Diagnostic evaluation of left-sided prosthetic heart valve dysfunction

NARCIS (Netherlands)

Habets, Jesse; Budde, Ricardo P.; Symersky, Petr; van den Brink, Renee B.; de Mol, Bas A.; Mali, Willem P.; van Herwerden, Lex A.; Chamuleau, Steven A.

2011-01-01

Prosthetic heart valve (PHV) dysfunction is a rare, but potentially life-threatening, complication. In clinical practice, PHV dysfunction poses a diagnostic dilemma. Echocardiography and fluoroscopy are the imaging techniques of choice and are routinely used in daily practice. However, these

Multiple sclerosis - etiology and diagnostic potential

Directory of Open Access Journals (Sweden)

Joanna Kamińska

2017-06-01

Full Text Available Multiple sclerosis (MS is a chronic inflammatory and demyelinating disease of autoimmune originate. The main agents responsible for the MS development include exogenous, environmental, and genetic factors. MS is characterized by multifocal and temporally scattered central nervous system (CNS damage which lead to the axonal damage. Among clinical courses of MS it can be distinguish relapsing-remitting multiple sclerosis (RRMS, secondary progressive multiple sclerosis (SPSM, primary progressive multiple sclerosis (PPMS, and progressive-relapsing multiple sclerosis (RPMS. Depending on the severity of signs and symptoms MS can be described as benign MS or malignant MS. MS diagnosis is based on McDonald’s diagnostic criteria, which link clinical manifestation with characteristic lesions demonstrated by magnetic resonance imaging (MRI, cerebrospinal fluid (CSF analysis, and visual evoked potentials. Among CSF laboratory tests used to the MS diagnosis are applied: Tibbling & Link IgG index, reinbegrams, and CSF isoelectrofocusing for oligoclonal bands detection. It should be emphasized, that despite huge progress regarding MS as well as the availability of differentdiagnostics methods this disease is still a diagnostic challenge. It may result from fact that MS has diverse clinical course and there is a lack of single test, which would be of appropriate diagnostic sensitivity and specificity for quick and accurate diagnosis.

Rare lung cancers

International Nuclear Information System (INIS)

Berzinec, P.

2013-01-01

The RARECARE Project (Rare Cancers in the Europe) supported by the European Union defined the rare cancers by the incidence rate of less than 6/100 000. There are several variants of lung cancer which are rare according to this definition. From the clinical point of view the most interesting are the rare adenocarcinomas and large cell neuroendocrine carcinoma. There are important differences in the diagnostic probability of EGFR and ALK mutations in the mutinous and non-mucin ous adenocarcinomas, in the signet ring cell adenocarcinomas, and large cell carcinomas. The optimal chemotherapy for neuroendocrine large cell carcinomas remains undefined. There is only very limited number of clinical trials aimed on the rare lung cancers and actually none phase III trial. Rare lung cancers continue to be a challenge both for the laboratory and the clinical research. (author)

Diagnostic study about lanthanides (rare earths)

International Nuclear Information System (INIS)

Ribeiro, G.F.

1985-01-01

The world situation of rare earths (lanthanides) is evaluated, and a comparison of the Brazilian situation in respect to other countries is established, concerning the following aspects: geology of mineral deposits; main sources, uses, reserves and production; their consumption, prices and state-of-art of geological researches and industrial processes for physical and chemical separation / concentration of these elements. (C.L.B.) [pt

Zebra: searching for rare diseases

DEFF Research Database (Denmark)

Dragusin, Radu; Petcu, Paula; Lioma, Christina

2012-01-01

disease diagnostic hypotheses in the domain of medical IR. In this work, we build upon an existing vertical medical search engine, Zebra, that is focused on rare disease diagnosis. In previous work, Zebra has been evaluated using real-life medical cases of rare and difficult diseases, and has been found...

New technology for ultrasensitive detection and isolation of rare cells for clinical diagnostics and therapeutics

Science.gov (United States)

Leary, James F.; McLaughlin, Scott R.

1995-04-01

A high-speed, 11-parameter, 6-color fluorescence, laser flow cytometer/cell sorter with a number of special and unique features has been built for ultrasensitive detection and isolation of rare cells for clinical diagnostics and therapeutics. The software for real-time data acquisition and sort control, written as C++ programming language modules with a WindowsTM graphical user interface, runs on a 66-MHz 80486 computer joined by an extended bus to 23 sophisticated multi-layered boards of special data acquisition and sorting electronics. Special features include: high-speed (> 100,000 cells/sec) real-time data classification module (U.S. Patent 5,204,884 (1993)); real-time principal component cell sorting; multi-queue signal-processing system with multiple hardware and software event buffers to reduce instrument dead time, LUT charge-pulse definition, high-resolution `flexible' sorting for optimal yield/purity sort strategies (U.S. Patent 5,199,576); pre-focusing optical wavelength correction for a second laser beam; and two trains of three fluorescence detectors-- each adjustable for spatial separation to interrogate only one of two laser beams, syringe- driven or pressure-driven fluidics, and time-windowed parameters. The system has been built to be both expandable and versatile through the use of LUT's and a modular hardware and software design. The instrument is especially useful at detection and isolation of rare cell subpopulations for which our laboratory is well-known. Cell subpopulations at frequencies as small as 10-7 have been successfully studied with this system. Current applications in clinical diagnostics and therapeutics include detection and isolation of (1) fetal cells from material blood for prenatal diagnosis of birth defects, (2) hematopoietic stem and precursor cells for autologous bone marrow transplantation, (3) metastatic breast cancer cells for molecular characterization, and (4) HIV-infected maternal cells in newborn blood to study mother

Alaska's rare earth deposits and resource potential

Science.gov (United States)

Barker, James C.; Van Gosen, Bradley S.

2012-01-01

Alaska’s known mineral endowment includes some of the largest and highest grade deposits of various metals, including gold, copper and zinc. Recently, Alaska has also been active in the worldwide search for sources of rare earth elements (REE) to replace exports now being limitedby China. Driven by limited supply of the rare earths, combined with their increasing use in new ‘green’ energy, lighting, transportation, and many other technological applications, the rare earth metals neodymium, europium and, in particular, the heavy rare earth elements terbium, dysprosium and yttrium are forecast to soon be in critical short supply (U.S. Department of Energy, 2010).

Solitary fibrous tumor: A center's experience and an overview of the symptomatology, the diagnostic and therapeutic procedures of this rare tumor

Directory of Open Access Journals (Sweden)

Wolfgang Hohenforst-Schmidt

2017-01-01

Full Text Available Solitary Fibrous Tumor of the Pleura (SFTP is a rare tumor of the pleura. Worldwide about 800 patients diagnosed with this oncological entity have been described in the existing literature. We report our center's 13 year experience. During this time three patients suffering from this rare disease have been treated in our department. All patients were asymptomatic and their diagnosis was initially triggered by a random finding in a routine chest x-ray. The diagnosis was set preoperatively through a needle biopsy under computer tomography (CT guidance. The tumors were resected surgically though video-assisted thoracoscopic surgery (VATS or thoracotomy. Because of the lack of specific guidelines due to the rarity of the disease a long-term, systematic follow-up was recommended and performed. Parallel an overview of the diagnostic and therapeutic procedures of the rare tumor is made.

On a Rare Cutaneous Metastasis from a Sacrococcygeal Chordoma

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Alessandro D’Amuri

2017-01-01

Full Text Available Chordomas are rare malignant tumors of notochordal origin and are rare locally aggressive ones with a metastatic potential. The skin rarely is seen as metastatic site. We describe a case of an adult woman with cutaneous metastasis of a primary sacral chordoma excised ten years before, which appeared as a painless cutaneous mass located in the dorsal region. Once removed, the surgical specimen was formalin fixed and in paraffin embedded. Sections were stained with haematoxylin-eosin, and histochemical and immunohistochemical investigations were performed. Histologically, the neoplasia was characterized by cords or single tumor cells with an abundant myxoid stroma, conspicuous pale vacuolated cytoplasm (the classic “physaliphorous cells”, and mild nuclear atypia. Mitotic activity was scanty. At immunohistochemistry, the tumor cells were diffusely positive for S-100 protein, pan-keratins, EMA, and vimentin. A diagnosis of cutaneous metastasis of chordoma was performed. This case illustrates a diagnostic challenge because of the unusual presentation of an already rare tumor.

An economic evaluation of the use of rare-earth screens to reduce the radiation dose from diagnostic x-ray procedures in Israel

International Nuclear Information System (INIS)

Ginzburg, G.M.; Schlesinger, T.; Ben-Shlomo, A.

1996-01-01

In contrasts, reducing the patient dose by using improved radiology equipment will often result in a constant reduction without further managerial effort for the lifetime of the equipment. Changing equipment is administratively far easier than altering long-established work practices. There are several methods available to achieve dose reduction in diagnostic radiology via this second category. For example, dose reductions of between 10% and 20% can be achieved independently by reducing attenuation between patient and image receptor to a minimum by means of carbon fiber components in couch tops, cassette fronts and anti-scatter grids [13-15]. Radiation dosage in film radiography can be reduced by approximately 50% by the use of rare- earth screens, which enable a faster film speed to be utilized (thus reducing exposure time) without significant loss in the diagnostic quality of the image. Rare-earth screens have been found in England to be the most cost-effective method of reducing dosage in film radiography, providing large dose reductions at considerably lower costs than carbon fiber components (authors)

An economic evaluation of the use of rare-earth screens to reduce the radiation dose from diagnostic x-ray procedures in Israel

Energy Technology Data Exchange (ETDEWEB)

Ginzburg, G M [Ministry of Health, Tel Aviv (Israel); Schlesinger, T; Ben-Shlomo, A [Israel Atomic Energy Commission, Yavne (Israel). Soreq Nuclear Research Center

1996-12-01

In contrasts, reducing the patient dose by using improved radiology equipment will often result in a constant reduction without further managerial effort for the lifetime of the equipment. Changing equipment is administratively far easier than altering long-established work practices. There are several methods available to achieve dose reduction in diagnostic radiology via this second category. For example, dose reductions of between 10% and 20% can be achieved independently by reducing attenuation between patient and image receptor to a minimum by means of carbon fiber components in couch tops, cassette fronts and anti-scatter grids [13-15]. Radiation dosage in film radiography can be reduced by approximately 50% by the use of rare- earth screens, which enable a faster film speed to be utilized (thus reducing exposure time) without significant loss in the diagnostic quality of the image. Rare-earth screens have been found in England to be the most cost-effective method of reducing dosage in film radiography, providing large dose reductions at considerably lower costs than carbon fiber components (authors).

A preterm infant with intestinal lymphangiectasia: a diagnostic dilemma.

Science.gov (United States)

McDonald, Karen Q; Bears, Christina M

2009-01-01

Intestinal lymphangiectasia (IL) is a potentially fatal disorder of the lymphatic system if it is not recognized and proper treatment initiated. The disease is characterized by lymphocytopenia, peripheral edema, and hypoalbuminemia. Because IL is a rare disease, the symptoms, diagnostic workup, and treatment are unfamiliar to many clinicians. Current literature documents only a few reported cases of IL in a preterm infant. This case report of a preterm infant reviews history, symptomatology, and the diagnostic workup performed. The steps in making the diagnosis, the treatment, and the prognosis of this condition are also presented.

Antibody Arrays Identify Potential Diagnostic Markers of Hepatocellular Carcinoma

Directory of Open Access Journals (Sweden)

Brian J. Peter

2008-01-01

Full Text Available Hepatocellular carcinoma (HCC is the third leading cause of cancer deaths worldwide. Effective treatment of HCC patients is hampered by the lack of sensitive and specific diagnostic markers of HCC. Alpha-fetoprotein (AFP, the currently used HCC marker, misses 30%–50% of HCC patients, who therefore remain undiagnosed and untreated. In order to identify novel diagnostic markers that can be used individually or in combination with AFP, we used an antibody array platform to detect the levels of candidate proteins in the plasma of HCC patients (n = 48 and patients with chronic hepatitis B or C viral infections (n = 19 (both of which are the major risk factors of HCC. We identified 7 proteins that significantly differentiate HCC patients from hepatitis patients (p < 0.05 (AFP, CTNNB, CSF1, SELL, IGFBP6, IL6R, and VCAM1.Importantly, we also identified 8 proteins that significantly differentiate HCC patients with ‘normal’ levels of AFP (<20 ng/ml from hepatitis patients (p < 0.05 (IL1RN, IFNG, CDKN1A, RETN, CXCL14, CTNNB, FGF2, and SELL. These markers are potentially important complementary markers to AFP. Using an independent immunoassay method in an independent group of 23 HCC patients and 22 hepatitis patients, we validated that plasma levels of CTNNB were significantly higher in the HCC group (p = 0.020. In conclusion, we used an antibody array platform to identify potential circulating diagnostic markers of HCC, some of which may be valuable when used in combination with AFP. The clinical utility of these newly identified HCC diagnostic markers needs to be systematically evaluated.

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.

