasia associated with gonadal dysgenesis, especially...... in individuals with 46,XY DSD. We summarise knowledge concerning development and sex differentiation of human gonads, with focus on sex-dimorphic steps of germ cell maturation, including meiosis. We also briefly outline the histopathology of germ cell neoplasia in situ (GCNIS) and gonadoblastoma (GDB), which...... are essentially the same precursor lesion but with different morphological structure dependent upon the masculinisation of the somatic niche. To assess the risk of germ cell neoplasia in different types of DSD, we have performed a PubMed search and provide here a synthesis of the evidence from studies published...

  6. Quantitative attenuation analysis for identification of early Barrett's neoplasia in volumetric laser endomicroscopy

    NARCIS (Netherlands)

    Swager, Anne-Fre; Faber, Dirk J.; de Bruin, Daniel M.; Weusten, Bas L.; Meijer, Sybren L.; Bergman, Jacques J.; Curvers, Wouter L.; van Leeuwen, Ton G.

    2017-01-01

    Early neoplasia in Barrett's esophagus (BE) is difficult to detect. Volumetric laser endomicroscopy (VLE) incorporates optical coherence tomography, providing a circumferential scan of the esophageal wall layers. The attenuation coefficient (mu(VLE)) quantifies decay of detected backscattered light

  7. Differences in human papillomavirus type distribution in high-grade cervical intraepithelial neoplasia and invasive cervical cancer in Europe

    DEFF Research Database (Denmark)

    Tjalma, Wiebren A; Fiander, Alison; Reich, Olaf

    2013-01-01

    Knowledge of differences in human papillomavirus (HPV)-type prevalence between high-grade cervical intraepithelial neoplasia (HG-CIN) and invasive cervical cancer (ICC) is crucial for understanding the natural history of HPV-infected cervical lesions and the potential impact of HPV vaccination...... on cervical cancer prevention. More than 6,000 women diagnosed with HG-CIN or ICC from 17 European countries were enrolled in two parallel cross-sectional studies (108288/108290). Centralised histopathology review and standardised HPV-DNA typing were applied to formalin-fixed paraffin-embedded cervical...... specimens dated 2001-2008. The pooled prevalence of individual HPV types was estimated using meta-analytic methods. A total of 3,103 women were diagnosed with HG-CIN and a total of 3,162 with ICC (median ages: 34 and 49 years, respectively), of which 98.5 and 91.8% were HPV-positive, respectively. The most...

  8. Multiple endocrine neoplasia type 2A in a black South African family

    African Journals Online (AJOL)

    1. $obol H. Narod SA, Nakamura Y. et al. Screening for multiple endocrine neoplasia type 2a with DNA-polymorphism analysis. N Engl J Med 1989: 321: 996-1001. 2. Mulligan LM, Eng C. He-aly CS, e-r al. Germ-line mutations of the RET proto- oncogene in multiple endocrine neoplasia type 2A Nature 1993; 363: 458-460_.

  9. Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.

    Science.gov (United States)

    Larizza, Daniela; Albanesi, Michela; De Silvestri, Annalisa; Accordino, Giulia; Brazzelli, Valeria; Maffè, Gabriella Carnevale; Calcaterra, Valeria

    2016-05-01

    Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  10. 5-Fluorouracil for the treatment of intraepithelial neoplasia and squamous cell carcinoma of the conjunctiva, and cornea

    Directory of Open Access Journals (Sweden)

    Abdulmoghni Al-Barrag

    2010-07-01

    Full Text Available Abdulmoghni Al-Barrag1, Mutahar Al-Shaer1, Nabil Al-Matary2, Mohammed Al-Hamdani21Ophthalmic Department, Faculty of Medicine and Health Sciences, Sana’a University, Sana’a, Republic of Yemen; 2Ophthalmic Department, Military Hospital, Sana’a, Republic of YemenObjective: To evaluate the efficacy and risks of complications of pulse dosing of topical 5-fluorouracil (5-FU in the treatment of corneal intraepithelial neoplasia (CIN, and conjunctival squamous cell carcinoma (SCC. Design: Prospective, noncomparative case series. Participants: Fifteen patients with histological evidence CIN or SCC of the conjunctiva and cornea were identified by tumor biopsy. Methods: All patients clinically evident of CIN, or SCC were evaluated, with maximum 30 months of follow-up were treated with pulsed dosing of 1% 5-FU. Treatment cycles were defined as four times per day for 4 days using the medication followed by 30 days without medication. The number of initial treatment was six cycles. Results: The mean age of the 15 patients was 50.8 years (range 25–78 years. Excision biopsy proved seven cases as CIN, and eight cases as locally invasive SCC. All patients remained disease free with a mean follow-up of 14.53 months (range 6-30 months. Additional chemotherapy was given after the initial treatment cycles, only for one case. 5-FU caused mild temporary local irritation, but no long-term intraocular or extra ocular complications. Conclusions: Adjuvant 1% topical 5-FU appears to be effective in the prevention of recurrence of conjunctival or corneal CIN and SCC after excision biopsy. Our results indicate that at least six cycles of topical 1% 5-FU is required to prevent local recurrence in the long term. It is well-tolerated and an effective method of treatment. No complications that would preclude use of our dose regimen were noted.Keywords: chemotherapy, fluorouracil, neoplasia, treatment cycles

  11. Serum uric acid and lipid profiles in sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Chen, Shuai; He, Shuang; Shang, Jun-Kui; Ma, Ming-Ming; Xu, Chang-Shui; Shi, Xiao-Hong; Zhang, Jie-Wen

    2016-02-01

    Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease affecting the central nervous system. Brain lipid homeostasis and oxidative stress seem to play an important role in the disease pathogenesis. But little was known whether serum lipids and uric acid (a natural antioxidant) levels changed in patients with prion disease. Here we retrospectively reviewed and compared the serum lipids and uric acid levels of 19 probable sporadic CJD patients and 26 healthy control subjects. We found that the serum uric acid levels in sporadic CJD patients were significantly lower than that in controls (P=0.01). Serum triglycerides, cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and apolipoprotein A1 (ApoA1) were similar in sporadic CJD patients and controls. However, LDL/HDL ratio was lower in sporadic CJD patients (P=0.003). The low serum uric acid and LDL/HDL ratio levels in sporadic CJD indicate that dysfunction in the lipid homeostasis and oxidative stress is associated with sporadic prion disease. Copyright © 2015 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  12. The Prion Protein Preference of Sporadic Creutzfeldt-Jakob Disease Subtypes*

    Science.gov (United States)

    Klemm, Helen M. J.; Welton, Jeremy M.; Masters, Colin L.; Klug, Genevieve M.; Boyd, Alison; Hill, Andrew F.; Collins, Steven J.; Lawson, Victoria A.

    2012-01-01

    Sporadic Creutzfeldt-Jakob disease (CJD) is the most prevalent manifestation of the transmissible spongiform encephalopathies or prion diseases affecting humans. The disease encompasses a spectrum of clinical phenotypes that have been correlated with molecular subtypes that are characterized by the molecular mass of the protease-resistant fragment of the disease-related conformation of the prion protein and a polymorphism at codon 129 of the gene encoding the prion protein. A cell-free assay of prion protein misfolding was used to investigate the ability of these sporadic CJD molecular subtypes to propagate using brain-derived sources of the cellular prion protein (PrPC). This study confirmed the presence of three distinct sporadic CJD molecular subtypes with PrPC substrate requirements that reflected their codon 129 associations in vivo. However, the ability of a sporadic CJD molecular subtype to use a specific PrPC substrate was not determined solely by codon 129 as the efficiency of prion propagation was also influenced by the composition of the brain tissue from which the PrPC substrate was sourced, thus indicating that nuances in PrPC or additional factors may determine sporadic CJD subtype. The results of this study will aid in the design of diagnostic assays that can detect prion disease across the diversity of sporadic CJD subtypes. PMID:22930754

  13. Sporadic-E and spread-F in high latitude region

    International Nuclear Information System (INIS)

    Tao, Kazuhiko

    1974-01-01

    The heretofore made morphological studies of sporadic-E and spread-F as the typical irregularities of electron density are reviewed. These phenomena have close correlation with other geophysical phenomena which occur in the atmosphere of superhigh altitude in high latitude region. Many of these phenomena occur from same causes. Although the quantitative data are insufficient, the sporadic-E and spread-F in high latitude region are supposed to be caused by the precipitating charged particles falling from magnetosphere. A system, which can observe such phenomena simultaneously using the measuring instruments carried by satellites in the atmosphere of high altitude over high latitude region, is desirable to solve such problems. In detail, the morphological study on sporadic-E obtained from the observation of vertically projected ionosphere and the morphological study on sporadic-E from the observation of forward scattering and slanting entrance are reviewed. The correlation of the occurrence frequency of sporadic-E with solar activity, geomagnetic activity and other phenomena was studied. The morphological study on spread-F occurrence is reviewed. The observation of the spread-F in high latitude region by the application of top side sounding is reviewed. The correlation of the sporadic-E and spread-F in high latitude region with other geophysical phenomena is discussed. Finally, the discrete phenomenon and the diffuse phenomenon are discussed too. (Iwakiri, K.)

  14. Diagnosing Sporadic Creutzfeldt-Jakob Disease in a Patient with a Suspected Status Epilepticus in the Intensive Care Unit

    Directory of Open Access Journals (Sweden)

    Harm J. van der Horn

    2013-01-01

    Full Text Available Objective. Several tests are available in the diagnostics of sporadic Creutzfeldt-Jakob disease (sCJD; however, none of these is conclusive. We review the values of these tests, from an intensive care unit (ICU perspective. Methods. Case report and review of the literature. Results. A 53-year-old woman initially presenting with psychiatric symptoms developed myoclonus and was admitted 1 month later to the ICU with a suspected nonconvulsive status epilepticus and respiratory insufficiency, probably due to extensive antiepileptic drug therapy. Typical MRI and EEG findings and a positive 14-3-3 protein led to the diagnosis of sCJD. All treatments were terminated, and autopsy confirmed sCJD. Conclusions. Clinical signs combined with MRI, EEG, and 14-3-3 and/or tau protein determination might be sufficient to diagnose or exclude sCJD and may therefore prevent the application of unnecessary diagnostic tests.

  15. Sarcopenia is associated with an increased risk of advanced colorectal neoplasia.

    Science.gov (United States)

    Park, Youn Su; Kim, Ji Won; Kim, Byeong Gwan; Lee, Kook Lae; Lee, Jae Kyung; Kim, Joo Sung; Koh, Seong-Joon

    2017-04-01

    Although sarcopenia is associated with an increased risk for mortality after the curative resection of colorectal cancer, its influence on the development of advanced colonic neoplasia remains unclear. This study included 1270 subjects aged 40 years or older evaluated with first-time screening colonoscopy at Seoul National University Boramae Health Care Center from January 2010 to February 2015. Skeletal muscle mass was measured with a body composition analyzer (direct segmental multifrequency bioelectrical impedance analysis method). Multiple logistic regression analysis was performed to determine whether sarcopenia is associated with advanced colorectal neoplasia. Of 1270 subjects, 139 (10.9%) were categorized into the sarcopenia group and 1131 (89.1%) into the non-sarcopenia group. In the non-sarcopenia group, 55 subjects (4.9%) had advanced colorectal neoplasia. However, in the sarcopenia group, 19 subjects (13.7%) had advanced colorectal neoplasia, including 1 subject with invasive colorectal cancer (0.7%). In addition, subjects with sarcopenia had a higher prevalence of advanced adenoma (P sarcopenia. According to the multiple logistic regression analysis adjusted for variable confounders, age (odds ratio 1.062, 95% confidence interval 1.032-1.093; P sarcopenia (odds ratio 2.347, 95% confidence interval 1.311-4.202; P = 0.004) were associated with an advanced colorectal neoplasia. Sarcopenia is associated with an increased risk of advanced colorectal neoplasia.

  16. Histologic differentiation and mucin phenotype in white opaque substance-positive gastric neoplasias.

    Science.gov (United States)

    Ueo, Tetsuya; Yonemasu, Hirotoshi; Yao, Kenshi; Ishida, Tetsuya; Togo, Kazumi; Yanai, Yuka; Fukuda, Masahide; Motomura, Mitsuteru; Narita, Ryoich; Murakami, Kazunari

    2015-12-01

    The authors previously reported that the white opaque substance (WOS) in gastric epithelial neoplasia was caused by accumulation of lipid droplets by immunohistochemical and immunoelectron microscopic studies of adipophilin, which was recently identified and validated as a marker of lipid droplets. The aim of the current study was to investigate the characteristics of the histologic differentiation and mucin phenotype in WOS-positive gastric epithelial neoplasias. A total of 130 gastric epithelial neoplasias (45 adenomas and 85 early adenocarcinomas) from 120 patients were retrospectively evaluated. The presence or absence of WOS was evaluated by M-NBI. Lipids were examined by immunohistochemical staining for adipophilin. Tissue phenotypes were immunohistochemically classified as intestinal (I), gastrointestinal (GI), and gastric (G) using antibodies against CD10, MUC2, MUC5AC and MUC6. The histologic differentiation and mucin phenotype of WOS-positive neoplasias were characterized and examined according to adipophilin expression. The presence of WOS by M-NBI was correlated with histologic differences between adenoma or differentiated type adenocarcinoma and mixed type or undifferentiated type adenocarcinoma (P = 0.0153). Adipophilin was only expressed in primary adenoma and well to moderately differentiated adenocarcinoma components but not in undifferentiated components. WOS and adipophilin expression were only observed in neoplasias with I or GI phenotypes, but not in those with the G phenotype (P neoplasias might indicate differentiation into a mature histological subtype with GI or I mucin phenotype.

  17. MicroRNA alterations of pancreatic intraepithelial neoplasias.

    Science.gov (United States)

    Yu, Jun; Li, Ang; Hong, Seung-Mo; Hruban, Ralph H; Goggins, Michael

    2012-02-15

    MicroRNA (miRNA) alterations are likely to contribute to the development of pancreatic cancer and may serve as markers for the early detection of pancreatic neoplasia. To identify the miRNA alterations that arise during the development of pancreatic cancer, we determined the levels of 735 miRNAs in 34 pancreatic intraepithelial neoplasias (PanIN) and 15 normal pancreatic duct samples isolated by laser capture microdissection using TaqMan miRNA microarrays. Differential expression of selected miRNAs was confirmed by FISH analysis and by quantitative real-time reverse transcription PCR (qRT-PCR) analysis of selected candidate miRNAs in an independent set of PanIN and normal duct samples. We identified 107 aberrantly expressed miRNAs in different PanIN grades compared with normal pancreatic duct samples and 35 aberrantly expressed miRNAs in PanIN-3 lesions compared with normal pancreatic duct samples. These differentially expressed miRNAs included those that have been previously identified as differentially expressed in pancreatic ductal adenocarcinomas (PDAC; including miR-21, miR-200a/b/c, miR-216a/b, miR-217, miR-146a, miR-155, miR-182, miR-196b, miR-203, miR-222, miR-338-3p, miR-486-3p, etc.) as well as miRNAs not previously described as differentially expressed in these lesions (miR-125b, miR-296-5p, miR-183*, miR-603, miR-625/*, miR-708, etc.). miR-196b was the most selectively differentially expressed miRNA in PanIN-3 lesions. Many miRNAs undergo aberrant expression in PanIN lesions and are likely to be important in the development of PDAC. The miRNAs, such as miR-196b, whose expression is limited to PanIN-3 lesions or pancreatic cancers could be useful as diagnostic markers. ©2011 AACR.

  18. Loop electrosurgical excision procedure in vulvar intraepithelial neoplasia treatment.

    Science.gov (United States)

    Vlastos, Anne-Thérèse; Levy, Larry B; Malpica, Anais; Follen, Michele

    2002-10-01

    OBJECTIVE.: Our objective was to compare by response rate the therapeutic options of loop electrosurgical excision procedure (LEEP), laser therapy, and wide local excision in managing high-grade vulvar intraepithelial neoplasia in a pilot study for a randomized clinical trial. MATERIALS AND METHODS.: Between 1995 and 1999, 109 patients presenting with vulvar lesions were registered at a comprehensive cancer center and 2 associated colposcopy clinics. From these 109, we identified 74 patients with lesions histologically proven to be vulvar intraepithelial neoplasia who underwent treatment with CO2 laser, wide local excision, or LEEP. Clinical and pathological features were reviewed retrospectively. Wilcoxon rank sum test and life table analyses were used to compare groups. Response rates for this retrospective study will be used to calculate the sample size for a prospective clinical trial. RESULTS.: Our population was similar to others reported in the literature in age, range of diagnoses, and follow-up. Only 1 of 74 patients (1%) had invasive cancer. In a subset of 62 patients treated for the first time, LEEP and wide local excision were equal in their ability to achieve complete response. Laser ablation was the least successful of all methods (10/20 with laser, 3/20 with LEEP, and 2/22 with wide local excision experienced recurrences [p = .04]). No statistically significant differences among the 3 were noted in time to recurrence (p = .24). Age, age at first intercourse, and number of sexual partners were not correlated with recurrence and did not confound the results. Using a chi approximation, an alpha error of 0.05, and a power of 0.80, researchers should enroll 25 patients per arm if improvement over standard therapy is expected to be 40%, 45 if expected to be 30%, and 95 if expected to be 20%. CONCLUSIONS.: Because of differences in recurrence rate and length of hospital stay and indications of potential differences in cost found in this pilot, LEEP merits

  19. Sporadic colorectal cancer: Studying ways to an end

    Science.gov (United States)

    Fidalgo, Paulo; Filipe, Bruno; Albuquerque, Cristina; Fonseca, Ricardo; Chaves, Paula; Pereira, António D

    2015-01-01

    Introduction Although colorectal cancer (CRC) has often been regarded as a single entity, different pathways may lead to macroscopically similar cancers. These pathways may evolve into a patchy colonic field defect that we aimed to study in consecutive CRC patients. Methods In a single-center, observational, prospective study, consecutive CRC patients were included if surgery and a perioperative colonoscopy were planned. Personal and familial history data were collected. Tumors were studied for microsatellite instability (MSI) status, DNA repair protein expression (DRPE) and presence of BRAF and/or APC mutations. Macroscopically normal mucosa samples were tested for APC mutations. Presence and location of synchronous and metachronous adenomas and patient follow-up were analyzed. The association of two categorical variables was tested through the Fisher’s exact test (SPSS 19). Results Twenty-four patients (12 male, mean age 69 years) were studied. High-grade MSI (MSI-H) was found in eight tumors—these were significantly more common in the right colon (p = 0.047) and more likely to have an altered DRPE (p = 0.007). BRAF mutation was found in two of six tested MSI-H tumors. APC gene mutations were found in nine of 16 non-MSI-H tumors and absent in normal mucosa samples. There was a nonsignificant co-localization of CRC and synchronous adenomas and a significant co-localization (p = 0.05) of synchronous and metachronous adenomas. Discussion Sporadic CRCs evolve through distinct pathways, evidenced only by pathological and molecular analysis, but clinically relevant both for patients and their families. In non-MSI-H tumors, the expected APC gene mutations were not detected by the most commonly used techniques in a high number of cases. More studies are needed to fully characterize these tumors and to search for common early events in normal mucosa patches, which might explain the indirect evidence found here for a field defect in the colon. PMID:27087959

  20. Cervical Intraepithelial Neoplasia Is Associated With Genital Tract Mucosal Inflammation

    Science.gov (United States)

    Mhatre, Mohak; McAndrew, Thomas; Carpenter, Colleen; Burk, Robert D.; Einstein, Mark H.; Herold, Betsy C.

    2013-01-01

    Background Clinical studies demonstrate increased prevalence of human papillomavirus (HPV)-associated disease in HIV-infected individuals and an increased risk of HIV acquisition in HPV-infected individuals. The mechanisms underlying this synergy are not defined. We hypothesize that women with cervical intraepithelial neoplasia (CIN) will exhibit changes in soluble mucosal immunity that may promote HPV persistence and facilitate HIV infection. Methods The concentrations of immune mediators and endogenous anti-Escherichia coli activity in genital tract secretions collected by cervicovaginal lavage were compared in HIV-negative women with high-risk HPV-positive (HRHPV+) CIN-3 (n = 37), HRHPV+ CIN-1 (n = 12), or PAP-negative control subjects (n = 57). Results Compared with control subjects, women with CIN-3 or CIN-1 displayed significantly higher levels of proinflammatory cytokines including interleukin (IL)-1α, IL-1β, and IL-8 (P < 0.002) and significantly lower levels of anti-inflammatory mediators and antimicrobial peptides, including IL-1 receptor antagonist, secretory leukocyte protease inhibitor (P < 0.01), and human β defensins 2 and 3 (P < 0.02). There was no significant difference in endogenous anti-E. coli activity after controlling for age and sample storage time. Conclusion HRHPV+ CIN is characterized by changes in soluble mucosal immunity that could contribute to HPV persistence. The observed mucosal inflammation suggests a mechanism that may also contribute to the epidemiologic link between persistent HPV and HIV. PMID:22801340

  1. Alopecia universalis in a dog with testicular neoplasia.

    Science.gov (United States)

    Outerbridge, Catherine A; White, Stephen D; Affolter, Verena K

    2016-12-01

    To describe a case of testicular neoplasia and alopecia universalis in a dog, and successful treatment of the latter with ciclosporin. Twelve-year-old intact male wirehaired fox terrier. Castration, skin biopsy for histopathology, lymphocyte immunophenotyping and clonality analysis of the canine T-cell receptor gamma locus (TCRγ) rearrangement. The dog presented with symmetrical generalized alopecia. Testicular enlargement was noted which on castration was determined to be caused by bilateral interstitial cell tumours, Sertoli cell tumours and a unilateral seminoma. During the four months after castration the alopecia became more severe and widespread. Histopathology of the skin showed moderate, multifocal, mural folliculitis, peribulbar mucinosis and lymphocytic bulbitis, and targeting of anagen hair follicles. Immunophenotyping of the infiltrate showed a population of well-differentiated, small CD3-positive T lymphocytes, some expressing CD4 and others CD8. Molecular analysis revealed a polyclonal lymphocytic infiltrate, substantiating the diagnosis of alopecia areata rather than lymphoma. Treatment with ciclosporin (4.6 mg/kg) and ketoconazole (4.6 mg/kg) resulted in complete hair regrowth. Ciclosporin treatment, in combination with ketoconazole, can be effective for treatment of alopecia universalis in the dog. Alopecia universalis may present with clinically noninflammatory, symmetrical, generalized alopecia, mimicking an endocrine alopecia, and skin biopsies are needed to confirm the diagnosis. © 2016 ESVD and ACVD.

  2. Problems in distinguishing spinal tuberculosis from neoplasia on MRI

    International Nuclear Information System (INIS)

    Gupta, R.K.; Agarwal, P.; Rastogi, H.; Kumar, S.; Phadke, R.V.; Krishnani, N.

    1996-01-01

    We reviewed MRI studies of 60 patients presenting with extradural compressive myeloradiculopathy secondary to vertebral disease to assess the imaging features which may help in differentiating tuberculous from neoplastic disease. Spin-echo T1-, proton density- and T2-weighted images were available for all patients and fast low-angle shot images with a low flip angle for 21 patients. Contrast-enhanced images were available for 28 patients. There were 41 patients with tuberculosis and 19 patients with neoplastic disease (metastases 11, lymphoma 6, plasmacytoma 1, and giant cell tumour 1). Discovertebral disease with or without involvement of the posterior arch was a feature not only of tuberculous spondylitis (30 patients) but also of metastases (6). The remaining 11 patients with tuberculosis had ''atypical'' involvement (vertebral body with or without posterior arch in 8 and posterior arch alone in 3) described as typical of neoplasms. This ''typical'' involvement was seen in metastases (5), lymphoma (6) and the 2 primary bone tumours. The presence of an abscess helped in differentiating tuberculosis from neoplasia in 22 of the 41 patients with tuberculosis and was absent in all with neoplasms. The presence of bone fragments in 16 patients (8 with and 8 without an abscess) was found to be specific for tuberculosis. In the absence of an abscess or bone fragments, image-guided biopsy is essential to establish the diagnosis. (orig.). With 9 figs., 2 tabs

  3. Ocular Surface Squamous Neoplasia Associated with Atopic Keratoconjunctivitis.

    Science.gov (United States)

    Shah, Ankit; Espana, Edgar M; Singh, Arun D

    2017-01-01

    To describe 2 cases of invasive squamous cell carcinoma that originated in the setting of severe atopic keratoconjunctivitis (AKC). Case one involved a 73-year-old male with atopic eczema and severe AKC who developed a limbal lesion suspicious for ocular surface squamous neoplasia (OSSN). Slit-lamp examination was significant for a new sessile lesion in the temporal limbal region of the left eye. The lesion was treated with excisional biopsy and cryotherapy. Topical therapy with mitomycin C, topical interferon alpha 2b, and topical 5-fluorouracil provided only partial control. Exenteration was eventually needed. Case two involved a 53-year-old male with history of severe AKC and eczema. Computed tomography imaging showed an infiltrative mass of the right orbit. Incisional biopsies confirmed conjunctival squamous cell carcinoma of both sides (invasive in the right eye, in situ in the left eye). Exenteration was needed for control of invasive carcinoma in the right eye. Squamous cell carcinoma was treated without success in spite of surgical excision and aggressive treatment with multiple topical agents and multiple applications of cryotherapy. Orbital exenteration was needed in both cases. Chronic inflammation associated with AKC may be a risk factor for the development of bilateral, diffuse, invasive, and recurrent OSSN that may require exenteration.

  4. Immunologic assessment of patients with pulmonary metaplasia and neoplasia

    International Nuclear Information System (INIS)

    Gross, R.L.; Saccomanno, G.; Smith, D.M.; Saunders, R.; Thomas, R.G.

    1979-01-01

    Immune profiles have been obtained on 206 individuals including 57 controls, 50 lung cancer patients, and 99 uranium miners with well-defined sputum cytologies ranging from normal to carcinoma in situ. Little effect of smoking, uranium mining or a combination of mining plus smoking on immune function was observed if sputum cytology was normal. In heavy smokers there was a suggestion that total T cells are increased while T cell function is slightly depressed. Immunologic abnormalities were noted in the moderate atypia group where 40% had one or more abnormal immunologic parameters. Immunologic abnormalities were detected in 68 to 70 patients with marked atypia, carcinoma in situ, or invasive carcinoma. Further sequential study of the uranium miner population is necessary to define more precisely the predictive value of immunologic testing, and the role of early identification of high risk individuals in the early institution of definitive therapy, such as surgery or immunotherapy. Long-term prospective analysis of this population may also provide the answer to the question of whether alterations in immune function precede, or result from the appearance of cells committed to the development of neoplasia

  5. Gestational trophoblastic neoplasia: efficacy of color doppler ultrasound

    International Nuclear Information System (INIS)

    Song, Sun Wha; Jee, Won Hee; Choe, Bo Young; Byun, Jae Young; Choi, Byung Gil; Shinn, Kyung Sub

    1997-01-01

    To evaluate the efficacy of color Doppler ultrasound (US) in the diagnosis of gestational trophoblastic neoplasia (GTN). Intralesional color flows and resistive index (RI) on color Doppler US were prospectively analyzed in 21 consecutive suspected GTN cases. RI of the intralesional artery was investigated on the basis of the presence or absence of mass and metastasis. Correlation between RI of intralesional artery and urinary β-hCG was also investigated. Intralesional color flows were identified in 15 patients with GTN. On operation, intralesional color flows were observed in one of two patients in whom the presence of completely necrotic tissue was confirmed. Intralesional color flows, however, were not detected in four patients who were proved not to be GTN sufferers. Sensitivity, specificity, accuracy, positive and negative predictive values, and accuracy were 100%, 83%, 95%, 94% and 100%, respectively. Significant correlation between RI of the intralesional artery and urinary β-hCG was not established (p=0.49, r=0.19). RI of this artery was not substantially different between groups with and without mass, and between groups with and without metastasis (p=0.32, p=0.82). The current study demonstrates that color Doppler US is a sensitive and useful method for the diagnosis of GTN

  6. Neoplasias endocrinas múltiples. desde el laboratorio al paciente

    Directory of Open Access Journals (Sweden)

    Dr. G. Nelson Wohllk

    2013-09-01

    Full Text Available Las neoplasias endocrinas múltiples (NEM tipo 1 y 2 son enfermedades genéticas heredadas en forma autosómica dominante. Las principales manifestaciones clínicas en NEM1 incluyen tumores paratiroideos, hipofisiarios y gastroenteropancreáticos. El test genético se puede realizar en los pacientes y potenciales portadores de mutaciones en el gen menin, pero la correlación genotipo-fenotipo es menos directa en comparación a NEM2. En la NEM2 el cáncer medular de tíroides (CMT es común a los tres subtipos: NEM2A (feocromocitoma e hiperparatiroidismo, NEM2B (feocromocitoma y neuromas mucosos y CMT familiar. A aquellos pacientes con mutación RET se les debe recomendar la realización de tiroidectomía profiláctica en la niñez, de acuerdo a la categoría de riesgo ATA. Algunos casos de CMT aparentemente esporádicos son actualmente NEM2 después de la realización del estudio genético para proto-oncogen RET, por lo tanto se recomienda la aplicación rutinaria de este estudio a todos los pacientes con CMT aparentemente esporádico.