Science.gov (United States)

Baynam, Gareth; Pachter, Nicholas; McKenzie, Fiona; Townshend, Sharon; Slee, Jennie; Kiraly-Borri, Cathy; Vasudevan, Anand; Hawkins, Anne; Broley, Stephanie; Schofield, Lyn; Verhoef, Hedwig; Walker, Caroline E; Molster, Caron; Blackwell, Jenefer M; Jamieson, Sarra; Tang, Dave; Lassmann, Timo; Mina, Kym; Beilby, John; Davis, Mark; Laing, Nigel; Murphy, Lesley; Weeramanthri, Tarun; Dawkins, Hugh; Goldblatt, Jack

2016-06-11

The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government clinical services delivered through Genetic Services of Western Australia (GSWA). GSWA has provided a state-wide service for clinical genetic care for 28 years and it serves a population of 2.5 million people across a geographical area of 2.5milion Km(2). Within this context, GSWA has established a clinically integrated genomic diagnostic platform in partnership with other public health system managers and service providers, including but not limited to the Office of Population Health Genomics, Diagnostic Genomics (PathWest Laboratories) and with executive level support from the Department of Health. Herein we describe report presents the components of this service that are most relevant to the heterogeneity of paediatric clinical genetic care. Briefly the platform : i) offers multiple options including non-genetic testing; monogenic and genomic (targeted in silico filtered and whole exome) analysis; and matchmaking; ii) is delivered in a patient-centric manner that is resonant with the patient journey, it has multiple points for entry, exit and re-entry to allow people access to information they can use, when they want to receive it; iii) is synchronous with precision phenotyping methods; iv) captures new knowledge, including multiple expert review; v) is integrated with current translational genomic research activities and best practice; and vi) is designed for flexibility for interactive generation of, and integration with, clinical research for diagnostics, community engagement, policy and models of care. The RUDDS has been established as part of routine clinical genetic services and is thus sustainable, equitably managed and seeks to translate new knowledge into efficient diagnostics and improved health for the whole community.

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

Directory of Open Access Journals (Sweden)

Emil Lou

2012-06-01

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

Gene transcripts as potential diagnostic markers for allergic contact dermatitis

DEFF Research Database (Denmark)

Hansen, Malene Barré; Skov, Lone; Menné, Torkil

2005-01-01

The standard procedure for diagnosing allergic contact dermatitis is to perform a patch test. Because this has several disadvantages, the development of a new in vitro test system would be of immense value. Gene transcripts that distinguish allergics from non-allergics may have the potential...... widely available. The 26 differentially expressed genes identified in this study may potentially function as diagnostic markers for contact sensitivity....

SDQ: Discriminative validity and diagnostic potential

Directory of Open Access Journals (Sweden)

Thaysa Brinck Fernandes Silva

2015-06-01

Full Text Available The Strengths and Difficulties Questionnaire (SDQ was designed to screen for behavioral problems in youths based on cutoff points that favor the instrument’s diagnostic sensitivity. The present study aimed to analyze the discriminative validity of the SDQ to identify behavioral difficulties and prosocial resources in school-age children compared with the diagnostic data collected by the corresponding sections of the Development and Well-being Assessment (DAWBA. In addition, new cutoff points that value specificity were defined for the SDQ scales, exploring its diagnostic potential. This study was conducted in Brazil and assessed a community convenience sample that consisted of 120 children aged 6 to 12 years who were not under psychological/psychiatric treatment. The mothers of the participants also completed a sociodemographic questionnaire. Descriptive statistics were used to clinically characterize the sample. A ROC curve was used to assess the discriminant validity of the SDQ, and new cutoff points were established to maximize the instrument’s specificity. The new cutoff points enabled a significant increase in specificity without a significant loss of sensitivity, which favors approaches based on measures of screening and diagnosis yet does not damage the instrument’s screening capacity. The following increases were observed: 100% for the depressive disorder scale (cutoff point=7, 95.1% for the generalized anxiety disorder scale (cutoff point=7, 46.6% for the conduct disorder scale (cutoff point=6, 19.2% for the hyperactive disorder scale (cutoff point=8, and 27.6% for the antisocial personality disorder scale (cutoff point=6. A cutoff point of 8 was applied to the prosocial behavior scale, which exhibited a 62.1% increase in specificity. The use of more specific cutoff points generated more accurate results and favored SDQ's use, particularly in contexts of care that require more precise and faster procedures for identification of

Development of technique for diagnostics of social reserves of development of collective labour potential

OpenAIRE

Голубєв, Станіслав Миколайович

2015-01-01

The problems of diagnostics of social reserves of the collective labour potential are considered in the article. The aim of this study is to develop diagnostic techniques of social reserves of the collective labour potential in the work and the essence of the concept of "social reserves" as a subject of study of economics and their features in the study of collective labour potential. The use of these reserves can increase the efficiency of the labour collective processes by improving coopera...

Discovery of rare, diagnostic AluYb8/9 elements in diverse human populations.

Science.gov (United States)

Feusier, Julie; Witherspoon, David J; Scott Watkins, W; Goubert, Clément; Sasani, Thomas A; Jorde, Lynn B

2017-01-01

Polymorphic human Alu elements are excellent tools for assessing population structure, and new retrotransposition events can contribute to disease. Next-generation sequencing has greatly increased the potential to discover Alu elements in human populations, and various sequencing and bioinformatics methods have been designed to tackle the problem of detecting these highly repetitive elements. However, current techniques for Alu discovery may miss rare, polymorphic Alu elements. Combining multiple discovery approaches may provide a better profile of the polymorphic Alu mobilome. Alu Yb8/9 elements have been a focus of our recent studies as they are young subfamilies (~2.3 million years old) that contribute ~30% of recent polymorphic Alu retrotransposition events. Here, we update our ME-Scan methods for detecting Alu elements and apply these methods to discover new insertions in a large set of individuals with diverse ancestral backgrounds. We identified 5,288 putative Alu insertion events, including several hundred novel Alu Yb8/9 elements from 213 individuals from 18 diverse human populations. Hundreds of these loci were specific to continental populations, and 23 non-reference population-specific loci were validated by PCR. We provide high-quality sequence information for 68 rare Alu Yb8/9 elements, of which 11 have hallmarks of an active source element. Our subfamily distribution of rare Alu Yb8/9 elements is consistent with previous datasets, and may be representative of rare loci. We also find that while ME-Scan and low-coverage, whole-genome sequencing (WGS) detect different Alu elements in 41 1000 Genomes individuals, the two methods yield similar population structure results. Current in-silico methods for Alu discovery may miss rare, polymorphic Alu elements. Therefore, using multiple techniques can provide a more accurate profile of Alu elements in individuals and populations. We improved our false-negative rate as an indicator of sample quality for future

A case of Carney complex misdiagnosed as neurofibromatosis type 1 – Diagnostic difficulty in a rare disease

Directory of Open Access Journals (Sweden)

Yoshitane Tsukamoto, MD, PhD

2017-11-01

Full Text Available We experienced a diagnostically challenging case of Carney complex (CNC. A 24-year-old woman had a past history of surgical removal of multiple cutaneous tumors in the childhood. She was followed as a patient of neurofibromatosis type 1 (NF1 and referred to our hospital for further treatment after she grew up to adulthood. At our hospital, several cutaneous tumors were excised, and the pathological diagnosis was myxoma arising from not deep soft tissue but cutis (so-called cutaneous myxoma. Despite previous clinical diagnosis of NF1, because of the probability of CNC, detailed systemic examination was undertaken including radiological and endocrinological tests. Imaging techniques showed multiple lumps in both breasts, a mass in left atrium and nodular lesions in adrenal glands. Serum ACTH level was markedly suppressed. Surgically resected specimens revealed breast myxomas, cardiac myxoma and primary pigmented nodular adrenocortical disease (PPNAD. These findings met the diagnostic criteria for CNC. Genetic analysis revealed known non-sense mutation of PRKAR1A c.124C>T (p.R42X (ClinVar ID 41382. Her 50-year-old mother was also shown to have cardiac myxomas, radiological finding of breast myxomatosis and the same PRKAR1A mutation as her daughter. In the present case, the accurate diagnosis of CNC was difficult not only because CNC is a rare disease but also because skin pigmentation was not obvious. Since cardiac myxoma might result in poor or fatal outcome, early and accurate diagnosis of CNC and subsequent systemic investigation including heart are important. Although pediatric cutaneous myxomas are rare, multiple cutaneous myxomas might suggest the possibility of CNC. In such cases, systemic investigation should be done for the accurate diagnosis.

POTENTIALITIES OF DIAGNOSTICS AND DIFFERENTIAL DIAGNOSTICS OF STOMACH DISEASES BY MEANS OF USAGE OF HIGH-PERFORMANCE BLOOD SERUM LIQUID CHROMATOGRAPHY

Directory of Open Access Journals (Sweden)

O.P. Alexeeva

2008-12-01

Full Text Available 62 patients with the endoscopically and morphologicallyverified diagnosis of the chronic gastritis, 89 patients with the morphologically verified diagnosis of stomach cancer and 43 healthy persons ages 23 to 54 years have been examined. Potentialities of the usage of high-performance blood serum liquid chromatography have been studied for the purpose of diagnostics and differential diagnostics of chronic gastritis and stomach cancer. Blood serum driedextract was investigated by means of"Milichrome A02"chromatograph (Novosibirsk, "Econova" joint-stock company. The chromatograms were treated by the multivahate cluster analysis with the formation of pathologic three-dimensional characteristic state notably differed from the healthy human image. Diagnostic sensitivity of chronic gastritis and stomach cancer acounts for accordingly 92% and 96%. Diagnostic accuracy of the method comes to 94%.

Gastric lactobezoar - a rare disorder?

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Heinz-Erian Peter

2012-01-01

Full Text Available Abstract Gastric lactobezoar, a pathological conglomeration of milk and mucus in the stomach of milk-fed infants often causing gastric outlet obstruction, is a rarely reported disorder (96 cases since its first description in 1959. While most patients were described 1975-1985 only 26 children have been published since 1986. Clinically, gastric lactobezoars frequently manifest as acute abdomen with abdominal distension (61.0% of 96 patients, vomiting (54.2%, diarrhea (21.9%, and/or a palpable abdominal mass (19.8%. Respiratory (23.0% and cardiocirculatory (16.7% symptoms are not uncommon. The pathogenesis of lactobezoar formation is multifactorial: exogenous influences such as high casein content (54.2%, medium chain triglycerides (54.2% or enhanced caloric density (65.6% of infant milk as well as endogenous factors including immature gastrointestinal functions (66.0%, dehydration (27.5% and many other mechanisms have been suggested. Diagnosis is easy if the potential presence of a gastric lactobezoar is thought of, and is based on a history of inappropriate milk feeding, signs of acute abdomen and characteristic features of diagnostic imaging. Previously, plain and/or air-, clear fluid- or opaque contrast medium radiography techniques were used to demonstrate a mass free-floating in the lumen of the stomach. This feature differentiates a gastric lactobezoar from intussusception or an abdominal neoplasm. Currently, abdominal ultrasound, showing highly echogenic intrabezoaric air trapping, is the diagnostic method of choice. However, identifying a gastric lactobezoar requires an investigator experienced in gastrointestinal problems of infancy as can be appreciated from the results of our review which show that in not even a single patient gastric lactobezoar was initially considered as a possible differential diagnosis. Furthermore, in over 30% of plain radiographs reported, diagnosis was initially missed although a lactobezoar was clearly

A rare case of peritonsillar abscess resulting in cervical necrotizing fasciitis

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Carmen E. Flores

2017-11-01

Conclusions: Necrotizing fasciitis of the head and neck demands a high index of suspicion involving a multidisciplinary team, rapid diagnostic measures and aggressive surgical and antibiotic management as the mainstay of treatment in reversing this potentially fulminant and lethal disease process. In this rare case of peritonsillar abscess resulting in cervical necrotizing fasciitis, the infection spread across cervical fascial planes onto the anterior chest wall rather than dissecting as usual to the parapharyngeal, retropharyngeal spaces or mediastinum. Extensive and potentially disfiguring debridements may be necessary to obtain negative margins with frequent reoperations until the patient is ready for reconstruction.

Ethical and social aspects on rare diseases

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Krajnović Dušanka

2012-01-01

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

Brain natriuretic peptide: Diagnostic potential in dogs

Directory of Open Access Journals (Sweden)

Spasojević-Kosić Ljubica

2009-01-01

Full Text Available The endocrine role of the heart is evident in the secretion of noradrenaline and natriuretic peptides. The secretion of natriuretic peptides presents a useful mechanism for different conditions of cardiac dysfunction. Brain natriuretic peptide (BNP has been accepted in human cardiology as a biomarker for cardiac insufficiency and coronary arterial disease. The specificity of the BNP structure is specie-specific, so that the testing of diagnostic and prognostic potential in dogs requires the existence of a test that is a homologue for that animal specie. The existence of an adequate method for measuring BNP concentration makes possible its implementation as a screening test in everyday clinical practice. .

Rare gases transition probabilities for plasma diagnostics

International Nuclear Information System (INIS)

Katsonis, K.; Siskos, A.; Ndiaye, A.; Clark, R.E.H.; Cornille, M.; Abdallah, J. Jr

2005-01-01

Emission spectroscopy is a powerful optical diagnostics tool which has been largely used in studying and monitoring various industrial, laboratory and natural plasmas. As these plasmas are rarely in Local Thermodynamic Equilibrium (LTE) a prerequisite of satisfactory evaluation of the plasma electron density n e and temperature T e is the existence of a detailed Collisional-Radiative (C-R) model taking into account the main physical processes influencing the plasma state and dynamics of its main constituents. The theoretical spectra which such a model generates match the experimental ones whenever the experimental values of ne and T e are introduced. In practice, in validating such models, discrepancies are observed which often are due to the atomic data included in the C-R model. In generating theoretical spectra pertaining to each atom(ion) multiplet, the most sensible atomic data are the relevant transition probabilities A j→i and electron collision excitation cross sections σ i→j . We note that the latter are actually poorly known, especially for low ionization stages and near the excitation threshold. We address here the evaluation of the former, especially of the A j→i of the Ar 2+ ion responsible for the Ar III spectra and of those of the Xe 2+ ion which are evaluated in an analogous way. Extensive studies of the Ar III and Xe III spectra exist, but the present status of Aj i cannot be considered sufficient for the generation of the theoretical spectra even of the most prominent visible lines coming from the Ar III multiplets 4s - 4p, 5p (corresponding to the well known '' red '' and 'blue' lines of Ar I) 4p - 4d, 5d and 3p - 4s, 5s (resonant) and the analogous Xe III multiplets (which have principal quantum numbers increased by two). Due to the gap observed in the Grotrian diagrams, the resonant lines which, together with the important metastable ones, belong to the 3p - 4s, 5s multiplets, (5p - 6s, 7s for Xe III), give spectra in the UV region. On

Diagnostic radiation and pregnancy

International Nuclear Information System (INIS)

Collins, L.; Fitzgerald, P.