  7. INFECTION WITH HUMAN PAPILLOMA VIRUS IN CERVICAL NEOPLASIA

    Directory of Open Access Journals (Sweden)

    Eduard Crauciuc

    2010-09-01

    Full Text Available The purpose of this study was to establish if the infection with human papilloma virus (HPV presents a potential irreversible evolution towards malignancy. Materials and methods. The study was made on a number of 1885 patients that were suspected to have cervical neoplasia, which were monitored between 2001-2010 in „Elena-Doamna” Clinical Hospital of Obstetrics and Gynecology in Ia�i, the Military Hospital Gala�i, the County Hospital Gala�i and the Emergency Hospital Buzau. Results and discussions. The study proved that the risk of contacting a genital infection with HPV and cervical cancer is influenced by the sexual activity, the risk of getting infected with HPV during a person’ s lifetime is at least 50% for those sexually active. Conclusions. The patients benefited from colposcopy and biopsy only if the repeated cytology suggested more severe changes. The conservative conduct is represented by a repeated cytology when the patients are admitted into the lot (the initial cytology is performed before this moment

  8. Endoscopic diagnosis and treatment of early esophageal squamous neoplasia

    Science.gov (United States)

    Shimamura, Yuto; Ikeya, Takashi; Marcon, Norman; Mosko, Jeffrey D

    2017-01-01

    Esophageal cancer is one of the leading causes of cancer-related death and is associated with high morbidity and mortality. It carries a poor prognosis as more than half of patients present with advanced and unresectable disease. One contributing factor is the increased risk of lymph node metastases at early stages of disease. As such, it is essential to detect squamous cell neoplasia (SCN) at an early stage. In order to risk stratify lesions, endoscopists must be able to perform image enhanced endoscopy including magnification and Lugol’s chromoendoscopy. The assessment of both the horizontal extent and depth of any lesion is also of utmost importance prior to treatment. Endoscopic mucosal resection and submucosal dissection remain the standard of care with literature supportive their respective use. Radiofrequency ablation and other endoscopic treatments are currently available although should not be considered first line at this time. Our objective is to review the current options for the endoscopic diagnosis and treatment of esophageal SCN. PMID:28979708

  9. Tuberculose intestinal de localização colônica simulando neoplasia: relato de caso = Intestinal tuberculosis in colonic location mimicking neoplasia: case report

    Directory of Open Access Journals (Sweden)

    Souza, Hamilton Petry de

    2011-01-01

    Conclusões: achados endoscópicos e histopatológicos pré-operatórios devem ser interpretados cuidadosamente e sempre correlacionados com o contexto clínico. O diagnóstico diferencial das lesões colônicas deve incluir neoplasias malignas e outras possíveis etiologias, como a tuberculose extrapulmonar

  10. Development of colonic neoplasia in p53 deficient mice with experimental colitis induced by dextran sulphate sodium

    Science.gov (United States)

    Fujii, S; Fujimori, T; Kawamata, H; Takeda, J; Kitajima, K; Omotehara, F; Kaihara, T; Kusaka, T; Ichikawa, K; Ohkura, Y; Ono, Y; Imura, J; Yamaoka, S; Sakamoto, C; Ueda, Y; Chiba, T

    2004-01-01

    Background: Several animal models for human ulcerative colitis (UC) associated neoplasia have been reported. However, most neoplasias developed in these models have morphological and genetic characteristics different from UC associated neoplasia. Aims: To establish a new colitis associated neoplasia model in p53 deficient mice by treatment with dextran sulphate sodium (DSS). Methods: DSS colitis was induced in homozygous p53 deficient mice (p53−/−-DSS), heterozygous p53 deficient mice (p53+/−-DSS) and wild-type mice (p53+/+-DSS) by treatment with 4% DSS. Numbers of developed neoplasias were compared among the experimental groups, and macroscopic and microscopic features of the neoplasias were analysed. Furthermore, K-ras mutation and beta-catenin expression were assessed. Results: p53−/−-DSS mice showed 100% incidence of neoplasias whereas the incidences in p53+/−-DSS and p53+/+-DSS mice were 46.2% and 13.3%, respectively. No neoplasias were observed in the control groups. The mean numbers of total neoplasias per mouse were 5.0 (p53−/−-DSS), 0.62 (p53+/−-DSS), and 0.2 (p53+/+-DSS). The number of neoplasias per mouse in the p53−/−-DSS group was significantly higher than that in the other DSS groups. The incidences of superficial type neoplasias were 91.7% in p53−/−-DSS mice, 75.0% in p53+/−-DSS mice, and 33.3% in p53+/+-DSS mice. The K-ras mutation was not detected in any of the neoplasias tested. Translocation of beta-catenin from the cell membrane to the cytoplasm or nucleus was observed in 19 of 23 (82.6%) neoplasias. Conclusions: The p53−/−-DSS mice is an excellent animal model of UC associated neoplasia because the morphological features and molecular genetics are similar to those of UC associated neoplasia. Therefore, this model will contribute to the analysis of tumorigenesis related to human UC associated neoplasia and the development of chemopreventive agents. PMID:15082590

  11. Modern Surgical Management of Familial and Sporadic Parathyroid and Adrenal Disorders

    NARCIS (Netherlands)

    Scholten, A.

    2013-01-01

    Primary hyperparathyroidism (pHPT) is a common disease of the parathyroid glands. Multiple endocrine neoplasia (MEN) 1-related pHPT is most often caused by multiglandular disease and can best be treated with subtotal parathyroidectomy (3-3½ glands) and bilateral transcervical thymectomy to lower the

  12. Lobular neoplasia - borderline type of lesion - risk of subsequent development of invasive lobular carcinoma of the breast, 13 years after excision of radial scar with multifocal lobular neoplasia

    International Nuclear Information System (INIS)

    Wardzynska, K.; Wesolowska, E.; Baranska, J.

    2010-01-01

    Background. Lobular neoplasia is a hyperplastic breast lesion - a borderline type of lesion with a high risk of subsequent development of invasive carcinoma. In case of radial scar diagnosis the risk of invasive carcinoma increases twice in comparison with healthy patients population while in the case of lobular neoplasia diagnosis within radial scar this risk increases 8 to 10 times. Basing on the presented case we analyse and review the literature regarding the clinical, radiological and pathological aspects of lobular neoplasia of the breast. Case report. A 67-yeas old patient was hospitalised in 1995 in order to consult the results of mammography, which revealed a radial scar lesion of the right breast. The patient was then referred to undergo wide local excision. Pathological examination showed dysplastic changes of the radial scar type with 1 cm multifocal lobular neoplasia. The patient was systematically followed clinically and radiologically during the decade 1996-2006 and all examination results were normal. In 2008, an ill-defined nodule appeared within the scar on mammography examination. This was categorized as BI-RADS 4C. The mammotomic biopsy performed under ultrasonography control revealed invasive lobular carcinoma. The tumor was totally locally excised and the sentinel node was histologically verified. The histopathological examination revealed a 1.6 cm focus of invasive lobular carcinoma and the sentinel node was negative. Conclusion. Patients with detected lobular neoplasia should be treated as a risk group of invasive breast cancer development (30-40% vs 10% in a healthy population during the entire life period). Systematic clinical and radiological follow-up should be mandatory. (authors)

  13. Sample entropy analysis of cervical neoplasia gene-expression signatures

    Directory of Open Access Journals (Sweden)

    Salama Salama A

    2009-02-01

    Full Text Available Abstract Background We introduce Approximate Entropy as a mathematical method of analysis for microarray data. Approximate entropy is applied here as a method to classify the complex gene expression patterns resultant of a clinical sample set. Since Entropy is a measure of disorder in a system, we believe that by choosing genes which display minimum entropy in normal controls and maximum entropy in the cancerous sample set we will be able to distinguish those genes which display the greatest variability in the cancerous set. Here we describe a method of utilizing Approximate Sample Entropy (ApSE analysis to identify genes of interest with the highest probability of producing an accurate, predictive, classification model from our data set. Results In the development of a diagnostic gene-expression profile for cervical intraepithelial neoplasia (CIN and squamous cell carcinoma of the cervix, we identified 208 genes which are unchanging in all normal tissue samples, yet exhibit a random pattern indicative of the genetic instability and heterogeneity of malignant cells. This may be measured in terms of the ApSE when compared to normal tissue. We have validated 10 of these genes on 10 Normal and 20 cancer and CIN3 samples. We report that the predictive value of the sample entropy calculation for these 10 genes of interest is promising (75% sensitivity, 80% specificity for prediction of cervical cancer over CIN3. Conclusion The success of the Approximate Sample Entropy approach in discerning alterations in complexity from biological system with such relatively small sample set, and extracting biologically relevant genes of interest hold great promise.

  14. Palbociclib has antitumour effects on Pten-deficient endometrial neoplasias.

    Science.gov (United States)

    Dosil, Maria Alba; Mirantes, Cristina; Eritja, Núria; Felip, Isidre; Navaridas, Raúl; Gatius, Sònia; Santacana, Maria; Colàs, Eva; Moiola, Cristian; Schoenenberger, Joan Antoni; Encinas, Mario; Garí, Eloi; Matias-Guiu, Xavier; Dolcet, Xavier

    2017-06-01

    PTEN is one of the most frequently mutated genes in human cancers. The frequency of PTEN alterations is particularly high in endometrial carcinomas. Loss of PTEN leads to dysregulation of cell division, and promotes the accumulation of cell cycle complexes such as cyclin D1-CDK4/6, which is an important feature of the tumour phenotype. Cell cycle proteins have been presented as key targets in the treatment of the pathogenesis of cancer, and several CDK inhibitors have been developed as a strategy to generate new anticancer drugs. Palbociclib (PD-332991) specifically inhibits CDK4/6, and it has been approved for use in metastatic breast cancer in combination with letrazole. Here, we used a tamoxifen-inducible Pten knockout mouse model to assess the antitumour effects of cyclin D1 knockout and CDK4/6 inhibition by palbociclib on endometrial tumours. Interestingly, both cyclin D1 deficiency and palbociclib treatment triggered shrinkage of endometrial neoplasias. In addition, palbociclib treatment significantly increased the survival of Pten-deficient mice, and, as expected, had a general effect in reducing tumour cell proliferation. To further analyse the effects of palbociclib on endometrial carcinoma, we established subcutaneous tumours with human endometrial cancer cell lines and primary endometrial cancer xenografts, which allowed us to provide more translational and predictive data. To date, this is the first preclinical study evaluating the response to CDK4/6 inhibition in endometrial malignancies driven by PTEN deficiency, and it reveals an important role of cyclin D-CDK4/6 activity in their development. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  15. [Serrated polyps and their association with synchronous advanced colorectal neoplasia].

    Science.gov (United States)

    Urman, Jesús; Gomez, Marta; Basterra, Marta; Mercado, María Del Rosario; Montes, Marta; Gómez Dorronsoro, Marisa; Garaigorta, Maitane; Fraile, María; Rubio, Eva; Aisa, Gregorio; Galbete, Arkaitz

    2016-11-01

    Large serrated polyps (SP), proximal SP, SP with dysplasia and the presence of multiple sessile serrated adenomas/polyps (SSA/P), which we refer to as SP with increased risk of metachronous lesions (SPIRML), have been associated with an increased risk of advanced colon lesions on follow-up. It is unclear, however, whether SPIRML are also associated with an increased risk of synchronous advanced colorectal neoplasia (ACN). The aim of this study was to estimate the prevalence of SPIRML and to evaluate the association between SPIRML and synchronous ACN. A cross-sectional population-based study in all patients (1,538) with histological diagnosis of SP obtained from colonoscopies, sigmoidoscopies and colonic surgery performed in Navarra Health Service hospitals (Spain) in 2011. Demographic parameters and synchronous colonic lesions (adenomas, advanced adenomas [AA] and ACN) were analyzed. One fourth of the sample (384 patients) presented SPIRML. These were older patients, with a slight predominance of women, and with no differences in body mass index (BMI) compared to patients without SPIRML. In the univariate analysis, patients with SPIRML showed an increased risk of adenoma, AA and ACN. In the multivariate analysis, the SPIRML group had a higher risk of synchronous AA and ACN (odds ratio [OR]: 2.38 [1.77-3.21] and OR: 2.29 [1.72-3.05], respectively); in the case of ACN, this risk was statistically significant in both locations (proximal or distal), with OR slightly higher for the proximal location. Different subtypes of SPIRML had a higher risk of AA and synchronous NA. SPIRML were common in patients with SP, and their presence was associated with an increased risk of synchronous ACN. Copyright © 2016 Elsevier España, S.L.U. y AEEH y AEG. All rights reserved.

  16. Pathologic audit of 164 consecutive cases of vulvar intraepithelial neoplasia.

    Science.gov (United States)

    Scurry, James; Campion, Michael; Scurry, Bonnie; Kim, Soo Nyung; Hacker, Neville

    2006-04-01

    There are 2 types of vulvar intraepithelial neoplasia (VIN): warty-basaloid and differentiated. Differentiated VIN is uncommon and seldom diagnosed prior to carcinoma and, traditionally, is not graded. There are currently 3 grading systems for warty-basaloid VIN: the World Health Organization (WHO) 3 grade system of VIN 1-3, a 2 grade system of low and high grade vulvar intraepithelial lesions, and the revised International Society for the Study of Vulvovaginal Disease (ISSVD) classification which has no grading of VIN. According to the ISSVD, VIN 1 should be abolished and VIN 2 and 3 combined into a single category, simply termed warty-basaloid VIN. To determine the best system for grading warty-basaloid VIN and learn more about differentiated VIN, we reviewed the pathology of 164 consecutive women with VIN. Of these, 134 (82.3%) had warty-basaloid VIN, 29 (18.2%) had differentiated VIN, and 1 had both. Of warty-basaloid VIN cases, 4 had VIN 1, 13 VIN 2, and 118 VIN 3 when graded according to the WHO. All VIN 1 occurred in condylomata acuminata. VIN 2 and 3 were distinguished only by degree of abnormality. Differentiated VIN was diagnosed before SCC in only 7 cases (26.7%). Because the only VIN 1 cases seen were in condylomata acuminata and because VIN 2 and 3 were difficult to distinguish and there appears little clinical reason to do so, our study supports the ISSVD proposal that VIN 1 be abolished and VIN 2 and 3 be combined. There needs to be more clinical awareness of vulvar conditions, so that differentiated VIN is biopsied before cancer has supervened.

  17. Human Papillomaviruses; Epithelial Tropisms, and the Development of Neoplasia.

    Science.gov (United States)

    Egawa, Nagayasu; Egawa, Kiyofumi; Griffin, Heather; Doorbar, John

    2015-07-16

    Papillomaviruses have evolved over many millions of years to propagate themselves at specific epithelial niches in a range of different host species. This has led to the great diversity of papillomaviruses that now exist, and to the appearance of distinct strategies for epithelial persistence. Many papillomaviruses minimise the risk of immune clearance by causing chronic asymptomatic infections, accompanied by long-term virion-production with only limited viral gene expression. Such lesions are typical of those caused by Beta HPV types in the general population, with viral activity being suppressed by host immunity. A second strategy requires the evolution of sophisticated immune evasion mechanisms, and allows some HPV types to cause prominent and persistent papillomas, even in immune competent individuals. Some Alphapapillomavirus types have evolved this strategy, including those that cause genital warts in young adults or common warts in children. These strategies reflect broad differences in virus protein function as well as differences in patterns of viral gene expression, with genotype-specific associations underlying the recent introduction of DNA testing, and also the introduction of vaccines to protect against cervical cancer. Interestingly, it appears that cellular environment and the site of infection affect viral pathogenicity by modulating viral gene expression. With the high-risk HPV gene products, changes in E6 and E7 expression are thought to account for the development of neoplasias at the endocervix, the anal and cervical transformation zones, and the tonsilar crypts and other oropharyngeal sites. A detailed analysis of site-specific patterns of gene expression and gene function is now prompted.

  18. Multiple endocrine neoplasia detection on I-123 MIBG imaging

    International Nuclear Information System (INIS)

    Reinhardt, C.A.; McEwan, L.M.; Wong, J.C.H.

    2000-01-01

    Full text: An 123 I meta-iodobenzylguanidine (MIBG) scan was performed on a 54-year-old lady with familial phaeochromocytoma, to evaluate for bilateral or extra-adrenal disease. She has hypertension with raised catecholamines and CT evidence of a right adrenal phaeochromocytoma, and a female sibling with bilateral phaeochromocytoma. Thyroid blockade using Lugol's Iodine was given orally prior to intravenous administration of 370 MBq 123 I MIBG. Planar and SPECT imaging were acquired at 24 hours. There was intense uptake in the known right phaeochromocytoma. An unexpected finding was focal intense uptake in the region of the right thyroid lobe, which may be either a functioning paraganglioma arising from the cervical sympathetic ganglia or a medullary thyroid carcinoma (MTC). At 48 hours, a further image of the neck showed no changes. This was followed by a standard injection of 150 MBq 99 Tc m pertechnetate for thyroid scanning. Imaging obtained on 99 Tc m energy window setting showed a large hypofunctioning region in the right thyroid lobe, corresponding in location to the focal 123 I MIBG uptake. This is in keeping with a MTC, a neuroendocrine tumour, as other thyroid carcinomas are non-MIBG avid. A subsequent serum calcitonin assay showed elevated levels. The patient underwent surgical removal of the right phaeochromocytoma followed several weeks later by a right hemithyroidectomy. Histological reports confirmed the tumour diagnoses. The patient's familial phaeochromocytoma is therefore part of the multiple endocrine neoplasia syndrome Type 2A (MEN 2A). To date, biochemistry has not shown any evidence of hyperparathyroidism which occurs in 15-20 per cent of patients with MEN 2A. Copyright (2000) The Australian and New Zealand Society of Nuclear Medicine Inc

  19. Human Papillomaviruses; Epithelial Tropisms, and the Development of Neoplasia

    Directory of Open Access Journals (Sweden)

    Nagayasu Egawa

    2015-07-01

    Full Text Available Papillomaviruses have evolved over many millions of years to propagate themselves at specific epithelial niches in a range of different host species. This has led to the great diversity of papillomaviruses that now exist, and to the appearance of distinct strategies for epithelial persistence. Many papillomaviruses minimise the risk of immune clearance by causing chronic asymptomatic infections, accompanied by long-term virion-production with only limited viral gene expression. Such lesions are typical of those caused by Beta HPV types in the general population, with viral activity being suppressed by host immunity. A second strategy requires the evolution of sophisticated immune evasion mechanisms, and allows some HPV types to cause prominent and persistent papillomas, even in immune competent individuals. Some Alphapapillomavirus types have evolved this strategy, including those that cause genital warts in young adults or common warts in children. These strategies reflect broad differences in virus protein function as well as differences in patterns of viral gene expression, with genotype-specific associations underlying the recent introduction of DNA testing, and also the introduction of vaccines to protect against cervical cancer. Interestingly, it appears that cellular environment and the site of infection affect viral pathogenicity by modulating viral gene expression. With the high-risk HPV gene products, changes in E6 and E7 expression are thought to account for the development of neoplasias at the endocervix, the anal and cervical transformation zones, and the tonsilar crypts and other oropharyngeal sites. A detailed analysis of site-specific patterns of gene expression and gene function is now prompted.

  20. The Role of Photodynamic Therapy in the Treatment of Vulvar Intraepithelial Neoplasia.

    Science.gov (United States)

    Tosti, Giulio; Iacobone, Anna Daniela; Preti, Eleonora Petra; Vaccari, Sabina; Barisani, Alessia; Pennacchioli, Elisabetta; Cantisani, Carmen

    2018-02-02

    vulvar intraepithelial neoplasia is a non-invasive precursor lesion found in 50-70% of patients affected by vulvar squamous cell carcinoma. In the past, radical surgery was the standard treatment for vulvar intraepithelial neoplasia, however, considering the psychological and physical morbidities related to extensive surgery, several less aggressive treatment modalities have been proposed since the late 1970s. Photodynamic therapy is an effective and safe treatment for cutaneous non-melanoma skin cancer, with favorable cosmetic outcomes. in the present paper, the results of selected studies on photodynamic therapy in the treatment of vulvar intraepithelial neoplasia are reported and discussed. Overall, complete histological response rates ranged between 20% and 67% and symptom response rates ranged between 52% and 89% according to different studies and case series. the real benefit of photodynamic therapy in the setting of vulvar intraepithelial neoplasia lies in its ability to treat multi-focal disease with minimal tissue destruction, preservation of vulvar anatomy and excellent cosmetic outcomes. These properties explain why photodynamic therapy is an attractive option for vulvar intraepithelial neoplasia treatment.

  1. Safety and feasibility of simultaneous endoscopic submucosal dissection for multiple gastric neoplasias.

    Science.gov (United States)

    Joh, Dong Hoo; Park, Chan Hyuk; Jung, Sungmo; Choi, Seung-Ho; Kim, Hyun Ki; Lee, Hyuk; Park, Jun Chul; Shin, Sung Kwan; Lee, Yong Chan; Lee, Sang Kil

    2015-12-01

    Synchronous gastric neoplasms are not infrequently detected, thus endoscopic submucosal dissection (ESD) for multiple early gastric neoplasia is occasionally considered. However, there have been few investigations of the safety and feasibility of simultaneous ESD for multiple gastric lesions. This study aims to evaluate the safety and feasibility of simultaneous ESD for multiple gastric neoplasia. A total of 1823 patients who underwent ESD for 1929 gastric adenomas or early gastric cancers were retrospectively reviewed in this study. Two hundred gastric adenomas or early gastric cancers among 94 patients were treated by ESD simultaneously (multiple group), and 1729 patients were treated with ESD for a single lesion (single group). En bloc resection (P = 0.060), complete resection (P = 0.362) and curative resection (P = 0.108) rates did not differ between the two groups. Rates of adverse events including bleeding (P = 0.317), perforation (P = 0.316) and aspiration pneumonia (P = 0.563) were not higher in the multiple group. Long-term follow-up showed more frequent local recurrence (P neoplasia (P = 0.041) and metachronous neoplasia (P neoplasia is required.

  2. Concurrent endocrine neoplasias in dogs and cats: a retrospective study (2004-2014).

    Science.gov (United States)

    Beatrice, Laura; Boretti, Felicitas Schär; Sieber-Ruckstuhl, Nadja S; Mueller, Claudia; Kümmerle-Fraune, Claudia; Hilbe, Monika; Grest, Paula; Reusch, Claudia E

    2018-03-17

    Multiple endocrine neoplasia (MEN) is a well-known syndrome in human medicine, whereas only a few cases of concurrent endocrine neoplasias have been reported in dogs and cats. The aim of this study was to evaluate the prevalence of concurrent endocrine neoplasias in dogs and cats at our clinic, identify possible breed and sex predispositions and investigate similarities with MEN syndromes in humans. Postmortem reports of 951 dogs and 1155 cats that died or were euthanased at the Clinic for Small Animal Internal Medicine, University of Zurich, between 2004 and 2014 were reviewed, and animals with at least two concurrent endocrine neoplasias and/or hyperplasias were included. Twenty dogs and 15 cats met the inclusion criteria. In dogs, the adrenal glands were most commonly affected. Multiple tumours affecting the adrenal glands and the association of these tumours with pituitary adenomas were the most common tumour combinations. Only one dog had a combination resembling human MEN type 1 syndrome (pituitary adenoma and insulinoma). In cats, the thyroid glands were most commonly affected and there were no similarities to human MEN syndromes. The prevalence of concurrent endocrine neoplasia was 2.1 per cent in dogs and 1.3 per cent in cats and MEN-like syndromes are very rare in these species. © British Veterinary Association (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  3. Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus

    OpenAIRE

    Sreenivasan, Prathima; Peedikayil, Faizal C.; Raj, Sumal V.; Meundi, Manasa Anand

    2013-01-01

    Trismus pseudocamptodactyly syndrome is a very rare autosomal dominant inherited disorder characterized by the inability to completely open the mouth (trismus) and the presence of abnormally short tendon units causing the fingers to curve (camptodactyly). Early diagnosis and management of this condition is important to prevent facial deformities in the patient. Reporting such a case is important as case reports are one of the sources of data for calculating the prevalence of rare diseases. He...

  4. Ocular surface squamous neoplasia in HIV-infected patients: current perspectives.

    Science.gov (United States)

    Rathi, Shweta Gupta; Ganguly Kapoor, Anasua; Kaliki, Swathi

    2018-01-01

    Ocular surface squamous neoplasia (OSSN) refers to a spectrum of conjunctival and corneal epithelial tumors including dysplasia, carcinoma in situ, and invasive carcinoma. In this article, we discuss the current perspectives of OSSN associated with HIV infection, focusing mainly on the epidemiology, pathophysiology, clinical manifestations, diagnosis, and treatment of these tumors in patients with HIV. Upsurge in the incidence of OSSN with the HIV pandemic most severely affected sub-Saharan Africa, due to associated risk factors, such as human papilloma virus and solar ultraviolet exposure. OSSN has been reported as the first presenting sign of HIV/AIDS in 26%-86% cases, and seropositivity is noted in 38%-92% OSSN patients. Mean age at presentation of OSSN has dropped to the third to fourth decade in HIV-positive patients in developing countries. HIV-infected patients reveal large aggressive tumors, higher-grade malignancy, higher incidence of corneal, scleral, and orbital invasion, advanced-stage T4 tumors, higher need for extended enucleation/exenteration, and increased risk of tumor recurrence. Current management of OSSN in HIV-positive individuals is based on standard treatment guidelines described for OSSN in the general population, as there is little information available about various treatment modalities or their outcomes in patients with HIV. OSSN can occur at any time in the disease course of HIV/AIDS, and no significant trend has been discovered between CD4 count and grade of OSSN. Furthermore, the effect of highly active antiretroviral therapy on OSSN is controversial. The current recommendation is to conduct HIV screening in all cases presenting with OSSN to rule out undiagnosed HIV infection. Patient counseling is crucial, with emphasis on regular follow-up to address high recurrence rates and early presentation to an ophthalmologist for of any symptoms in the unaffected eye. Effective evidence-based interventions are needed to allow early diagnosis

  5. Risk factors for ocular surface squamous neoplasia in Kenya: a case-control study.

    Science.gov (United States)

    Gichuhi, Stephen; Macharia, Ephantus; Kabiru, Joy; Zindamoyen, Alain M'bongo; Rono, Hillary; Ollando, Ernest; Wachira, Joseph; Munene, Rhoda; Onyuma, Timothy; Jaoko, Walter G; Sagoo, Mandeep S; Weiss, Helen A; Burton, Matthew J

    2016-12-01

    To determine modifiable risk factors of ocular surface squamous neoplasia (OSSN) in Kenya using disease-free controls. Adults with conjunctival lesions were recruited at four eye care centres in Kenya and underwent excision biopsy. An equal number of controls having surgery for conditions not affecting the conjunctiva and unrelated to ultraviolet light were group-matched to cases by age group, sex and eye care centre. Associations of risk factors with OSSN were evaluated using multivariable logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (95% CIs). Continuous variables were compared using the t-test or the Wilcoxon-Mann-Whitney U-test depending on their distribution. A total of 131 cases and 131 controls were recruited. About two-thirds of participants were female, and the mean age of cases and controls was 42.1 years and 43.3 years, respectively. Risk factors for OSSN were HIV infection without antiretroviral therapy (ART) use (OR = 48.42; 95% CI: 7.73-303.31) and with ART use (OR = 19.16; 95% CI: 6.60-55.57), longer duration of exposure to the sun in the main occupation (6.9 h/day vs. 4.6 h/day, OR = 1.24; 95% CI: 1.10-1.40) and a history of allergic conjunctivitis (OR = 74.61; 95% CI: 8.08-688.91). Wearing hats was protective (OR = 0.22; 95% CI: 0.07-0.63). Measures to prevent and control HIV, reduce sun exposure such as wearing hats and control allergic conjunctivitis are recommended. © 2016 The Authors. Tropical Medicine & International Health Published by John Wiley & Sons Ltd.

  6. Metformin and Anti-Cancer Therapeutics: Hopes for a More Enhanced Armamentarium Against Human Neoplasias?

    Science.gov (United States)

    Christodoulou, Maria-Ioanna; Scorilas, Andreas

    2017-01-01

    Metformin, a natural product from Galega officinalis, is an oral drug, now in the forefront of the therapeutic management of type-2 diabetes mellitus. A series of clinical observations of the last decades, support that metformin may contribute to lowering the risk of cancer development in diabetic patients, and also to improvement of response-to-therapy and survival in individuals with certain types of malignancies. Moreover, several preclinical in vitro and in vivo data indicate that metformin indeed exerts anti-proliferative capacities upon tumor cells mediated through a variety of mechanisms. Interestingly, metformin has been shown to act in synergy with certain anti-cancer agents and also to overcome chemo- and/or radio-resistance of various types of tumors, providing a hopeful rationale for novel therapeutic strategies against cancer development and progression. However, this remains an issue of controversy, since significant contradictions exist among the available data. Limitations of preclinical studies and caveats of epidemiological works, together with significant variances among the several types of cancer and the fact that the mode of metformin's action is largely unknown, make longitudinal surveys urgently needed. Now, a plethora of large clinical trials are active worldwide, aiming at determining the effect of metformin in the prevention or prognosis of a variety of human cancers. If encouraging results arise, metformin will be an attractive candidate adjuvant in the management of human neoplasias, due to its safety, tolerability and low-cost, expected to mitigate adverse effects and no-response parameters of current anti-cancer therapeutics, thus improving the quality of life and survival of cancer patients. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  7. Cervical intraepithelial neoplasia grade 2 or worse in Galicia, Spain: HPV 16 prevalence and vaccination impact.

    Science.gov (United States)

    Pérez-Castro, Sonia; Lorenzo-Mahía, Yolanda; Iñarrea Fernández, Amparo; Lamas-González, María José; Sarán-Díez, María Teresa; Rubio-Alarcón, Joaquín; Reboredo-Reboredo, María Consuelo; Mosteiro-Lobato, Sonia; López-Miragaya, Isabel; Torres-Piñón, Julio; Melón-García, Santiago

    2014-10-01

    The etiology of cervical intraepithelial neoplasia grade 2 or worse (CIN2+) can influence the efficacy of Public Health preventive strategies. This study aimed to determine the high-risk papillomavirus (HR-HPV) prevalence in CIN2+ cases in unvaccinated women in Galicia (Spain), the expected impact of bivalent vaccination, and the distribution of HPV 16 in squamous lesions. Ninety-four histologically confirmed cases of CIN2+ (2009-2010) were retrospectively studied: 23 CIN2, 58 CIN3- squamous carcinoma in situ (CIN3-CIS), 5 adenocarcinoma in situ (AIS), and 8 invasive squamous cervical cancer (SCC). Linear Array HPV Genotyping Test (Roche Diagnostics, Mannheim, Germany) was performed on the cervical specimens. Bivalent vaccination impact was calculated, based on regional vaccination coverage data, local HR-HPV prevalence, and reported efficacy (direct and cross-protection) of the vaccine. HR-HPV prevalence was 96.8%. The most frequent genotypes were HPV 16 (48.8-58.2%) and HPV 31 (9.3%-12.1%), considering single infections or single-multiple infections, respectively (hierarchical attribution). In squamous lesions, HPV 16 prevalence in women younger than 45 years of age increased in severe lesions (CIN3-CIS/SCC, OR 4.2), and was higher than in older women (OR 5.5). The vaccine could reduce the cumulative incidence of CIN2+ by 50.6% (direct protection), or by 62.7% (direct and cross-protection). HPV vaccination could have a great impact in women younger than 45 years of age due to the high prevalence of HPV 16 in their lesions. Copyright © 2013 Elsevier España, S.L.U. y Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

  8. Human papillomavirus genotype in cervical intraepithelial neoplasia grades 2 and 3 of Taiwanese women.

    Science.gov (United States)

    Chao, Angel; Jao, Mei-Shan; Huang, Chu-Chun; Huang, Huei-Jean; Cheng, Hui-Hsin; Yang, Jung-Erh; Hsueh, Swei; Chen, Tse-Ching; Qiu, Jian-Tai; Lin, Cheng-Tao; Fu, Chang-Jui; Chou, Hung-Hsueh; Lai, Chyong-Huey

    2011-02-01

    We aimed to assess the distribution of human papillomavirus (HPV) genotypes in high-grade cervical lesions in Taiwan. The study included 1,086 paraffin-embedded, formaldehyde-fixed cervical intraepithelial neoplasia (CIN) 2/3 specimens. HPV genotyping was performed using polymerase chain reaction (PCR)-based methods. Multiple HPV types were validated by E6 type-specific PCR, direct sequencing and/or real-time PCR. HPV DNA was detected in 995 (91.6%) specimens, and multiple HPV types were identified in 192 (19.3%) samples. The leading HPV types were HPV16 (24%), HPV52 (20%), HPV58 (20%), HPV33 (13%), HPV31 (8%) and HPV18 (4.6%). Although the leading six types consisted of 87.6%, HPV16 or 18 comprised only 30.9%. The prevalence of different HPV types showed a significant association with age. In women older than 50 yr, HPV16 and 18 comprised 21.3% (83/389), while HPV52, 58 and 33 represented 55.5% (216/389). In women aged less than 50 yr, HPV16 and 18 comprised 32.1% (224/697, p HPV 52, 58 and 33 represented 47.9% (334/697, p = 0.02). The distribution of HPV genotypes was compared with previously reported findings for Taiwanese women with cervical cancer (CC). The overall HPV16 positivity rate was significantly higher in CC than in CIN 2/3 (odds ratio: 2.14, 95% CI: 1.91-2.40). In addition, HPV18, 39 and 45 were significantly overrepresented in CC, whereas HPV52, 58, 33, 31, 35, 51 and 53 were underrepresented. We concluded that an effective vaccine against the most common HPV types could prevent a significant proportion of cervical cancer cases that occur in Taiwan.

  9. Magnetic resonance spectroscopic abnormalities in sporadic and variant Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    Pandya, H.G.; Coley, S.C.; Wilkinson, I.D.; Griffiths, P.D.

    2003-01-01

    AIM: To study the proton MR spectroscopic findings in Creutzfeldt-Jakob disease (CJD) (sporadic and variant). MATERIALS AND METHODS: MR imaging and proton MR spectra were acquired in two patients with sporadic CJD (biopsy proven) and one patient with variant CJD. RESULTS: The two patients with sporadic CJD demonstrated MR signal change within the basal ganglia and thalami and reduced N-acetylaspartate (NAA):creatine ratios. The patient with variant CJD showed characteristic signal change within the pulvinar of the thalami and a markedly reduced N-acetylaspartate:creatine ratio. CONCLUSION: All three patients with CJD demonstrated evidence of reduced N-acetylaspartate: creatine ratios on MR spectroscopy. These changes imply that neuronal loss and/or dysfunction is a consistent finding in established CJD. Pandya H. G., et al (2003) Clinical Radiology58, 148--153

  10. Magnetic resonance spectroscopic abnormalities in sporadic and variant Creutzfeldt-Jakob disease

    Energy Technology Data Exchange (ETDEWEB)

    Pandya, H.G.; Coley, S.C.; Wilkinson, I.D.; Griffiths, P.D

    2003-02-01

    AIM: To study the proton MR spectroscopic findings in Creutzfeldt-Jakob disease (CJD) (sporadic and variant). MATERIALS AND METHODS: MR imaging and proton MR spectra were acquired in two patients with sporadic CJD (biopsy proven) and one patient with variant CJD. RESULTS: The two patients with sporadic CJD demonstrated MR signal change within the basal ganglia and thalami and reduced N-acetylaspartate (NAA):creatine ratios. The patient with variant CJD showed characteristic signal change within the pulvinar of the thalami and a markedly reduced N-acetylaspartate:creatine ratio. CONCLUSION: All three patients with CJD demonstrated evidence of reduced N-acetylaspartate: creatine ratios on MR spectroscopy. These changes imply that neuronal loss and/or dysfunction is a consistent finding in established CJD. Pandya H. G., et al (2003) Clinical Radiology58, 148--153.

  11. Hospital Admissions, Biological Therapy, and Surgery in Familial and Sporadic Cases of Inflammatory Bowel Disease

    DEFF Research Database (Denmark)

    Trier Moller, Frederik; Andersen, Vibeke; Andersson, Mikael

    2015-01-01

    BACKGROUND: Easily accessible predictors of disease course in inflammatory bowel disease (IBD) are scarce, and it remains largely unknown whether a family history of IBD predicts the course of Crohn's disease (CD) and ulcerative colitis (UC). We aimed to compare the course of disease in familial...... and sporadic cases of IBD. However, patients with familial CD had significantly higher risk of major surgery than sporadic CD cases after 2 years of disease duration (hazard ratio, 1.62; 95% confidence interval, 1.26-2.07). Also, sensitivity analysis suggested a slightly reduced time from diagnosis to first......-related hospitalization, biological treatment, and surgery in familial versus sporadic cases of IBD. RESULTS: A total of 27,886 IBD cases, including 1006 IBD-relative pairs, were followed-up for up to 16 years, totaling 164,979 person-years. We observed no difference in risk of hospital admissions between familial...

  12. BRCA 1/2-Mutation Related and Sporadic Breast and Ovarian Cancers: More Alike than Different

    Science.gov (United States)

    Burgess, Melissa; Puhalla, Shannon

    2014-01-01

    No longer is histology solely predictive of cancer treatment and outcome. There is an increasing influence of tumor genomic characteristics on therapeutic options. Both breast and ovarian cancers are at higher risk of development in patients with BRCA 1/2-germline mutations. Recent data from The Cancer Genome Atlas and others have shown a number of genomic similarities between triple negative breast cancers (TNBCs) and ovarian cancers. Recently, poly (ADP-ribose) polymerase (PARP) inhibitors have shown promising activity in hereditary BRCA 1/2-mutated and sporadic breast and ovarian cancers. In this review, we will summarize the current literature regarding the genomic and phenotypic similarities between BRCA 1/2-mutation related cancers, sporadic TNBCs, and sporadic ovarian cancers. We will also review Phase I, II, and III data using PARP inhibitors for these malignancies and compare and contrast the results with respect to histology. PMID:24579064

  13. Microsatellite D21D210 (GT-12) allele frequencies in sporadic Alzheimer's disease

    International Nuclear Information System (INIS)

    Lannfelt, L.; Lilius, L.; Viitanen, M.; Winblad, B.; Basun, H.; Houlden, H.; Rossor, M.; Hardy, J.

    1995-01-01

    Four disease-causing mutations have so far been described in the amyloid precursor protein gene on chromosome 21 in familial early-onset Alzheimer's disease. Linkage analysis with a fourteen-allele microsatellite at D21S210 named GT-12 has proven useful in the elucidation of amyloid presursor protein gene involvement in Alzheimer's disease families, as it is closely linked to the gene. Most cases of Alzheimer's disease are thought to be sporadic and not familial. However, evidence from earlier studies suggests an important genetic contribution also in sporadic cases, where gene-environment interaction may contribute to the disease. We have determined frequencies of the GT-12 alleles in 78 Swedish and 49 British sporadic Alzheimer's disease cases and 104 healthy elderly control subjects, to investigate if the disease associates with a particular genotype in GT-12. However, no differences in allele frequencies were observed between any of the groups. (au) (26 refs.)

  14. Neuropathological and biochemical criteria to identify acquired Creutzfeldt-Jakob disease among presumed sporadic cases.

    Science.gov (United States)

    Kobayashi, Atsushi; Parchi, Piero; Yamada, Masahito; Mohri, Shirou; Kitamoto, Tetsuyuki

    2016-06-01

    As an experimental model of acquired Creutzfeldt-Jakob disease (CJD), we performed transmission studies of sporadic CJD using knock-in mice expressing human prion protein (PrP). In this model, the inoculation of the sporadic CJD strain V2 into animals homozygous for methionine at polymorphic codon 129 (129 M/M) of the PRNP gene produced quite distinctive neuropathological and biochemical features, that is, widespread kuru plaques and intermediate type abnormal PrP (PrP(Sc) ). Interestingly, this distinctive combination of molecular and pathological features has been, to date, observed in acquired CJD but not in sporadic CJD. Assuming that these distinctive phenotypic traits are specific for acquired CJD, we revisited the literature and found two cases showing widespread kuru plaques despite the 129 M/M genotype, in a neurosurgeon and in a patient with a medical history of neurosurgery without dura mater grafting. By Western blot analysis of brain homogenates, we revealed the intermediate type of PrP(Sc) in both cases. Furthermore, transmission properties of brain extracts from these two cases were indistinguishable from those of a subgroup of dura mater graft-associated iatrogenic CJD caused by infection with the sporadic CJD strain V2. These data strongly suggest that the two atypical CJD cases, previously thought to represent sporadic CJD, very likely acquired the disease through exposure to prion-contaminated brain tissues. Thus, we propose that the distinctive combination of 129 M/M genotype, kuru plaques, and intermediate type PrP(Sc) , represents a reliable criterion for the identification of acquired CJD cases among presumed sporadic cases. © 2015 Japanese Society of Neuropathology.

  15. Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism.

    Science.gov (United States)

    Tomiyama, Hiroyuki; Li, Yuanzhe; Yoshino, Hiroyo; Mizuno, Yoshikuni; Kubo, Shin-Ichiro; Toda, Tatsushi; Hattori, Nobutaka

    2009-05-22

    DJ-1 mutations cause autosomal recessive parkinsonism (ARP). Although some reports of DJ-1 mutations have been published, there is lack of information on the prevalence of these mutations in large-scale studies of both familial and sporadic parkinsonism. In this genetic screening study, we analyzed the distribution and frequency of DJ-1 mutations by direct nucleotide sequencing of coding exons and exon-intron boundaries of DJ-1, in 386 parkin-negative parkinsonism patients (371 index cases: 67 probands of autosomal recessive parkinsonism families, 90 probands of autosomal dominant parkinsonism families, 201 patients with sporadic parkinsonism, and 13 with unknown family histories) from 12 countries (Japan 283, China 27, Taiwan 22, Korea 22, Israel 16, Turkey 5, Philippines 2, Bulgaria 2, Greece 2, Tunisia 1, USA 2, Ukraine 1, unknown 1). None had causative mutation in DJ-1, suggesting DJ-1 mutation is very rare among patients with familial and sporadic parkinsonism from Asian countries and those with other ethnic background. This is in contrast to the higher frequencies and worldwide distribution of parkin- and PINK1-related parkinsonism in ARP and sporadic parkinsonism. Thus, after obtaining clinical information, screening for mutations in (1) parkin, (2) PINK1, (3) DJ-1, (4) ATP13A2 should be conducted in that order, in ARP and sporadic parkinsonism, based on their reported frequencies. In addition, haplotype analysis should be employed to check for homozygosity of 1p36, which harbors a cluster of causative genes for ARP such as DJ-1, PINK1 and ATP13A2 in ARP and sporadic parkinsonism, especially in parkinsonism with consanguinity.

  16. Simultaneous observation of sporadic E with a rapid-run ionosonde and VHF coherent backscatter radar

    Directory of Open Access Journals (Sweden)

    T. Maruyama

    2006-03-01

    Full Text Available During the SEEK 2 rocket campaign, ionograms were recorded every minute at the Yamagawa Radio Observatory at about 90km west of the region monitored by a VHF (very high frequency coherent backscatter radar. Sporadic E-layer parameters, which include the critical (foEs and blanketing (fbEs frequencies, the layer height (h'Es, and the width of the range spread of sporadic E-traces, were compared with RTI (range-time-intensity plots of VHF quasi-periodic (QP and continuous coherent backscatter echoes. A close relationship was found between the appearance of QP echoes in the RTI plots and the level of spatial inhomogeneity in sporadic E plasma, signified here by the difference between foEs and fbEs. During QP echo events, foEs increased while fbEs decreased, so that the difference foEs-fbEs was enhanced, indicating the development of strong spatial structuring in electron density within a sporadic E-layer. On the other hand, increases in sporadic E range spreading also correlated with the occurrence of QP echoes but the degree of correlation varied from event to event. Continuous radar echoes were observed in association with low altitude sporadic E-layers, located well below 100 km and at times as low as 90 km. During the continuous echo events, both foEs and fbEs were less variable, and the difference foEs-fbEs was small and not as dynamic as in the QP echoes. On the other hand, the Es-layer spread intensified during continuous echoes, which means that some patchiness or corrugation in those low altitude layers is also necessary for the continuous backscatter echoes to take place.

  17. Simultaneous observation of sporadic E with a rapid-run ionosonde and VHF coherent backscatter radar

    Directory of Open Access Journals (Sweden)

    T. Maruyama

    2006-03-01

    Full Text Available During the SEEK 2 rocket campaign, ionograms were recorded every minute at the Yamagawa Radio Observatory at about 90km west of the region monitored by a VHF (very high frequency coherent backscatter radar. Sporadic E-layer parameters, which include the critical (foEs and blanketing (fbEs frequencies, the layer height (h'Es, and the width of the range spread of sporadic E-traces, were compared with RTI (range-time-intensity plots of VHF quasi-periodic (QP and continuous coherent backscatter echoes. A close relationship was found between the appearance of QP echoes in the RTI plots and the level of spatial inhomogeneity in sporadic E plasma, signified here by the difference between foEs and fbEs. During QP echo events, foEs increased while fbEs decreased, so that the difference foEs-fbEs was enhanced, indicating the development of strong spatial structuring in electron density within a sporadic E-layer. On the other hand, increases in sporadic E range spreading also correlated with the occurrence of QP echoes but the degree of correlation varied from event to event. Continuous radar echoes were observed in association with low altitude sporadic E-layers, located well below 100 km and at times as low as 90 km. During the continuous echo events, both foEs and fbEs were less variable, and the difference foEs-fbEs was small and not as dynamic as in the QP echoes. On the other hand, the Es-layer spread intensified during continuous echoes, which means that some patchiness or corrugation in those low altitude layers is also necessary for the continuous backscatter echoes to take place.

  18. Coinfection of Epstein-Barr virus, cytomegalovirus, herpes simplex virus, human papillomavirus and anal intraepithelial neoplasia in HIV patients in Amazon, Brazil

    Directory of Open Access Journals (Sweden)

    Adriana Gonçalves Daumas Pinheiro Guimarães

    2012-03-01

    Full Text Available OBJECTIVE: The prevention of anal cancer is a goal of worldwide Aids support centers. Despite the efforts that have been made and progress in the antiretroviral therapy, effective disease control remains elusive. Difficulty in preventing anal cancer may result from the ineffectiveness of highly active antiretroviral therapy on the human papillomavirus (HPV since the coinfection with HIV and HPV appears to increase the risk of HPV-infected cells, becoming cancerous. METHODS: We evaluated 69 HIV-positive and 30 HIV-negative male patients who underwent cytological evaluation by RT-PCR for the presence of HPV, Epstein-Barr virus, cytomegalovirus and herpes virus types (HSV 1 and 2, and histopathology analysis of the anal canal. RESULTS: The prevalence of anal intraepithelial neoplasia was 35% and it was restricted to HIV-positive patients. Patients infected with high-risk HPV and with fewer than 50 TCD4 cells/µL showed an anal intraepithelial neoplasia rate of 85.7% compared to those with TCD4 cells >200 cells/µL (pOBJETIVO: A prevenção do câncer anal tem sido aplicada pelos centros de apoio a pacientes com Aids em todo o mundo. Apesar dos esforços empregados, o eficaz controle da doença permanece distante. A dificuldade na prevenção do câncer anal pode resultar, em parte, da ineficácia da ação da terapia antirretroviral sobre o papilomavírus humano (HPV, pois a coinfecção com HIV e HPV parece aumentar o risco das células infectadas pelo HPV em tornarem-se cancerosas. MÉTODOS: Foram avaliados 69 HIV-positivos e 30 pacientes HIV-negativos do sexo masculino, que foram submetidos à avaliação citológica anal por real time-PCR para a presença de HPV, vírus Epstein-Barr, citomegalovírus e herpes vírus tipos (HSV 1 e 2 além da análise histopatológica de fragmento de mucosa do canal anal. RESULTADOS: A prevalência de neoplasia intraepitelial anal foi de 35% e foi restrita a pacientes HIV-positivos. Os pacientes infectados com o

  19. Cortical restricted diffusion as the predominant MRI finding in sporadic Creutzfeldt-Jakob disease

    Energy Technology Data Exchange (ETDEWEB)

    Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O. (Dept. of Radiology, Univ. of Louisville, Louisville (United States)), e-mail: sdtalb02@gwise.louisville.edu; Plato, Brian M (Dept. of Neurology, Univ. of Louisville, Louisville (United States)); Parker, John (Dept. of Pathology and Laboratory Medicine, Univ. of Louisville, Louisville (United States))

    2011-04-15

    Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder with MR findings predominantly limited to the grey matter of the cortex and the basal ganglia. Sporadic Creutzfeldt-Jakob disease can produce a spectrum of MR imaging findings of the brain, most notably on DWI and FLAIR sequences. Involvement of the basal ganglia and neocortex is the most common finding, but isolated involvement of the cortex can also be seen. We describe the clinical history and MRI findings of three patients with sporadic Creutzfeldt-Jakob disease confirmed by brain biopsy or autopsy and review the literature of imaging manifestations of this disease

  20. Cortical restricted diffusion as the predominant MRI finding in sporadic Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O.; Plato, Brian M; Parker, John

    2011-01-01

    Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder with MR findings predominantly limited to the grey matter of the cortex and the basal ganglia. Sporadic Creutzfeldt-Jakob disease can produce a spectrum of MR imaging findings of the brain, most notably on DWI and FLAIR sequences. Involvement of the basal ganglia and neocortex is the most common finding, but isolated involvement of the cortex can also be seen. We describe the clinical history and MRI findings of three patients with sporadic Creutzfeldt-Jakob disease confirmed by brain biopsy or autopsy and review the literature of imaging manifestations of this disease

  1. Sporadic Endolymphatic Sac Tumor-A Very Rare Cause of Hearing Loss, Tinnitus, and Dizziness

    DEFF Research Database (Denmark)

    Schnack, Didde Trærup; Kiss, Katalin; Hansen, Søren

    2017-01-01

    Sporadic endolymphatic sac tumor is a very rare neoplasm. It is low malignant, locally destructive and expansive, but non-metastasizing. The tumor is very rare in the sporadic form, but more often associated with Von Hippel-Lindau disease. A 65-year old man with left sided tinnitus and hearing loss......-operative freeze-microscopy showed inflammation tissue, whereas subsequent microscopy showed papillary-cystic endolymphatic sac tumor. Endolymphatic sac tumor is a rare neoplasm. The tumor may present with asymmetrically sensory neural hearing loss with or without tinnitus, dizziness and facial nerve paresis...

  2. Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis.

    Science.gov (United States)

    Statland, Jeffrey M; Barohn, Richard J; McVey, April L; Katz, Jonathan S; Dimachkie, Mazen M

    2015-11-01

    When approaching a patient with suspected motor neuron disease (MND), the pattern of weakness on examination helps distinguish MND from other diseases of peripheral nerves, the neuromuscular junction, or muscle. MND is a clinical diagnosis supported by findings on electrodiagnostic testing. MNDs exist on a spectrum, from a pure lower motor neuron to mixed upper and lower motor neuron to a pure upper motor neuron variant. Amyotrophic lateral sclerosis (ALS) is a progressive mixed upper and lower motor neuron disorder, most commonly sporadic, which is invariably fatal. This article describes a pattern approach to identifying MND and clinical features of sporadic ALS. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease

    DEFF Research Database (Denmark)

    van Eimeren, Thilo; Binkofski, Ferdinand; Buhmann, Carsten

    2010-01-01

    Treatment-related motor complications such as dyskinesias are a major problem in the long-term management of Parkinson's disease (PD). In sporadic PD, a relatively early onset of the disease is known to be associated with an early development of dyskinesias. Although linked with early onset...... selected movements. Patients with Parkin-associated and sporadic PD showed no difference in movement-related activation patterns. Moreover, the covariates 'age' and 'disease duration' similarly influenced brain activation in both patient groups. The present finding suggests that a stable long-term motor...

  4. Reactive GTS Allocation Protocol for Sporadic Events Using the IEEE 802.15.4

    Directory of Open Access Journals (Sweden)

    Mukhtar Azeem

    2014-01-01

    by the IEEE 802.15.4 standard. The proposed control protocol ensures that a given offline sporadic schedule can be adapted online in a timely manner such that the static periodic schedule has not been disturbed and the IEEE 802.15.4 standard compliance remains intact. The proposed protocol is simulated in OPNET. The simulation results are analyzed and presented in this paper to prove the correctness of the proposed protocol regarding the efficient real-time sporadic event delivery along with the periodic event propagation.

  5. Pathological diagnosis of flat epithelial lesions of the biliary tract with emphasis on biliary intraepithelial neoplasia.

    Science.gov (United States)

    Sato, Yasunori; Sasaki, Motoko; Harada, Kenichi; Aishima, Shinichi; Fukusato, Toshio; Ojima, Hidenori; Kanai, Yae; Kage, Masayoshi; Nakanuma, Yasuni; Tsubouchi, Hirohito

    2014-01-01

    Flat epithelial lesions of the biliary tract cannot be detected by the image analysis, and the diagnosis entirely depends on pathological examination. The biliary tract is often affected by inflammatory conditions, and the resultant changes of the biliary epithelium make it difficult to differentiate them from neoplasia. Thus, the pathological diagnosis of biliary flat epithelial lesions can be challenging. In the biliary tract, there are several forms of intraepithelial neoplasia of the flat type, and biliary intraepithelial neoplasia (BilIN) is known as one of such lesions that represent the multistep cholangiocarcinogenesis. In this article, the diagnostic criteria and the differential diagnosis of biliary flat epithelial lesions, particularly focusing on BilIN, were presented and discussed to provide help to advance clinical and research applications of the BilIN system.

  6. [Colorectal cancer prevention by flavonoids].

    Science.gov (United States)

    Hoensch, Harald; Richling, Elke; Kruis, Wolfgang; Kirch, Wilhelm

    2010-08-01

    Valid, sustained and safe clinical means of colorectal cancer prevention are still lacking, but they are urgently needed to lower the incidence of colorectal cancer. Dietary factors and phytochemicals such as flavonoids play an important role for prevention. A selective search of the literature using PubMed was performed with the following key words: flavonoids, cancer, therapy, colorectal cancer focused on clinical queries. Results of clinical studies including the authors' own were compared. In vivo and in vitro studies with animals, cell cultures and subcellular components provide ample evidence for antimutagenic and anticarcinogenic effects of flavonoids as shown for multiple biological and molecular endpoints. Isoflavonoids in vitro have been shown to induce proliferation of breast cancer cells. Epidemiologic trials (cohort, case-control and cross-sectional studies) yielded inconsistent results for flavonoid protection. Systematic reviews and meta-analyses support the protective role of tea flavonoids on adenoma incidence. An interventional pilot study with sustained flavonoid supplementation was shown to reduce the rate of neoplasia in patients with resected colorectal cancer. Selected flavonoids possess antimutagenic and anticarcinogenic properties and could reduce the incidence of colorectal neoplasias as shown in epidemiologic trials. Randomized controlled clinical studies with flavonoid intervention are necessary to provide evidence for their role in colorectal cancer prevention.

  7. Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus

    Directory of Open Access Journals (Sweden)

    Prathima Sreenivasan

    2013-01-01

    Full Text Available Trismus pseudocamptodactyly syndrome is a very rare autosomal dominant inherited disorder characterized by the inability to completely open the mouth (trismus and the presence of abnormally short tendon units causing the fingers to curve (camptodactyly. Early diagnosis and management of this condition is important to prevent facial deformities in the patient. Reporting such a case is important as case reports are one of the sources of data for calculating the prevalence of rare diseases. Here, we report a case of trismus pseudocamptodactyly syndrome in an eight-year-old boy with a brief review of the literature.

  8. Candida and squamous (pre)neoplasia of immigrants and Dutch women as established in population-based cervical screening

    NARCIS (Netherlands)

    Vermeulen, C. F. W.; Verbruggen, B. S. M.; van Haaften, M.; Boon, M. E.; Heintz, A. P. M.

    2006-01-01

    The objective of this study was to establish the relationship between Candida vaginalis and (pre)neoplasia and the prevalence of Candida and (pre)neoplasia related to age and ethnicity. Data were collected from 445,671 asymptomatic women invited for mass screening between 1995 and 2002 and coded

  9. Genetics Home Reference: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

    Science.gov (United States)

    ... Conditions XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Printable PDF Open All Close ... boxes. Description X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym ...

  10. Increased incidence of penile cancer and high-grade penile intraepithelial neoplasia in Denmark 1978-2008

    DEFF Research Database (Denmark)

    Baldur-Felskov, Birgitte; Hannibal, Charlotte Gerd; Munk, Christian

    2012-01-01

    To assess the trends in incidence of penile cancer during 1978-2008 and high-grade penile intraepithelial neoplasia (PIN2/3) during 1998-2008 in Denmark.......To assess the trends in incidence of penile cancer during 1978-2008 and high-grade penile intraepithelial neoplasia (PIN2/3) during 1998-2008 in Denmark....

  11. Radiofrequency ablation for the endoscopic eradication of esophageal squamous high grade intraepithelial neoplasia and mucosal squamous cell carcinoma

    NARCIS (Netherlands)

    van Vilsteren, F. G.; Alvarez Herrero, L.; Pouw, R. E.; ten Kate, F. J.; Visser, M.; Seldenrijk, C. A.; van Berge Henegouwen, M. I.; Weusten, B. L.; Bergman, J. J.

    2011-01-01

    Background and study aims: Radiofrequency ablation (RFA) with or without prior endoscopic resection safely and effectively removes early neoplasia in Barrett's esophagus. We speculated that this approach might also be suited for early squamous neoplasia of the esophagus. The aim of the study was to

  12. Clinical significance of serum anti-human papillomavirus 16 and 18 antibodies in cervical neoplasia.

    Science.gov (United States)

    Chay, Doo Byung; Cho, Hanbyoul; Kim, Bo Wook; Kang, Eun Suk; Song, Eunseop; Kim, Jae-Hoon

    2013-02-01

    To estimate the clinical significance of serum anti-human papillomavirus (HPV) antibodies and high-risk cervical HPV DNA in cervical neoplasia. The study population comprised patients who were histopathologically diagnosed with cervical intraepithelial neoplasia (CIN) 1 (n=64), CIN 2 and 3 (n=241), cervical cancer (n=170), and normal control participants (n=975). Cervical HPV DNA tests were performed through nucleic acid hybridization assay tests, and serum anti-HPV 16 and 18 antibodies were measured by competitive immunoassay. The associations of HPV DNA and anti-HPV antibodies were evaluated with demographic characteristics and compared according to the levels of disease severity. Anti-HPV antibodies were also investigated with clinicopathologic parameters, including survival data. Among various demographic characteristics, factors involving sexual behavior had a higher tendency of HPV DNA positivity and HPV seropositivity. Human papillomavirus DNA mean titer and positivity were both increased in patients with cervical neoplasia compared with those with normal control participants, but there was no statistical difference among types of cervical neoplasia. Serum anti-HPV 16 antibodies were also able to differentiate cervical neoplasia from a normal control participant and furthermore distinguished CIN 1 from CIN 2 and 3 (odd ratio 2.87 [1.43-5.78], P=.002). In cervical cancer, HPV 16 seropositivity was associated with prolonged disease-free survival according to the univariable analysis (hazard ratio=0.12 [0.01-0.94], P=.044). Serum anti-HPV 16 antibodies can distinguish cervical neoplasia from a normal control and has the advantage of identifying high-grade CIN. Moreover, in cervical cancer, HPV 16 seropositivity may be associated with a more favorable prognosis. II.

  13. Immunohistochemical localization of human papilloma virus in conjunctival neoplasias: a retrospective study.

    Science.gov (United States)

    Sen, Seema; Sharma, Anjana; Panda, Anita

    2007-01-01

    The extent of association of human papilloma virus (HPV) in human conjunctival neoplasias has been debated in studies originating from different parts of the world, but no substantial evidence has been generated on Indian subjects. This prompted us to carry out a retrospective study on conjunctival neoplasias diagnosed over the past 12 years. Histopathological and immunohistochemical analysis of 65 specimens of ocular neoplasias and 30 normal controls diagnosed between 1991 and 2002 at a tertiary eye care hospital, was undertaken. Formalin-fixed, paraffin-embedded tissues were reviewed for confirming histopathological diagnosis, presence of koilocytosis and changes related to actinic keratosis. Immunohistochemical analysis was done using HPV-specific monoclonal antibodies. Clinicopathological correlation and the association of HPV antigen with the histopathological features were performed. Out of the 65 cases analyzed, 35 were papillomas and 30 were ocular surface squamous neoplasias (OSSN). The mean age was 48 years with a male preponderance. Histologically, koilocytosis was observed in 17.1% of papillomas and 36.6% of OSSN. Actinic keratosis was present in 33% of OSSN. Immunohistochemically 17.1% conjunctival papillomas stained positive for HPV antigen, all cases of OSSN were negative for HPV. There was no correlation between koilocytosis or actinic keratosis and the detection of HPV antigen. The association between HPV and conjunctival neoplasias is variable in different geographical areas and also depends on the methods of detection used. This study warrants the need for applying more advanced techniques at a molecular level to determine the possible etiology of HPV in conjunctival neoplasias among Asian-Indians.

  14. Computer-aided detection of early Barrett's neoplasia using volumetric laser endomicroscopy.

    Science.gov (United States)

    Swager, Anne-Fré; van der Sommen, Fons; Klomp, Sander R; Zinger, Sveta; Meijer, Sybren L; Schoon, Erik J; Bergman, Jacques J G H M; de With, Peter H; Curvers, Wouter L

    2017-11-01

    Volumetric laser endomicroscopy (VLE) is an advanced imaging system that provides a near-microscopic resolution scan of the esophageal wall layers up to 3-mm deep. VLE has the potential to improve detection of early neoplasia in Barrett's esophagus (BE). However, interpretation of VLE images is complex because of the large amount of data that need to be interpreted in real time. The aim of this study was to investigate the feasibility of a computer algorithm to identify early BE neoplasia on ex vivo VLE images. We used 60 VLE images from a database of high-quality ex vivo VLE-histology correlations, obtained from BE patients ± neoplasia (30 nondysplastic BE [NDBE] and 30 high-grade dysplasia/early adenocarcinoma images). VLE features from a recently developed clinical VLE prediction score for BE neoplasia served as input for the algorithm: (1) higher VLE surface than subsurface signal and (2) lack of layering. With this input, novel clinically inspired algorithm features were developed, based on signal intensity statistics and grayscale correlations. For comparison, generic image analysis methods were examined for their performance to detect neoplasia. For classification of the images in the NDBE or neoplastic group, several machine learning methods were evaluated. Leave-1-out cross-validation was used for algorithm validation. Three novel clinically inspired algorithm features were developed. The feature "layering and signal decay statistics" showed the optimal performance compared with the other clinically features ("layering" and "signal intensity distribution") and generic image analyses methods, with an area under the receiver operating characteristic curve (AUC) of .95. Corresponding sensitivity and specificity were 90% and 93%, respectively. In addition, the algorithm showed a better performance than the clinical VLE prediction score (AUC .81). This is the first study in which a computer algorithm for BE neoplasia was developed based on VLE images with

  15. Comparison of computed tomography and radiography for detecting changes induced by malignant nasal neoplasia in dogs

    International Nuclear Information System (INIS)

    Park, R.D.; Beck, E.R.; LeCouteur, R.A.

    1992-01-01

    The ability of computed tomography and radiography to detect changes associated with nasal neoplasia was compared in dogs. Eighteen areas or anatomic structures were evaluated in 21 dogs for changes indicative of neoplasia. Computed tomography was superior (P < or = 0.05) to radiography for detecting changes in 14 of 18 areas. Radiography was not superior for detecting changes in any structure or area. Computed tomography reveals vital information not always detected radiographically to assist in providing a prognosis and in planning treatment for nasal neoplasms in dogs

  16. A Clinical and Pathological Overview of Vulvar Condyloma Acuminatum, Intraepithelial Neoplasia, and Squamous Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Boris Léonard

    2014-01-01

    Full Text Available Condyloma acuminatum, intraepithelial neoplasia, and squamous cell carcinoma are three relatively frequent vulvar lesions. Condyloma acuminatum is induced by low risk genotypes of human papillomavirus (HPV. Vulvar intraepithelial neoplasia (VIN and squamous cell carcinoma have different etiopathogenic pathways and are related or not with high risk HPV types. The goal of this paper is to review the main pathological and clinical features of these lesions. A special attention has been paid also to epidemiological data, pathological classification, and clinical implications of these diseases.

  17. Developmental arrest of germ cells in the pathogenesis of germ cell neoplasia

    DEFF Research Database (Denmark)

    Rajpert-De Meyts, E; Jørgensen, N; Brøndum-Nielsen, K

    1998-01-01

    Clinical observations and epidemiological evidence suggest that important aetiopathological events that cause neoplastic transformation of the male germ cell may occur in fetal life or early infancy. The incidence of germ cell neoplasia is high in individuals with various disorders of gonadal...... frequency mosaicism XY/XO) which can also be found in patients with testicular cancer. The variety of conditions that predispose to testicular neoplasia and the rise in its incidence in many countries speaks for the influence of environmental factors which may affect genetically predisposed individuals. We...