1983-01-01

Accidental irradiation of the embryo or fetus in the first trimester is a problem which will occasionally occur. The value of a proper estimation of the radiation dose is emphasised. Very rarely does a single diagnostic procedure result in a uterine dose as high as 50 mGy. An accidental irradiation should rarely be cause for termination of a pregnancy

Diagnostic Error in Correctional Mental Health: Prevalence, Causes, and Consequences.

Science.gov (United States)

Martin, Michael S; Hynes, Katie; Hatcher, Simon; Colman, Ian

2016-04-01

While they have important implications for inmates and resourcing of correctional institutions, diagnostic errors are rarely discussed in correctional mental health research. This review seeks to estimate the prevalence of diagnostic errors in prisons and jails and explores potential causes and consequences. Diagnostic errors are defined as discrepancies in an inmate's diagnostic status depending on who is responsible for conducting the assessment and/or the methods used. It is estimated that at least 10% to 15% of all inmates may be incorrectly classified in terms of the presence or absence of a mental illness. Inmate characteristics, relationships with staff, and cognitive errors stemming from the use of heuristics when faced with time constraints are discussed as possible sources of error. A policy example of screening for mental illness at intake to prison is used to illustrate when the risk of diagnostic error might be increased and to explore strategies to mitigate this risk. © The Author(s) 2016.

FindZebra: A search engine for rare diseases

DEFF Research Database (Denmark)

Dragusin, Radu; Petcu, Paula; Lioma, Christina Amalia

2013-01-01

Background: The web has become a primary information resource about illnesses and treatments for both medical and non-medical users. Standard web search is by far the most common interface for such information. It is therefore of interest to find out how well web search engines work for diagnostic...... approach for web search engines for rare disease diagnosis which includes 56 real life diagnostic cases, state-of-the-art evaluation measures, and curated information resources. In addition, we introduce FindZebra, a specialized (vertical) rare disease search engine. FindZebra is powered by open source...... medical concepts to demonstrate different ways of displaying the retrieved results to medical experts. Conclusions: Our results indicate that a specialized search engine can improve the diagnostic quality without compromising the ease of use of the currently widely popular web search engines. The proposed...

Diagnostic evaluation of rare lesions of the arteria poplitea

International Nuclear Information System (INIS)

Schmitt, R.; Christopoulos, G.; Froehner, S.; Binder, F.; Schweiger, H.

2001-01-01

Clinical and radiological findings of six patients are discussed who, due to a specific pathology of the arteria poplitea, developed claudicatio primarily in the lower leg. Applying MS-CT and MRI, the following lesions of the arteria poplitea wer found: bilateral aneurysm verum (1 case), unilateral aneurysm spurium (1 case), the arteria magna syndrome (1 case), entrapment syndrome (2 cases), and cystic adventitia degeneration. The outstanding diagnostic value of MR angiography combined with MR imaging is explained. Good knowledge of the specific pathology of the arteria poplitea is pre-requisite of efficient diagnostic evaluation, and prevention of thromboembolic complications, or ineffective therapy. (orig./CB) [de

A Rare Cause of Abdominal Pain in Childhood: Cardiac Angiosarcoma

Directory of Open Access Journals (Sweden)

Elvan Caglar Citak

Full Text Available Abstract Cardiac angiosarcomas are extremely rare in childhood, they are rapidly progressive tumours that often present themselves as diagnostic dilemmas, resulting in delayed diagnosis. Also, extracardiac manifestations, including abdominal pain, are extremely rare in patients with intracardiac tumors. We herein present the case of a 15-year-old girl who presented with abdominal pain. Echocardiography and thoracic computed tomography showed right atrial mass. The patient underwent surgery, chemotherapy, and radiotherapy. Eight months after treatment, abdominal recurrence was detected. The abdominal mass was resected, and radiotherapy and new chemotherapy protocol were given. The present case illustrates a rare case of primary cardiac angiosarcoma posing a diagnostic dilemma in an adolescent girl.

Assessment of the Diagnostic Potential of Clinotech TB Screen Test ...

African Journals Online (AJOL)

The Clinotech TB Screen test, a 3rd generation multi-antigen rapid chromatographic immunoassay for detection of IgG antibodies in serum against recombinant protein antigens 38kDa, 16kDa and 6kDa, was assessed for its diagnostic potential for diagnosis of active pulmonary TB in routine TB control programme in Abia ...

Mammography with rare earth intensifying screens

International Nuclear Information System (INIS)

Maurer, H.J.; Goos, F.

1987-01-01

Screens basing on rare earth phosphors with suitable films green or blue sensitive may be used in mammography with grids without diagnostic losses. Highest definition will be obtained with medium densities on film. High-speed screens may reduce dose, but definition is poor. Best compromise between speed and high definition may be reached with relative low thickness of phosphor layers. A system of high definition films (Medichrome) and special rare earth screens give best results. (orig.) [de

The Importance of Rare Subtypes in Diagnosis and Treatment of Peripheral Neuropathy: A Review.

Science.gov (United States)

Callaghan, Brian C; Price, Raymond S; Chen, Kevin S; Feldman, Eva L

2015-12-01

Peripheral neuropathy is a prevalent condition that usually warrants a thorough history and examination but has limited diagnostic evaluation. However, rare localizations of peripheral neuropathy often require more extensive diagnostic testing and different treatments. To describe rare localizations of peripheral neuropathy, including the appropriate diagnostic evaluation and available treatments. References were identified from PubMed searches conducted on May 29, 2015, with an emphasis on systematic reviews and randomized clinical trials. Articles were also identified through the use of the authors' own files. Search terms included common rare neuropathy localizations and their causes, as well as epidemiology, pathophysiology, diagnosis, and treatment. Diffuse, nonlength-dependent neuropathies, multiple mononeuropathies, polyradiculopathies, plexopathies, and radiculoplexus neuropathies are rare peripheral neuropathy localizations that often require extensive diagnostic testing. Atypical neuropathy features, such as acute/subacute onset, asymmetry, and/or motor predominant signs, are frequently present. The most common diffuse, nonlength-dependent neuropathies are Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy, and amyotrophic lateral sclerosis. Effective disease-modifying therapies exist for many diffuse, nonlength-dependent neuropathies including Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy, and some paraprotein-associated demyelinating neuropathies. Vasculitic neuropathy (multiple mononeuropathy) also has efficacious treatment options, but definitive evidence of a treatment effect for IgM anti-MAG neuropathy and diabetic amyotrophy (radiculoplexus neuropathy) is lacking. Recognition of rare localizations of peripheral neuropathy is essential given the implications for diagnostic testing and treatment. Electrodiagnostic studies are an important

Clinical comparison of conventional and rare earth screen-film systems for cephalometric radiographs

International Nuclear Information System (INIS)

Kaugars, G.E.; Fatouros, P.

1982-01-01

This study compared cephalometric and P-A skull films taken with conventional (CaWO4) screens and rare earth screens. Patient exposure was reduced by 17 to 55 percent on two different x-ray machines by the use of rare earth screens. Results from 130 clinical evaluations showed that the diagnostic quality of radiographs taken with either system was roughly comparable. This presents a persuasive argument for the use of rare earth screens since the diagnostic quality of the films can be maintained while significantly reducing the patient's exposure to radiation

Rare Presentation of Left Lower Lobe Pulmonary Artery Dissection

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René Hako

2017-01-01

Full Text Available Background. Pulmonary arterial dissection with chronic pulmonary arterial hypertension as its major cause is a very rare but life-threatening condition. In most cases the main pulmonary trunk is the affected site usually without involvement of its branches. Segmental or lobar pulmonary artery dissection is extremely rare. Case Presentation. We report a unique case of left lower lobe pulmonary artery dissection in a 70-year-old male, with confirmed chronic pulmonary hypertension. To confirm dissection MDCT pulmonary angiography was used. Multiplanar reformation (MPR images in sagittal, coronal, oblique sagittal, and curved projections were generated. This case report presents morphologic CT features of rare chronic left lobar pulmonary artery dissection associated with chronic pulmonary hypertension at a place of localised pulmonary artery calcification. CT pulmonary angiography excluded signs of thromboembolism and potential motion or flow artefacts. Conclusion. To the best of our knowledge, no case of lower lobe pulmonary artery dissection with flap calcification has been reported yet. CT imaging of the chest is a key diagnostic tool that is able to detect an intimal flap and a false lumen within the pulmonary arterial tree and is preferred in differential diagnosis of rare complications of sustained pulmonary arterial hypertension.

A Rare Manifestation of Uveitis-glaucoma-hyphema Syndrome.

Science.gov (United States)

Sousa, David Cordeiro; Leal, Inês; Faria, Mun Yueh; Pinto, Luís Abegão

2016-01-01

To report a case of a patient who developed uveitis-glaucoma-hyphema (UGH) syndrome after an uneventful cataract surgery and to discuss risk factors, diagnostic challenges, management options, and clinical implications. Uveitis-glaucoma-hyphema syndrome is a rare but potentially serious cataract surgery complication. Clinical manifestations include increased intraocular pressure (IOP), anterior chamber inflammation, and recurrent hyphema or microhyphema. Uveitis-glaucoma-hyphema Plus syndrome also includes accompanying vitreous hemorrhage. Although classically associated with rigid anterior chamber intraocular lenses (lOLs), cases of malpositioning and subluxated posterior chamber lOLs have also been described as possible triggers. We report a case of a 70-year-old Caucasian man who developed UGH Plus syndrome after an uneventful cataract surgery with an lOL implanted in the capsular bag. During postoperative follow-up, persistent intraocular inflammation, increased IOP, hyphema, and vitreous hemorrhage were consistent with this diagnosis. Slit-lamp examination demonstrated progressive localized iris atrophy, compatible with chafing of the posterior iris by the IOL haptic as the trigger for UGH syndrome. A pars plana vitrectomy was performed and a retropupillary intraocular lens was implanted. No further complications occurred during follow-up. Given the increasing prevalence of single-piece lOLs implanted in the capsular bag, it is important to recognize UGH syndrome as a rare but potentially serious complication. How to cite this article: Sousa DC, Leal I, Faria MY, Pinto LA. A Rare Manifestation of Uveitis-glaucoma-hyphema Syndrome. J Curr Glaucoma Pract 2016;10(2):76-78.

Urethral Leiomyoma: A Rare Clinical Entity

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Ng Beng Kwang

2016-01-01

Full Text Available Extrauterine leiomyomas are encountered occasionally, which can pose a diagnostic dilemma and challenge to the gynaecologist. We report a rare case of urethral leiomyoma. A 31-year-old woman with history of primary subfertility presented with mass at her urethral meatus and lower urinary tract symptoms. She underwent examination under anaesthesia and excision of the urethral mass. Histopathological examination confirmed leiomyoma. Diagnosis and management of this common growth situated at a rare location were reviewed and discussed.

Proteomic identification of CIB1 as a potential diagnostic factor in ...

Indian Academy of Sciences (India)

Proteomic identification of CIB1 as a potential diagnostic factor in hepatocellular carcinoma. Tong Junrong Zhou Huancheng H E Feng Gao Yi Yang Xiaoqin Luo Zhengmao Zhang Hong Zeng Jianying Wang Yin Huang Yuanhang Zhang Jianlin Sun Longhua He Guolin. Articles Volume 36 Issue 4 September 2011 pp 659- ...

Realizing the therapeutic potential of rare earth elements in designing nanoparticles to target and treat glioblastoma.

Science.gov (United States)

Lu, Victor M; McDonald, Kerrie L; Townley, Helen E

2017-10-01

The prognosis of brain cancer glioblastoma (GBM) is poor, and despite intense research, there have been no significant improvements within the last decade. This stasis implicates the need for more novel therapeutic investigation. One such option is the use of nanoparticles (NPs), which can be beneficial due to their ability to penetrate the brain, overcome the blood-brain barrier and take advantage of the enhanced permeation and retention effect of GBM to improve specificity. Rare earth elements possess a number of interesting natural properties due to their unique electronic configuration, which may prove therapeutically advantageous in an NP formulation. The underexplored exciting potential for rare earth elements to augment the therapeutic potential of NPs in GBM treatment is discussed in this review.

FindZebra: a search engine for rare diseases.