  18. Phenotypic characterisation of immune cell infiltrates in testicular germ cell neoplasia

    DEFF Research Database (Denmark)

    Hvarness, Tine; Nielsen, John E; Almstrup, Kristian

    2013-01-01

    and overt seminoma, in comparison to biopsies from infertile men without neoplasia. The composition of immune cells was similar across all the groups studied. Macrophages, CD8(+) and CD45R0(+) T lymphocytes constituted the majority of infiltrates, B lymphocytes were present in an intermediate proportion...... and very few CD4(+) and FoxP3(+) T cells were detected. HLA-I antigen was more abundant in Sertoli cells in tubules containing CIS than in those with normal spermatogenesis. This study showed a phenotypically comparable composition of infiltrating immune cells independently of the presence of neoplasia...

  19. The prognostic significance of virus-associated changes in grade 1 cervical intra-epithelial neoplasia

    DEFF Research Database (Denmark)

    Bagi, P; Worning, A M; Nordsten, M

    1987-01-01

    Virus-associated changes of the cervix uteri were assessed in patients treated for grade 1 cervical intra-epithelial neoplasia (CIN). Of 106 patients evaluated, 67 (63%) had virus-associated changes. The patients were treated without regard to the presence/absence of virus-associated changes. In 26...... patients the treatment was unsuccessful (persistence, recurrence, or progression of the neoplasia). The frequency of treatment failure was 33% in patients with, and 10% in patients without virus-associated changes (p less than 0.025). It is recommended that patients with CIN 1 and virus-associated changes...

  20. Human papillomavirus and HIV coinfection and the risk of neoplasias of the lower genital tract: a review of recent developments

    Science.gov (United States)

    Ferenczy, Alex; Coutlée, François; Franco, Eduardo; Hankins, Catherine

    2003-01-01

    ONE OF THE RISK FACTORS FOR HUMAN PAPILLOMAVIRUS (HPV) INFECTION and subsequent lower genital tract neoplasias and cancers is impaired cell-mediated immunity. HIV-positive women with severe immunosuppression are 5 times more likely than HIV-negative women to have lower genital tract neoplasias. A corresponding increase in the risk of invasive vulvar and anal cancers, but not of cervical cancer, has also been observed among HIV-positive women. Treatment failure and recurrence of neoplasia occur much more frequently among HIV-positive than among HIV-negative women. In this review, we discuss recent advances in the understanding of the relation between HIV and HPV coinfection and the development of lower genital tract neoplasias and cancers in women. In addition, we present strategies for monitoring and treating noninvasive and invasive neoplasias of the lower genital tract in HIV-positive women. PMID:12952805

  1. Heat shock protein90 in lobular neoplasia of the breast

    Directory of Open Access Journals (Sweden)

    Patsouris Efstratios

    2008-10-01

    Full Text Available Abstract Background Heat shock protein 90 (Hsp90 overexpression has been implicated in breast carcinogenesis, with putative prognostic and therapeutic implications. The purpose of this study is to evaluate the immunohistochemical expression of Hsp90 and to examine whether Hsp90 expression is associated with estrogen receptor alpha (ER-alpha and beta (ER-beta immunostaining in lobular neoplasia (LN of the breast. Methods Tissue specimens were taken from 44 patients with LN. Immunohistochemical assessment of Hsp90, ER-alpha and ER-beta was performed both in the lesion and the adjacent normal breast ducts and lobules; the latter serving as control. As far as Hsp90 evaluation is concerned: i the percentage of positive cells, and ii the intensity was separately analyzed. Additionally, the Allred score was adopted and calculated. Accordingly, Allred score was separately evaluated for ER-alpha and ER-beta. The intensity was treated as an ordinal variable-score (0: negative, low: 1, moderate: 2, high: 3. Statistical analysis followed. Results Hsp90 immunoreactivity was mainly cytoplasmic in both the epithelial cells of normal breast (ducts and lobules and LN. Some epithelial cells of LN also showed nuclear staining, but all the LN foci mainly disclosed a positive cytoplasmic immunoreaction for Hsp90. In addition, rare intralobular inflammatory cells showed a slight immunoreaction. The percentage of Hsp90 positive cells in the LN areas was equal to 67.1 ± 12.2%, whereas the respective percentage in the normal adjacent breast tissue was 69.1 ± 11.6%; the difference was not statistically significant. The intensity score of Hsp90 staining was 1.82 ± 0.72 in LN foci, while in the normal adjacent tissue the intensity score was 2.14 ± 0.64. This difference was statistically significant (p = 0.029, Wilcoxon matched-pairs signed-ranks test. The Hsp90 Allred score was 6.46 ± 1.14 in the LN foci, significantly lower than in the normal adjacent tissue (6.91

  2. Higher cytoplasmic and nuclear poly(ADP-ribose) polymerase expression in familial than in sporadic breast cancer

    NARCIS (Netherlands)

    Klauke, M.L.; Hoogerbrugge-van der Linden, N.; Budczies, J.; Bult, P.; Prinzler, J.; Radke, C.; van Krieken, J.H.; Dietel, M.; Denkert, C.; Muller, B.M.

    2012-01-01

    Poly(ADP-ribose) polymerase 1 (PARP) is a key element of the single-base excision pathway for repair of DNA single-strand breaks. To compare the cytoplasmic and nuclear poly(ADP-ribose) expression between familial (BRCA1, BRCA2, or non BRCA1/2) and sporadic breast cancer, we investigated 39 sporadic

  3. A randomized trial comparing levothyroxine with radioactive iodine in the treatment of sporadic nontoxic goiter

    NARCIS (Netherlands)

    Wesche, M. F.; Tiel-V Buul, M. M.; Lips, P.; Smits, N. J.; Wiersinga, W. M.

    2001-01-01

    A randomized clinical trial was performed in consecutive patients with sporadic nontoxic nodular goiter to compare efficacy and side effects of iodine-131 ((131)I) therapy with suppressive levothyroxine (L-thyroxine) treatment. Sixty-four patients were randomized after stratification for sex and

  4. CSF Neurofilament Proteins Levels are Elevated in Sporadic Creutzfeldt-Jakob Disease

    NARCIS (Netherlands)

    van Eijk, Jeroen J. J.; van Everbroeck, Bart; Abdo, W. Farid; Kremer, Berry P. H.; Verbeek, Marcel M.

    2010-01-01

    In this study we investigated the cerebrospinal fluid (CSF) levels of neurofilament light (NFL) and heavy chain (NFHp35), total tau (t-tau), and glial fibrillary acidic protein (GFAP) to detect disease specific profiles in sporadic Creutzfeldt Jakob disease (sCJD) patients and Alzheimer's disease

  5. Health professions and risk of sporadic Creutzfeldt- Jakob disease, 1965 to 2010

    NARCIS (Netherlands)

    E. Alcalde-Cabero; J. Almazán-Isla; J-P. Brandel (Jean-Philippe); M. Breithaupt; J. Catarino; S.J. Collins (Steven); J. Haybäck; R. Höftberger (Romana); E. Kahana; G.G. Kovacs (Gabor); A. Ladogana (Anna); E. Mitrová (Eva); A. Molesworth; Y. Nakamura; M. Pocchiari (Maurizio); M. Popovic; M. Ruiz-Tovar; A. Taratuto; C. van Duin; M. Yamada; R.G. Will (Robert); I. Zerr (Inga); J. de Pedro-Cuesta (Jesús)

    2012-01-01

    textabstractIn 2009, a pathologist with sporadic Creutzfeldt- Jakob Disease (sCJD) was reported to the Spanish registry. This case prompted a request for information on health-related occupation in sCJD cases from countries participating in the European Creutzfeldt Jakob Disease Surveillance network

  6. Detection of infectivity in blood of persons with variant and sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Douet, Jean Yves; Zafar, Saima; Perret-Liaudet, Armand; Lacroux, Caroline; Lugan, Séverine; Aron, Naima; Cassard, Herve; Ponto, Claudia; Corbière, Fabien; Torres, Juan Maria; Zerr, Inga; Andreoletti, Olivier

    2014-01-01

    We report the presence of infectivity in erythrocytes, leukocytes, and plasma of 1 person with variant Creutzfeldt-Jakob disease and in the plasma of 2 in 4 persons whose tests were positive for sporadic Creutzfeldt-Jakob disease. The measured infectivity levels were comparable to those reported in various animals with transmissible spongiform encephalopathies.

  7. CT and MRI in iatrogenic and sporadic Creutzfeldt-Jakob disease: as far as imaging perseives

    Energy Technology Data Exchange (ETDEWEB)

    Garcia Santos, J.M. [Servicio de Radiodiagnostico, HU Dr. Morales Meseguer, Murcia (Spain)]|[Section of Neuroradiology, HU Virgen de la Arrixaca, Murcia (Spain); Lopez Corbalan, J.A. [Section of Neuroradiology, HU Virgen de la Arrixaca, Murcia (Spain); Martinez-Lage, J.F. [Service of Neurosurgery, HU Virgen de la Arrixaca, Murcia (Spain); Sicilis Guillen, J. [Service of Neurology, HU Virgen de la Arrixaca, Murcia (Spain)

    1996-04-01

    Creutzfeldt-Jakob Disease (CJD), an invariably fatal dementing illness, affects patients in middle and old age (sporadic form). However, the association of CJD with certain treatments (iatrogenic form) has been described in younger patients. The clinical onset of the two forms seems to differ; in the iatrogenic form a high frequency of the ataxic CJD variant has been reported. Nowadays, a definitive diagnosis of CJD is exclusively histological. We present five cases of CJD, one sporadic and the others iatrogenic, following dura mater grafts and analyse their CT and MRI features. CT typically demonstrates brain atrophy, generally progressive, but in sporadic CJD midfield MRI also showed abnormal signal, with predominant deep grey matter involvement. The use of narrow windows with proton-density sequences may reveal subtle cortical signal abnormalities not clearly visible with conventional windows. The early demonstration of these changes, in the appropriate clinical context, may suggest CJD and this supports the use of mid- or high magnetic fields in the diagnosis of CJD and other forms of dementia. In our cases of iatrogenic CJD, low-field MRI did not reveal more than the progressive atrophy displayed by CT, and raises the question on the one hand of possible differences, based on imaging, from the sporadic form, and on the other of the lack of sensitivity of low-field magnets to signal changes in CJD. (orig.)

  8. CT and MRI in iatrogenic and sporadic Creutzfeldt-Jakob disease: as far as imaging perseives

    International Nuclear Information System (INIS)

    Garcia Santos, J.M.; Lopez Corbalan, J.A.; Martinez-Lage, J.F.; Sicilis Guillen, J.

    1996-01-01

    Creutzfeldt-Jakob Disease (CJD), an invariably fatal dementing illness, affects patients in middle and old age (sporadic form). However, the association of CJD with certain treatments (iatrogenic form) has been described in younger patients. The clinical onset of the two forms seems to differ; in the iatrogenic form a high frequency of the ataxic CJD variant has been reported. Nowadays, a definitive diagnosis of CJD is exclusively histological. We present five cases of CJD, one sporadic and the others iatrogenic, following dura mater grafts and analyse their CT and MRI features. CT typically demonstrates brain atrophy, generally progressive, but in sporadic CJD midfield MRI also showed abnormal signal, with predominant deep grey matter involvement. The use of narrow windows with proton-density sequences may reveal subtle cortical signal abnormalities not clearly visible with conventional windows. The early demonstration of these changes, in the appropriate clinical context, may suggest CJD and this supports the use of mid- or high magnetic fields in the diagnosis of CJD and other forms of dementia. In our cases of iatrogenic CJD, low-field MRI did not reveal more than the progressive atrophy displayed by CT, and raises the question on the one hand of possible differences, based on imaging, from the sporadic form, and on the other of the lack of sensitivity of low-field magnets to signal changes in CJD. (orig.)

  9. Diet-gene interactions in sporadic and hereditary colorectal carcinogenesis : epidemiological perspectives

    NARCIS (Netherlands)

    Voskuil, D.

    1999-01-01

    Colorectal cancer is known to develop by accumulation of alterations in regulatory genes. Both familial and environmental factors play a role in the etiology of colorectal cancer and its adenomatous precursor lesions. This thesis examines diet-gene interactions in sporadic and hereditary

  10. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

    NARCIS (Netherlands)

    Wills, A-M.; Cronin, S.; Slowik, A.; Kasperaviciute, D.; Van Es, M. A.; Morahan, J. M.; Valdmanis, P. N.; Meininger, V.; Melki, J.; Shaw, C. E.; Rouleau, G. A.; Fisher, E. M. C.; Shaw, P. J.; Morrison, K. E.; Pamphlett, R.; Van den Berg, L. H.; Figlewicz, D. A.; Andersen, P. M.; Al-Chalabi, A.; Hardiman, O.; Purcell, S.; Landers, J. E.; Brown, R. H.

    2009-01-01

    Background: Six candidate gene studies report a genetic association of DNA variants within the paraoxonase locus with sporadic amyotrophic lateral sclerosis (ALS). However, several other large studies, including five genome-wide association studies, have not duplicated this finding. Methods: We

  11. Ophthalmoscopy for congenital hypertrophy of the retinal pigment epithelium (CHRPE) in patients with sporadic colorectal carcinoma

    DEFF Research Database (Denmark)

    Hartvigsen, A; Myrhøj, T; Bülow, Steffen

    1995-01-01

    In order to investigate the frequency of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in sporadic colorectal cancer, ophthalmoscopy was carried out in 34 patients with colorectal carcinoma without known familial disposition. CHRPE is one of the most frequent extracolonic...

  12. Mechanism for the formation of sporadic-E layers in the high-latitude ionosphere

    Energy Technology Data Exchange (ETDEWEB)

    Vlasov, M.N.; Mishin, E.V.; Telegin, V.A.

    1980-09-01

    A model of the collective interaction of precipitating electrons and the ionospheric plasma is used to explain the formation of short-duration sporadic-E layers in the high-latitude ionosphere. The changes produced in electron density by this collective interaction mechanism are considered.

  13. Interrelationships between age, thyroid volume, thyroid nodularity, and thyroid function in patients with sporadic nontoxic goiter

    NARCIS (Netherlands)

    Berghout, A.; Wiersinga, W. M.; Smits, N. J.; Touber, J. L.

    1990-01-01

    To test the hypothesis that during the natural history of sporadic nontoxic goiter (SNG), a diffuse goiter precedes a multinodular goiter with gradual development of autonomous thyroid function. A cross-sectional survey of 102 consecutive patients with SNG (seven male, 95 female) was performed.

  14. Sporadic minute medullary thyroid carcinoma with a double RET mutation: A case report.

    Science.gov (United States)

    Yamamoto, Hiroyuki; Ishii, Jun; Chiba, Tomohiro; Nakazato, Yoko; Hirano, Kouichi; Kamma, Hiroshi

    2017-11-01

    We describe a 74-year-old man with a nodular goiter accompanied by an incidental sporadic minute medullary thyroid carcinoma (MTC). Histopathologically, the MTC was a well-defined 1.7 mm tumor in the upper one-third right lobe, with solid cell nests (SCNs) adjacent to the MTC. C-cells were scattered mainly around the SCNs, but C-cell hyperplasia was not evident in the background thyroid. The MTC cell phenotype was immunohistochemically identical to background C-cells, but was completely different from the SCN main cells. Direct DNA analyses of isolated MTC paraffin-embedded specimens revealed two RET proto-oncogene missense point mutations in exon 11 (i.e., C630R and C634W). The non-tumor thyroid tissue did not reveal any mutations. This study reports the smallest case of sporadic MTC with a double RET somatic mutation, substantiating that RET mutations can occur during a very early stage of carcinogenesis. The combined presence of C630R and C634W represent a novel somatic mutation in sporadic MTC. The present case indicates that the sporadic MTC originated from the surrounding C-cells of the SCNs without C-cell hyperplasia and that the SCN main cells may not be able to develop into an MTC. © 2017 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

  15. Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis.

    NARCIS (Netherlands)

    Es, M.A. van; Vught, P.W. van; Veldink, J.H.; Andersen, P.M.; Birve, A.; Lemmens, R.; Cronin, S.; Kooi, A.J. van der; Visser, M. de; Schelhaas, H.J.; Hardiman, O.; Ragoussis, I.; Lambrechts, D.; Robberecht, W.; Wokke, J.H.J.; Ophoff, R.A.; Berg, L.H. van den

    2009-01-01

    A genome-wide association study (GWAS) using pooled DNA samples from 386 sporadic ALS patients and 542 controls from the USA, identified genetic variation in FGGY (FLJ10986) as a risk factor, as well as 66 additional candidate SNPs. Considering the large number of hypotheses that are tested in GWAS,

  16. Medical and environmental risk factors for sporadic frontotemporal dementia: a retrospective case-control study

    NARCIS (Netherlands)

    S.M. Rosso (Sonia); E.J. Landweer; M. Houterman; C.M. van Duijn (Cornelia); J.C. van Swieten (John); L. Donker Kaat (Laura)

    2003-01-01

    textabstractA retrospective case-control study was carried out on 80 patients with sporadic frontotemporal dementia and 124 age, sex, and surrogate informant matched controls with respect to various medical and environmental risk factors. Head trauma was associated with an odds ratio of 3.3 (95%

  17. Glycoform-selective prion formation in sporadic and familial forms of prion disease

    NARCIS (Netherlands)

    Xiao, X.; Yuan, J.; Haïk, S.; Cali, I.; Zhan, Y.; Moudjou, M.; Li, B.; Laplanche, J.L.; Laude, H.; Langeveld, J.P.M.; Gambetti, P.

    2013-01-01

    The four glycoforms of the cellular prion protein (PrP(C)) variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrP(Sc)) in most cases of sporadic prion diseases. However, a prominent molecular characteristic of PrP(Sc) in the recently identified

  18. The clinical phenotype of hereditary versus sporadic prostate cancer: HPC definition revisited

    NARCIS (Netherlands)

    Cremers, R.G.H.M.; Aben, K.K.H.; Oort, I.M. van; Sedelaar, J.P.M.; Vasen, H.F.A.; Vermeulen, S.H.; Kiemeney, L.A.L.M.

    2016-01-01

    BACKGROUND: The definition of hereditary prostate cancer (HPC) is based on family history and age at onset. Intuitively, HPC is a serious subtype of prostate cancer but there are only limited data on the clinical phenotype of HPC. Here, we aimed to compare the prognosis of HPC to the sporadic form

  19. ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas

    DEFF Research Database (Denmark)

    Bueno, R C; Canevari, R A; Villacis, R A R

    2014-01-01

    BACKGROUND: Ataxia telangiectasia-mutated (ATM) gene downexpression has been reported in sporadic breast carcinomas (BC); however, the prognostic value and mechanisms of ATM deregulation remain unclear. PATIENTS AND METHODS: ATM and miRNAs (miR-26a, miR-26b, miR-203, miR-421, miR-664, miR-576-5p...

  20. Sporadic nocturnal frontal lobe epilepsy: A consecutive series of 8 cases

    Directory of Open Access Journals (Sweden)

    Shih-Bin Yeh

    2014-09-01

    Discussion: These cases confirm that sporadic NFLE closely resembles familial NFLE, and comprises a set of distinct clinical manifestations, with variable intensity, and variable scalp EEG epileptiform abnormalities across sleep and wakefulness, which have previously been identified in Caucasian patients from Europe and North America.

  1. S182 and STM2 gene missense mutations in sporadic alzheimer disease

    Energy Technology Data Exchange (ETDEWEB)

    Higuchi, Susumu; Matsushita, Sachio; Hasegawa, Yoshio; Muramatsu, Taro [Kurihama National Hospital, Yokosuka (Japan)] [and others

    1996-07-26

    The linkage of genes S182 and STM2 to early-onset or late-onset sporadic Alzheimer disease (AD) was not found in a group of 97 clinically-diagnosed AD patients and 46 autopsy-confirmed AD cases, using PCR-RFLP methods. 7 refs.

  2. Variation of sporadic meteor activity during the 23. cycle of solar activity

    International Nuclear Information System (INIS)

    Porubcan, V.; Zigo, P.; Cevolani, G.; Rozboril, J.; Pupillo, G.

    2009-01-01

    Analyses of the influence of solar activity on sporadic meteor counts based on visual and radar meteor observations present rather contradictory results, indicating a possible variation of the sporadic meteor counts with a solar activity, with the maximum in observed meteor rates occurring from zero up to about five years after the solar activity maximum. With this perspective, in the present paper observations of the sporadic meteor background, obtained by a forward-scatter radio system for meteor observation operating along the Bologna (Italy)-Modra (Slovakia) baseline in 1996-2007, are analysed and discussed. The activity curves of all echoes and their variations indicate a correlation with solar activity in the 23. solar cycle represented by the solar relative number R (corr. coef. 0.71), as well as with the solar coronal index C1 (corr. coef. 0.73). The mass distribution exponent s and its variations (with corr. coef. against R and C1, 0.12 and 0.25, respectively) does not show a correlation consistent with solar activity and, from the viewpoint of s, suggest the existence of a relatively stable population of sporadic background meteoroids in the surroundings of the Earth's orbit during the investigated period.

  3. Clinical characteristics of familial and sporadic age-related macular degeneration: differences and similarities

    NARCIS (Netherlands)

    Saksens, N.T.M.; Kersten, E.; Groenewoud, J.M.M.; Grinsven, M.J.J.P. van; Ven, J.P.H. van de; Sanchez, C.I.; Schick, T.; Fauser, S.; Hollander, A.I. den; Hoyng, C.B.; Boon, C.J.F.

    2014-01-01

    PURPOSE: We describe the differences and similarities in clinical characteristics and phenotype of familial and sporadic patients with age-related macular degeneration (AMD). METHODS: We evaluated data of 1828 AMD patients and 1715 controls enrolled in the European Genetic Database. All subjects

  4. KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

    NARCIS (Netherlands)

    Wijnen, Mark; Alders, Mariëlle; Zwaan, Christian M.; Wagner, Anja; van den Heuvel-Eibrink, Marry M.

    2012-01-01

    Pediatric adrenal tumors, other than neuroblastoma, are rare and can be associated with a genetic predisposition. In this report we describe two patients with an isolated and apparently sporadic adrenocortical tumor; one girl with a carcinoma, the other girl with an adenoma. In both patients genetic

  5. Hypersensitivity pneumonitis due to metal working fluids: Sporadic or under reported?

    Science.gov (United States)

    Gupta, Amit; Rosenman, Kenneth D

    2006-06-01

    in one case from exposures well below the National Institute of Occupational Safety and Health (NIOSH) recommended exposure limit (REL). The sporadic nature of reports of HP in relationship to MWF probably represents a combination of workplace changes that cause the disease and inadequate recognition and reporting of the disease when it does occur. Physician awareness of HP secondary to MWF and an effective medical surveillance program are necessary to better understanding the epidemiology and prevention of this disease.

  6. Inactivation of JNK2 as carcinogenic factor in colitis-associated and sporadic colorectal carcinogenesis.

    Science.gov (United States)

    Lessel, Wiebke; Silver, Andrew; Jechorek, Doerthe; Guenther, Thomas; Roehl, Friedrich-Wilhelm; Kalinski, Thomas; Roessner, Albert; Poehlmann-Nitsche, Angela

    2017-05-01

    We recently reported that dysregulated c-Jun N-terminal kinases (JNK) activity causes defective cell cycle checkpoint control, inducing neoplastic transformation in a cellular ulcerative colitis (UC) model. In the quiescent chronic phase of UC, p-p54 JNK was down-regulated and p-p46 JNK was up-regulated. Both were up-regulated in the acute phase. Consequently, increased p21WAF1 and γ-H2AX, two JNK-regulated proteins, induced cell cycle arrest. Their down-regulation led to checkpoint override, causing increased proliferation and undetected DNA damage in quiescent chronic phase, all characteristics of tumorigenesis. We investigated expression of p-JNK2, p-JNK1-3, p21WAF1, γ-H2AX and Ki67 by immunohistochemistry in cases of quiescent UC (QUC), active UC (AUC), UC-dysplasia and UC-related colorectal carcinoma (UC-CRC). Comparison was made to normal healthy colorectal mucosa, sporadic adenoma and colorectal carcinoma (CRC), diverticulitis and Crohns disease (CD). We found p-JNK2 up-regulation in AUC and its early down-regulation in UC-CRC and CRC carcinogenesis. With down-regulated p-JNK2, p21WAF1 was also decreased. Ki67 was inversely expressed, showing increased proliferation early in UC-CRC and CRC carcinogenesis. p-JNK1-3 was increased in AUC and QUC. Less increased γ-H2AX in UC-CRC compared to CRC gave evidence that colitis-triggered inflammation masks DNA damage, thus contributing to neoplastic transformation. We hypothesize that JNK-dependent cell cycle arrest is important in AUC, while chronic inflammation causes dysregulated JNK activity in quiescent phase that may contribute to checkpoint override, promoting UC carcinogenesis. We suggest restoring p-JNK2 expression as a novel therapeutic strategy to early prevent the development of UC-related cancer. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  7. BRCA promoter methylation in sporadic versus BRCA germline mutation-related breast cancers.

    Science.gov (United States)

    Vos, Shoko; Moelans, Cathy Beatrice; van Diest, Paul Joannes

    2017-05-31

    In breast cancer, BRCA promoter hypermethylation and BRCA germline mutations are said to occur together rarely, but this property has not yet been translated into a clinical test. Our aim in this study was to investigate the diagnostic value of BRCA1/2 methylation in distinguishing breast carcinomas of BRCA1 and BRCA2 germline mutation carriers from sporadic breast carcinomas using a recently developed BRCA methylation assay based on methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). MS-MLPAs were performed to assess BRCA1 and BRCA2 methylation in breast carcinoma tissues from 39 BRCA1 and 33 BRCA2 germline mutation carriers, 80 patients with sporadic breast cancer, and normal breast tissues from 5 BRCA1 and 4 BRCA2 mutation carriers and 5 nonmutation carriers. Methylation frequencies varied considerably between CpG sites across the BRCA1 and BRCA2 promoters. Some CpG sites were methylated more frequently in BRCA1/2-related than in sporadic carcinomas, whereas other CpG sites were methylated more frequently in sporadic carcinomas, with large variances in sensitivity and specificity as a consequence. The diagnostic value of BRCA promoter methylation analysis in distinguishing BRCA1/2-related from sporadic breast carcinomas seems to be considerably dependent on the targeted CpG sites. These findings are important for adequate use of BRCA methylation analysis as a prescreening tool for BRCA germline genetic testing or to identify BRCAness patients who may benefit from targeted therapies such as poly(adenosine diphosphate-ribose) polymerase inhibitors.

  8. Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

    LENUS (Irish Health Repository)

    Kimmich, Okka

    2012-02-01

    Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects <50 years of age; 22 subjects >50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige\\'s syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1\\/61 (2%) control subjects, 27\\/32 (84%) patients with adult-onset primary torsion dystonia and 32\\/73 (44%) unaffected relatives [siblings (20\\/36; 56%), offspring (11\\/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

  9. Characteristics of epidemic and sporadic strains of Acinetobacter baumannii isolated in Abu Dhabi hospitals.

    Science.gov (United States)

    Sonnevend, Agnes; Ghazawi, Akela; Al Munthari, Noura; Pitout, Martin; Hamadeh, Mohammad Baraa; Hashmey, Rayhan; Girgis, Safinaz Khaleel; Sheikh, Farrukh Amin; Al Haj, Mohamed; Nagelkerke, Nico; Pál, Tibor

    2013-04-01

    We compared the antibiotic susceptibility, clonal lineages and resistance genes of singleton Acinetobacter baumannii strains to those of isolates representing repeatedly encountered molecular types in five Abu Dhabi hospitals. One hundred and ten clinically relevant, non-repeat strains were typed by blaOXA-51-like allele sequencing and by PFGE, and selected isolates also by MLST. Resistance was assessed by MIC determinations and by disc diffusion. Genotyping was carried out by PCR, targeting 28 genes. The 80 epidemic strains belonged to worldwide lineages 1, 2 and 7, representing 11 pulsotypes and 9 genotypes, while the 30 sporadic isolates exhibited a high level of genetic variability and, with the exception of a small subgroup, were not associated with any recognized epidemic lineages. All epidemic subtypes carried the ISAba1-linked blaOXA-23 gene, and harboured the int, the blaPER and the armA genes significantly more frequently than their sporadic counterparts. They were all multi-drug resistant, including non-susceptibility to carbepenems, and were often extensively drug resistant, a phenomenon rarely seen among sporadic strains. Epidemic strains represented 78.8 % of intensive care unit isolates, causing more respiratory infections, while sporadic strains were more frequently isolated from wound and soft tissue infections. The study showed that among strains collected at the same time and from the same region, the very heterogeneous, sensitive sporadic strains, with the exception of a few non-susceptible singleton isolates, clearly differed from the highly resistant epidemic ones, which belonged to multiple pulsotypes and genotypes clustered into three worldwide clonal lineages carrying blaOXA-64, blaOXA-66 and blaOXA-69, respectively.

  10. A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.

    Directory of Open Access Journals (Sweden)

    Nasrine Bendjilali

    Full Text Available Brain arteriovenous malformations (BAVM are clusters of abnormal blood vessels, with shunting of blood from the arterial to venous circulation and a high risk of rupture and intracranial hemorrhage. Most BAVMs are sporadic, but also occur in patients with Hereditary Hemorrhagic Telangiectasia, a Mendelian disorder caused by mutations in genes in the transforming growth factor beta (TGFβ signaling pathway.To investigate whether copy number variations (CNVs contribute to risk of sporadic BAVM, we performed a genome-wide association study in 371 sporadic BAVM cases and 563 healthy controls, all Caucasian. Cases and controls were genotyped using the Affymetrix 6.0 array. CNVs were called using the PennCNV and Birdsuite algorithms and analyzed via segment-based and gene-based approaches. Common and rare CNVs were evaluated for association with BAVM.A CNV region on 1p36.13, containing the neuroblastoma breakpoint family, member 1 gene (NBPF1, was significantly enriched with duplications in BAVM cases compared to controls (P = 2.2×10(-9; NBPF1 was also significantly associated with BAVM in gene-based analysis using both PennCNV and Birdsuite. We experimentally validated the 1p36.13 duplication; however, the association did not replicate in an independent cohort of 184 sporadic BAVM cases and 182 controls (OR = 0.81, P = 0.8. Rare CNV analysis did not identify genes significantly associated with BAVM.We did not identify common CNVs associated with sporadic BAVM that replicated in an independent cohort. Replication in larger cohorts is required to elucidate the possible role of common or rare CNVs in BAVM pathogenesis.

  11. The epidemiological, clinical, and laboratory features of sporadic Creutzfeldt-Jakob disease patients in China: surveillance data from 2006 to 2010.