Science.gov (United States)

Dragusin, Radu; Petcu, Paula; Lioma, Christina; Larsen, Birger; Jørgensen, Henrik L; Cox, Ingemar J; Hansen, Lars Kai; Ingwersen, Peter; Winther, Ole

2013-06-01

The web has become a primary information resource about illnesses and treatments for both medical and non-medical users. Standard web search is by far the most common interface to this information. It is therefore of interest to find out how well web search engines work for diagnostic queries and what factors contribute to successes and failures. Among diseases, rare (or orphan) diseases represent an especially challenging and thus interesting class to diagnose as each is rare, diverse in symptoms and usually has scattered resources associated with it. We design an evaluation approach for web search engines for rare disease diagnosis which includes 56 real life diagnostic cases, performance measures, information resources and guidelines for customising Google Search to this task. In addition, we introduce FindZebra, a specialized (vertical) rare disease search engine. FindZebra is powered by open source search technology and uses curated freely available online medical information. FindZebra outperforms Google Search in both default set-up and customised to the resources used by FindZebra. We extend FindZebra with specialized functionalities exploiting medical ontological information and UMLS medical concepts to demonstrate different ways of displaying the retrieved results to medical experts. Our results indicate that a specialized search engine can improve the diagnostic quality without compromising the ease of use of the currently widely popular standard web search. The proposed evaluation approach can be valuable for future development and benchmarking. The FindZebra search engine is available at http://www.findzebra.com/. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Continental shelves as potential resource of rare earth elements.

Science.gov (United States)

Pourret, Olivier; Tuduri, Johann

2017-07-19

The results of this study allow the reassessment of the rare earth elements (REE) external cycle. Indeed, the river input to the oceans has relatively flat REE patterns without cerium (Ce) anomalies, whereas oceanic REE patterns exhibit strong negative Ce anomalies and heavy REE enrichment. Indeed, the processes at the origin of seawater REE patterns are commonly thought to occur within the ocean masses themselves. However, the results from the present study illustrate that seawater-like REE patterns already occur in the truly dissolved pool of river input. This leads us to favor a partial or complete removal of the colloidal REE pool during estuarine mixing by coagulation, as previously shown for dissolved humic acids and iron. In this latter case, REE fractionation occurs because colloidal and truly dissolved pools have different REE patterns. Thus, the REE patterns of seawater could be the combination of both intra-oceanic and riverine processes. In this study, we show that the Atlantic continental shelves could be considered potential REE traps, suggesting further that shelf sediments could potentially become a resource for REE, similar to metalliferous deep sea sediments.

The Reproducibility Index of Pathological Diagnosis and Rare Cases. The Results of the On-line Diagnostic Competition “Final Diagnosis”

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Asel Kudaybergenova

2016-06-01

Full Text Available Introduction/ Background UNIM Ltd. have created the SAAS platform DPathology that can be used for saving and studying histological slides and it doesn’t require an installation of a special software. You can use the platform with all the modern internet browsers. The SAAS platform gives all the specialists a chance to analyze remotely digital histological slides. It increases the accuracy of diagnostics and speeds up the medical assessment Aims To indicate the importance of collecting rare cases and expert assessment via digital microscopy Using the Digital Pathology© platform to carry out educational and competitive diagnostic measures. Methods Fourteen rare cases from different sub-specializations field in pathology were selected by UNIM LTD with expert’s pathologists from the Czech Republic and Italy and additionally validated in Norwayand theUK (blind method. The slides were digitized and introduced withclinical information to 250 specialists registered to take part in the competition “Final diagnosis”©. Results The range of the totally correct answers varies between 3 and 56 percent. The most difficult case for the participants was the one with no tumorous pathology: ectopic hamartomatous thymoma [1]. There were 3 percent of full match. The biggest number of full match to experts’ diagnoses can be seen in the case: Grade 2 central chondrosarcoma with 72% of agreement. To analyze the disagreements we divided them in two groups: Mayor disagreement – potentially not correct histological diagnosis will change the clinical tactics of patient’s treatment (considering the malignant pathology as a benign pathology, considering the benign pathology as a malignant, changing the stage of disease. Potentially wrong pathological diagnosis leads to wrong course of patient’s treatment and wrong chemotherapy, etc. Minor disagreement – potentially incorrect diagnosis doesn’t have any clinical matter. This tactic showed that the case of

The bubbling neck: A rare complication from colonoscopy.

Science.gov (United States)

Andrejevic, P; Gatt, D

2012-04-01

A 70 year old lady presented to the emergency department complaining of "bubbling neck'' and abdominal discomfort. She underwent diagnostic colonoscopy six hours before admission. Clinical examination showed a haemodynamically stable patient and imaging revealed free air in all body compartments. We report a rare case of micro perforation during diagnostic colonoscopy with massive distribution of air in all body compartments, which was successfully treated conservatively. © JSCR.

Nephron-sparing surgery for treatment of reninoma: a rare renin secreting tumor causing secondary hypertension.

Science.gov (United States)

Torricelli, Fabio Cesar Miranda; Marchini, Giovanni Scala; Colombo, Jose Roberto; Coelho, Rafael Ferreira; Nahas, Willian Carlos; Srougi, Miguel

2015-01-01

A 25-year-old hypertensive female patient was referred to our institution. Initial workup exams demonstrated a 2.8 cm cortical lower pole tumor in the right kidney. She underwent laparoscopic partial nephrectomy without complications. Histopathologic examination revealed a rare juxtaglomerular cell tumor known as reninoma. After surgery, she recovered uneventfully and all medications were withdrawn. Case hypothesis: Secondary arterial hypertension is a matter of great interest to urologists and nephrologists. Renovascular hypertension, primary hyperadosteronism and pheocromocytoma are potential diagnosis that must not be forgotten and should be excluded. Although rare, chronic pyelonephritis and renal tumors as rennin-producing tumors, nephroblastoma, hypernephroma, and renal cell carcinoma might also induce hypertension and should be in the diagnostic list of clinicians. Promising future implications: Approximately 5% of patients with high blood pressure have specific causes and medical investigation may usually identify such patients. Furthermore, these patients can be successfully treated and cured, most times by minimally invasive techniques. This interesting case might expand knowledge of physicians and aid better diagnostic care in future medical practice.

Potential market for novel tuberculosis diagnostics: worth the investment?

Science.gov (United States)

Kik, Sandra V; Denkinger, Claudia M; Jefferson, Carole; Ginnard, Janet; Pai, Madhukar

2015-04-01

The potential available market (PAM) for new diagnostics for tuberculosis that meet the specifications of the high-priority target product profiles (TPPs) is currently unknown. We estimated the PAM in 2020 in 4 high-burden countries (South Africa, Brazil, China, and India) for tests that meet the specifications outlined in the TPPs. The yearly PAM was estimated for the most likely application of each TPP. In 2020 the PAM for all 4 countries together was estimated to be (1) 12M tests/year with a value of 48M-71M USD for a sputum smear-replacement test; (2) 16M tests/year with a value of 65M-97M USD for a biomarker test; (3) 18M tests/year with a value of 18M-35M USD for a triage test; (4) 12M tests/year with a value of 59M-2238M USD for a tuberculosis detection plus drug susceptibility test (DST) all-in-one or 1.5M tests/year for a DST that follows a positive tuberculosis detection test with a corresponding value of 75M-121M for both tuberculosis detection and DST. Although there is a considerable potential market for novel tuberculosis diagnostics that fit the specification of the TPPs in the 4 high-burden countries, the actual market for an individual product remains uncertain. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

The RUDY study platform – a novel approach to patient driven research in rare musculoskeletal diseases

Directory of Open Access Journals (Sweden)

M. K. Javaid

2016-11-01

Full Text Available Abstract Background Research into rare diseases is becoming more common, with recognition of the significant diagnostic and therapeutic care gaps. Registries are considered a key research methodology to address rare diseases. This report describes the structure of the Rare UK Diseases Study (RUDY platform that aims to improve research processes and address many of the challenges of carrying out rare musculoskeletal disease research. RUDY is an internet-based platform with online registration, initial verbal consent, online capture of patient reported outcome measures and events within a dynamic consent framework. The database structure, security and governance framework are described. Results There have been 380 participants recruited into RUDY with completed questionnaire rates in excess of 50 %. There has been one withdrawal and two participants have amended their consent options. Conclusions The strengths of RUDY include low burden for the clinical team, low research administration costs with high participant recruitment and ease of data collection and access. This platform has the potential to be used as the model for other rare diseases globally.

A Rare Case of Deep Digital Flexor Tendinopathy following Centesis of the Navicular Bursa

Directory of Open Access Journals (Sweden)

Tim J. Froydenlund

2017-10-01

Full Text Available Navicular bursa (NB centesis is a common diagnostic and therapeutic procedure in equine practice. This case report documents the clinical, diagnostic imaging and histological findings in a horse with a suspected iatrogenic deep digital flexor tendon (DDFT injury following centesis of the NB via a modified distal plantar approach (placement of two needles in a weight bearing position. Although it cannot be proven with absolute certainty, the authors believe that this is the first reported case where NB centesis is the likely cause of a DDFT lesion, and with magnetic resonance imaging performed both pre- and post-centesis. With this potential, though rare, complication of the procedure, alternative tendon sparing injection techniques should be considered prior to NB centesis in certain cases.

Can a finding of cervical vestibular evoked myogenic potentials contribute to vestibular migraine diagnostics?

Directory of Open Access Journals (Sweden)

Tihana Vešligaj

2016-02-01

Full Text Available Aim To investigate differences in vestibular evoked myogenic potentials (VEMP results with patients suffering from vestibular migraine and healthy people, taking into consideration values of threshold and latency of occurrence of the characteristic wave complex, size of amplitude, and interaural amplitude ratio. According to the results, determine the importance and usefulness of VEMP in vestibular migraine diagnostics. Methods A total number of 62 subjects were included in the study, 32 of them belonging to a group of patients suffering from vestibular migraine (VM, while other 30 were in a control group of healthy subjects. Information was collected during the diagnostic evaluation. General and otoneurological history of patients and bedside tests, audiological results, videonystagmography and cervical vestibular evoked myogenic potentials (cVEMP were made. Results There was a difference in an interaural ratio of amplitudes in the experimental and control groups, but it was not found to be clinically significant. By ToneBurst 500 Hz method, the interaural amplitude ratio higher than 35% was measured in 46.97% subjects, while the response was totally unilaterally missing in 28.8% patients. Conclusion Even the sophisticated method as cVEMP does not give the ultimate result confirming the vestibular migraine diagnosis, and neither do other diagnostic methods. cVEMP result can contribute to the completion of full mosaic of vestibular migraine diagnostics.

Issues in contemporary and potential future molecular diagnostics for dengue.

Science.gov (United States)

Sekaran, Shamala Devi; Soe, Hui Jen

2017-03-01

Dengue has been the most common arbovirus infection worldwide with 2.5 billion people living in over 100 endemic tropical and subtropical regions. Due to the high number of asymptomatic cases and the signs and symptoms being rather unspecific, dengue cases are often under-reported and might influence dengue surveillance programs. Therefore, a rapid, easy to use, inexpensive, and highly sensitive and specific diagnostic tool is essential for early and accurate diagnosis to ease the clinical management of patients as well as for the development of new interventions. Areas covered: This report discusses the contemporary dengue diagnostic tool, mainly from the aspect of molecular diagnosis where an overview of several nuclei acid amplification tests has been included. Potential molecular diagnostic tools such as biosensor and microarray are also discussed in this report. Expert commentary: Rapidness and accuracy in terms of sensitivity and specificity is imperative in dengue diagnosis for both clinical management and surveillance of dengue to ensure early treatment and corrective control measures can be carried out. In the next five years it is expected that there will be newer tests developed using not only the lateral flow techniques but more specifically biosensors and nanotechnology. These new technologies will have to be validated with the appropriate number and category of samples and to address the issue of cross-reactivity.

In Silico discovery of transcription factors as potential diagnostic biomarkers of ovarian cancer

KAUST Repository

Kaur, Mandeep; MacPherson, Cameron R; Schmeier, Sebastian; Narasimhan, Kothandaraman; Choolani, Mahesh; Bajic, Vladimir B.

2011-01-01

Background: Our study focuses on identifying potential biomarkers for diagnosis and early detection of ovarian cancer (OC) through the study of transcription regulation of genes affected by estrogen hormone.Results: The results are based on a set of 323 experimentally validated OC-associated genes compiled from several databases, and their subset controlled by estrogen. For these two gene sets we computationally determined transcription factors (TFs) that putatively regulate transcription initiation. We ranked these TFs based on the number of genes they are likely to control. In this way, we selected 17 top-ranked TFs as potential key regulators and thus possible biomarkers for a set of 323 OC-associated genes. For 77 estrogen controlled genes from this set we identified three unique TFs as potential biomarkers.Conclusions: We introduced a new methodology to identify potential diagnostic biomarkers for OC. This report is the first bioinformatics study that explores multiple transcriptional regulators of OC-associated genes as potential diagnostic biomarkers in connection with estrogen responsiveness. We show that 64% of TF biomarkers identified in our study are validated based on real-time data from microarray expression studies. As an illustration, our method could identify CP2 that in combination with CA125 has been reported to be sensitive in diagnosing ovarian tumors. 2011 Kaur et al; licensee BioMed Central Ltd.

In Silico discovery of transcription factors as potential diagnostic biomarkers of ovarian cancer

KAUST Repository

Kaur, Mandeep

2011-09-19

Background: Our study focuses on identifying potential biomarkers for diagnosis and early detection of ovarian cancer (OC) through the study of transcription regulation of genes affected by estrogen hormone.Results: The results are based on a set of 323 experimentally validated OC-associated genes compiled from several databases, and their subset controlled by estrogen. For these two gene sets we computationally determined transcription factors (TFs) that putatively regulate transcription initiation. We ranked these TFs based on the number of genes they are likely to control. In this way, we selected 17 top-ranked TFs as potential key regulators and thus possible biomarkers for a set of 323 OC-associated genes. For 77 estrogen controlled genes from this set we identified three unique TFs as potential biomarkers.Conclusions: We introduced a new methodology to identify potential diagnostic biomarkers for OC. This report is the first bioinformatics study that explores multiple transcriptional regulators of OC-associated genes as potential diagnostic biomarkers in connection with estrogen responsiveness. We show that 64% of TF biomarkers identified in our study are validated based on real-time data from microarray expression studies. As an illustration, our method could identify CP2 that in combination with CA125 has been reported to be sensitive in diagnosing ovarian tumors. 2011 Kaur et al; licensee BioMed Central Ltd.

Rare gas dependence of vibration--vibration energy transfer processes: A diagnostic technique. Applications to CH2D2 and CH3F

International Nuclear Information System (INIS)

Apkarian, V.A.; Weitz, E.

1979-01-01

The rare gas dependence of V--V rates can be used as a diagnostic technique to identify different mechanisms of vibrational energy transfer and determine the rate constants for individual kinetic steps. The method is especially useful for the identification and measurement of rates of resonant vibrational energy transfer processes. Analytical and numerical solutions of pertinent model equations are presented and their range of applicability is discussed. The technique is applied to CH 2 D 2 and CH 3 F. In CH 2 D 2 results of studies on ν 9 , [ν 1 , ν 6 ] and states in the 2000 cm -1 region are presented where the application of the technique has made it possible to identify the pathways leading to population of these states and to assign rate constants to some of the steps involved. In CH 3 F, by studying the Ar dependence of the V--V rates of the [ν 2 , ν 5 ] and [ν 1 , ν 4 ] states it has been possible to construct a complete map of energy transfer pathways which can explain all experimental observations for this system, to date. The general applicability of the technique and its potential application to other systems is also considered

Parathyroid adenoma with concurrent toxic thyroid adenoma: A rare ...

African Journals Online (AJOL)

recognized phenomenon. Primary hyperparathyroidism due to parathyroid adenoma in association with thyroid adenoma is extremely rare. These cases can present a diagnostic and therapeutic challenge to the treating physician as the patient may ...

Identification of mimotopes of Mycobacterium leprae as potential diagnostic reagents

Directory of Open Access Journals (Sweden)

Alban Silvana M

2013-01-01

Full Text Available Abstract Background An early diagnostic test for detecting infection in leprosy is fundamental for reducing patients’ sequelae. The currently used lepromin is not adequate for disease diagnosis and, so far, no antigen to be used in intradermoreaction has proved to be sensitive and specific for that purpose. Aiming at identifying new reagents to be used in skin tests, candidate antigens were investigated. Methods Random peptide phage display libraries were screened by using antibodies from leprosy patients in order to identify peptides as diagnostic reagents. Results Seven different phage clones were identified using purified antibodies pooled from sera of leprosy patients. When the clones were tested with serum samples by ELISA, three of them, 5A, 6A and 1B, allowed detecting a larger number of leprosy patients when compared to controls. The corresponding peptides expressed by selected phage clones were chemically synthesized. A pilot study was undertaken to assess the use of peptides in skin tests. The intradermal challenge with peptides in animals previously sensitized with Mycobacterium leprae induced a delayed-type hypersensitivity with peptide 5A (2/5 and peptide 1B (1/5. In positive controls, there was a 3/5 reactivity for lepromin and a 4/5 reactivity of the sensitized animals with soluble extract of M. leprae. Conclusions The preliminary data suggest that may be possible to develop reagents with diagnostic potential based on peptide mimotopes selected by phage display using polyclonal human antibodies.

The Physics and Diagnostic Potential of Ultraviolet Spectropolarimetry

Science.gov (United States)

Trujillo Bueno, Javier; Landi Degl'Innocenti, Egidio; Belluzzi, Luca

2017-09-01

The empirical investigation of the magnetic field in the outer solar atmosphere is a very important challenge in astrophysics. To this end, we need to identify, measure and interpret observable quantities sensitive to the magnetism of the upper chromosphere, transition region and corona. This paper provides an overview of the physics and diagnostic potential of spectropolarimetry in permitted spectral lines of the ultraviolet solar spectrum, such as the Mg ii h and k lines around 2800 Å, the hydrogen Lyman-α line at 1216 Å, and the Lyman-α line of He ii at 304 Å. The outer solar atmosphere is an optically pumped vapor and the linear polarization of such spectral lines is dominated by the atomic level polarization produced by the absorption and scattering of anisotropic radiation. Its modification by the action of the Hanle and Zeeman effects in the inhomogeneous and dynamic solar atmosphere needs to be carefully understood because it encodes the magnetic field information. The circular polarization induced by the Zeeman effect in some ultraviolet lines (e.g., Mg ii h & k) is also of diagnostic interest, especially for probing the outer solar atmosphere in plages and more active regions. The few (pioneering) observational attempts carried out so far to measure the ultraviolet spectral line polarization produced by optically pumped atoms in the upper chromosphere, transition region and corona are also discussed. We emphasize that ultraviolet spectropolarimetry is a key gateway to the outer atmosphere of the Sun and of other stars.

Putting a Face on Rare Diseases

Science.gov (United States)

... who have a rare and potentially dangerous disease, Ehlers-Danlos syndrome. Photo Courtesy of: Patricia Weltin That has been ... daughters with a rare and potentially dangerous disease, Ehlers-Danlos syndrome (EDS), a connective tissue disorder causing joint dislocations, ...

Rare earth taggants in-printing ink - its potential in forensic applications

International Nuclear Information System (INIS)

Joseph, Daisy; Chodhury, R.K.; Maind, Sandip

2011-01-01

Proton Induced X-ray Emission (PIXE) and Energy Dispersive X-ray Fluorescence (EDXRF) techniques were used for elemental characterization of offset printing ink tagged with rare-earth taggants. The offset printing ink was tagged with rare-earth (La, Pr, Nd, Sm, Eu and Gd) thenoyltrifluoroacetonate chelates at about 1000-ppm level for each element separately. Small aliquots (approximately 20 mg) of tagged inks were coated on paper supports in the form of small circles having diameter 10-15 mm each and then analyzed. In the case of PIXE, a proton beam of energy 4 MeV and in the case of EDXRF a radioisotope source of 241 Am (100 mCi) was used to excite the samples. The PIXE analysis showed well-resolved rare-earth LX-rays and EDXRF analysis showed the K X-rays of rare earths. The aim of this study is to see the efficacy of homogeneous mixing of inorganic taggants in offset printing ink with the objective to establish linear relation of intensity (signal) against concentrations/ amounts of taggant(s) and to derive the minimum detection limit, by EDXRF and PIXE. The feasibility study of determination of rare-earth elements in offset printing ink tagged with rare-earth thenoyltrifluoroacetonates was examined. In the present study, we have used the facility of Proton Induced X-ray Emission (PIXE) and Energy Dispersive X-ray Fluorescence (EDXRF) technique for identification of rare earths in tagged printing ink on paper support. Satisfactory results to identify and quantify the taggants were achieved. (author)

Improved single particle potential for transport model simulations of nuclear reactions induced by rare isotope beams

International Nuclear Information System (INIS)

Xu Chang; Li Baoan

2010-01-01

Taking into account more accurately the isospin dependence of nucleon-nucleon interactions in the in-medium many-body force term of the Gogny effective interaction, new expressions for the single-nucleon potential and the symmetry energy are derived. Effects of both the spin (isospin) and the density dependence of nuclear effective interactions on the symmetry potential and the symmetry energy are examined. It is shown that they both play a crucial role in determining the symmetry potential and the symmetry energy at suprasaturation densities. The improved single-nucleon potential will be useful for more accurate simulation of nuclear reactions induced by rare-isotope beams within transport models.

Single-cell proteomics: potential implications for cancer diagnostics.

Science.gov (United States)

Gavasso, Sonia; Gullaksen, Stein-Erik; Skavland, Jørn; Gjertsen, Bjørn T

2016-01-01

Single-cell proteomics in cancer is evolving and promises to provide more accurate diagnoses based on detailed molecular features of cells within tumors. This review focuses on technologies that allow for collection of complex data from single cells, but also highlights methods that are adaptable to routine cancer diagnostics. Current diagnostics rely on histopathological analysis, complemented by mutational detection and clinical imaging. Though crucial, the information gained is often not directly transferable to defined therapeutic strategies, and predicting therapy response in a patient is difficult. In cancer, cellular states revealed through perturbed intracellular signaling pathways can identify functional mutations recurrent in cancer subsets. Single-cell proteomics remains to be validated in clinical trials where serial samples before and during treatment can reveal excessive clonal evolution and therapy failure; its use in clinical trials is anticipated to ignite a diagnostic revolution that will better align diagnostics with the current biological understanding of cancer.

The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases

Directory of Open Access Journals (Sweden)

van Karnebeek Clara D M

2012-07-01

Full Text Available Abstract Background Intellectual disability (ID is a devastating and frequent condition, affecting 2-3% of the population worldwide. Early recognition of treatable underlying conditions drastically improves health outcomes and decreases burdens to patients, families and society. Our systematic literature review identified 81 such inborn errors of metabolism, which present with ID as a prominent feature and are amenable to causal therapy. The WebAPP translates this knowledge of rare diseases into a diagnostic tool and information portal. Methods & results Freely available as a WebAPP via http://www.treatable-id.org and end 2012 via the APP store, this diagnostic tool is designed for all specialists evaluating children with global delay / ID and laboratory scientists. Information on the 81 diseases is presented in different ways with search functions: 15 biochemical categories, neurologic and non-neurologic signs & symptoms, diagnostic investigations (metabolic screening tests in blood and urine identify 65% of all IEM, therapies & effects on primary (IQ/developmental quotient and secondary outcomes, and available evidence For each rare condition a ‘disease page’ serves as an information portal with online access to specific genetics, biochemistry, phenotype, diagnostic tests and therapeutic options. As new knowledge and evidence is gained from expert input and PubMed searches this tool will be continually updated. The WebAPP is an integral part of a protocol prioritizing treatability in the work-up of every child with global delay / ID. A 3-year funded study will enable an evaluation of its effectiveness. Conclusions For rare diseases, a field for which financial and scientific resources are particularly scarce, knowledge translation challenges are abundant. With this WebAPP technology is capitalized to raise awareness for rare treatable diseases and their common presenting clinical feature of ID, with the potential to improve health outcomes

The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases

Science.gov (United States)

2012-01-01

Background Intellectual disability (ID) is a devastating and frequent condition, affecting 2-3% of the population worldwide. Early recognition of treatable underlying conditions drastically improves health outcomes and decreases burdens to patients, families and society. Our systematic literature review identified 81 such inborn errors of metabolism, which present with ID as a prominent feature and are amenable to causal therapy. The WebAPP translates this knowledge of rare diseases into a diagnostic tool and information portal. Methods & results Freely available as a WebAPP via http://www.treatable-id.org and end 2012 via the APP store, this diagnostic tool is designed for all specialists evaluating children with global delay / ID and laboratory scientists. Information on the 81 diseases is presented in different ways with search functions: 15 biochemical categories, neurologic and non-neurologic signs & symptoms, diagnostic investigations (metabolic screening tests in blood and urine identify 65% of all IEM), therapies & effects on primary (IQ/developmental quotient) and secondary outcomes, and available evidence For each rare condition a ‘disease page’ serves as an information portal with online access to specific genetics, biochemistry, phenotype, diagnostic tests and therapeutic options. As new knowledge and evidence is gained from expert input and PubMed searches this tool will be continually updated. The WebAPP is an integral part of a protocol prioritizing treatability in the work-up of every child with global delay / ID. A 3-year funded study will enable an evaluation of its effectiveness. Conclusions For rare diseases, a field for which financial and scientific resources are particularly scarce, knowledge translation challenges are abundant. With this WebAPP technology is capitalized to raise awareness for rare treatable diseases and their common presenting clinical feature of ID, with the potential to improve health outcomes. This innovative digital

Practical applications of energy dispersive X-ray microanalysis in diagnostic oral pathology

International Nuclear Information System (INIS)

Daley, T.D.; Gibson, D.

1990-01-01

Energy dispersive X-ray microanalysis is a powerful tool that can reveal the presence and relative quantities of elements in minute particles in biologic materials. Although this technique has been used in some aspects of dental research, it has rarely been applied to diagnostic oral pathology. The purpose of this paper is to inform practicing dentists and oral specialists about the diagnostic potential of this procedure by presenting three case reports. The first case involved the identification of flakes of a metallic material claimed by a 14-year-old girl to appear periodically between her mandibular molars. In the second case, a periodontist was spared a lawsuit when a freely mobile mass in the antrum of his patient was found to be a calcium-phosphorus compound not related to the periodontal packing that had been used. The third case involved the differential diagnosis of amalgam tattoo and graphite tattoo in a pigmented lesion of the hard palate mucosa. The results of the analyses were significant and indicate a role for this technique in the assessment of selected cases. Potential for wider use of energy dispersive X-ray microanalysis in diagnostic oral pathology exists as research progresses

Cerebral Venous Sinus Thrombosis following Diagnostic Curettage in a Patient with Uterine Fibroid

Directory of Open Access Journals (Sweden)

Xiao-Qun Zhu

2014-01-01

Full Text Available Cerebral venous sinus thrombosis (CVST is a relatively rare cerebrovascular disease, of which the risk has been documented in patients with numerous conditions. However, CVST has never been previously described in association with the use of a diagnostic curettage in patient with uterine fibroid. Herein, we described a 43-year-old woman who presented with recurrent convulsive seizures and severe and progressive headache 1 day after a diagnostic curettage of the uterus, which was confirmed to be uterine fibroid pathologically later, and her condition subsequently progressed to confusion. Brain magnetic resonance imaging (MRI revealed an acute extensive thrombosis of the left transverse and sigmoid sinus and the ipsilateral cerebellum infarction. Evaluation for primary thrombophilia revealed that an iron deficiency anemia (IDA due to the fibroid bleeding induced menorrhagia together with a diagnostic curettage might be the sole hypercoagulable risk factor identified. Treatment with anticoagulation led to full recovery of her symptoms and recanalization of the thrombosis was proven on magnetic resonance venography (MRV 2 months later. We suggest that CVST should be recognized as a potential complication related to this diagnostic technique, especially in patient with IDA. The early diagnosis and timely treatment would be of significance in improving the prognosis of this potentially lethal condition.