    Directory of Open Access Journals (Sweden)

    Chen Gao

    Full Text Available BACKGROUND: Creutzfeldt-Jakob disease (CJD is a rare, rapidly progressive fatal central nervous system disorder, which consists of three main catalogues: sporadic, familial, and iatrogenic CJD. METHODOLOGY/PRINCIPAL FINDINGS: In China, the surveillance for CJD started in 2006, covering 12 provincial Centers for Disease Control and Prevention (CDCs and 15 hospitals. From 2006 to 2010, 624 suspected patients were referred to China CJD surveillance. The epidemiological, clinical and laboratory features of sporadic CJD (sCJD were analysed. Both groups of probable and possible sCJD showed highest incidences in the population of 60 to 69 year-olds. The most common presenting symptoms were progressive dementia and mental-related symptoms (neurological symptoms including sleeping turbulence, depression, anxiety and stress. Among the four main clinical manifestations, myoclonus was more frequently observed in the probable sCJD patients. About 2/3 of probable sCJD cases showed positive 14-3-3 in CSF and/or periodic sharp wave complexes (PSWC in electroencephalography (EEG. The presence of myoclonus was significantly closely related with the appearance of PSWC in EEG. Polymorphisms of codon 129 in PRNP of the notified cases revealed a highly predominant M129M genotype in Han Chinese. Among 23 genetic human prion diseases, ten were D178N/M129M Fatal familial insomnia (FFI and five were T188K genetic CJD (gCJD, possibly indicating a special distribution of gCJD-related mutations in Han Chinese. CONCLUSION: From the period of 2006 to 2010, 261 patients were diagnosed as sCJD and 23 patients were diagnosed as genetic human prion diseases in China. The epidemiological, clinical and laboratory analysis data were consistent with the characteristics of sporadic CJD, which provide insight into the features of CJD in China.

  12. Cancer driver-passenger distinction via sporadic human and dog cancer comparison: a proof-of-principle study with colorectal cancer.

    Science.gov (United States)

    Tang, J; Li, Y; Lyon, K; Camps, J; Dalton, S; Ried, T; Zhao, S

    2014-02-13

    Herein we report a proof-of-principle study illustrating a novel dog-human comparison strategy that addresses a central aim of cancer research, namely cancer driver-passenger distinction. We previously demonstrated that sporadic canine colorectal cancers (CRCs) share similar molecular pathogenesis mechanisms as their human counterparts. In this study, we compared the genome-wide copy number abnormalities between 29 human and 10 canine sporadic CRCs. This led to the identification of 73 driver candidate genes (DCGs), altered in both species, and with 27 from the whole genome and 46 from dog-human genomic rearrangement breakpoint (GRB) regions, as well as 38 passenger candidate genes (PCGs), altered in humans only and located in GRB regions. We noted that DCGs significantly differ from PCGs in every analysis conducted to assess their cancer relevance and biological functions. Importantly, although PCGs are not enriched in any specific functions, DCGs possess significantly enhanced functionality closely associated with cell proliferation and death regulation, as well as with epithelial cell apicobasal polarity establishment/maintenance. These observations support the notion that, in sporadic CRCs of both species, cell polarity genes not only contribute in preventing cancer cell invasion and spreading, but also likely serve as tumor suppressors by modulating cell growth. This pilot study validates our novel strategy and has uncovered four new potential cell polarity and colorectal tumor suppressor genes (RASA3, NUPL1, DENND5A and AVL9). Expansion of this study would make more driver-passenger distinctions for cancers with large genomic amplifications or deletions, and address key questions regarding the relationship between cancer pathogenesis and epithelial cell polarity control in mammals.

  13. Natural history of high-grade cervical intraepithelial neoplasia : a review of prognostic biomarkers

    NARCIS (Netherlands)

    Koeneman, Margot M.; Kruitwagen, Roy F. P. M.; Nijman, Hans W.; Slangen, Brigitte F. M.; Van Gorp, Toon; Kruse, Arnold-Jan

    The natural history of high-grade cervical intraepithelial neoplasia (CIN) is largely unpredictable and current histopathological examination is unable to differentiate between lesions that will regress and those that will not. Therefore, most high-grade lesions are currently treated by surgical

  14. The negative association between a history of recurrent herpes labialis and cervical neoplasia

    NARCIS (Netherlands)

    Burger, M. P.; Wilterdink, J. B.

    1988-01-01

    We considered the possibility that herpetic recurrences and herpes virus associated neoplasia are mutually exclusive disorders because they are expressions of different herpes virus-host relationships. We assumed that the human body copes with orofacial and genital herpes infections in the same

  15. The Clinical and Laboratory Features of Plasma Cell NeoplasiaIn ...

    African Journals Online (AJOL)

    OBJECTIVE: To analyze the clinical and laboratory features of Multiple Myeloma at presentation in a tertiary centre in Port Harcourt, Southern Nigeria. METHODS: The medical records of all patients diagnosed for plasma cell neoplasia within a 10 year period at the University of Port Harcourt Teaching Hospital were ...

  16. Efficacy in treatment of subclinical cervical HPV infection without intraepithelial neoplasia: systematic review

    Directory of Open Access Journals (Sweden)

    Fábio Russomano

    2000-07-01

    Full Text Available CONTEXT: The treatment of the subclinical Human papillomavirus (HPV infection of the uterine cervix is controversial. OBJECTIVE: To assess the efficacy of any therapy for subclinical HPV infection of the cervix without intraepithelial neoplasia, via a search in the medical literature. METHOD: We performed a systematic review with a comprehensive reference search in Medline, LILACS, Excerpta Medica, AIDSLINE, Popline, Cochrane Library and other authors' reference lists to identify experimental studies of therapy for subclinical HPV infection without intraepithelial neoplasia of the uterine cervix. In order to identify unpublished studies, we also contacted experts in the area, clinical trial registries, pharmaceutical industries, government and research institutions. We also searched on the Internet and in the book-of-abstracts of some medical conferences. The studies identified were masked and selected by inclusion criteria to help ascertain their internal validity. The data about regression or progression of HPV infection were extracted from the studies included. RESULTS: We identified 67 studies related to the treatment of subclinical HPV infection without intraepithelial neoplasia of the uterine cervix. Only five clinical trials matched the inclusion criteria and none demonstrated significant differences between the experimental group and the control group concerning regression of HPV infection (with or without CIN I or progression to higher grades of CIN. CONCLUSION: The evidence we found in the medical literature regarding the efficacy of any therapy for subclinical HPV infection without intraepithelial neoplasia of the uterine cervix was unsatisfactory.

  17. Widespread activation of the DNA damage response in human pancreatic intraepithelial neoplasia

    NARCIS (Netherlands)

    Koorstra, Jan-Bart M.; Hong, Seung-Mo; Shi, Chanjuan; Meeker, Alan K.; Ryu, Ji Kon; Offerhaus, George Johan A.; Goggins, Michael G.; Hruban, Ralph H.; Maitra, Anirban

    2009-01-01

    Pancreatic intraepithelial neoplasia (PanIN) lesions are the most common non-invasive precursors of pancreatic adenocarcinoma. We postulated that accumulating DNA damage within the PanIN epithelium activates checkpoint mechanisms. Tissue microarrays were constructed from 81 surgically resected

  18. Computer-aided detection of early Barrett's neoplasia using volumetric laser endomicroscopy

    NARCIS (Netherlands)

    Swager, Anne-Fré; van der Sommen, Fons; Klomp, Sander R.; Zinger, Sveta; Meijer, Sybren L.; Schoon, Erik J.; Bergman, Jacques J. G. H. M.; de With, Peter H.; Curvers, Wouter L.

    2017-01-01

    Background and Aims: Volumetric laser endomicroscopy (VLE) is an advanced imaging system that provides a near-microscopic resolution scan of the esophageal wall layers up to 3-mm deep. VLE has the potential to improve detection of early neoplasia in Barrett's esophagus (BE). However, interpretation

  19. Risk of head-and-neck cancer following a diagnosis of severe cervical intraepithelial neoplasia

    DEFF Research Database (Denmark)

    Svahn, Malene F; Munk, C; Jensen, S M

    2016-01-01

    OBJECTIVE: Women with a history of cervical intraepithelial neoplasia grade 3 including adenocarcinoma in situ (CIN3/AIS) may be more prone to develop cancers of the ano-genital region and head-and-neck cancers. The current literature is, however, limited. METHODS: We established a nationwide...

  20. No Association of Blood Type O With Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1

    NARCIS (Netherlands)

    Nell, Sjoerd; van Leeuwaarde, Rachel S.; Pieterman, Carolina R. C.; de Laat, Joanne M.; Hermus, Ad R.; Dekkers, Olaf M.; de Herder, Wouter W.; van der Horst-Schrivers, Anouk N.; Drent, Madeleine L.; Bisschop, Peter H.; Havekes, Bas; Borel Rinkes, Inne H. M.; Vriens, Menno R.; Valk, Gerlof D.

    2015-01-01

    An association between ABO blood type and the development of cancer, in particular, pancreatic cancer, has been reported in the literature. An association between blood type O and neuroendocrine tumors in multiple endocrine neoplasia type 1 (MEN1) patients was recently suggested. Therefore, blood

  1. No Association of Blood Type O With Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1

    NARCIS (Netherlands)

    Nell, S.; Leeuwaarde, R.S. van; Pieterman, C.R.; Laat, J.M. de; Hermus, A.R.M.M.; Dekkers, O.M.; Herder, W.W. de; Horst-Schrivers, A.N. van der; Drent, M.L.; Bisschop, P.H.; Havekes, B.; Rinkes, I.H.; Vriens, M.R.; Valk, G.D.

    2015-01-01

    CONTEXT: An association between ABO blood type and the development of cancer, in particular, pancreatic cancer, has been reported in the literature. An association between blood type O and neuroendocrine tumors in multiple endocrine neoplasia type 1 (MEN1) patients was recently suggested. Therefore,

  2. No Association of Blood Type O With Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1

    NARCIS (Netherlands)

    Nell, Sjoerd; Van Leeuwaarde, Rachel S.; Pieterman, Carolina R. C.; de Laat, Joanne M.; Hermus, Ad R.; Dekkers, Olaf M.; de Herder, Wouter W.; van der Horst-Schrivers, Anouk N.; Drent, Madeleine L.; Bisschop, Peter H.; Havekes, Bas; Rinkes, Inne H. M. Borel; Vriens, Menno R.; Valk, Gerlof D.

    2015-01-01

    Context: An association between ABO blood type and the development of cancer, in particular, pancreatic cancer, has been reported in the literature. An association between blood type O and neuroendocrine tumors in multiple endocrine neoplasia type 1 (MEN1) patients was recently suggested. Therefore,

  3. Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a

    NARCIS (Netherlands)

    Kahraman, T; de Groot, JWB; Rouwe, C; Hofstra, RMW; Links, TP; Sijmons, RH; Plukker, JTM

    Aims: Germline mutated RET proto-oncogene, causing multiple endocrine neoplasia (MEN)-2a syndrome is the indication for prophylactic total thyroidectomy. Literature regarding the risk and the extent of early surgical intervention is scarce and the optimum age for surgery is still controversial. To

  4. Disturbed patterns of immunocompetent cells in usual-type vulvar intraepithelial neoplasia

    NARCIS (Netherlands)

    M. Seters, van (Manon); I. Beckmann (Ilse); C. Heijmans-Antonissen (Claudia); M. van Beurden (Marc); P.C. Ewing (Patricia); F.J. Zijlstra (Freek); T.J.M. Helmerhorst (Theo); A. Kleinjan (Alex)

    2008-01-01

    textabstractGenital infection with human papillomavirus (HPV) is usually transient, as the immune system is capable of eliminating the virus. When immunity "fails" and the infection persists, vulvar intraepithelial neoplasia (VIN) may develop. In this study, we examined the distribution of

  5. Disseminated medullary thyroid carcinoma despite early thyroid surgery in the multiple endocrine neoplasia-2A syndrome

    NARCIS (Netherlands)

    van Santen, H. M.; Aronson, D. C.; van Trotsenburg, A. S. P.; ten Kate, F. J. W.; van de Wetering, M. D.; Wiersinga, W. M.; de Vijlder, J. J. M.; Vulsma, T.

    2005-01-01

    A 5 1/2-year-old boy, with a family history of multiple endocrine neoplasia (MEN)-2A syndrome, was evaluated for presence of MEN-2A and medullary thyroid carcinoma (MTC). DNA diagnostics confirmed MEN-2A. Basal (360 ng/L) and pentagastrin stimulated (430 ng/L) calcitonin (CT) levels were slightly

  6. Adult Immunohistochemical Markers Fail to Detect Intratubular Germ Cell Neoplasia in Prepubertal Boys with Cryptorchidism

    DEFF Research Database (Denmark)

    Kvist, Kolja; Clasen-Linde, Erik; Cortes, Dina

    2013-01-01

    Intratubular germ cell neoplasia (ITGCN) is a precursor to testicular germ cell cancer. It is characterized by large germ cells with large nuclei with a hyperchromatic, coarse chromatin pattern, large prominent nucleoli and abundant pale cytoplasm. In prepubertal boys these cells are located both...

  7. GTPases Rho distribution in intraepithelial and invasive neoplasias of the uterine cervix.

    Science.gov (United States)

    Tibúrcio, M Gomes Salles; Pinheiro, N M; Carboni, S de Sales Costa Moreira; Rocha, L P; Adad, S J; Maluf, P J; Murta, E F Cândido; Crema, V O

    2014-01-01

    To evaluate the distribution of GTPases RhoA, RhoB, and Cdc42 in cervical intraepithelial neoplasias (CIN) and invasive neoplasias of the uterine cervix. samples of neoplastic lesions of the uterine cervix of 44 patients were classified in: CIN I (n = 10), CIN II (n = 10), CIN III (n = 09), and invasive carcinoma (n = 15). Antibodies anti-RhoA, anti-RhoB, and anti-Cdc42 were used and staining was classified as: negative, mild, moderate, and intense positive. When compared with dysplastic cells, superficial cells showed: higher expression of RhoB in CIN I (p = 0.0018), and lower expression of Cdc42 in CIN I (p = 0.0225). The authors observed higher expression of RhoA (p = 0.0002) and RhoB (p = 0.0046) in CIN dysplastic cells when compared with invasive carcinoma cells. GTPases Rho may be involved with the regulation of biological processes, important to the progression of cervical neoplasias. Probably, RhoA is important for maintenance of cell differentiation and RhoB protects cells from malignant cervical neoplasia.

  8. Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark

    DEFF Research Database (Denmark)

    Mathiesen, Jes Sloth; Kroustrup, Jens Peter; Vestergaard, Peter

    2017-01-01

    Extract: Multiple endocrine neoplasia 2B (MEN2B) is an autosomal dominant inherited cancer syndrome associating medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), ganglioneuromatosis of the aerodigestive tract and facial, ophthalmologic and skeletal abnormalities. MEN2B is caused by the M...

  9. Is microsatellite instability (MSI) associated with multiplicity in early stage gastric neoplasias?

    Science.gov (United States)

    Park, Hong Jun; Kim, Hyun-Soo; Kim, Jae Woo; Park, So Yeun; Kim, Bo Ra; Ryu, Ho Yoel; Lee, Il Young; Lee, Yong Kwan; Cho, Mee Yon

    2013-09-01

    The aim of this study was to investigate the relationship between microsatellite instability (MSI) and clinicopathologic features including multiplicity in early stage gastric neoplasias (ESGN). From November 2004 until September 2009, 372 patients with consecutive resected gastric neoplasias were retrospectively enrolled. The gastric neoplasias were composed of 117 advanced gastric cancers (AGCs) and 255 ESGNs including 31 gastric dysplasias (including low and high grade dysplasia) and 224 early gastric cancers (EGCs). Based on microsatellite markers, high MSI (MSI-H) was observed in 61 cases (16.4%) and low MSI (MSI-L) in 14 cases (3.8%) of 372 cases. There was a positive correlation between the presence of MSI-H and progression of gastric adenoma to gastric tumor. We compared ESGNs with microsatellite stable (MSS; 223 cases, 87.5%) and ESGNs with MSI-H (24 cases, 9.4%). The ESGNs with MSI-H were only associated with older age and female gender. There were no association with Helicobacter pylori infection, intestinal metaplasia, and distal location in contrast with EGCs with MSI-H. Furthermore, multiplicity of ESGNs was not associated with MSI status. The clinicopatholgic features of MSI-H phenotype were different according to the progression of gastric neoplasias from ESGNs to AGCs. ESGNs with MSI-H were only associated with old age, female sex. In addition ESGNs with MSI-H were not associated with an increased risk of multifocal tumors. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  10. Risk of cervical cancer after completed post-treatment follow-up of cervical intraepithelial neoplasia

    DEFF Research Database (Denmark)

    Rebolj, Matejka; Helmerhorst, Theo; Habbema, Dik

    2012-01-01

    To compare the risk of cervical cancer in women with histologically confirmed cervical intraepithelial neoplasia who returned to routine screening after having completed post-treatment follow-up with consecutive normal smear test results with women with a normal primary smear test result....

  11. Extent of high-grade prostatic intraepithelial neoplasia is not a ...

    African Journals Online (AJOL)

    Objective: High-grade prostatic intraepithelial neoplasia (PIN) is a well accepted pre-cursor of invasive prostate cancer. Most investigators agree that a diagnosis of high-grade PIN warrants repeat transrectal ultrasound guided biopsy. We set out to investigate risk factors for cancer among a modern cohort of men with ...

  12. Increased burden of treatment of cervical intraepithelial neoplasia: Denmark 1991 to 2007

    DEFF Research Database (Denmark)

    Barken, Sidsel Svennekjær; Rebolj, M; Lynge, Elsebeth

    2011-01-01

    Introduction: Since the introduction of cytological screening in Denmark in the late 1960s, the incidence of cervical cancer decreased from 40 to 14 per 100,000 due to treatment of screen-detected cervical intraepithelial neoplasia (CIN). However, some overtreatment is inevitable and its side...

  13. Surveillance using trimodal imaging endoscopy after endoscopic submucosal dissection for superficial gastric neoplasia

    Science.gov (United States)

    Imaeda, Hiroyuki; Hosoe, Naoki; Kashiwagi, Kazuhiro; Ida, Yosuke; Nakamura, Rieko; Suzuki, Hidekazu; Saito, Yoshimasa; Yahagi, Naohisa; Iwao, Yasushi; Kitagawa, Yuko; Hibi, Toshifumi; Ogata, Haruhiko; Kanai, Takanori

    2014-01-01

    AIM: To evaluate the effectiveness of trimodal imaging endoscopy (TME) to detect another lesion after endoscopic submucosal dissection (ESD) for superficial gastric neoplasia (SGN). METHODS: Surveillance esophagogastroduodenoscopy (EGD) using a TME was conducted in 182 patients that had undergone ESD for SGN. Autofluorescence imaging (AFI) was conducted after white-light imaging (WLI). When SGN was suspicious, magnifying endoscopy with narrow-band imaging (ME-NBI) was conducted. Final diagnoses were made by histopathologic findings of biopsy specimens. The detection rates of lesions in WLI, AFI, and NBI, and the characteristics of lesions detected by WLI and ones missed by WLI but detected by AFI were examined. The sensitivity, specificity, and accuracy of endoscopic diagnosis using WLI, AFI and ME-NBI were evaluated. RESULTS: In 242 surveillance EGDs, 27 lesions were determined pathologically to be neoplasias. Sixteen early gastric cancers and 6 gastric adenomas could be detected by WLI. Sixteen lesions were reddish and 6 were whitish. Five gastric neoplasias were missed by WLI but were detected by AFI, and all were whitish and protruded gastric adenomas. There was a significant difference in color and pathology between the two groups (P = 0.006). Sensitivity, specificity and accuracy in ME-NBI were higher than those in both WLI and AFI. Specificity and accuracy in AFI were lower than those in WLI. CONCLUSION: Surveillance using trimodal imaging endoscopy might be useful for detecting another lesion after endoscopic submucosal dissection for superficial gastric neoplasia. PMID:25473189

  14. A rare presentation of multiple endocrine neoplasia (MEN type 2A syndrome

    Directory of Open Access Journals (Sweden)

    Elroy Patrick Weledji

    2016-02-01

    Full Text Available Peptic ulcer disease may be a manifestation of symptomatic primary hyperparathyroidism. A case of an intractable complicated peptic ulcer disease secondary to hypercalcaemia from multiple endocrine neoplasia type 2A is presented. Hypercalcaemia should always be excluded as a cause of recurrent, or complicated peptic ulcer disease.

  15. Endometriose Simulando Neoplasia Vesical Endometriosis Simulating Bladder Cancer

    Directory of Open Access Journals (Sweden)

    Marcos Tobias-Machado

    2000-04-01

    Full Text Available Objetivo: o acometimento do trato urinário pela endometriose é raro e quando ocorre, a bexiga é o órgão mais freqüentemente afetado. Observamos que algumas pacientes têm sido encaminhadas com o diagnóstico clínico de neoplasia vesical. Em geral, a literatura mostra relatos isolados de casos, tornando difícil a padronização de condutas. Tivemos por objetivo apresentar nossa experiência, mostrando os principais aspectos diagnósticos e terapêuticos desta entidade clínica. Métodos: avaliamos retrospectivamente os casos com diagnóstico de endometriose vesical por meio do arquivo do Departamento de Patologia, fazendo revisão dos dados clínicos de prontuário e convocando as pacientes para seguimento ambulatorial após tratamento. Resultados: os principais sinais e sintomas apresentados pelas pacientes foram disúria cíclica, massa e dor pélvica crônica. O diagnóstico presuntivo foi realizado mediante ultra-sonografia (USG, tomografia computadorizada (TC de abdome, cistoscopia e laparoscopia. O diagnóstico definitivo com confirmação anátomo-patológica foi obtido pela ressecção endoscópica em 3 casos e biópsia laparoscópica em 1 caso. As opções terapêuticas foram o tratamento medicamentoso exclusivo e a ressecção da lesão empregando a via endoscópica ou cistectomia parcial, sempre complementados por tratamento clínico adjuvante. Conclusões: revisamos os principais aspectos clínicos e terapêuticos da endometriose do trato urinário, lembrando que esta representa um importante diagnóstico diferencial de tumor vesical em mulheres jovens na idade reprodutiva.Purpose: urinary tract involvement by endometriosis is uncommon and the bladder is the most common site. We observed that clinical misdiagnosis of bladder cancer frequently is made. Because the disease is generally described in case reports there is not a consensual management. We present and discuss our experience of diagnostic and therapeutic issues

  16. Can the Ni classification of vessels predict neoplasia? A systematic review and meta-analysis.

    Science.gov (United States)

    Mehlum, Camilla S; Rosenberg, Tine; Dyrvig, Anne-Kirstine; Groentved, Aagot Moeller; Kjaergaard, Thomas; Godballe, Christian

    2018-01-01

    The Ni classification of vascular change from 2011 is well documented for evaluating pharyngeal and laryngeal lesions, primarily focusing on cancer. In the planning of surgery it may be more relevant to differentiate neoplasia from non-neoplasia. We aimed to evaluate the ability of the Ni classification to predict laryngeal or hypopharyngeal neoplasia and to investigate if a changed cutoff value would support the recent European Laryngological Society (ELS) proposal of perpendicular vascular changes as indicative of neoplasia. PubMed, Embase, Cochrane, and Scopus databases. A systematic review and meta-analysis was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis statement. We systematically searched for publications from 2011 until 2016. All retrieved studies were reviewed and qualitatively assessed. The pooled sensitivity and specificity of the Ni classification with two different cutoffs were calculated, and bubble and summary receiver operating characteristics plots were created. The combined sensitivity of five studies (n = 687) with Ni type IV-V defined as test-positive was 0.89 (95% confidence interval [CI]: 0.76-0.95), and specificity was 0.82 (95% CI: 0.72-0.89). The equivalent combined sensitivity of four studies (n = 624) with Ni type V defined as test-positive was 0.82 (95% CI: 0.75-0.87), and specificity was 0.93 (95% CI: 0.82-0.97). The diagnostic accuracy of the Ni classification in predicting neoplasia was high, without significant difference between the two analyzed cutoff values. Implementation of the proposed ELS classification of vascular changes seems reasonable from a clinical perspective, with comparable accuracy. Attention must be drawn to the accompanying risk of exposing patients to unnecessary surgery. Laryngoscope, 128:168-176, 2018. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  17. The Heterogeneity Between Lynch-Associated and Sporadic MMR Deficiency in Colorectal Cancers.

    Science.gov (United States)

    Liu, Guo-Chen; Liu, Ran-Yi; Yan, Jun-Ping; An, Xin; Jiang, Wu; Ling, Yi-Hong; Chen, Jie-Wei; Bei, Jin-Xin; Zuo, Xiao-Yu; Cai, Mu-Yan; Liu, Ze-Xian; Zuo, Zhi-Xiang; Liu, Ji-Hong; Pan, Zhi-Zhong; Ding, Pei-Rong

    2018-02-20

    Previous studies demonstrated that prognosis of germline deficiency in mismatch repair protein (dMMR) was different from that of sporadic dMMR. The underlying mechanism has not been studied. From a prospectively maintained database, we collected dMMR colorectal cancer (CRC) patients identified by postoperative immunohistochemistry screening. According to genetic test, patients were grouped as Lynch-associated or sporadic dMMR. We compared the clinical-pathological features, prognosis, and immunoreactive differences between the two groups. By whole-exome sequencing and neoantigen detection pipeline, mutational frequencies and neoantigen burdens were also compared. All statistical tests were two-sided. Sixty-seven sporadic dMMR and 85 Lynch-associated CRC patients were included in the study. Sporadic dMMR patients were older (P < .001) and their tumors were poorly differentiated (P = .03). The survival was better in the Lynch-associated group (P = .001). After adjustment, the difference still remained statistically significant (hazard ratio = 0.29, 95% confidence interval = 0.09 to 0.95, P = .04). The scores of Crohn's-like reaction (CRO; P < .001), immunoreactions in the invasive margin (IM; P = .01), tumor stroma (TS; P = .009), and cancer nest (CN; P = .02) of the Lynch-associated group were statistically significantly higher. The numbers of CD3+, CD8+, Foxp3+ tumor-infiltrating lymphocytes (TILs) in IM; CD3+, CD4+ TILs in TS; and CD3+, CD4+, CD8+ TILs in CN were statistically significantly higher in Lynch-associated dMMR patients. Based on the 16 patients who under went whole-exome sequencing, there were also more somatic mutations and neoantigen burdens in the Lynch-associated group compared with the sporadic dMMR group (439/pt vs 68/pt, P = .006; 628/pt vs 97/pt, P = .009). There are heterogeneities in dMMR CRCs. Lynch-associated dMMR patients present with more somatic mutations and neoantigens compared with sporadic dMMR, which probably results in stronger

  18. The Warburg Hypothesis and the ATP Supply In Cancer Cells Is Oxidative Phosphorylation impaired in malignant neoplasias?

    Science.gov (United States)

    Rodríguez-Enríquez, Sara; Gallardo-Pérez, Juan Carlos; Marín-Hernández, Alvaro; Moreno-Sánchez, Rafael

    2012-06-01

    Since Warburg proposed that cancer cells exhibit increased glycolysis due to apparent mitochondrial damage, numerous researchers have assumed that glycolysis is the predominant ATP supplier for cancer cell energy-dependent processes. However, chemotherapeutic strategies using glycolytic inhibitors have been unsuccessful in arresting tumor proliferation indicating that the original Warburg proposal may not be applicable to all existing neoplasias. This review analyzes recent information on mitochondrial metabolism in several malignant neoplasias emphasizing that, although tumor cells maintain a high glycolytic rate, the principal ATP production may derive from active oxidative phosphorylation. Thus, anti-mitochondrial drug therapy may be an adequate strategy to arrest proliferation of oxidative phosphorylation-dependent neoplasias.

  19. Primary Hyperparathyroidism in Young People. When Should We Perform Genetic Testing for Multiple Endocrine Neoplasia 1 (MEN-1)?

    DEFF Research Database (Denmark)

    Lassen, Tina Harmer; Friis-Hansen, Lennart Jan; Rasmussen, Åse Krogh

    2014-01-01

    CONTEXT: Multiple endocrine neoplasia (MEN-1) is a rare, autosomal dominant inherited disorder. Primary hyperparathyroidism (pHPT) is the most frequent and usually the earliest expression of MEN-1, with typical age of onset at 20-25 years. Early detection of the disease and correct treatment...... endocrine neoplasia 1 OR multiple endocrine neoplasia type 1 AND Mutational analysis OR genetic testing OR testing OR Hyperparathyroidism, primary [majr]. A total of 625 abstracts were reviewed. RESULTS AND DISCUSSION: Whether to perform screening of patients with pHPT under the age of 30, 35, or 40 years...

  20. Cervical intra-epithelial neoplasia and invasive cervical cancer in ...

    African Journals Online (AJOL)

    cancer in black and white patients. J. T. NEL, L. DE LANGE, P. J. MEIRING ... cervical cancer. This serious yet preventable disease is still very prevalent in South Africa, especially among black women. S AIr Med J 1994; 84: 18-19. Aanalysis of rime trends in .... therapy in users of oral contraceptives. Am J Clill Nucr 1982; 35:.

  1. Plasma proteome analysis of cervical intraepithelial neoplasia and ...

    Indian Academy of Sciences (India)

    Prakash

    Although cervical cancer is preventable with early detection, it remains the second most common malignancy among women. An understanding of how proteins change in their expression during a particular diseased state such as cervical cancer will contribute to an understanding of how the disease develops and ...

  2. Immunohistochemistry for annexin A10 can distinguish sporadic from Lynch syndrome-associated microsatellite-unstable colorectal carcinoma.

    Science.gov (United States)

    Pai, Reetesh K; Shadrach, Bonnie L; Carver, Paula; Heald, Brandie; Moline, Jessica; Church, James; Kalady, Matthew F; Burke, Carol A; Plesec, Thomas P; Lai, Keith K; Gonzalo, David H; Pai, Rish K

    2014-04-01

    Differentiating sporadic microsatellite-unstable colorectal carcinoma due to MLH1 promoter hypermethylation from Lynch syndrome (LS)-associated tumors due to mutations in mismatch-repair proteins is time consuming, cost intensive, and requires advanced laboratory testing. A mutation in BRAF has been shown to be highly specific for sporadic tumors; however, a significant proportion of sporadic microsatellite-unstable tumors lack BRAF mutations. MLH1 promoter methylation analysis is subsequently used to differentiate LS and sporadic tumors, but both tests require specialized laboratories and are costly. Through previous gene expression profiling of serrated polyps, we identified annexin A10 as a protein highly expressed in sessile serrated adenomas/polyps. As these polyps give rise to the majority of sporadic microsatellite-unstable tumors, we evaluated the ability of annexin A10 expression to discriminate between LS and sporadic tumors. A marked increase in annexin A10 mRNA was observed in sporadic microsatellite-unstable tumors compared with LS tumors (378-fold increase, Pimmunohistochemistry, annexin A10 was expressed in 23/53 (43%) BRAF-mutated and 9/22 (41%) BRAF wild-type sporadic tumors. In contrast, only 3/56 (5%) LS tumors were positive for annexin A10 (Pimmunohistochemistry. Only 1/28 (4%) LS tumors with loss of MLH1 was positive for annexin A10. This patient did not have a deleterious MLH1 mutation but rather germline promoter hypermethylation of MLH1. On the basis of these results, immunohistochemistry for annexin A10 may be a useful marker to distinguish sporadic from LS-associated microsatellite-unstable colon cancer.

  3. Aspirin in the Chemoprevention of Colorectal Neoplasia: An Overview

    Science.gov (United States)

    Chan, Andrew T.; Arber, Nadir; Burn, John; Chia, John Whay-Kuang; Elwood, Peter; Hull, Mark A.; Logan, Richard F.; Rothwell, Peter M.; Schrör, Karsten; Baron, John A.