Pure primary small cell carcinoma of urinary bladder: A rare diagnostic entity

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Sonia Gon

2013-01-01

Full Text Available Small cell carcinoma of the bladder is a rare, aggressive, poorly differentiated neuroendocrine neoplasm accounting for only 0.3-0.7% of all bladder tumors. Since the tumor is very rare, pathogenesis is uncertain. Small cell carcinomas of the urinary bladder are mixed with classic urothelial carcinomas or adenocarcinomas of the bladder in 68% cases, making pure primary small cell carcinoma even a rarer entity. The unknown etiology and natural history of small cell carcinoma of the urinary bladder represent a challenge both to the pathologist and urologists for its diagnosis and treatment, respectively.

Hydatid Disease Involving Some Rare Locations in the Body: a Pictorial Essay

International Nuclear Information System (INIS)

Yuksel, Murvet; Demirpolat, Gulen; Sever, Ahmet; Bakaris, Sevgi; Bulbuloglu, Ertan; Elmas, Nevra

2007-01-01

Hydatid disease (HD) is an endemic illness in many countries, and it poses an important public health problem that's influenced by peoples' socioeconomic status and migration that spreads this disease. The most common site is the liver (59 75%), followed in frequency by lung (27%), kidney (3%), bone (1 4%) and brain (1 2%). Other sites such as the heart, spleen, pancreas and muscles are very rarely affected. Unusual sites for this disease can cause diagnostic problems. Familiarity with the imaging findings of HD may be helpful in making an accurate diagnosis and preventing potential complications. The occurrence of E. granulosus in some locations of the body is very rare. These anatomic locations may cause difficulties in making the differential diagnosis as E. granulosus is usually not suspected in some locations of the body. Imaging modalities such as US, CT and MRI are helpful in diagnosing this disease. Radiologists, surgeons and physicians should always consider HD in differential diagnosis of a cystic lesion, and especially for the cystic leasions encountered in patients who live in or have come from endemic regions and if any of the previously described imaging features (e.g., calcification, daughter cysts and/or intracystic membranes) are seen. Familiarity with the various imaging appearances of HD may prevent diagnostic delay, and so decrease the risk of life-threatening complications

CRANIOPHARYNGOMAS IN CHILDREN AND ADOLESCENTS: DIAGNOSTICS AND TREATMENT

Directory of Open Access Journals (Sweden)

E.Yu. Ilyina

2011-01-01

Full Text Available Craniopharyngoma is a rare embriogenic tumor of sellar or parasellar region with low malignization rates and quite high incidence of relapses. High variability of anatomic localizations makes surgical treatment quite complicated. Regardless satisfactory treatment results and positive outcomes, post-surgical complications may dramatically lower patient’s quality of life. Also anatomical localization of craniopharyngomas stipulates high incidence of endocrine disorders. This review contains main diagnostic and treatment principles, complications linked to either tumor growth or to treatment. The authors discuss interpherone α use as a potential treatment method.Key words: craniopharyngioma, hypothalamic obesity, panhypopituitarism. (Voprosy sovremennoi pediatrii — Current Pediatrics. — 2011; 10 (6: 67–70.

Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease.

Science.gov (United States)

Tatsi, Christina; Stratakis, Constantine A

2018-03-01

Neonatal Cushing syndrome (CS) is most commonly caused by exogenous administration of glucocorticoids and rarely by endogenous hypercortisolemia. CS owing to adrenal lesions is the most common cause of endogenous CS in neonates and infants, and adrenocortical tumors (ACTs) represent most cases. Many ACTs develop in the context of a TP53 gene mutation, which causes Li-Fraumeni syndrome. More rarely, neonatal CS presents as part of other syndromes such as McCune-Albright syndrome or Beckwith-Wiedemann syndrome. Management usually includes resection of the primary tumor with or without additional medical treatment, but manifestations may persist after resolution of hypercortisolemia. Published by Elsevier Inc.

Testicular calculus: A rare case.

Science.gov (United States)

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

2015-01-01

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

Point-of-care rare cell cancer diagnostics.

Science.gov (United States)

Issadore, David

2015-01-01

The sparse cells that are shed from tumors into peripheral circulation are an increasingly promising resource for noninvasive monitoring of cancer progression, early diagnosis of disease, and serve as a tool for improving our understanding of cancer metastasis. However, the extremely sparse concentration of circulating tumor cells (CTCs) in blood (~1-100 CTC in 7.5 mL of blood) as well as their heterogeneous biomarker expression has limited their detection using conventional laboratory techniques. To overcome these challenges, we have developed a microfluidic chip-based micro-Hall detector (μHD), which can directly measure single, immunomagnetically tagged cells in whole blood. The μHD can detect individual cells even in the presence of vast numbers of blood cells and unbound reactants, and does not require any washing or purification steps. Furthermore, this cost-effective, single-cell analytical technique is well suited for miniaturization into a mobile platform for low-cost point-of-care use. In this chapter, we describe the methodology used to design, fabricate, and apply these chips to cancer diagnostics.

Potential diagnostic value of serum p53 antibody for detecting colorectal cancer: A meta-analysis.

Science.gov (United States)

Meng, Rongqin; Wang, Yang; He, Liang; He, Yuanqing; Du, Zedong

2018-04-01

Numerous studies have assessed the diagnostic value of serum p53 (s-p53) antibody in patients with colorectal cancer (CRC); however, results remain controversial. The present study aimed to comprehensively and quantitatively summarize the potential diagnostic value of s-p53 antibody in CRC. The present study utilized databases, including PubMed and EmBase, systematically regarding s-p53 antibody diagnosis in CRC, accessed on and prior to 31 July 2016. The quality of all the included studies was assessed using quality assessment of studies of diagnostic accuracy (QUADAS). The result of pooled sensitivity, pooled specificity, positive likelihood ratio (PLR) and negative likelihood ratio (NLR) were analyzed and compared with overall accuracy measures using diagnostic odds ratios (DORs) and area under the curve (AUC) analysis. Publication bias and heterogeneity were also assessed. A total of 11 trials that enrolled a combined 3,392 participants were included in the meta-analysis. Approximately 72.73% (8/11) of the included studies were of high quality (QUADAS score >7), and all were retrospective case-control studies. The pooled sensitivity was 0.19 [95% confidence interval (CI), 0.18-0.21] and pooled specificity was 0.93 (95% CI, 0.92-0.94). Results also demonstrated a PLR of 4.56 (95% CI, 3.27-6.34), NLR of 0.78 (95% CI, 0.71-0.85) and DOR of 6.70 (95% CI, 4.59-9.76). The symmetrical summary receiver operating characteristic curve was 0.73. Furthermore, no evidence of publication bias or heterogeneity was observed in the meta-analysis. Meta-analysis data indicated that s-p53 antibody possesses potential diagnostic value for CRC. However, discrimination power was somewhat limited due to the low sensitivity.

The testis: the unusual, the rare and the bizarre

International Nuclear Information System (INIS)

Stewart, V.R.; Sidhu, P.S.

2007-01-01

Ultrasound is the preferred technique when imaging the scrotal contents. Although appearances of many of the more common abnormalities present the examiner with no diagnostic difficulty, the more unusual conditions may present a considerable challenge. Many normal variants, unusual and rare abnormalities may be instantly recognized once seen. The current review highlights the more unusual and rare conditions affecting the scrotal contents in order to allow the reader the opportunity to gain knowledge of their existence and to aid future interpretation of the difficult examination

Eudialyte as potential industrial rare metal sources

International Nuclear Information System (INIS)

Chekmarev, A.M.; Chizhevskaya, S.V.; Masloboev, V.A.; Efremova, E.A.; Sharonov, A.V.

1989-01-01

The structural features and chemial compostion of eudialyte, zirconium silicate mineral, containing zirconium, niobium, tantalum, rare earth and other elements are considered. A brief review of studies of sulfuric acid decomposition of endialyte, including autoclave one, aimed at extraction of zirconium and other valuable components is given. The leaching methods providing a high direct zirconium yield into the solution, preparation of well-filtered pulps and permitting to realize further reprocessing of solutions by the extraction methods are discussed. 20 refs.; 4 figs

Rare metal and rare earth pegmatites of Western India

International Nuclear Information System (INIS)

Maithani, P.B.; Nagar, R.K.

1999-01-01

Rajasthan Mica Belt in western India is one of the three major mica-producing Proterozoic pegmatite belts of India, the others being in Bihar and Andhra Pradesh. The pegmatites of these mica belts, in general, are associated with the rare metal (RM) and rare earth element (REE)-bearing minerals like columbite-tantalite, beryl, lepidolite and other multiple oxides. RM-REE pegmatites of Gujarat are devoid of commercially workable mica. These pegmatites are geologically characterised in this paper, based on their association with granite plutons geochemistry, and RM and REE potential. In addition to RM and RE-bearing pegmatites, granites of the Umedpur area, Gujarat also show anomalous concentration (0.97 wt%) of rare metals (6431 ppm Nb, 1266 ppm Ta, 454 ppm Sn, 173 ppm W), (1098 ppm Ce 1.36% Y 2 O 3 ) rare earths, and uranium (0.40% eU 3 O 8 ). Eluvial concentrations in the soil and panned concentrate (0.04-0.28 wt%) analysed up to 7.4%Nb 2 O 5 , 836 ppm Ta, and 1.31% Y. Discrete columbite-tantalite and betafite have been identified in these concentrates in addition to other minerals like zircon, rutile, sphene and xenotime. This area with discrete RM R EE mineral phases could be significant as a non-pegmatite source for rare metal and rare earths. (author)

Disseminated Acanthamoeba Infection Presenting With Cutaneous Lesions in an Immunocompromised Patient: A Case Report, Review of Histomorphologic Findings, and Potential Diagnostic Pitfalls.

Science.gov (United States)

Morrison, Annie O; Morris, Robert; Shannon, Amie; Lauer, Scott R; Guarner, Jeannette; Kraft, Colleen S

2016-02-01

Free-living amoebas are exceedingly rare causes of cutaneous infections and present unique diagnostic and therapeutic challenges. We describe a case of disseminated acanthamoebiasis with cutaneous manifestations and summarize additional diagnostic, prognostic, and therapeutic highlights. A 58-year-old man with relapsed chronic lymphocytic leukemia had several weeks of progressive, painful ulcerations on the forehead, arms, abdomen, and thighs. A biopsy was performed for histopathologic evaluation. The biopsy specimen showed inflammatory infiltrate with abscess formation involving the epidermis, dermis, and subcutis. Scattered cells showed nuclei with a prominent central karyosome, dispersed chromatin, and either abundant foamy basophilic cytoplasm or two well-demarcated cytoplasmic walls. Acanthamoeba species was confirmed by polymerase chain reaction from the formalin-fixed, paraffin-embedded tissue. Cutaneous lesions from acanthamoebiasis are exceptionally rare but should be included in the differential diagnosis of necrotic cutaneous lesions in immunocompromised patients. Although infrequently encountered, pathologists need to be aware of the morphologic features of free-living amoebas. Immunohistochemical and molecular studies can confirm the diagnosis. Multiagent treatment regimens, when initiated empirically, have been more successful than single-agent regimens, but infections involving the central nervous system are almost universally fatal. © American Society for Clinical Pathology, 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

A new generation of optical diagnostics for bladder cancer: technology, diagnostic accuracy, and future applications

NARCIS (Netherlands)

Cauberg, Evelyne C. C.; de Bruin, Daniël M.; Faber, Dirk J.; van Leeuwen, Ton G.; de La Rosette, Jean J. M. C. H.; de Reijke, Theo M.

2009-01-01

CONTEXT: New developments in optical diagnostics have a potential for less invasive and improved detection of bladder cancer. OBJECTIVE: To provide an overview of the technology and diagnostic yield of recently developed optical diagnostics for bladder cancer and to outline their potential future

Funding therapies for rare diseases: an ethical dilemma with a potential solution.

Science.gov (United States)

Taylor, Colman; Jan, Stephen; Thompson, Kelly

2018-02-01

Funding rare disease therapies presents a challenge in Australia where there is a legislative requirement to consider cost-effectiveness. Currently the Life Saving Drugs Programme (LSDP) provides subsidised access to high-cost therapies for rare, life-threatening conditions. However the LSDP is currently under review by the Minsiter for Health and future access to rare disease therapies in uncertain. Internationally there is no gold standard model to evaluate and fund rare disease therapies, and considerable variation exists. However, common features of international systems include the opportunity for early stakeholder engagement, flexibility with evidence requirements, cost-effectiveness criteria and transparency in relation to the decision making framework and outcomes. Australians value equality and equal opportunity in relation to health care. To meet these expectations there is a clear need to maintain a separate fit-for-purpose framework to evaluate and fund rare disease therapies drawing on overseas best practice. This will provide certainty for industry to continue to invest in such treatments, as well as ensuring funding recommendations are reflective of Australian values balanced against the need for financial sustainability.

Laboratory diagnosis of the rare anaemias: external quality assessment benefits patient care

Directory of Open Access Journals (Sweden)

Barbara De La Salle

2013-03-01

Full Text Available Since its introduction in the 1960s, external quality assessment has developed to become an essential component of the quality management system of the diagnostic laboratory. External quality assessment provides a long term, retrospective view of laboratory performance, demonstrating the competence of the laboratory to others. The ENERCA project (the European Network for Rare and Congenital Anaemias has established a list of core laboratory tests that are used in the diagnosis of rare and congenital anaemias, which has been used as the basis for questionnaires to laboratories, to establish the use and quality assurance of diagnostic testing in the congenital and rare anaemias, and to European EQA providers for services in this key area. In general, the provision of EQA for rare and congenital anaemias is widely variable with little provision for the very rare disorders. For the more common congenital anaemias, such as the haemoglobinopathies and thalassaemias, provision is better but there is variation in aspects of the scheme design, especially the frequency of distribution. Where laboratories did not take part in EQA for individual tests, or there was no EQA available, a desire to participate was expressed in 66% (102/154 of cases. The provision of external quality assessment (EQA services for rare disorders is a challenge. For many of these conditions, the number of patients in any one member state is very small with only a few laboratories providing diagnostic testing. In these cases, the development of pan-European or cross-border EQA may be the only means by which standardisation of methods and results can be achieved. An EQA survey of 243 laboratories for performance in Hb A2 quantification showed encouraging results in that there was a clear differentiation in the results from a beta Thalassaemia carrier and an individual with no evidence of Thalassaemia; however, a bias was observed between different methods of measurement.

The Y4-RNA fragment, a potential diagnostic marker, exists in saliva

Directory of Open Access Journals (Sweden)

Tatsuya Ishikawa

2017-06-01

Full Text Available The 94-nt full-length Y4-RNA is thought to have roles in the initiation of DNA replication and RNA quality control. Although its 31/32-nt fragment also exists abundantly in plasma, little is known about its physiological role. Since the 31/32-nt Y4-RNA fragment in sera is reported to be more abundant in patients with coronary artery disease than healthy persons, the fragment may have a potential for a diagnostic and/or prognostic biomarker for some diseases regardless of its functionality. As a step toward further investigation of its potential utility, we examined if the 31/32-nt Y4-RNA fragment also exists in saliva that can be obtained noninvasively, and showed that, in addition to the 31/32-nt fragment, 14- and 11-nt Y4-RNA fragments are present in all saliva RNA samples from four healthy persons. We established a PCR method to accurately quantitate the amount of the 31/32-nt Y4-RNA fragment, and estimated its amount in saliva of healthy persons to be 0.06 ± 0.04 fmol per nanogram of saliva RNA. We also tried to develop an easier quantitation method using a DNA molecular beacon. Keywords: Y4-RNA fragment, Saliva RNA, Diagnostic/prognostic marker, Next-generation sequencing, RT-PCR, Molecular beacon

Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions.

Science.gov (United States)

Valent, Peter; Orazi, Attilio; Steensma, David P; Ebert, Benjamin L; Haase, Detlef; Malcovati, Luca; van de Loosdrecht, Arjan A; Haferlach, Torsten; Westers, Theresia M; Wells, Denise A; Giagounidis, Aristoteles; Loken, Michael; Orfao, Alberto; Lübbert, Michael; Ganser, Arnold; Hofmann, Wolf-Karsten; Ogata, Kiyoyuki; Schanz, Julie; Béné, Marie C; Hoermann, Gregor; Sperr, Wolfgang R; Sotlar, Karl; Bettelheim, Peter; Stauder, Reinhard; Pfeilstöcker, Michael; Horny, Hans-Peter; Germing, Ulrich; Greenberg, Peter; Bennett, John M

2017-09-26

Myelodysplastic syndromes (MDS) comprise a heterogeneous group of myeloid neoplasms characterized by peripheral cytopenia, dysplasia, and a variable clinical course with about 30% risk to transform to secondary acute myeloid leukemia (AML). In the past 15 years, diagnostic evaluations, prognostication, and treatment of MDS have improved substantially. However, with the discovery of molecular markers and advent of novel targeted therapies, new challenges have emerged in the complex field of MDS. For example, MDS-related molecular lesions may be detectable in healthy individuals and increase in prevalence with age. Other patients exhibit persistent cytopenia of unknown etiology without dysplasia. Although these conditions are potential pre-phases of MDS they may also transform into other bone marrow neoplasms. Recently identified molecular, cytogenetic, and flow-based parameters may add in the delineation and prognostication of these conditions. However, no generally accepted integrated classification and no related criteria are as yet available. In an attempt to address this challenge, an international consensus group discussed these issues in a working conference in July 2016. The outcomes of this conference are summarized in the present article which includes criteria and a proposal for the classification of pre-MDS conditions as well as updated minimal diagnostic criteria of MDS. Moreover, we propose diagnostic standards to delineate between ´normal´, pre-MDS, and MDS. These standards and criteria should facilitate diagnostic and prognostic evaluations in clinical studies as well as in clinical practice.

Malignancy-Induced Hypercalcemia—Diagnostic Challenges

Directory of Open Access Journals (Sweden)

Claire Hoyoux

2017-11-01

Full Text Available Hypercalcemia in children is a rare metabolic finding. The clinical picture is usually non-specific, and the etiology includes several entities (metabolic, nutritional, drug-induced, inflammatory, cancer-associated, or genetic depending on the age at presentation, but severe hypercalcemia is associated mainly with malignancy in childhood and sepsis in neonates. Severe parathyroid hormone (PTH-suppressed hypercalcemia is challenging and requires multidisciplinary diagnostic and therapeutic approaches to (i confirm or rule out a malignant cause, (ii treat it and its potentially dangerous complications. We report a case of severe and complicated PTH-independent hypercalcemia in a symptomatic 3-year-old boy. His age, severity of hypercalcemia and its complicated course, and the first imaging reports were suggestive of malignancy. The first bone and kidney biopsies and bone marrow aspiration were normal. The definitive diagnosis was a malignant-induced hypercalcemia, and we needed 4 weeks to assess other differential diagnoses and to confirm, on histopathological and immunochemical base, the malignant origin of hypercalcemia. Using this case as an illustrative example, we suggest a diagnostic approach that underlines the importance of repeated histology if the clinical suspicion is malignancy-induced hypercalcemia. Effective treatment is required acutely to restore calcium levels and to avoid complications.

Review of Mycobacteriumavium subsp. paratuberculosis antigen candidates with diagnostic potential

DEFF Research Database (Denmark)

Mikkelsen, Heidi; Aagaard, Claus; Nielsen, Søren Saxmose

2011-01-01

antigens, heat shock antigens and hypothetical antigens. Strategies for evaluation of novel antigen candidates are discussed critically. Relatively few of the described antigens were evaluated for their use in CMI based diagnostic assays and so far, no obvious candidate has been identified...... to development of antibodies and shedding of detectable amounts of MAP. At present, available diagnostic assays are limited by the lack of MAP specific antigens included in these assays resulting in poor specificity. The objective of this review is to provide a systematic overview of diagnostic MAP antigen...... faeces; however, these diagnostic tools are often not applicable until years after infection. Detection of MAP specific cell-mediated immune (CMI) responses can serve as an alternative and be implemented in a diagnostic tool. CMI responses can be measured at an early stage of infection, prior...

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

DEFF Research Database (Denmark)

Nunn, Laurence M; Lopes, Luis R; Syrris, Petros

2016-01-01

AIMS: The targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS) probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing has the potential to improve this yield. The primary aim of this study is to examine the feasibility and diagnostic utility...... of targeted exome screening in SADS victims, utilizing familial clinical screening whenever possible. METHODS AND RESULTS: To determine the feasibility and diagnostic yield of targeted exome sequencing deoxyribonucleic acid (DNA) was isolated from 59 SADS victims (mean age 25 years, range 1-51 years...... previously published rare (0.02-0.5%) candidate mutations-a total yield of 29%. Co-segregation fully confirmed two private SCN5A Na channel mutations. Variants of unknown significance were detected in a further 34% of probands. CONCLUSION: Molecular autopsy using targeted exome sequencing has a relatively...

Rare human papillomavirus 16 E6 variants reveal significant oncogenic potential

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Tommasino Massimo

2011-06-01

Full Text Available Abstract The aim of this study was to determine whether low prevalence human papillomavirus (HPV 16 E6 variants differ from high prevalence types in their functional abilities. We evaluated functions relevant to carcinogenesis for the rarely-detected European variants R8Q, R10G and R48W as compared to the commonly detected L83V. Human immortalized keratinocytes (NIKS stably transduced with the E6 variants were used in most functional assays. Low and high prevalence E6 variants displayed similar abilities in abrogation of growth arrest and inhibition of p53 elevation induced by actinomycin D. Differences were detected in the abilities to dysregulate stratification and differentiation of NIKS in organotypic raft cultures, modulate detachment induced apoptosis (anoikis and hyperactivate Wnt signaling. No distinctive phenotype could be assigned to include all rare variants. Like L83V, raft cultures derived from variants R10G and R48W similarly induced hyperplasia and aberrantly expressed keratin 5 in the suprabasal compartment with significantly lower expression of keratin 10. Unlike L83V, both variants, and particularly R48W, induced increased levels of anoikis upon suspension in semisolid medium. R8Q induced a unique phenotype characterized by thin organotypic raft cultures, low expression of keratin 10, and high expression of keratins 5 and 14 throughout all raft layers. Interestingly, in a reporter based assay R8Q exhibited a higher ability to augment TCF/β-catenin transcription. The data suggests that differences in E6 variant prevalence in cervical carcinoma may not be related to the carcinogenic potential of the E6 protein.

Conserved B-cell epitopes among human bocavirus species indicate potential diagnostic targets.

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Zhuo Zhou

Full Text Available BACKGROUND: Human bocavirus species 1-4 (HBoV1-4 have been associated with respiratory and enteric infections in children. However, the immunological mechanisms in response to HBoV infections are not fully understood. Though previous studies have shown cross-reactivities between HBoV species, the epitopes responsible for this phenomenon remain unknown. In this study, we used genomic and immunologic approaches to identify the reactive epitopes conserved across multiple HBoV species and explored their potential as the basis of a novel diagnostic test for HBoVs. METHODOLOGY/PRINCIPAL FINDINGS: We generated HBoV1-3 VP2 gene fragment phage display libraries (GFPDLs and used these libraries to analyze mouse antisera against VP2 protein of HBoV1, 2, and 3, and human sera positive for HBoVs. Using this approach, we mapped four epitope clusters of HBoVs and identified two immunodominant peptides--P1 (¹MSDTDIQDQQPDTVDAPQNT²⁰, and P2 (¹⁶²EHAYPNASHPWDEDVMPDL¹⁸⁰--that are conserved among HBoV1-4. To confirm epitope immunogenicity, we immunized mice with the immunodominant P1 and P2 peptides identified in our screen and found that they elicited high titer antibodies in mice. These two antibodies could only recognize the VP2 of HBoV 1-4 in Western blot assays, rather than those of the two other parvoviruses human parvovirus B19 and human parvovirus 4 (PARV4. Based on our findings, we evaluated epitope-based peptide-IgM ELISAs as potential diagnostic tools for HBoVs IgM antibodies. We found that the P1+P2-IgM ELISA showed a higher sensitivity and specificity in HBoVs IgM detection than the assays using a single peptide. CONCLUSIONS/SIGNIFICANCE: The identification of the conserved B-cell epitopes among human bocavirus species contributes to our understanding of immunological cross-reactivities of HBoVs, and provides important insights for the development of HBoV diagnostic tools.

Diagnostic accuracy of clinical and blood examination for sepsis in potentially infected neonates

Directory of Open Access Journals (Sweden)

Ari Mulyani

2006-10-01

Full Text Available Background Neonatal sepsis remains a diagnostic challenge due to its nonspesific symptoms and signs. Blood culture as the gold standard is still a problem because it takes time, is expensive, and not every health facility is able to perionn. Objective To evaluate the diagnostic accuracy of clinical symptoms, hematologic findings, and C-reactive protein (CRP in neonatal sepsis. Methods Samples were taken from potentially infected neonates admitted to the Matemal-Perinatal Unit of Sardjito Hospital, between December 1st, 2000 and March 31st, 2001 using at least one of the criteria: prematurity, very low birth weight infants, matemal pyrexia during delivery, premature membrane rupture, or thick, cloudy amniotic fluid. Clinical symptoms, total leukocyte, neutrophil, platelet count, CRP, and blood culture as the gold standard were examined. Results Among 99 neonates enrolled, the sensitivity, specificity, positive and negative predictive value of clinical symptoms were 79.3%, 75.7%, 57.5%, and 89.9%, respectively; leukopenia/leukocytosis were 27.6%, 85.7%, 44.4%, and 74.1%; neutropenia! neutrophilia were 41.4%, 71.4%, 37.5%, and 74.6%; thrombocytopenia were 79.3%, 51.8%, 40.4%, and 85.7%; positive CRP were 58.6%,78.6%,53.1%, and 82.1%. Parallel tests increased the sensitivity up to 89.7%. Specificity, positive and negative predictive value, and likelihood ratio were 44.3%, 40%, 91.2%, and 1.6, respectively. Serial tests increased the specificity up to 88.6%. Sensitivity, positive and negative predictive value, and likelihood ratio were 58.6%, 68%, 83.8%, and 5.1, respectively. Conclusion Clinical sepsis, thrombocytopenia, and CRP are sufficiently accurate as diagnostic tests for sepsis in potentially infected neonates. Parallel tests will increase the sensitivity, while serial tests increase the specificity.