    2011-01-01

    Considerable evidence supports the effectiveness of aspirin for chemoprevention of colorectal cancer (CRC) in addition to its well-established benefits in the prevention of vascular disease. Epidemiologic studies have consistently observed an inverse association between aspirin use and risk of CRC. A recent pooled analysis of a long-term post-trial follow-up of nearly 14,000 patients from 4 randomized, cardiovascular disease prevention trials showed that daily aspirin treatment for about 5 years was associated with a 34% reduction in 20-year CRC mortality. A separate meta-analysis of nearly 3,000 patients with a history of colorectal adenoma or cancer in 4 randomized adenoma prevention trials demonstrated that aspirin reduced the occurrence of advanced adenomas by 28% and any adenoma by 17%. Aspirin has also been shown to be beneficial in a clinical trial of patients with Lynch syndrome, a hereditary CRC syndrome; in those treated with aspirin for at least 2 years, there was a ≥ 50% reduction in the risk of CRC commencing 5 years after randomization and after aspirin had been discontinued. A few observational studies have shown an increase in survival among patients with CRC who use aspirin. Taken together, these findings strengthen the case for consideration of long-term aspirin use in CRC prevention. Despite these compelling data, there is a lack of consensus about the balance of risks and benefits associated with long-term aspirin use, particularly in low-risk populations. The optimal dose to use for cancer prevention and the precise mechanism underlying aspirin’s anticancer effect require further investigation. PMID:22084361

  4. Risk of transmission of sporadic Creutzfeldt-Jakob disease by surgical procedures: systematic reviews and quality of evidence.

    Science.gov (United States)

    López, Fernando J García; Ruiz-Tovar, María; Almazán-Isla, Javier; Alcalde-Cabero, Enrique; Calero, Miguel; de Pedro-Cuesta, Jesús

    2017-10-01

    Sporadic Creutzfeldt-Jakob disease (sCJD) is potentially transmissible to humans. This study aimed to summarise and rate the quality of the evidence of the association between surgery and sCJD. Firstly, we conducted systematic reviews and meta-analyses of case-control studies with major surgical procedures as exposures under study. To assess quality of evidence, we used the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) approach. Secondly, we conducted a systematic review of sCJD case reports after sharing neurosurgical instruments. Thirteen case-control studies met the inclusion criteria for the systematic review of case-control studies. sCJD was positively associated with heart surgery, heart and vascular surgery and eye surgery, negatively associated with tonsillectomy and appendectomy, and not associated with neurosurgery or unspecified major surgery. The overall quality of evidence was rated as very low. A single case-control study with a low risk of bias found a strong association between surgery conducted more than 20 years before disease onset and sCJD. Seven cases were described as potentially transmitted by reused neurosurgical instruments. The association between surgery and sCJD remains uncertain. Measures currently recommended for preventing sCJD transmission should be strongly maintained. Future studies should focus on the potential association between sCJD and surgery undergone a long time previously.

  5. [Perioperative considerations for performing a brain biopsy on a patient with subtype VV2 sporadic Creutzfeldt-Jakob disease].

    Science.gov (United States)

    Guerrero-Domínguez, R; Rubio-Romero, R; González-González, G; Jiménez, I

    2015-04-01

    Creutzfeldt-Jakob disease (CJD) is the most common transmissible spongiform encephalopathy. It is an infectious, progressive, degenerative neurological disorder, with a presumably long incubation period, but a rapid fatal course. CJD is transmitted by a proteinaceous infectious agent, or «prion». Because the prions are difficult to eradicate and are resistant to the currently used sterilization methods, special precautions must be taken with all surgical instruments. It is recommended the single-use equipment, destruction of contaminated equipment, decontamination of reusable instruments, use of protective clothing, and storing and quarantining surgical instruments. The single-use equipment and some tissues and body fluids from the patient with CJD are highly infectious and must be incinerated. We report a case of a patient who had undergone brain biopsy for suspected of CJD, being confirmed to have sporadic CJD. Specific preventive measures were taken to reduce the risk of transmission to healthcare workers. Copyright © 2014 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. RET proto oncogene mutation detection and medullary thyroid carcinoma prevention.

    Science.gov (United States)

    Yeganeh, Marjan Zarif; Sheikholeslami, Sara; Hedayati, Mehdi

    2015-01-01

    Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%) and sporadic (75%) forms. Hereditary MTC has syndromic (multiple endocrine neoplasia type 2A, B; MEN2A, MEN2B) and non-syndromic (Familial MTC, FMTC) types. Over the last two decades, elucidation of the genetic basis of tumorigenesis has provided useful screening tools for affected families. Advances in genetic screening of the RET have enabled early detection of hereditary MTCs and prophylactic thyroidectomy for relatives who may not show any symptom sof the disease. In this review we emphasize the main RET mutations in syndromic and non syndromic forms of MTC, and focus on the importance of RET genetic screening for early diagnosis and management of MTC patients, based on American Thyroid Association guidelines and genotype-phenotype correlation.

  7. MRI in sporadic Creutzfeldt-Jakob disease: Correlation with clinical and neuropathological data

    Energy Technology Data Exchange (ETDEWEB)

    Urbach, H.; Solymosi, L. [Department of Neuroradiology, University of Wuerzburg (Germany); Klisch, J.; Brechtelsbauer, D. [Department of Neuroradiology, University of Bonn, Bonn (Germany); Wolf, H.K. [Department of Neuropathology, University of Bonn, Bonn (Germany); Gass, S. [Department of Neurology, University of Bonn, Bonn (Germany)

    1998-02-01

    To ascertain whether increased grey matter signal intensity on T2-weighted images in patients with sporadic Creutzfeldt-Jakob disease (CJD) corresponds to the stage and severity of this disease, we correlated MRI findings in four of our own and previously reported patients with sporadic CJD with the clinical variants, neuropathological changes at autopsy, duration of the disease and survival time after MRI examination. Of 15 patients with the extrapyramidal type of CJD, 10 showed increased signal in the basal ganglia on T2-weighted images. One of seven patients with the Heidenhain variant had increased signal in the occipital cortex. Patients without increased grey matter signal intensity had a longer overall duration of CJD (P = 0.035). Although the interval between onset of neurological symptoms and MRI was not different, patients without increased grey matter signal also survived longer after MRI examination (P = 0.022). (orig.) With 5 figs., 2 tabs., 23 refs.

  8. MRI in sporadic Creutzfeldt-Jakob disease: Correlation with clinical and neuropathological data

    International Nuclear Information System (INIS)

    Urbach, H.; Solymosi, L.; Klisch, J.; Brechtelsbauer, D.; Wolf, H.K.; Gass, S.

    1998-01-01

    To ascertain whether increased grey matter signal intensity on T2-weighted images in patients with sporadic Creutzfeldt-Jakob disease (CJD) corresponds to the stage and severity of this disease, we correlated MRI findings in four of our own and previously reported patients with sporadic CJD with the clinical variants, neuropathological changes at autopsy, duration of the disease and survival time after MRI examination. Of 15 patients with the extrapyramidal type of CJD, 10 showed increased signal in the basal ganglia on T2-weighted images. One of seven patients with the Heidenhain variant had increased signal in the occipital cortex. Patients without increased grey matter signal intensity had a longer overall duration of CJD (P = 0.035). Although the interval between onset of neurological symptoms and MRI was not different, patients without increased grey matter signal also survived longer after MRI examination (P = 0.022). (orig.)

  9. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients

    Directory of Open Access Journals (Sweden)

    Hanae Takatsuki, PhD

    2016-10-01

    Full Text Available Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 106/g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 106/g SD50 did not exist the infectivity.

  10. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients.

    Science.gov (United States)

    Takatsuki, Hanae; Fuse, Takayuki; Nakagaki, Takehiro; Mori, Tsuyoshi; Mihara, Ban; Takao, Masaki; Iwasaki, Yasushi; Yoshida, Mari; Murayama, Shigeo; Atarashi, Ryuichiro; Nishida, Noriyuki; Satoh, Katsuya

    2016-10-01

    Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 10 6 /g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 10 6 /g SD50 did not exist the infectivity. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  11. CHCH10 mutations in an Italian cohort of familial and sporadic ALS patients

    Science.gov (United States)

    Chiò, Adriano; Mora, Gabriele; Sabatelli, Mario; Caponnetto, Claudia; Traynor, Bryan J.; Johnson, Janel O.; Nalls, Mike A.; Calvo, Andrea; Moglia, Cristina; Borghero, Giuseppe; Monsurrò, Maria Rosaria; La Bella, Vincenzo; Volanti, Paolo; Simone, Isabella; Salvi, Fabrizio; Logullo, Francesco O.; Nilo, Riva; Battistini, Stefania; Mandrioli, Jessica; Tanel, Raffaella; Murru, Maria Rita; Mandich, Paola; Zollino, Marcella; Conforti, Francesca L.; Brunetti, Maura; Barberis, Marco; Restagno, Gabriella; Penco, Silvana; Lunetta, Christian

    2015-01-01

    Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) co-morbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n = 64) and apparently sporadic ALS (n = 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in two unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHCHD10 mutations account for ∼1% of Italian ALS patients and are a cause of disease in subject without dementia or other atypical clinical signs. PMID:25726362

  12. Data on inflammasome gene polymorphisms of patients with sporadic malignant melanoma in a Brazilian cohort

    Directory of Open Access Journals (Sweden)

    Wanessa Cardoso da Silva

    2017-02-01

    Full Text Available This article presents data related to our another article entitled, Genotyping and differential expression analysis of inflammasome genes in sporadic malignant melanoma reveal novel contribution of CARD8, IL1B and IL18 in melanoma susceptibility and progression (W.C. Silva, T.M. Oshiro, D.C. Sá, D.D.G.S. Franco, C. Festa Neto, A. Pontillo, 2016 [2]. Data presented here refers to the distribution of selected inflammasome SNPs in a Brazilian case/control cohort. We have identified 4 inflammasome related Single Nucleotide Polymorphisms (SNPs for CARD8 (rs6509365; IL1B (rs1143643 and IL18 (rs5744256 and rs1834481 related to melanoma susceptibility/protection. This data can serve as a potential prognostic marker in sporadic malignant melanoma.

  13. Source attribution of human salmonellosis and campylobacteriosos using a systematic review of studies of sporadic infections

    DEFF Research Database (Denmark)

    Coutinho Calado Domingues, Ana Rita; Pires, Sara Monteiro; Hald, Tine

    . Identifying the most important sources of human disease is essential for prioritizing food safety interventions and setting public health goals. Numerous case-control studies of sporadic infections of salmonellosis and campylobacteriosis have been published. These studies investigate a variety of potential...... or statistical analysis of data, and conclusions. With the objective of identifying the most important risk factors for human sporadic salmonellosis and campylobacteriosis, we performed a SR of case-control studies and meta-analysis of the obtained results. From 1,295 identified references, 132 passed...... the relevance screening, 73 passed the quality assessment stage, and data was extracted from 72. Of these studies, 34 investigated risk factors for human salmonellosis and 37 focused on campylobacteriosis. Heterogeneity between the studies and possible sources of bias were assessed. Information on exposures...

  14. Sporadic sodium and E layers observed during the summer 2002 MaCWAVE/MIDAS rocket campaign

    Directory of Open Access Journals (Sweden)

    B. P. Williams

    2006-07-01

    Full Text Available On 5 July 2002, a MaCWAVE (Mountain and Convective Waves Ascending VErtically payload launched from Andøya Rocket Range, Norway, observed narrow enhanced layers of electron density that were nearly coincident with sporadic sodium layers measured by the Weber sodium lidar at the nearby ALOMAR Observatory. We investigate the formation mechanism of these layers using the neutral wind and temperature profiles measured directly by the lidar and the vertical motion deduced from the sodium mixing ratio. Through comparisons of the lidar data to the sporadic E in situ data, we find support for the concentration and downward motion of ions to an altitude where chemical models predict the rapid conversion of sodium ions to neutral sodium.

  15. Post-and prenatal testing for FSHD: Diagnostic approach for sporadic and familial cases

    Energy Technology Data Exchange (ETDEWEB)

    Bakker, E.; Wielen, M.J.R. van der; Losekoot, M. [Leiden Univ. (Netherlands)] [and others

    1994-09-01

    Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder. A major locus for FSHD was localized at the distal part of chromosome 4q. More recently, a disease associated DNA rearrangement was detected with the polymorphic probe p13E-11 (D4F104S1). In most FSHD patients, a shortened (< 28 kb instead of 50-300 kb) allele was detected. In sporadic patients a de novo deletion was found to be associated with the occurrence of FSHD. Diagnostically there were a number of problems to overcome. (1) About 5% of families show no linkage to chromosome 4q35. (2) Some 10% normal individuals show a shortened p13E11 allele, which is located at chromosome 10q. Our diagnostic strategy is as follows: If in sporadic patients a shortened p13E-11 allele is detected and neither parent shows this allele, then a de novo deletion has occurred and FSHD is proven. If no shortened allele is detected FSHD is less likely. In case one of the parents shows a shortened allele then clinical investigations and linkage studies are performed for both chromosome 4 and 10 markers. In familial cases both p13E-11 and polymorphic markers are tested. A shortened p13E-11 allele and/or chromosome 4 haplotype segregating with FSHD can be used for presymptomatic and prenatal diagnosis. Up to now, 45 sporadic cases and 21 families were referred for diagnosis. In 22 sporadic cases a shortened allele was detected, 13 were proven de novo. The first prenatal test was recently performed. The index patient was a de novo case with a shortened allele; the fetus had inherited this allele.

  16. BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.

    Directory of Open Access Journals (Sweden)

    Ainur R. Akilzhanova

    2013-05-01

    Full Text Available Background: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women. Aim: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer. Methods: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing. Results: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05; higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations. Conclusions: Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation. 

  17. Association of apolipoprotein E allele {epsilon}4 with late-onset sporadic Alzheimer`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Lucotte, G.; David, F.; Berriche, S. [Regional Center of Neurogenetics, Reims (France)] [and others

    1994-09-15

    Apolipoprotein E, type {epsilon}4 allele (ApoE {epsilon}4), is associated with late-onset sporadic Alzheimer`s disease (AD) in French patients. The association is highly significant (0.45 AD versus 0.12 controls for {epsilon}4 allele frequencies). These data support the involvement of ApoE {epsilon}4 allele as a very important risk factor for the clinical expression of AD. 22 refs., 1 fig., 3 tabs.

  18. High-risk population in sporadic pancreatic adenocarcinoma: guidelines for screening.

    Science.gov (United States)

    Bruenderman, Elizabeth H; Martin, Robert C G

    2015-03-01

    Pancreatic cancer (PC) is one of the most deadly forms of cancer in the United States, with an annual incidence to death ratio of 0.92 because of the late stage at diagnosis. Identification of high-risk individuals (HRIs) that would be ideal for screening is needed to identify precursor lesions and small early stage disease. Those with a genetic predisposition have largely been identified, but little is known about those at high-risk for sporadic PC. This study asserts that a high-risk population does exist in sporadic pancreatic adenocarcinoma and proposes simple guidelines for screening. A systematic review was conducted of the literature regarding identification of and screening in high-risk groups. Those with the highest genetic risk of developing PC include those with hereditary pancreatitis (87 times more likely at age 55), Peutz-Jehgers syndrome (132 times more likely at age 50), p16-Leiden mutations (48 times more likely), and familial pancreatic cancer (FPC) kindreds (32 times more likely). Those with the highest risk of developing sporadic PC include those with new-onset diabetes older than 50 y and smoking history. Given that sporadic PC is the single largest patient population effected with this devastating disease, some form of screening should be initiated. Currently, the medical community does nothing to attempt early detection of PC. However, sufficient evidence now exists to begin a screening protocol in a high-risk cohort, which would be patients with new-onset diabetes older than 50 y and a smoking history. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. Earth's influx of different populations of sporadic meteoroids from photographic and television data

    International Nuclear Information System (INIS)

    Ceplecha, Z.

    1988-01-01

    Precise photographic and television double- and multi-station data on 3624 sporadic meteors in the mass range from 2 x 10 -5 grams to 2 x 10 7 grams form the basis of this paper. The applied classification criteria and procedures are defined and described. A survey of 7 different populations of sporadic meteoroids known so far is presented. The total numbers and masses of meteoroids as a function of mass are given for individual groups and for all sporadic meteors. The absolute calibration of the influx to the Earth was carried out by comparison with the results of Halliday et al. (1984). The comparison with the visual and cratering data revealed good agreement in the narrow ''visual'' interval of masses, and disagreement in the extrapolated parts of the visual and cratering flux curves. The slope of the cumulative number curve for the meteorite-dropping fireballs (type I) with masses larger than 1 kg was found as -0.69 in perfect agreement with the results of Halliday et al. (1984). The final mass scale derived in this paper is situated between the scale of McCrosky and the scale of Halliday. The relative significance of the different groups of meteoroids changes with the mass quite dramatically. The total influx of sporadic meteoroids in the mass interval of 12 orders from 2 x 10 7 to 2 x 10 -5 grams resulted in 5 x 10 9 grams per year for the entire Earth's surface. Most of this mass comes in the form of larger meteoroids. Bulk densities and ablation coefficient are presented for the individual meteor groups depending on different ablation models of several authors and some extreme concepts of this problem are discussed. (author). 3 figs., 6 tabs., 38 refs

  20. Height and critical frequency variations of the sporadic-E layer at midlatitudes

    Czech Academy of Sciences Publication Activity Database

    Šauli, Petra; Bourdillon, A.

    2008-01-01

    Roč. 70, č. 15 (2008), s. 1904-1910 ISSN 1364-6826 R&D Projects: GA AV ČR IAA300420704 Grant - others:European Union(XE) COST 296 Institutional research plan: CEZ:AV0Z30420517 Keywords : Sporadic E * Planetary waves * Tidal waves * Mid-latitude ionosphere * Wavelet transform Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 1.667, year: 2008

  1. Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas

    Science.gov (United States)

    Moura, M M; Cavaco, B M; Pinto, A E; Domingues, R; Santos, J R; Cid, M O; Bugalho, M J; Leite, V

    2009-01-01

    Screening of REarranged during Transfection (RET) gene mutations has been carried out in different series of sporadic medullary thyroid carcinomas (MTC). RET-positive tumours seem to be associated to a worse clinical outcome. However, the correlation between the type of RET mutation and the patients' clinicopathological data has not been evaluated yet. We analysed RET exons 5, 8, 10–16 in fifty-one sporadic MTC, and found somatic mutations in thirty-three (64.7%) tumours. Among the RET-positive cases, exon 16 was the most frequently affected (60.6%). Two novel somatic mutations (Cys630Gly, c.1881del18) were identified. MTC patients were divided into three groups: group 1, with mutations in RET exons 15 and 16; group 2, with other RET mutations; group 3, having no RET mutations. Group 1 had higher prevalence (P=0.0051) and number of lymph node metastases (P=0.0017), and presented more often multifocal tumours (P=0.037) and persistent disease at last control (P=0.0242) than group 2. Detectable serum calcitonin levels at last screening (P=0.0119) and stage IV disease (P=0.0145) were more frequent in group 1, than in the other groups. Our results suggest that, among the sporadic MTC, cases with RET mutations in exons 15 and 16 are associated with the worst prognosis. Cases with other RET mutations have the most indolent course, and those with no RET mutations have an intermediate risk. PMID:19401695

  2. Down-regulation of BRCA1 in chronic pancreatitis and sporadic pancreatic adenocarcinoma.

    Science.gov (United States)

    Beger, Carmela; Ramadani, Marco; Meyer, Stephan; Leder, Gerd; Krüger, Martin; Welte, Karl; Gansauge, Frank; Beger, Hans G

    2004-06-01

    BRCA1 and BRCA2 are considered to be breast cancer susceptibility genes that may also contribute to pancreatic cancer development because family studies revealed mutation carriers to have an increased risk of developing pancreatic cancer. However, as demonstrated for breast and ovarian cancer, inactivation of BRCA in sporadic diseases is based on alteration in gene expression or functional alteration. To study a potential correlation of BRCA1 and BRCA2 to chronic pancreatitis and development of sporadic pancreatic adenocarcinoma, we have analyzed the expression of these genes by quantitative PCR and performed immunohistochemical analyses in normal pancreatic tissues, chronic pancreatitis, and pancreatic cancer specimens. BRCA1 expression was down-regulated in chronic alcoholic pancreatitis, in particular on the RNA level. Furthermore, our data indicate suppressed BRCA1 expression in pancreatic cancer on both the RNA and protein levels. Quantitative analysis of BRCA1 protein expression demonstrated regular staining in 50% of tumor specimens tested and reduced staining in 50% of tumor specimens tested. Correlation with the clinical outcome revealed a significantly better 1-year overall survival for patients with BRCA1-regular as compared with BRCA1-reduced or BRCA1-absent tumors. In contrast, no substantial differences in BRCA2 expression were found in chronic pancreatitis and pancreatic cancer samples. Our data demonstrate alteration of BRCA1 expression in chronic pancreatitis and sporadic pancreatic adenocarcinoma. We, for the first time, provide evidence for a role of BRCA1 in pancreatic carcinogenesis of noninherited tumors and for clinical outcome.

  3. Measuring sporadic gastrointestinal illness associated with drinking water - an overview of methodologies.

    Science.gov (United States)

    Bylund, John; Toljander, Jonas; Lysén, Maria; Rasti, Niloofar; Engqvist, Jannes; Simonsson, Magnus

    2017-06-01

    There is an increasing awareness that drinking water contributes to sporadic gastrointestinal illness (GI) in high income countries of the northern hemisphere. A literature search was conducted in order to review: (1) methods used for investigating the effects of public drinking water on GI; (2) evidence of possible dose-response relationship between sporadic GI and drinking water consumption; and (3) association between sporadic GI and factors affecting drinking water quality. Seventy-four articles were selected, key findings and information gaps were identified. In-home intervention studies have only been conducted in areas using surface water sources and intervention studies in communities supplied by ground water are therefore needed. Community-wide intervention studies may constitute a cost-effective alternative to in-home intervention studies. Proxy data that correlate with GI in the community can be used for detecting changes in the incidence of GI. Proxy data can, however, not be used for measuring the prevalence of illness. Local conditions affecting water safety may vary greatly, making direct comparisons between studies difficult unless sufficient knowledge about these conditions is acquired. Drinking water in high-income countries contributes to endemic levels of GI and there are public health benefits for further improvements of drinking water safety.

  4. Sporadic nesting reveals long distance colonisation in the philopatric loggerhead sea turtle (Caretta caretta).

    Science.gov (United States)

    Carreras, Carlos; Pascual, Marta; Tomás, Jesús; Marco, Adolfo; Hochscheid, Sandra; Castillo, Juan José; Gozalbes, Patricia; Parga, Mariluz; Piovano, Susanna; Cardona, Luis

    2018-01-23

    The colonisation of new suitable habitats is crucial for species survival at evolutionary scale under changing environmental conditions. However, colonisation potential may be limited by philopatry that facilitates exploiting successful habitats across generations. We examine the mechanisms of long distance dispersal of the philopatric loggerhead sea turtle (Caretta caretta) by analysing 40 sporadic nesting events in the western Mediterranean. The analysis of a fragment of the mitochondrial DNA and 7 microsatellites of 121 samples from 18 of these nesting events revealed that these nests were colonising events associated with juveniles from distant populations feeding in nearby foraging grounds. Considering the temperature-dependent sex determination of the species, we simulated the effect of the incubation temperature and propagule pressure on a potential colonisation scenario. Our results indicated that colonisation will succeed if warm temperature conditions, already existing in some of the beaches in the area, extend to the whole western Mediterranean. We hypothesize that the sporadic nesting events in developmental foraging grounds may be a mechanism to overcome philopatry limitations thus increasing the dispersal capabilities of the species and the adaptability to changing environments. Sporadic nesting in the western Mediterranean can be viewed as potential new populations in a scenario of rising temperatures.

  5. Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.

    Science.gov (United States)

    Verma, Anshuman; Das, Manoranjan; Srinivasan, Muthiah; Prajna, Namperumalsamy V; Sundaresan, Periasamy

    2013-03-18

    The involvement of VSX1 gene for the genetic basis of keratoconus is unclear and controversial. The genetic screening of VSX1 from different ethnic populations can enlighten this subject. The aim of the present study is to investigate the role of VSX1 gene in patients with sporadic cases of keratoconus from South India. The VSX1 gene coding regions, including exon-intron boundaries were screened by direct sequencing analysis in 117 sporadic cases of keratoconus. The identified variations were also analyzed in 108 ethnic matched healthy blood donors. In the VSX1 gene screening, no pathogenic mutation was identified, whereas we could find the presence of four reported single nucleotide polymorphisms; c.546A>G (rs12480307), c.627+23G>A (rs6138482), c.627+84T>A (rs56157240) and c.504-24C>T (IVS3-24C). These variations were observed in similar frequency between cases and controls. The lack of VSX1 pathogenic variations in a large number of unrelated sporadic keratoconus patients tend to omit its role, and corroborate the involvement of other genetic, environmental or behavioural factors in the development of this complex disorder.

  6. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

    Science.gov (United States)

    Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M; Boesch, Sylvia; Eigentler, Andreas; van de Warrenburg, Bart; van Gaalen, Judith; Kamm, Christoph; Dudesek, Ales; Kang, Jun-Suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Tezenas du Montcel, Sophie; Klockgether, Thomas

    2017-09-05

    To define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing. The analysis was performed on 249 participants. Among them, 83 met diagnostic criteria of clinically probable multiple system atrophy cerebellar type (MSA-C) at baseline and another 12 during follow-up. Positive MSA-C criteria (4.94 ± 0.74, p 10 years were designated sporadic adult-onset ataxia of unknown etiology/non-MSA (SAOA/non-MSA). Compared with MSA-C, SAOA/non-MSA patients had lower SARA scores (13.6 ± 6.0 vs 16.0 ± 5.8, p = 0.0200) and a slower annual SARA increase (1.1 ± 2.3 vs 3.3 ± 3.2, p = 0.0013). In 11 of 194 tested participants (6%), a definitive or probable genetic diagnosis was made. Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset. Screening for causative mutations with a gene panel approach yielded a genetic diagnosis in 6% of the cohort. NCT02701036. © 2017 American Academy of Neurology.

  7. Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review.

    Science.gov (United States)

    Iijima, Shigeo

    2017-12-18

    Isolated congenital asplenia (ICA) is a rare and life-threatening condition that predisposes patients to severe bacterial infections. Most of the reported cases are familial and the mode of inheritance is usually autosomal dominant. Here, we report a case of sporadic isolated asplenia and review the literature while focusing on sporadic cases. We report the case of an 11-month-old female infant who developed fulminant pneumococcal meningitis. The pneumococcal vaccine-unimmunized patient was hospitalized with fever, irritability, and purpura, and was diagnosed as having meningitis, septic shock, and disseminated intravascular coagulation. Streptococcus pneumoniae was isolated from both cerebrospinal fluid and blood. She was successfully treated with prompt antibiotic therapy. During hospitalization, abdominal ultrasonography and computed tomography findings, scintigraphy results, and Howell-Jolly body-containing red blood cells indicated the presence of asplenia without any visceroarterial anomalies. Moreover, the findings of peripheral blood smears and spleen ultrasonographic examinations of her parents were normal. Majority of sporadic ICA cases were detected only after the onset of overwhelming infection and had a high mortality. In cases of severe invasive pneumococcal disease, a systematic search for Howell-Jolly bodies on blood smears and the presence of asplenia on abdominal imaging are essential for detecting ICA even in the absence of any family history. After the diagnosis of ICA, patient and parent education, vaccinations, antibiotic prophylaxis, and prompt empiric treatment of febrile episode should be provided.

  8. Fruit and vegetable intake during pregnancy and risk for development of sporadic retinoblastoma.

    Science.gov (United States)

    Orjuela, Manuela A; Titievsky, Lina; Liu, Xinhua; Ramirez-Ortiz, Marco; Ponce-Castaneda, Veronica; Lecona, Evelia; Molina, Evelyn; Beaverson, Katherine; Abramson, David H; Mueller, Nancy E

    2005-06-01

    Little is known about the causes of sporadic (noninherited) retinoblastoma. Rates seem to be somewhat higher among poorer populations in Mexico. Fruits and vegetables are important sources of carotenoids and folate. We examined whether decreased gestational maternal intake of fruits and vegetables may contribute to development of sporadic retinoblastoma. At the Instituto Nacional de Pediatria in Mexico City, we conducted a hospital-based case-control study to evaluate prenatal maternal diet. We examined dietary intake of fruits and vegetables of mothers of 101 children with retinoblastoma and 172 control children using a dietary recall questionnaire and published food nutrient content tables. The reported number of mean daily servings of fruits and vegetables was lower among case mothers when compared with control mothers [vegetables: 2.28 in controls, 1.75 in cases (P vegetables and fruits was higher in controls (103 microg) than in cases (48 microg; P vegetables [odds ratios (OR), 3.4; 95% confidence interval (95% CI), 2.0-6.0] or with a low intake of folate (OR, 3.9; 95% CI, 2.1, 7.3), or lutein/zeaxanthin (OR, 2.6; 95% CI, 1.5-4.6) derived from fruits and vegetables. Decreased intake of vegetables and fruits during pregnancy and the consequent decreased intake of nutrients such as folate and lutein/zeaxanthin, necessary for DNA methylation, synthesis, and retinal function, may increase risk for having a child with sporadic retinoblastoma.

  9. Expression of the Circadian Clock Genes Pert, Per2 in Sporadic, Familial Breast Tumors

    Directory of Open Access Journals (Sweden)

    Sherry L. Winter

    2007-10-01

    Full Text Available There is a growing body of evidence implicating aberrant circadian clock expression in the development of cancer. Based on our initial experiments identifying a putative interaction between BRCA1, the clock proteins Per1, Per2, as well as the reported involvement of the circadian clock in the development of cancer, we have performed an expression analysis of the circadian clock genes Per1, Per2 in both sporadic, familial primary breast tumors, normal breast tissues using real-time polymerase chain reaction. Significantly decreased levels of Per1 were observed between sporadic tumors, normal samples (P < .00001, as well as a further significant decrease between familial, sporadic breast tumors for both Per1 (P < .00001, Per2 (P < .00001. Decreased Per1 was also associated with estrogen receptor negativity (53% vs 15%, P = .04. These results suggest a role for both Perl, Per2 in normal breast function, show for the first time that deregulation of the circadian clock may be an important factor in the development of familial breast cancer. Aberrant expression of circadian clock genes could have important consequences on the transactivation of downstream targets that control the cell cycle, on the ability of cells to undergo apoptosis, potentially promoting carcinogenesis.

  10. Occurrence of the blanketing sporadic E layer during the recovery phase of the October 2003 superstorm

    Science.gov (United States)

    Denardini, Clezio Marcos; Resende, Laysa Cristina Araújo; Moro, Juliano; Chen, Sony Su

    2016-05-01

    We have routinely monitored the total frequency ( ftEs) and the blanketing frequency ( fbEs) of sporadic E layers with the digital sounder under the magnetic equator in the Brazilian sector. Sporadic layers appear in the equatorial region (Esq) at heights between 90 and 130 km, mainly due to irregularities in the equatorial electrojet current. However, during the recovery phase of the October 2003 superstorm, an anomalous intensification of the ionospheric density that exceeded the normal ambient background values for local time and location was observed. The parameter fbEs rose to almost 7.5 MHz during this event, due to a type "c" blanketing sporadic layer (Esc), which is driven by wind shear. This result is discussed in terms of the atmosphere dynamics based on magnetic signature of the equatorial electrojet current using magnetometer data. Also, using data measured by sensors onboard the Geostationary Operational Environmental Satellite (GOES) 10 we analyze the possible influence of the solar flare-associated X-ray flux as an additional source of ionization.

  11. Performance of D-Parameters in Isolating Meteor Showers from the Sporadic Background

    Science.gov (United States)

    Moorhead, Althea

    2016-01-01

    It is often necessary to draw a division between meteor showers and the sporadic meteor complex in order to study these components of the meteoroid environment. Meteor showers persist for less than a season and are composed of members with a greater-than-average degree of orbital similarity. The level of orbital similarity is often quantified using so-called D-parameters; a D-parameter cutoff may be employed to define or extract a shower. Depending on the study, this cutoff value may be chosen based on the size of the data-set, the percentage of sporadic meteors within the data-set, or the inclination of the shower in question. We argue that the cutoff value should also reject the strength of the shower compared to the local sporadic background. We therefore present a method for determining, on a per-shower basis, the D-parameter cutoff that limits the false-positive rate to an acceptable percentage. If the false-positive rate exceeds this percentage regardless of cutoff value, we deem the shower to be undetectable in our data. We apply this method to optical meteor observations from the NASA All-Sky and Southern Ontario Meteor Networks and present the detectable meteor showers and their characteristics.

  12. The role of nonsteroidal anti-inflammatory drugs in colorectal cancer prevention

    NARCIS (Netherlands)

    Giardiello, F. M.; Offerhaus, G. J.; DuBois, R. N.

    1995-01-01

    Colorectal cancer is the second leading cause of cancer death in the U.S.A. Recent research suggests that nonsteroidal anti-inflammatory drugs (NSAIDs) are effective in the prevention of colorectal neoplasia. This review summarises the results of research in animals and humans of these compounds in

  13. Stepwise radical endoscopic resection of the complete Barrett's esophagus with early neoplasia successfully eradicates pre-existing genetic abnormalities

    NARCIS (Netherlands)

    Peters, Femke P.; Krishnadath, K. K.; Rygiel, Agnieszka M.; Curvers, Wouter L.; Rosmolen, Wilda D.

    2007-01-01

    OBJECTIVES: Malignant transformation of Barrett's mucosa is associated with the accumulation of genetic alterations. Stepwise radical endoscopic resection of the Barrett's segment with early neoplasia is a promising new treatment resulting in complete re-epithelialization of the esophagus with

  14. Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3

    DEFF Research Database (Denmark)

    Hovden, Silje; Jespersen, Marie Louise; Nissen, Peter H

    2016-01-01

    Familial hypocalciuric hypercalcemia type 3 should be considered as differential diagnosis in patients with suspected primary hyperparathyroidism and/or suspected multiple neoplasia syndrome, as correct diagnosis will spare the patients for going through multiple futile parathyroidectomies and fo...

  15. Sporadic diffuse segmental interstitial cell of Cajal hyperplasia harbouring two gastric gastrointestinal stromal tumours (GIST mimicking hereditary GIST syndromes

    Directory of Open Access Journals (Sweden)

    Mafalda Costa Neves

    2015-01-01

    Conclusion: We describe a diffuse form of sporadic ICC hyperplasia harbouring multifocal GISTs, mimicking diffuse ICC hyperplasia in hereditary GIST syndromes. Detection of somatic c-KIT exon 11 mutation ruled out a hereditary disorder.

  16. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

    DEFF Research Database (Denmark)

    Burn, John; Bishop, D Timothy; Mecklin, Jukka-Pekka

    2008-01-01

    BACKGROUND: Observational and epidemiologic data indicate that the use of aspirin reduces the risk of colorectal neoplasia; however, the effects of aspirin in the Lynch syndrome (hereditary nonpolyposis colon cancer) are not known. Resistant starch has been associated with an antineoplastic effect...... on the colon. METHODS: In a randomized, placebo-controlled trial, we used a two-by-two design to investigate the effects of aspirin, at a dose of 600 mg per day, and resistant starch (Novelose), at a dose of 30 g per day, in reducing the risk of adenoma and carcinoma among persons with the Lynch syndrome...... developed in 141 participants. Of 693 participants randomly assigned to receive aspirin or placebo, neoplasia developed in 66 participants receiving aspirin (18.9%), as compared with 65 receiving placebo (19.0%) (relative risk, 1.0; 95% confidence interval [CI], 0.7 to 1.4). There were no significant...

  17. Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.

    Science.gov (United States)

    Kasturi, Kannan; Fernandes, Lucas; Quezado, Martha; Eid, Mary; Marcus, Leigh; Chittiboina, Prashant; Rappaport, Mark; Stratakis, Constantine A; Widemann, Brigitte; Lodish, Maya

    2017-06-01

    Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer syndrome characterized in part by metastatic medullary thyroid cancer (MTC) and pheochromocytoma. Cushing disease is a rare cause of endogenous hypercortisolism in children. We describe a 21-year-old African-American male who was diagnosed at age 10 with an ACTH-secreting pituitary microadenoma. At age 16 he developed medullary thyroid cancer and was found to have multiple endocrine neoplasia type 2B with the characteristic M918T mutation of the RET proto-oncogene. Following thyroidectomy, he was initiated on Vandetanib, a tyrosine kinase inhibitor, and has since had stable disease over the last 5 years. Our patient is the first individual with MEN2B to be described with Cushing disease. The RET oncogene may play a role in pituitary tumorigenesis; alternatively, the coexistence of these two entities may represent an extremely rare coincidence.

  18. Ocorrência de neoplasias em caninos na cidade de Salvador, Bahia (Achados de biopsias.

    Directory of Open Access Journals (Sweden)

    V. T. F. de Souza

    2005-03-01

    Full Text Available RESUMO: Estudaram-se microscopicamente 138 amostras obtidas de biopsias de diversos tecidos e órgãos de caninos da região metropolitana de Salvador, Bahia. Foram diagnosticadas 126 casos de neoplasias de vários tipos histológicos, sobressaindo os tumores de pele e os da glândula mamária . PALAVRAS CHAVE: Neoplasias, caninos, tumores, patologia , achados de biopsia , câncer, neoplasmas SUMMARY: Microscopic examinations were performed in the 138 biopsies of various tecides and organs of the canines from the metropolitan regions of Salvador, Bahia. Diagnostic showed 126 cases of the neoplasms of various histologic appearances, must of the teguments and mammary glands tumors. KEYWORDS: Neoplasies, canines, tumours, pathology, biopsies, findings, cancer, neoplasms.

  19. The role of surgery in the management of gestational trophoblastic neoplasia.

    Science.gov (United States)

    Doll, Kemi M; Soper, John T

    2013-07-01

    Although sensitive human chorionic gonadotropin assays and advances in chemotherapy have assumed primary importance in the management of gestational trophoblastic neoplasia, surgery remains important in the overall care of these patients. Management of molar pregnancies consists of surgical evacuation and subsequent monitoring. Hysterectomy decreases the risk of post-molar trophoblastic disease in appropriate patients and, when incorporated to primary management of gestational trophoblastic neoplasia, can decrease the chemotherapy requirements of patients with low-risk disease. In patients with high-risk disease, surgical intervention is frequently required to control complications of disease or as therapy to stabilize patients during chemotherapy. Hysterectomy, thoracotomy, or other extirpative procedures may be integrated into the management of patients with chemorefractory disease. Interventional procedures are useful adjuncts to control bleeding from metastases.

  20. Giant Extra-Adrenal Retroperitoneal Myelolipoma With Incidental Gastric Mesenchymal Neoplasias.

    Science.gov (United States)

    Yildiz, Baris D

    2015-06-01

    Extra-adrenal myelolipomas are rare, benign tumors composed of adipose tissue and hematopoietic cells. Almost all myelolipomas occur within the adrenal gland. Only 50 cases of myelolipomas were described in literature and none of these were associated with gastric mesenchymal neoplasia. A 72-year-old male patient presented to a family medicine outpatient clinic with dyspnea and urinary urgency. His abdominal sonography revealed a 9-cm intra-abdominal mass. An incidental finding was 2 separate masses 1 cm each on the serosal surface of the stomach. The pathology specimen of the retroperitoneal mass revealed myelolipoma histopathology while gastric masses were reported as spindle cell mesenchymal neoplasias. The association of gastric spindle cell tumor and myelolipoma was not reported before in medical literature. Extra-adrenal myelolipomas are rare lesions, but should be considered in the differential diagnosis of fat containing retroperitoneal masses that are well circumscribed.

  1. Cancer driver-passenger distinction via sporadic human and dog cancer comparison: a proof of principle study with colorectal cancer

    OpenAIRE

    Tang, Jie; Li, Yaping; Lyon, Kenneth; Camps, Jordi; Dalton, Stephen; Ried, Thomas; Zhao, Shaying

    2013-01-01

    Herein we report a proof of principle study illustrating a novel dog-human comparison strategy that addresses a central aim of cancer research, namely cancer driver–passenger distinction. We previously demonstrated that sporadic canine colorectal cancers (CRCs) share similar molecular pathogenesis mechanisms as their human counterparts. In this study, we compared the genome-wide copy number abnormalities between 29 human- and 10 canine sporadic CRCs. This led to the identification of 73 drive...

  2. Allele doses of apolipoprotein E type {epsilon}4 in sporadic late-onset Alzheimer`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Lucotte, G.; Aouizerate, A.; Gerard, N. [Regional Center of Neurogenetics, Paris (France)] [and others

    1995-12-18

    Apoliprotein E, type {epsilon}4 allele (ApoE-{epsilon}4) is associated with late-onset sporadic Alzheimer`s disease (AD). We have found that the cumulative probability of remaining unaffected over time decreases for each dose of ApoE-{epsilon}4 in sporadic, late-onset French AD. The effect of genotypes on age at onset of AD was analyzed using the product limit method, to compare unaffected groups during aging. 26 refs., 2 figs., 1 tab.

  3. Sporadic early-onset colorectal cancer is a specific sub-type of cancer: a morphological, molecular and genetics study.

    Directory of Open Access Journals (Sweden)

    Sylvain Kirzin

    Full Text Available Sporadic early onset colorectal carcinoma (EOCRC which has by definition no identified hereditary predisposition is a growing problem that remains poorly understood. Molecular analysis could improve identification of distinct sub-types of colorectal cancers (CRC with therapeutic implications and thus can help establish that sporadic EOCRC is a distinct entity. From 954 patients resected for CRC at our institution, 98 patients were selected. Patients aged 45-60 years were excluded to help define "young" and "old" groups. Thirty-nine cases of sporadic EOCRC (patients ≤ 45 years with microsatellite stable tumors were compared to both microsatellite stable tumors from older patients (36 cases, patients>60 years and to groups of patients with microsatellite instability. Each group was tested for TP53, KRAS, BRAF, PIK3CA mutations and the presence of a methylator phenotype. Gene expression profiles were also used for pathway analysis. Compared to microsatellite stable CRC from old patients, sporadic EOCRC were characterized by distal location, frequent synchronous metastases and infrequent synchronous adenomas but did not have specific morphological characteristics. A familial history of CRC was more common in sporadic EOCRC patients despite a lack of identified hereditary conditions (p = 0.013. Genetic studies also showed the absence of BRAF mutations (p = 0.022 and the methylator phenotype (p = 0.005 in sporadic EOCRC compared to older patients. Gene expression analysis implicated key pathways such as Wnt/beta catenin, MAP Kinase, growth factor signaling (EGFR, HGF, PDGF and the TNFR1 pathway in sporadic EOCRC. Wnt/beta catenin signaling activation was confirmed by aberrant nuclear beta catenin immunostaining (p = 0.01. This study strongly suggests that sporadic EOCRC is a distinct clinico-molecular entity presenting as a distal and aggressive disease associated with chromosome instability. Furthermore, several signaling pathways including the

  4. RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation

    NARCIS (Netherlands)

    Yan, Helen H N; Lai, Jeffrey C W; Ho, Siu Lun; Leung, Wai Keung; Law, Wai Lun; Lee, Janet F Y; Chan, Anthony K W; Tsui, Wai Yin; Chan, Annie S Y; Lee, Bernard C H; Yue, Sarah S K; Man, Alice H Y; Clevers, Hans; Yuen, Siu Tsan; Leung, Suet Yi

    2016-01-01

    OBJECTIVE: Serrated polyps (hyperplastic polyps, sessile or traditional serrated adenomas), which can arise in a sporadic or polyposis setting, predispose to colorectal cancer (CRC), especially those with microsatellite instability (MSI) due to MLH1 promoter methylation (MLH1(me+)). We investigate

  5. Adenomatous polyposis coli-deficient zebrafish are susceptible to digestive tract neoplasia.

    NARCIS (Netherlands)

    Haramis, A.-P.G.; Hurlstone, A.; Velden, Y. van der; Begthel, H.; Born, M. van den; Offerhaus, G.J.A.; Clevers, J.C.

    2006-01-01

    Truncation of the tumour suppressor adenomatous polyposis coli (APC) constitutively activates the Wnt/beta-catenin signalling pathway. This event constitutes the primary transforming event in sporadic colorectal cancer in humans. Moreover, humans or mice carrying germline truncating mutations in APC

  6. Adenomatous polyposis coli-deficient zebrafish are susceptible to digestive tract neoplasia

    NARCIS (Netherlands)

    Haramis, Anna-Pavlina G.; Hurlstone, Adam; van der Velden, Yme; Begthel, Harry; van den Born, Maaike; Offerhaus, G. Johan A.; Clevers, Hans C.

    2006-01-01

    Truncation of the tumour suppressor adenomatous polyposis coli (APC) constitutively activates the Wnt/beta-catenin signalling pathway. This event constitutes the primary transforming event in sporadic colorectal cancer in humans. Moreover, humans or mice carrying germline truncating mutations in APC

  7. First-line chemotherapy in low-risk gestational trophoblastic neoplasia.

    LENUS (Irish Health Repository)

    Alazzam, Mo'iad

    2012-01-01

    This is an update of a Cochrane review that was first published in Issue 1, 2009. Gestational trophoblastic neoplasia (GTN) is a rare but curable disease arising in the fetal chorion during pregnancy. Most women with low-risk GTN will be cured by evacuation of the uterus with or without single-agent chemotherapy. However, chemotherapy regimens vary between treatment centres worldwide and the comparable benefits and risks of these different regimens are unclear.

  8. Electron beam radiotherapy for the management of recurrent extensive ocular surface squamous neoplasia with orbital extension

    OpenAIRE

    Ramesh Murthy; Himika Gupta; Rahul Krishnatry; Siddhartha Laskar

    2015-01-01

    Recurrent extensive ocular surface squamous neoplasia (OSSN) with orbital invasion can be successfully managed with external radiotherapy using electrons resulting in eye and vision salvage. We report a case of right eye recurrent OSSN in an immunocompetent adult Indian male, with extensive orbital involvement. The patient had two previous surgical excisions with recurrent disease. At this stage, conventionally exenteration is considered the treatment modality. However, he was treated with 50...

  9. Characterization of a group of patients with cervical intraepithelial neoplasia diagnosed by diathermic loop biopsy

    International Nuclear Information System (INIS)

    Torriente Hernandez, Santa; Valdes Alvarez, Orlando; Villarreal Martinez, Aracelis; Lugo Sanchez, Ana

    2011-01-01

    A retrospective, longitudinal and descriptive study was conducted in 2 696 medical records corresponding to patients diagnosed with cervical intraepithelial neoplasia (CIN) and invasive cancer of cervix uteri (CCU) seen in the mother hospital of Guanabacoa municipality over above mentioned period. The information processing was from the data retrieval from medical records and biopsy control registry entering in a database in Microsoft Excel and the statistic processing using the SPSS package version 15 and EPIDAT

  10. Correlation of visual inspection with cytological and histopathological findings in cervical neoplasia

    Directory of Open Access Journals (Sweden)

    P Sherpa

    2017-03-01

    Full Text Available Background: Cervical cancer is one of the commonest malignancies and a leading cause of morbidity and mortality among women. The aim of this study was to evaluate the diagnostic value of Papanicolaou (PAP smear and visual inspection with acetic acid as methods of cervical cancer screening.Materials and Methods: This was a observational cross-sectional study conducted from the period of 2068.11.01 to 2069.11.01. The study population consisted of women with histologically confirmed cervical intraepithelial neoplasia or invasive carcinoma who had undergone prior PAP smear.Results: During the study period 160 patients underwent both PAP smear and cervical biopsy. Of these patients, 49 had a histological diagnosis of cervical intraepithelial neoplasia or invasive carcinoma. The histopathological and cytological diagnoses were compared. Visual inspection with acetic acid status was available for 31 of the 49 cases. The sensitivity of PAP smear was 61%, specificity 97%, positive predictive value 91%, negative predictive value 85% and diagnostic accuracy 86% for detection of cervical neoplasia. Visual inspection with acetic acid had a sensitivity of 74%, specificity 48%, Positive predictive value 64%, Negative predictive value 60% and diagnostic accuracy of 63%. Combining the two procedures increased sensitivity by 26%, Negative predictive value by 11%  and diagnostic accuracy by 2 per cent.Conclusion: PAP smear has a higher specificity, Positive predictive value, Negative predictive value and diagnostic accuracy but lower sensitivity than visual inspection with acetic acid. Visual inspection with acetic acid by itself is not an effective screening method. A combination of PAP smear and visual inspection with acetic acidcan ensure adequate screening of cervical neoplasia.

  11. Osteoporosis in Multiple Endocrine Neoplasia Type I: A Case Report – Case Report

    OpenAIRE

    Kurtuluş Kaya; Ebru Özcan; Sumru Özel

    2008-01-01

    Multiple Endocrine Neoplasia type I (MEN type-I) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary. Primary hyperparathyroidism is the most common clinical expression in affected patients, present in more than 90% of cases. Osteoporosis is a frequent and early complication of primary hyperparathyroidism in MEN type I. A case with a diagnosis of MEN type-I, 39 years old, presented with humeral, fem...

  12. Hospitalization in Spain associated with malignant neoplasias of the vulva and vagina (1997-2008).

    Science.gov (United States)

    Gil-Prieto, Ruth; Cortés Bordoy, Javier; Ramón y Cajal, José Manuel; Viguera Ester, Pablo; Gil de Miguel, Angel

    2011-08-01

    An important percentage of vulvar and vaginal cancers may be attributed to infections by the human papillomavirus. Although the incidence of invasive vulvar and vaginal cancers is low, it has remained stable over the past years. Hospital discharges related to malignant neoplasias and in situ carcinomas of the vulva and vagina from 1997 to 2008 were selected from the Minimum Data Set of the Ministry of Health in Spain. 17,883 hospital admissions related to vulvar and vaginal malignant neoplasias and 2,185 admissions related to in situ carcinomas of the vulva and vagina were gathered, with a hospitalization rate of 7,054 and 0.862 discharges per 100,000 women/year, respectively. The mean age of patients was 57 (SD:18) years, and the mean length of hospital stay was 8 (SD:10) days. There was a statistically significant increase in the hospitalization rate for malignant neoplasias and in situ carcinomas with increasing patient age. This increase was significant for all locations. Overall, there was a case fatality rate of 9.34% for vulvar and vaginal malignant neoplasias and 0.46% for in situ carcinomas of an external genital organ. Mortality and case fatality rates increased significantly throughout the length of the study. 92% of all deaths occurred in those older than 55 years of age. Mortality and case fatality rates also increased significantly with age. The hospitalization rate follows a north-south pattern. These data of the pre-anti-HPV vaccine era may be useful to develop cost-effectiveness models and strategies and evaluate the impact of HPV vaccination in Spain.

  13. Linear array ultrasonography to stage rectal neoplasias suitable for local treatment.

    Science.gov (United States)

    Ravizza, Davide; Tamayo, Darina; Fiori, Giancarla; Trovato, Cristina; De Roberto, Giuseppe; de Leone, Annalisa; Crosta, Cristiano

    2011-08-01

    Because of the many therapeutic options available, a reliable staging is crucial for rectal neoplasia management. Adenomas and cancers limited to the submucosa without lymph node involvement may be treated locally. The aim of this study is to evaluate the diagnostic accuracy of endorectal ultrasonography in the staging of neoplasias suitable for local treatment. We considered all patients who underwent endorectal ultrasonography between 2001 and 2010. The study population consisted of 92 patients with 92 neoplasias (68 adenocarcinomas and 24 adenomas). A 5 and 7.5MHz linear array echoendoscope was used. The postoperative histopathologic result was compared with the preoperative staging defined by endorectal ultrasonography. Adenomas and cancers limited to the submucosa were considered together (pT0-1). The sensitivity, specificity, overall accuracy rate, positive predictive value, and negative predictive value of endorectal ultrasonography for pT0-1 were 86%, 95.6%, 91.3%, 94.9% and 88.7%. Those for nodal involvement were 45.4%, 95.5%, 83%, 76.9% and 84%, with 3 false positive results and 12 false negative. For combined pT0-1 and pN0, endorectal ultrasonography showed an 87.5% sensitivity, 95.9% specificity, 92% overall accuracy rate, 94.9% positive predictive value and 90.2% negative predictive value. Endorectal linear array ultrasonography is a reliable tool to detect rectal neoplasias suitable for local treatment. Copyright © 2011 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  14. Impact of family history of gastric cancer on colorectal neoplasias in young Japanese.

    Science.gov (United States)

    Hata, K; Shinozaki, M; Toyoshima, O; Toyoshima, A; Matsumoto, S; Saisho, T; Tsurita, G

    2013-01-01

    The aim of this study was to elucidate risk factors for the development of colorectal neoplasia in the young population. In particular, we focused on the family history of gastric cancer. Young Japanese subjects aged 30-49 years old who underwent colonoscopy for the first time from August 2007 to August 2008 were included in this study. A total of 300 unselected consecutive patients (mean age 40.5 years) were eligible for analysis, and family history of colorectal cancer and gastric cancer, sex, age, body mass index, positivity of faecal occult blood test and the presence of symptoms were evaluated. Risk factors for developing colorectal adenoma and/or carcinoma were assessed. Colorectal neoplasias were detected in 83 (27.7%) cases. Two were found to have invasive carcinoma. Univariate and multivariate analyses revealed that family history of gastric cancer (OR 2.09, 95% CI 1.12-3.92, P = 0.02) was an independent risk factor for the development of colorectal neoplasia, as well as male sex (OR 1.89, 95% CI 1.10-3.27, P = 0.02), older age (OR 2.05, 95% CI 1.18-3.55, P = 0.01) and positive faecal occult blood test (OR 1.99, 95% CI 1.14-3.48, P = 0.02). In the young population under 50 years of age, a family history of gastric cancer is an independent risk factor for the development of colorectal neoplasia. © 2012 The Authors. Colorectal Disease © 2012 The Association of Coloproctology of Great Britain and Ireland.

  15. A hypothesis to relate salivary tumors with mammary and prostate neoplasias

    Science.gov (United States)

    Actis, Adriana B

    2005-01-01

    Salivary, mammary and prostate glands are sex hormone-dependent organs sharing common aspects in structure, hormonal responsiveness and tumor histopathology. Salivary tumors (especially the malignant types) are not as frequent as mammary and prostate neoplasias. Hence, prognosis of some salivary tumors is not always efficient. Here, we review the oncology of salivary gland and its putative relation to breast/prostate tumors. PMID:17597843

  16. Selective Role for Mek1 but not Mek2 in the Induction of Epidermal Neoplasia

    OpenAIRE

    Scholl, Florence A.; Dumesic, Phillip A.; Barragan, Deborah I.; Harada, Kazutoshi; Charron, Jean; Khavari, Paul A.

    2009-01-01

    The Ras/Raf/Mek/Erk mitogen-activated protein kinase pathway regulates fundamental processes in normal and malignant cells, including proliferation, differentiation, and cell survival. Mutations in this pathway have been associated with carcinogenesis and developmental disorders, making Mek1 and Mek2 prime therapeutic targets. In this study, we examined the requirement for Mek1 and Mek2 in skin neoplasia using the two-step 7,12-dimethylbenz(a)anthraacene/12-O-tetradecanoylphorbol-13-acetate (...

  17. The immunoexpression of heparanase 2 in normal epithelium, intraepithelial, and invasive squamous neoplasia of the cervix.

    Science.gov (United States)

    Marques, Renato Moretti; Focchi, Gustavo Rubino; Theodoro, Thérèse Rachell; Castelo, Adauto; Pinhal, Maria Aparecida; Nicolau, Sérgio Mancini

    2012-07-01

    Heparanase 2 (HPSE2) is expressed in various tissues, including the brain, intestine, prostate, breast, and endometrium. The aim of this study was to investigate the role of HPSE2 in cervical carcinogenesis, which has not been clarified to date. The immunoexpression of HPSE2 in normal and neoplastic cervical squamous epithelia was determined using a semiquantitative (SQ) method and an index of expression (IE) method, using Image Lab Software. A total of 230 cervical tissue samples were analyzed and segregated into the following diagnostic groups: normal (27.4%), cervical intraepithelial neoplasia 1 (CIN 1, 15.2%), CIN 2 (16.5%), CIN 3 (15.2%), and invasive neoplasia (25.7%). The mean HPSE2 expression in the normal group was significantly lower than that of the other groups individually or combined (p < .001, for all combinations). The immunoexpression via the SQ method was significantly greater in the CIN 3 group compared with that in the CIN 1 group (p = .02). The mean immunoexpression of the high-grade squamous intraepithelial lesion groups was significantly greater than those of the normal and low-grade squamous intraepithelial lesion groups (p < .001) and lower compared with that of the invasive neoplasia group (p < .001). There were no statistically significant differences in the immunoexpression of HPSE2 among the different clinical states within the invasive neoplasia group. The SQ method produced a greater sensitivity and specificity than did the index of expression method. There was a progressive increase in the mean HPSE2 immunoexpression according to the severity of the cervical lesion from the low-grade squamous intraepithelial lesion group to the invasive neoplasm group, whereas the normal group displayed the lowest level of expression. This is a novel study concerning HPSE2 in the cervix and cervical cancer carcinogenesis.

  18. Development of thyroid neoplasia in old age in the Amazon molly, Poecilia formosa

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    Woodhead, A.D. (Brookhaven National Lab., Upton, NY); Setlow, R.B.; Hart, R.W.

    1977-01-01

    In a previous paper we have described the appearance of a thyrotrophin sensitive thyroid neoplasm in a few senile individuals from a laboratory population of guppies, Lebistes reticulatus (Peters). Material has now been examined from the closely related species, Poecilia formosa, the Amazon molly, in which the incidence of thyroid neoplasms in the senile fish of our clones approaches 100 percent. The spontaneous growth seen in the old mollies was large, occupying much of the pharyngeal region. It was formed of three zones; at the center were inactive follicles with flattened epithelial cells enclosing a dense uneroded colloid. Peripherally, there was an area which microfollicles predominated, and the follicular epithelial cells frequently were swollen and balloon-like. The outermost area of the growth contained many afollicular groups of epithelial cells, lying amongst a great deal of loose connective tissue. The thyroid tissue was invasive, destroying muscle and bone. We have suggested that the spontaneous thyroid neoplasia in old P. formosa and L. reticulatus arise in a similar way. They develop as a result of the inability of the aging thyroid to respond to thyrotrophic hormone. Under continued pituitary stimulation the thyroid cells greatly proliferate and hypertrophy, and form a neoplasia. The appearance is described of massive thyroid growths which were experimentally induced by the injection into young mollies of cells with damaged DNA. There were striking differences between the induced and the spontaneous thyroid growths. The neoplasia of old fish was highly variable in structure, but the induced neoplasia had a regular appearance. Neoplastic tissue closely resembled normal thyroid tissue--but the growth was exuberant and highly invasive. We suggest that the differences between the neoplasm of old age and the induced neoplasm may reflect a different hormonal status.

  19. Características de um grupo de adolescentes com suspeita de neoplasia intra-epitelial cervical Characteristics of a group of adolescents with suspected cervical intraepithelial neoplasia

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    Maria Isabel do Nascimento

    2005-10-01

    Full Text Available OBJETIVO: avaliar a prevalência de alterações citológicas, colposcópicas e histopatológicas observadas no colo uterino de adolescentes com suspeita de neoplasia cervical e as correlações epidemiológicas, compararando com mulheres adultas jovens. MÉTODOS: estudo transversal, retrospectivo de revisão de 366 prontuários de mulheres encaminhadas para esclarecimento diagnóstico com suspeita de neoplasia cervical. As pacientes foram classificadas em dois grupos definidos por idade. O grupo Adolescente foi composto por 129 mulheres de 13 a 19 anos e o grupo Adulta foi composto por 237 mulheres de 20 a 24 anos. Foram calculados razão de prevalência (RP, respectivos intervalos de confiança (IC a 95% para cada variável, teste chi2 ou teste exato de Fisher quando aplicável para comparação das proporções. RESULTADOS: a sexarca ocorreu em média aos 15,0 anos no grupo Adolescente e 16,6 anos no grupo Adulta. A chance de diagnóstico de alterações citológicas no primeiro exame realizado (RP=2,61; IC 95%: 2,0-3,4, a condição neoplasia intra-epitelial cervical (NIC a esclarecer (RP=1,78; IC 95%: 1,26-2,52 e a colposcopia de baixo grau (RP=1,42; IC 95%: 1,08-1,86 foram estatisticamente significantes no grupo Adolescente. A análise histopatológica não mostrou diferenças para qualquer grau de NIC. Entretanto, foram identificados dois casos de carcinoma microinvasor, sendo um em cada grupo, e três casos de carcinoma invasor no grupo Adulta. CONCLUSÃO: nosso estudo sugere que o câncer de colo uterino é raro na adolescência, mas verificamos que alterações a ele associadas aconteceram em mulheres muito jovens. A investigação da neoplasia intra-epitelial cervical com a aplicação criteriosa dos mesmos métodos utilizados para a mulher adulta foi apropriada também na adolescência.PURPOSE: to evaluate the prevalence of cytologic, colposcopic and histopathologic alterations observed in the uterine cervix of adolescents with

  20. DCIS and LCIS are confusing and outdated terms. They should be abandoned in favor of ductal intraepithelial neoplasia (DIN) and lobular intraepithelial neoplasia (LIN).

    Science.gov (United States)

    Galimberti, Viviana; Monti, Simonetta; Mastropasqua, Mauro Giuseppe

    2013-08-01

    The terms ductal and lobular intraepithelial neoplasia (DIN and LIN) were introduced by Tavossoli 15 years ago, who proposed they should replace, respectively, ductal and lobular carcinoma in situ (DCIS and LCIS). This proposal has been slowly gaining ground. We argue that DCIS and LCIS should now be definitively abandoned. Bringing together 'in situ' and other entities into the simpler and more logical DIN/LIN framework--as has been done with intraepithelial neoplasias of cervix, vagina, vulva, prostate, and pancreas--would eliminate the artificial and illogical distinctions between 'not cancers' (e.g. flat epithelial atypia, atypical ductal hyperplasia--now classified as low grade DIN) and 'cancers' (e.g. DCIS--now considered medium-high grade DIN). Elimination of the term 'carcinoma' from entities that cannot metastasize will reduce confusion among health professionals and patients, and contribute to reducing the risk of overtreatment, as well as reducing adverse psychological reactions in patients. Copyright © 2013 Elsevier Ltd. All rights reserved.

  1. Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).

    Science.gov (United States)

    Liu, Yong; Cao, Yu; Li, Yaxiong; Lei, Dongyun; Li, Lin; Hou, Zong Liu; Han, Shen; Meng, Mingyao; Shi, Jianlin; Zhang, Yayong; Wang, Yi; Niu, Zhaoyi; Xie, Yanhua; Xiao, Benshan; Wang, Yuanfei; Li, Xiao; Yang, Lirong; Wang, Wenju; Jiang, Lihong

    2018-03-05

    BACKGROUND Recently, mutations in several genes have been described to be associated with sporadic ASD, but some genetic variants remain to be identified. The aim of this study was to use whole-exome sequencing (WES) combined with bioinformatics analysis to identify novel genetic variants in cases of sporadic congenital ASD, followed by validation by Sanger sequencing. MATERIAL AND METHODS Five Han patients with secundum ASD were recruited, and their tissue samples were analyzed by WES, followed by verification by Sanger sequencing of tissue and blood samples. Further evaluation using blood samples included 452 additional patients with sporadic secundum ASD (212 male and 240 female patients) and 519 healthy subjects (252 male and 267 female subjects) for further verification by a multiplexed MassARRAY system. Bioinformatic analyses were performed to identify novel genetic variants associated with sporadic ASD. RESULTS From five patients with sporadic ASD, a total of 181,762 genomic variants in 33 exon loci, validated by Sanger sequencing, were selected and underwent MassARRAY analysis in 452 patients with ASD and 519 healthy subjects. Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic ASD (PASD (PASD, and supported the use of WES and bioinformatics analysis to identify disease-associated mutations.

  2. Importance of thoracic radiography in the approach of animals with neoplasia/ A importância do exame radiográfico torácico na abordagem de animais portadores de neoplasias

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    Antonio Carlos Faria dos Reis

    2008-08-01

    Full Text Available The aim of the present study was to evaluate the importance of the thoracic radiography in dogs and cats with neoplasias of diverse origins and localizations, excepting mammary neoplasm. It was studied 54 animals on suspicion of pulmonary metastase and/or primary lung tumors- 49 dogs (91% and five cats (9%; being 28 (52% female (3 cats and 26 (48% male (2 cats – attended by Thoracic and Oncology Medicine Services in the Veterinary Hospital/UEL, in 2005. The mammary neoplasias were not included in this work. From the 54 animals, six (11% presented radiography examinations with evidence of pulmonary metastase, being one cat. Four animals (8% had compatible radiography examination with primary pulmonary neoplasia. These results indicate the importance of the thoracic radiography in the approach of animals with neoplasia, to exclude the possibility of pulmonary metastase independent from the neoplasm origin and the necessity of radiographic attendance to the animals without radiographic signals of pulmonary metastase.O objetivo deste trabalho foi avaliar a importância do exame radiográfico torácico em cães e gatos com neoplasias de diversas origens e localizações, excetuando neoplasias mamárias. Foram estudados 54 animais com suspeita de metástase pulmonar e/ou neoplasia pulmonar primária – 49 cães (91% e cinco felinos (9%; sendo 28 (52% fêmeas (3 felinas e 26 (48% machos (2 felinos – atendidos nos Projetos de Extensão em Medicina Torácica e Oncologia do Hospital Veterinário/UEL, durante o ano de 2005. As neoplasias mamárias, não foram inclusas neste trabalho. Dos 54 animais, seis (11% apresentaram exames radiográficos com evidência de metástase pulmonar, sendo um felino. Quatro animais (8% tiveram exame radiográfico compatível com neoplasia pulmonar primária. Esses resultados indicam a importância do exame radiográfico torácico na abordagem de animais com neoplasias, para descartar a possibilidade de met

  3. Human papillomavirus prevalence and type-distribution in cervical glandular neoplasias: Results from a European multinational epidemiological study.

    Science.gov (United States)

    Holl, Katsiaryna; Nowakowski, Andrzej M; Powell, Ned; McCluggage, W Glenn; Pirog, Edyta C; Collas De Souza, Sabrina; Tjalma, Wiebren A; Rosenlund, Mats; Fiander, Alison; Castro Sánchez, Maria; Damaskou, Vasileia; Joura, Elmar A; Kirschner, Benny; Koiss, Robert; O'Leary, John; Quint, Wim; Reich, Olaf; Torné, Aureli; Wells, Michael; Rob, Lukas; Kolomiets, Larisa; Molijn, Anco; Savicheva, Alevtina; Shipitsyna, Elena; Rosillon, Dominique; Jenkins, David

    2015-12-15

    Cervical glandular neoplasias (CGN) present a challenge for cervical cancer prevention due to their complex histopathology and difficulties in detecting preinvasive stages with current screening practices. Reports of human papillomavirus (HPV) prevalence and type-distribution in CGN vary, providing uncertain evidence to support prophylactic vaccination and HPV screening. This study [108288/108290] assessed HPV prevalence and type-distribution in women diagnosed with cervical adenocarcinoma in situ (AIS, N = 49), adenosquamous carcinoma (ASC, N = 104), and various adenocarcinoma subtypes (ADC, N = 461) from 17 European countries, using centralised pathology review and sensitive HPV testing. The highest HPV-positivity rates were observed in AIS (93.9%), ASC (85.6%), and usual-type ADC (90.4%), with much lower rates in rarer ADC subtypes (clear-cell: 27.6%; serous: 30.4%; endometrioid: 12.9%; gastric-type: 0%). The most common HPV types were restricted to HPV16/18/45, accounting for 98.3% of all HPV-positive ADC. There were variations in HPV prevalence and ADC type-distribution by country. Age at diagnosis differed by ADC subtype, with usual-type diagnosed in younger women (median: 43 years) compared to rarer subtypes (medians between 57 and 66 years). Moreover, HPV-positive ADC cases were younger than HPV-negative ADC. The six years difference in median age for women with AIS compared to those with usual-type ADC suggests that cytological screening for AIS may be suboptimal. Since the great majority of CGN are HPV16/18/45-positive, the incorporation of prophylactic vaccination and HPV testing in cervical cancer screening are important prevention strategies. Our results suggest that special attention should be given to certain rarer ADC subtypes as most appear to be unrelated to HPV. © 2015 The Authors. Published by Wiley Periodicals, Inc. on behalf of UICC.

  4. Human papilloma virus identification in breast cancer patients with previous cervical neoplasia

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    James Sutherland Lawson

    2016-01-01

    Full Text Available Purpose: Women with human papilloma virus (HPV associated cervical neoplasia have a higher risk of developing breast cancer than the general female population. The purpose of this study was to (i identify high risk for cancer HPVs in cervical neoplasia and subsequent HPV positive breast cancers which developed in the same patients and (ii determine if these HPVs were biologically active.Methods: A range of polymerase chain reaction (PCR and immunohistochemical techniques were used to conduct a retrospective cohort study of cervical precancers and subsequent breast cancers in the same patients. Results: The same high risk HPV types were identified in both the cervical and breast specimens in 13 (46% of 28 patients. HPV type 18 was the most prevalent. HPVs appeared to be biologically active as demonstrated by the expression of HPV E7 proteins and the presence of HPV associated koilocytes. The average age of these patients diagnosed with breast cancer following prior cervical precancer was 51 years, as compared to 60 years for all women with breast cancer (p for difference = 0.001. Conclusions: These findings indicate that high risk HPVs can be associated with cervical neoplasia and subsequent young age breast cancer. However these associations are unusual and are a very small proportion of breast cancers. These outcomes confirm and extend the observations of 2 similar previous studies and offer one explanation for the increased prevalence of serious invasive breast cancer among young women.

  5. [Usefulness of human papillomavirus testing in anal intraepithelial neoplasia screening in a risk behaviour population].

    Science.gov (United States)

    Padilla-España, Laura; Repiso-Jiménez, Bosco; Fernández-Sánchez, Fernando; Frieyro-Elicegui, Marta; Fernández-Morano, Teresa; Pereda, Teresa; Rivas-Ruiz, Francisco; Redondo, Maximino; de-Troya Martín, Magdalena

    2014-11-01

    The incidence of intraepithelial anal neoplasia is increasing in certain risk behaviour groups, and human papillomavirus (HPV) infection is involved in its pathogenesis. The systematic use of anal cytology, and more recently HPV detection by hybrid capture and genotyping, have been introduced into screening programs in recent decades. A retrospective cohort study was carried out on individuals with risk behaviours of developing intraepithelial anal neoplasia and who attended Sexually Transmitted Infections clinics in the Dermatology area of the Hospital Costa del Sol from January 2010 to December 2012. The intraepithelial anal neoplasia screening was performed using anal cytology and HPV genotyping. Half (50%) of the study population were HIV positive. A high frequency of anal dysplasia and presence of HPV in cytology (82.1%) and genotype (79%) was found. A statistically significant association (P<.005) was obtained between the presence of high-risk HPV genotypes and the presence of high-grade dysplasia in the second directed cytology. HPV genotyping enabled 17 cases (22%) of severe dysplasia to be identified that were under-diagnosed in the first cytology. Cases of high-grade dysplasia can be under-diagnosed by a first anal cytology. Detection of HPV can supplement this procedure, leading to the identification of those patients most at risk of developing high-grade anal dysplasia. Copyright © 2013 Elsevier España, S.L.U. y Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

  6. Synchronous colorectal neoplasias: our experience about laparoscopic-TEM combined treatment.

    Science.gov (United States)

    Spizzirri, Alessandro; Coccetta, Marco; Cirocchi, Roberto; La Mura, Francesco; Napolitano, Vincenzo; Bravetti, Maurizio; Giuliani, Daniele; De Sol, Angelo; Pressi, Eleonora; Trastulli, Stefano; Di Patrizi, Micol Sole; Avenia, Nicola; Sciannameo, Francesco

    2010-11-25

    Synchronous colorectal neoplasias are defined as 2 or more primary tumors identified in the same patient and at the same time. The most voluminous synchronous cancer is called "first primitive" or "index" cancer. The aim of this work is to describe our experience of minimally invasive approach in patients with synchronous colorectal neoplasias.Since January 2001 till December 2009, 557 patients underwent colectomy for colorectal cancer at the Department of General and Emergency Surgery of the University of Perugia; 128 were right colon cancers, 195 were left colon cancers while 234 patients were affected by rectal cancers. We performed 224 laparoscopic colectomies (112 right, 67 left colectomies and 45 anterior resections of rectum), 91 Transanal Endoscopic Microsurgical Excisions (TEM) and 53 Trans Anal Excisions (TAE). In the same observation period 6 patients, 4 males and 2 females, were diagnosed with synchronous colorectal neoplasias. Minimal invasive treatment of colorectal cancer offers the opportunity to treat two different neoplastic lesions at the same time, with a shorter post-operative hospitalization and minor complications. According to our experience, laparoscopy and TEM may ease the treatment of synchronous diseases with a lower morbidity rate.

  7. Fertility-sparing uterine lesion resection for young women with gestational trophoblastic neoplasias: single institution experience.

    Science.gov (United States)

    Wang, Xiaoyu; Yang, Junjun; Li, Jie; Zhao, Jun; Ren, Tong; Feng, Fengzhi; Wan, Xirun; Xiang, Yang

    2017-06-27

    To evaluate the oncological safety and pregnant outcomes of fertility-sparing uterine lesion resection in treating gestational trophoblastic neoplasias. After the treatment of surgery and chemotherapy, all the patients achieved complete remission. With a median follow-up time of 44 months (range, 6-188), 3 patients (3.85%) relapsed within 3-26 months. Multivariate analysis showed that tumor size was the independent risk factor of recurrence and the cutoff value was 4.2cm. Among 37 patients who attempted to conceive, 31 achieved clinical pregnancy. The rate of pregnancy and live birth were 83.8% and 77.4%. Uterine rupture did not occurred no matter in cesarean section or vaginal delivery. No congenital abnormalities were reported among the live births. From January 1995 to December 2014, 78 patients with gestational trophoblastic neoplasias who underwent fertility-sparing uterine lesion resection at Peking Union Medical College Hospital were reviewed. The complete remission rate, fertility rate, pregnant outcomes and risk factors of recurrence were analyzed. Fertility-sparing uterine lesion resection might be considered as a safe and reasonable alternative for high-selected young women to remove uterine lesion in the treatment of gestational trophoblastic neoplasias.

  8. Turner syndrome and meningioma: support for a possible increased risk of neoplasia in Turner syndrome.

    Science.gov (United States)

    Pier, Danielle B; Nunes, Fabio P; Plotkin, Scott R; Stemmer-Rachamimov, Anat O; Kim, James C; Shih, Helen A; Brastianos, Priscilla; Lin, Angela E

    2014-01-01

    Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  9. Optical Molecular Imaging of Epidermal Growth Factor Receptor Expression to Improve Detection of Oral Neoplasia

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    Nitin Nitin

    2009-06-01

    Full Text Available Background: The development of noninvasive molecular imaging approaches has the potential to improve management of cancer. Methods: In this study, we demonstrate the potential of noninvasive topical delivery of an epidermal growth factor-Alexa 647 (EGF-Alexa 647 conjugate to image changes in epidermal growth factor receptor expression associated with oral neoplasia. We report a series of preclinical analyses to evaluate the optical contrast achieved after topical delivery of EGF-Alexa 647 in a variety of model systems, including cells, three-dimensional tissue cultures, and intact human tissue specimens using wide-field and high-resolution fluorescence imaging. Data were collected from 17 different oral cancer patients: eight pairs of normal and abnormal biopsies and nine resected tumors were examined. Results: The EGF-dye conjugate can be uniformly delivered throughout the oral epithelium with a penetration depth exceeding 500 µm and incubation time of less than 30 minutes. After EGF-Alexa 647 incubation, the presence of oral neoplasia is associated with a 1.5- to 6.9-fold increase in fluorescence contrast compared with grossly normal mucosa from the same patient with both wide-field and high-resolution fluorescence imaging. Conclusions: Results illustrate the potential of EGF-targeted fluorescent agents for in vivo molecular imaging, a technique that may aid in the diagnosis and characterization of oral neoplasia and allow real-time detection of tumor margins.

  10. Risk of preterm birth in women with cervical intraepithelial neoplasia grade one: a population-based cohort study.

    Science.gov (United States)

    Heinonen, Annu; Gissler, Mika; Paavonen, Jorma; Tapper, Anna-Maija; Jakobsson, Maija

    2018-02-01

    In this population-based register study our objective was to explore the association of cervical intraepithelial neoplasia, grade 1 and loop electrosurcigal excision procedure with preterm birth. Our population consisted of 4759 women diagnosed with cervical intraepithelial neoplasia, grade 1 during 1997-2009 and their 3021 subsequent deliveries analyzed by loop electrosurcigal excision procedure and parity. Hospital Discharge Register was used to identify women diagnosed for cervical intraepithelial neoplasia, grade 1 and these data were linked with the Medical Birth Register data. We calculated odds ratios with 95% confidence intervals. Cervical intraepithelial neoplasia, grade 1 patients with loop electrosurcigal excision procedure had 54 (6.7%) subsequent preterm births and the corresponding figure among cervical intraepithelial neoplasia, grade 1 patients without loop electrosurcigal excision procedure was 116 (5.2%). This results in odds ratios 1.31 (95% confidence interval 0.94-1.83). We assessed the risk before and after diagnosis of cervical intraepithelial neoplasia, grade 1 both for patients with loop electrosurcigal excision procedure (odds ratios 1.47, 95% confidence interval 1.05-2.06) and without loop electrosurcigal excision procedure (odds ratios 0.90, 95% confidence interval 0.71-1.13). An increased risk for preterm birth after diagnosis of cervical intraepithelial neoplasia, grade 1 and loop electrosurcigal excision procedure was observed. We also compared both groups to the background population in the Medical Birth Register. For cervical intraepithelial neoplasia, grade 1 patients without loop electrosurcigal excision procedure the risk for preterm birth was not increased (odds ratios 0.95, 95% confidence interval 0.76-1.21) whereas for cervical intraepithelial neoplasia, grade 1 patients treated with loop electrosurcigal excision procedure the risk for preterm birth was increased (odds ratios 1.45, 95% confidence interval 1.02-1.92). Loop

  11. Is there any association between hormonal contraceptives and cervical neoplasia in a poor Nigerian setting?

    Directory of Open Access Journals (Sweden)

    Ajah LO

    2015-07-01

    Full Text Available Leonard Ogbonna Ajah,1,2 Chibuike Ogwuegbu Chigbu,2 Benjamin Chukwuma Ozumba,2 Theophilus Chimezie Oguanuo,2 Paul Olisaemeka Ezeonu1 1Department of Obstetrics and Gynaecology, Federal Teaching Hospital, Abakaliki, Nigeria; 2Department of Obstetrics and Gynaecology, University of Nigeria Teaching Hospital, Enugu, Nigeria Background: The association between hormonal contraception and cervical cancer is controversial. These controversies may hamper the uptake of hormonal contraceptives. Objective: To determine the association between hormonal contraceptives and cervical neoplasia. Materials and methods: This was a case-control study in which Pap-smear results of 156 participants on hormonal contraceptives were compared with those of 156 participants on no form of modern contraception. Modern contraception is defined as the use of such contraceptives as condoms, pills, injectables, intrauterine devices, implants, and female or male sterilization. Those found to have abnormal cervical smear cytology results were subjected further to colposcopy. Biopsy specimens for histology were collected from the participants with obvious cervical lesions or those with suspicious lesions on colposcopy. The results were analyzed with descriptive and inferential statistics at a 95% level of confidence. Results: A total of 71 (45.5%, 60 (38.5%, and 25 (16.0% of the participants on hormonal contraceptives were using oral contraceptives, injectable contraceptives, and implants, respectively. Cervical neoplasia was significantly more common among participants who were ≥35 years old (6% versus 1%, P<0.0001, rural dwellers (6% versus 3.5%, P<0.0001, unmarried (7.6% versus 3.5%, P<0.0001, unemployed (6.8% versus 3.5%, P<0.0001, less educated (6% versus 3.8%, P<0.0001, and had high parity (6.8% versus 3.6%, P<0.0001. There was no statistical significant difference in cervical neoplasia between the two groups of participants (7 [4.5%] versus 6 [3.8%], P=1.0. Conclusion

  12. Indications for percutaneous nephrostomy in patients with obstructive uropathy due to malignant urogenital neoplasias

    Directory of Open Access Journals (Sweden)

    Frederico R. Romero

    2005-04-01

    Full Text Available INTRODUCTION: Urogenital neoplasias frequently progress with obstructive uropathy due to local spreading or pelvic metastases. The urinary obstruction must be immediately relieved in order to avoid deterioration in these patients. The percutaneous nephrostomy is a safe and effective method for relief the obstruction; however the indications of such procedures have been questioned in patients with poor prognosis. MATERIAL AND METHODS: A retrospective study was performed with 43 patients (29 female and 14 male with urogenital neoplasias who were undergoing percutaneous nephrostomy during a 54-month period. The median age was 52 years. The primary tumoral site was the uterine cervix in 53.5% of patients, the bladder in 23.3%, the prostate in 11.6% and other sites in 11.6%. RESULTS: Postoperative complications occurred in 42.3% of the patients. There was no procedure-related mortality. Thirty-nine per cent of the patients died during the hospitalization period due to advanced neoplasia. The mortality rate was higher in patients with prostate cancer (p = 0.006, in patients over 52 years of age (p = 0.03 and in those who required hemodialysis before the procedure (p = 0.02. Thirty-two per cent of the patients survived long enough to undergo some form of treatment focused on the primary tumor. The survival rate was 40% at 6 months and 24.2% at 12 months. The percentage of the lifetime spent in hospitalization was 17.7%. The survival rate was higher in patients with neoplasia of the uterine cervix (p = 0.007 and in patients with 52 years of age or less (p = 0.008. CONCLUSION: Morbidity was high in this patient group; however, the majority of patients could be discharged from hospital and followed at home. Patients under 52 years of age and patients with neoplasia of the uterine cervix benefited most from the percutaneous nephrostomy when compared to patients with hormone therapy-refractory prostate cancer, bladder cancer or over 52 years of age.

  13. Effect of appendicectomy on colonic inflammation and neoplasia in experimental ulcerative colitis.

    Science.gov (United States)

    Harnoy, Y; Bouhnik, Y; Gault, N; Maggiori, L; Sulpice, L; Cazals-Hatem, D; Boudjema, K; Panis, Y; Ogier-Denis, E; Treton, X

    2016-10-01

    Ulcerative colitis (UC) promotes cancer, and can be ameliorated by early appendicectomy for appendicitis. The aim of the study was to explore the effect of appendicectomy on colitis and colonic neoplasia in an animal model of colitis and a cohort of patients with UC. Five-week old IL10/Nox1(DKO) mice with nascent colitis and 8-week-old IL10/Nox1(DKO) mice with established colitis underwent appendicectomy (for experimental appendicitis or no appendicitis) or sham laparotomy. The severity and extent of colitis was assessed by histopathological examination, and a clinical disease activity score was given. From a cohort of consecutive patients with UC who underwent colectomy, the prevalence of appendicectomy and pathological findings were collected from two institutional databases. Appendicectomy for appendicitis ameliorated experimental colitis in the mice; the effect was more pronounced in the 5-week-old animals. Appendicectomy in the no-appendicitis group was associated with an increased rate of colonic high-grade dysplasia (HGD) or cancer compared with rates in sham and appendicitis groups (13 of 20 versus 0 of 20 and 0 of 20 respectively; P UC had previously had an appendicectomy, and nine of these had colonic cancer or HGD. Thirty (13·8 per cent) of 217 patients with the appendix in situ had colonic neoplastic lesions. Multivariable analysis showed that previous appendicectomy was associated with colorectal neoplasia (odds ratio 16·88, 95 per cent c.i. 3·32 to 112·69). Appendicectomy for experimental appendicitis ameliorated colitis. The risk of colorectal neoplasia appeared to increase following appendicectomy without induced appendicitis in a mouse model of colitis, and in patients with UC who had undergone appendicectomy. Surgical relevance Appendicectomy for appendicitis protects against UC. In this murine model of colitis, appendicectomy for experimental appendicitis protected against colitis, but appendicectomy without appendicitis promoted

  14. Meningeous sarcoma: a rare tumor among the central nervous system neoplasia in childhood; Sarcoma meningeo: rara entidade dentre as neoplasias de sistema nervoso central na infancia

    Energy Technology Data Exchange (ETDEWEB)

    Rondinelli, Patricia Imperatriz Porto; Salvajoli, Joao Victor; Sredni, Simone Treiger; Araujo, Maria Betania Mahler [Hospital do Cancer de Sao Paulo, SP (Brazil). Dept. de Pediatria

    2003-07-01

    We describe a case of meningeous malignancy in childhood, diagnosed by the Pediatric Department of the Cancer Hospital in Sao Paulo, Brazil, and do revise the world literature as well. The meningeous sarcoma (M S) is an extremely aggressive tumor, which appears in the central nervous system, at any age, but mainly in children. They represent a tiny percentage of brain tumors in children and sporadic cases are related in the world literature. Consequently, there are not enough clinical experiences about this distinct entity to allow the conclusion about which is the best therapeutic approach. (author)

  15. Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.

    Science.gov (United States)

    Mitropoulos, Konstantinos; Merkouri Papadima, Eleni; Xiromerisiou, Georgia; Balasopoulou, Angeliki; Charalampidou, Kyriaki; Galani, Vasiliki; Zafeiri, Krystallia-Vassiliki; Dardiotis, Efthymios; Ralli, Styliani; Deretzi, Georgia; John, Anne; Kydonopoulou, Kyriaki; Papadopoulou, Elpida; di Pardo, Alba; Akcimen, Fulya; Loizedda, Annalisa; Dobričić, Valerija; Novaković, Ivana; Kostić, Vladimir S; Mizzi, Clint; Peters, Brock A; Basak, Nazli; Orrù, Sandro; Kiskinis, Evangelos; Cooper, David N; Gerou, Spyridon; Drmanac, Radoje; Bartsakoulia, Marina; Tsermpini, Evangelia-Eirini; Hadjigeorgiou, Georgios M; Ali, Bassam R; Katsila, Theodora; Patrinos, George P

    2017-12-08

    Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted a next-generation sequencing approach to Greek patients suffering from sporadic ALS (together with their healthy counterparts) in order to explore further the genetic basis of sporadic ALS (sALS). Whole-genome sequencing analysis of Greek sALS patients revealed a positive association between FTO and TBC1D1 gene variants and sALS. Further, linkage disequilibrium analyses were suggestive of a specific disease-associated haplotype for FTO gene variants. Genotyping for these variants was performed in Greek, Sardinian, and Turkish sALS patients. A lack of association between FTO and TBC1D1 variants and sALS in patients of Sardinian and Turkish descent may suggest a founder effect in the Greek population. FTO was found to be highly expressed in motor neurons, while in silico analyses predicted an impact on FTO and TBC1D1 mRNA splicing for the genomic variants in question. To our knowledge, this is the first study to present a possible association between FTO gene variants and the genetic etiology of sALS. In addition, the next-generation sequencing-based genomics approach coupled with the two-step validation strategy described herein has the potential to be applied to other types of human complex genetic disorders in order to identify variants of clinical significance.

  16. Seasonal variability and descent of mid-latitude sporadic E layers at Arecibo

    Directory of Open Access Journals (Sweden)

    N. Christakis

    2009-03-01

    Full Text Available Sporadic E layers (Es follow regular daily patterns in variability and altitude descent, which are determined primarily by the vertical tidal wind shears in the lower thermosphere. In the present study a large set of sporadic E layer incoherent scatter radar (ISR measurements are analyzed. These were made at Arecibo (Geog. Lat. ~18° N; Magnetic Dip ~50° over many years with ISR runs lasting from several hours to several days, covering evenly all seasons. A new methodology is applied, in which both weak and strong layers are clearly traced by using the vertical electron density gradient as a function of altitude and time. Taking a time base equal to the 24-h local day, statistics were obtained on the seasonal behavior of the diurnal and semidiurnal tidal variability and altitude descent patterns of sporadic E at Arecibo. The diurnal tide, most likely the S(1,1 tide with a vertical wavelength around 25 km, controls fully the formation and descent of the metallic Es layers at low altitudes below 110 km. At higher altitudes, there are two prevailing layers formed presumably by vertical wind shears associated mainly with semidiurnal tides. These include: 1 a daytime layer starting at ~130 km around midday and descending down to 105 km by local midnight, and 2 a less frequent and weaker nighttime layer which starts prior to midnight at ~130 km, descending downwards at somewhat faster rate to reach 110 km by sunrise. The diurnal and semidiurnal-like pattern prevails, with some differences, in all seasons. The differences in occurrence, strength and descending speeds between the daytime and nighttime upper layers are not well understood from the present data alone and require further study.

  17. Transarterial ethanol ablation for sporadic and non-hemorrhaging angiomyolipoma in the kidney

    Energy Technology Data Exchange (ETDEWEB)

    Takebayashi, Shigeo [Department of Radiology, Yokohama City University Medical Center, 4-57, Urafune-cho, Minami-ku, Yokohama 232-0024 (Japan)], E-mail: take2922@urahp.yokohama-cu.ac.jp; Horikawa, Ayumi; Arai, Mito; Iso, Shinichiroh [Department of Radiology, Yokohama City University Medical Center, 4-57, Urafune-cho, Minami-ku, Yokohama 232-0024 (Japan); Noguchi, Kazumi [Department of Urology, Yokohama City University Medical Center, Yokohama (Japan)

    2009-10-15

    Purpose: We evaluated the efficacy and side effects of transarterial ethanol ablation in sporadic and non-hemorrhaging angiomyolipomas (AMLs) in the kidney. Material and Methods: A total of 10 patients with solitary and sporadic AMLs underwent selective transarterial absolute ethanol ablation for prophylaxis against hemorrhage. We confirmed the ratio areas of tumor vessel on angiogram, those of infraction on post-ablation computed tomography (CT) and those of tumor reduction in a 3-, 6- and 12-month follow-up CT. Results: Once or twice a single infusion of 1 or 2 ml absolute ethanol achieved in a total occlusion of 22 feeding arteries which consisted of 7 proximal interlobar arteries, 12 distal interlobar arteries and 3 renal capsular arteries. Nontarget occlusion did not occur by ethanol reflux in any cases but occurred causing spasms provoked by repeated inflation and deflation of the balloon in one case. Total occlusion of tumor vessels was observed in 7 patients and 92-95% occlusion in 3. Ethanol ablation produced 1.8-22.5% (mean 8.4 {+-} 6.8%) areas of infarctions but the outcome was not serious in all cases. Mean percentage areas of tumor reduction were 29.4 {+-} 10.6% in a 3-month follow-up, 45.7 {+-} 11.9% in a 6-month and 59.3 {+-} 11.5% in a 12-month follow-up. Conclusions: Absolute ethanol ablation for sporadic and non-hemorrhaging AML is safe and effective in reducing majority of tumor area in a 1-year follow-up.

  18. Prevalence of mitochondrial DNA mutations in sporadic patients with nonsyndromic sensorineural hearing loss.

    Science.gov (United States)

    Jiang, Hua; Chen, Jia; Li, Ying; Lin, Peng-Fang; He, Jian-Guo; Yang, Bei-Bei

    2016-01-01

    Several mitochondrial DNA mutations have been reported to be associated with nonsyndromic hearing loss in several families. However, little is known about the prevalence of these mutations in sporadic patients with nonsyndromic sensorineural hearing loss. The purpose of our study was to investigate the incidence of these mitochondrial DNA mutations in such population. A total of 178 sporadic patients with nonsyndromic sensorineural hearing loss were enrolled in this study. Genomic DNA was extracted from the peripheral blood sample. We employed the SNaPshot(®) sequencing method to detect five mitochondrial DNA mutations, including A1555G and A827G in 12S rRNA gene and A7445G, 7472insC, and T7511C in tRNA(Ser(UCN)) gene. Meanwhile, we used polymerase chain reaction and sequenced the products to screen GJB2 gene mutations in patients carrying mitochondrial DNA mutations. We failed to detect the presence of A1555G mutation in 12S rRNA gene, and of A7445G, 7472insC, T7511C mutations in tRNA(Ser(UCN)) gene in our population. However, we found that 6 patients (3.37%) were carriers of a homozygous A827G mutation and one of them also carried homozygous GJB2 235delC mutation. Our findings in the present study indicate that even in sporadic patients with nonsyndromic sensorineural hearing loss, mitochondrial DNA mutations might also contribute to the clinical phenotype. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  19. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Ulrike Esslinger

    Full Text Available Dilated cardiomyopathy (DCM is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS to assess the contribution of missense variants to sporadic DCM.116,855 single nucleotide variants (SNVs were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01. The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01 demonstrated significant association for TTN variants only (P = 0.0085. All candidate genes but one (SLC39A8 exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033 or common (n = 36, P = 0.019 variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology.

  20. Seasonal variability and descent of mid-latitude sporadic E layers at Arecibo

    Directory of Open Access Journals (Sweden)

    N. Christakis

    2009-03-01

    Full Text Available Sporadic E layers (Es follow regular daily patterns in variability and altitude descent, which are determined primarily by the vertical tidal wind shears in the lower thermosphere. In the present study a large set of sporadic E layer incoherent scatter radar (ISR measurements are analyzed. These were made at Arecibo (Geog. Lat. ~18° N; Magnetic Dip ~50° over many years with ISR runs lasting from several hours to several days, covering evenly all seasons. A new methodology is applied, in which both weak and strong layers are clearly traced by using the vertical electron density gradient as a function of altitude and time. Taking a time base equal to the 24-h local day, statistics were obtained on the seasonal behavior of the diurnal and semidiurnal tidal variability and altitude descent patterns of sporadic E at Arecibo. The diurnal tide, most likely the S(1,1 tide with a vertical wavelength around 25 km, controls fully the formation and descent of the metallic Es layers at low altitudes below 110 km. At higher altitudes, there are two prevailing layers formed presumably by vertical wind shears associated mainly with semidiurnal tides. These include: 1 a daytime layer starting at ~130 km around midday and descending down to 105 km by local midnight, and 2 a less frequent and weaker nighttime layer which starts prior to midnight at ~130 km, descending downwards at somewhat faster rate to reach 110 km by sunrise. The diurnal and semidiurnal-like pattern prevails, with some differences, in all seasons. The differences in occurrence, strength and descending speeds between the daytime and nighttime upper layers are not well understood from the present data alone and require further study.