Diagnostic examination of the urethra in the female and double-balloon urethrography as a diagnostic method

International Nuclear Information System (INIS)

Madeja, C.; Mutze, S.; Poetzschke, B.; Tunn, R.; Heinrich, G.; Hamm, B.

1997-01-01

The double-balloon urethrography can be recommended as an efficient diagnostic method for examination of the urethra in the female patient. Because of its improved controllability, retrograde application of the contrast agent is superior to other techniques. Complications can be avoided by maintaining constant pressure during contrast agent application. The few commercially available double-balloon instruments suffer from a number of deficiencies which are the reason for this technique having met with low acceptance, thus being only rarely applied. In addition, application of the instrument is not easy. Nevertheless, this diagnostic technique would deserve much more frequent application. (orig.) [de

Rare cause of post-squalene disorder of cholesterol biosynthesis ...

African Journals Online (AJOL)

Errors of cholesterol biosynthesis represent a heterogeneous group of metabolic disorders. The aim of the authors of this article is to present a case of a patient with typical symptoms of a rare post-squalene disorder of cholesterol biosynthesis, its diagnostics and progress in neonatal period. The differential diagnosis of a ...

Raman scattering of rare earth hexaborides

International Nuclear Information System (INIS)

Ogita, Norio; Hasegawa, Takumi; Udagawa, Masayuki; Iga, Fumitoshi; Kunii, Satoru

2009-01-01

Raman scattering spectra were measured for the rare-earth hexaborides RB 6 (R = Ce, Gd, or Dy). All Raman-active phonons due to B 6 vibrations were observed in the range 600 - 1400 cm -1 . Anomalous peaks were detected below 200 cm -1 , which correspond to vibrations of rare-earth ion excited by second-order Raman scattering process. The intensity and energy of the rare-earth mode decrease with decreasing temperature. This suggests that the rare-earth ion vibrates in a shallow and anharmonic potential due to the boron cage. Using the reported values of mean square displacement of rare-earth ion, we estimated the anharmonic contribution for the rare-earth vibrations.

Galactosemia: a rare case in pediatric practice

Directory of Open Access Journals (Sweden)

S. Ya. Volgina

2015-01-01

Full Text Available Galactosemia is a rare life-threatening inherited autosomal recessive disease, the differential diagnosis of which has been very difficult up to date, especially if there are no results of neonatal screening for some reasons. The paper describes a clinical case of a 10-day patient with type I classic galactosemia and reflects the importance of a timely diagnostic search and switching him to lactose-free formulas.

Primary thoracic epidural lymphoma: A rare cause of spinal cord ...

African Journals Online (AJOL)

Spinal epidural lymphoma is a rare entity that is not often considered in the differential diagnosis of an epidural mass in a previously healthy individual. Pfatients with Primary Spinal Epidural Lymphomas (PSELs) have negative diagnostic work up for systemic lymphoma and unlike disseminated lymphoma, they achieve ...

A diagnostic algorithm for atypical spitzoid tumors: guidelines for immunohistochemical and molecular assessment.

Science.gov (United States)

Cho-Vega, Jeong Hee

2016-07-01

Atypical spitzoid tumors are a morphologically diverse group of rare melanocytic lesions most frequently seen in children and young adults. As atypical spitzoid tumors bear striking resemblance to Spitz nevus and spitzoid melanomas clinically and histopathologically, it is crucial to determine its malignant potential and predict its clinical behavior. To date, many researchers have attempted to differentiate atypical spitzoid tumors from unequivocal melanomas based on morphological, immonohistochemical, and molecular diagnostic differences. A diagnostic algorithm is proposed here to assess the malignant potential of atypical spitzoid tumors by using a combination of immunohistochemical and cytogenetic/molecular tests. Together with classical morphological evaluation, this algorithm includes a set of immunohistochemistry assays (p16(Ink4a), a dual-color Ki67/MART-1, and HMB45), fluorescence in situ hybridization (FISH) with five probes (6p25, 8q24, 11q13, CEN9, and 9p21), and an array-based comparative genomic hybridization. This review discusses details of the algorithm, the rationale of each test used in the algorithm, and utility of this algorithm in routine dermatopathology practice. This algorithmic approach will provide a comprehensive diagnostic tool that complements conventional histological criteria and will significantly contribute to improve the diagnosis and prediction of the clinical behavior of atypical spitzoid tumors.

Computer-assisted initial diagnosis of rare diseases

Directory of Open Access Journals (Sweden)

Rui Alves

2016-07-01

Full Text Available Introduction. Most documented rare diseases have genetic origin. Because of their low individual frequency, an initial diagnosis based on phenotypic symptoms is not always easy, as practitioners might never have been exposed to patients suffering from the relevant disease. It is thus important to develop tools that facilitate symptom-based initial diagnosis of rare diseases by clinicians. In this work we aimed at developing a computational approach to aid in that initial diagnosis. We also aimed at implementing this approach in a user friendly web prototype. We call this tool Rare Disease Discovery. Finally, we also aimed at testing the performance of the prototype. Methods. Rare Disease Discovery uses the publicly available ORPHANET data set of association between rare diseases and their symptoms to automatically predict the most likely rare diseases based on a patient’s symptoms. We apply the method to retrospectively diagnose a cohort of 187 rare disease patients with confirmed diagnosis. Subsequently we test the precision, sensitivity, and global performance of the system under different scenarios by running large scale Monte Carlo simulations. All settings account for situations where absent and/or unrelated symptoms are considered in the diagnosis. Results. We find that this expert system has high diagnostic precision (≥80% and sensitivity (≥99%, and is robust to both absent and unrelated symptoms. Discussion. The Rare Disease Discovery prediction engine appears to provide a fast and robust method for initial assisted differential diagnosis of rare diseases. We coupled this engine with a user-friendly web interface and it can be freely accessed at http://disease-discovery.udl.cat/. The code and most current database for the whole project can be downloaded from https://github.com/Wrrzag/DiseaseDiscovery/tree/no_classifiers.

Laboratory diagnosis of the rare anaemias: external quality assessment benefits patient care

OpenAIRE

Barbara De La Salle; Andrea Mosca; Renata Paleari; Vasileios Rapanakis; Keith Hyde

2013-01-01

Since its introduction in the 1960s, external quality assessment has developed to become an essential component of the quality management system of the diagnostic laboratory. External quality assessment provides a long term, retrospective view of laboratory performance, demonstrating the competence of the laboratory to others. The ENERCA project (the European Network for Rare and Congenital Anaemias) has established a list of core laboratory tests that are used in the diagnosis of rare and co...

Rare diseases and orphan drugs

Directory of Open Access Journals (Sweden)

Domenica Taruscio

2011-01-01

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

Tuberculous mastitis diagnosed on cytology - case report of a rare entity

Directory of Open Access Journals (Sweden)

Riti Tushar Kanti Sinha

2017-01-01

Full Text Available Tuberculous mastititis is a rare clinical entity and usually affects women from the Indian subcontinent. It often mimics breast carcinoma and pyogenic breast abscess. Fine needle aspiration cytology (FNAC is a very essential diagnostic tool when other routine laboratory investigations are not helpful in reaching to the conclusion. Tuberculosis (TB of the breast is an uncommon presentation of TB even in countries where the incidence of pulmonary and extrapulmonary TB is high. Radiological imaging is not diagnostic.

Pediatric gliosarcoma with fibrosarcomatous differentiation: Report of a rare case

Directory of Open Access Journals (Sweden)

Shantha Ravisankar

2012-01-01

Full Text Available Gliosarcoma is a rare variant of glioblastoma with a biphasic pattern showing glial and mesenchymal differentiation. It is seen in adults during their fifth to sixth decades of life and is extremely rare in children. We report a case of primary gliosarcoma with fibrosarcomatous differentiation in an 11-year-old boy presenting with headache and vomiting. Imaging showed a contrast-enhancing isodense space-occupying lesion with areas of calcification in the right temporoparietal cortex. A total excision was done and, on histopathologic examination, a differential diagnostic consideration of gliosarcoma and teratoma with malignant transformation was made. After immunohistochemical analysis, a final diagnosis of gliosarcoma with fibrosarcomatous differentiation was then made. Primary gliosarcoma is a very rare tumor in children with a poor prognosis.

Giant Colonic Diverticulum: a Rare Diagnostic and Therapeutic Challenge of Diverticular Disease.

Science.gov (United States)

Macht, Ryan; Sheldon, Holly K; Fisichella, P Marco

2015-08-01

A giant colonic diverticulum is a diverticulum of the colon greater than 4 cm in diameter that can present, albeit rarely, as a complication of diverticular disease. We discuss the three different histologic subtypes that have been described and the challenges in the diagnosis and treatment.

[Anorectal pain in children: rare or rarely recognised?].

Science.gov (United States)

Sonneveld, Laura J H; Engelberts, Adèle C; van den Elzen, Annette P M

2016-01-01

Anorectal pain is a common symptom, often as part of functional gastrointestinal disorders. Children seldom present with this complaint. Proctalgia fugax and chronic proctalgia are both anorectal pain syndromes but differ in duration and frequency of episodes and in pain characteristics. No research has been conducted on anorectal pain syndromes in children. We present two patients. Firstly, an 8-year-old girl who suffered from anorectal cramps. We found no underlying cause apart from constipation. The symptoms disappeared spontaneously. The second concerned an 8-year-old boy who presented with recurrent anorectal cramps. He was diagnosed with celiac disease. Anorectal dysfunction and visceral hypersensitivity have been described in adult celiac patients. Symptoms of anorectal pain in children are rare probably because it often remains unrecognised. Noninvasive diagnostic methods and interventions are preferred in paediatric medicine. Screening for celiac disease in children with anorectal pain episodes should be considered.

Congenital tracheoesophageal fistula: A rare and late presentation in adult patient

Directory of Open Access Journals (Sweden)

Waseem M Hajjar

2012-01-01

Full Text Available Congenital H-type tracheoesophageal fistula (TEF in adults is a rare presentation and can test the diagnostic acumen of a surgeon, endoscopist, and the radiologist. These undetected fistulas may present as chronic lung disease of unknown origin because repeated aspirations can lead to recurrent lung infections and bronchiectasis. Congenital TEFs should be considered in the diagnosis of infants and young adults with recurrent respiratory distress and/or infections. Here, we present the successful management of this rare case in an adult patient.

Early diagnostic potential of APC hypermethylation in esophageal cancer.

Science.gov (United States)

Wang, Bujiang; Song, Haojun; Jiang, Haizhong; Fu, Yangbo; Ding, Xiaoyun; Zhou, Chongchang

2018-01-01

The hypermethylation of APC gene is observed in various cancers, including esophageal cancer (EC). However, the association between APC methylation and the initiation and progression of EC is poorly understood. The current study systematically reviewed studies on abnormal methylation of APC in EC and quantitatively synthesized 18 studies by meta-analysis involving 1008 ECs, 570 Barrett's esophagus (BE), and 782 controls. Our results showed higher methylation of APC in EC (OR = 23.33, P APC methylation in EC was similar to that in BE ( P = 0.052), it was not associated with tumor stage ( P = 0.204). Additionally, APC methylation was not significantly associated with overall survival (OS) and relapse-free survival (RFS) in patients with EC. The performance of APC methylation for the detection of EC and BE achieved areas under the receiver operating characteristic curves of 0.94 and 0.88, respectively. Our results imply that APC methylation detection is a potential diagnostic biomarker for EC and BE.

Neonatal hemochromatosis and patent ductus venosus: clinical course and diagnostic pitfalls

International Nuclear Information System (INIS)

Tsai, Andy; Paltiel, Harriet J.; Sena, Laureen M.; Kim, Heung Bae; Fishman, Steven J.; Alomari, Ahmad I.

2009-01-01

Neonatal hemochromatosis is a rare metabolic disorder characterized by excessive iron deposition within the liver leading to hepatic failure and portal hypertension. We describe the clinical course and imaging findings in three infants with neonatal hemochromatosis associated with patent ductus venosus. We paid special attention to the diagnostic challenges encountered in these patients in order to emphasize some of the potential diagnostic pitfalls. We conducted a comprehensive search of our radiology database of the last 10 years (1999-2008) for the keywords ''neonatal hemochromatosis.'' Medical records and imaging studies of various modalities were reviewed. Three neonates were found to have neonatal hemochromatosis; all of them were associated with patent ductus venosus. Two of these patients were referred to our tertiary center for embolization of an inaccurately diagnosed hepatic vascular malformation. Two patients underwent successful liver transplantation and one died shortly after referral. The awareness and inclusion of neonatal hemochromatosis in the differential diagnosis of newborns with liver failure and patent ductus venosus has critical treatment implications. (orig.)

Molecular biomarkers have the potential to improve the diagnostic work-up of pancreatic cystic lesions

DEFF Research Database (Denmark)

Plougmann, Julie Isabelle; Klausen, Pia; Karstensen, John Gásdal

2017-01-01

of diagnostic tools are used to predict the malignant potential of these cysts, but specificity and sensitivity are limited. Thus, many patients undergo unnecessary operations for benign cysts. Balancing the risks of watchful waiting with those of operative management is key in managing these lesions. During...... the last decade, genetic changes of pancreatic cysts have been examined extensively to estimate their malignant potential. In this review, we provide an overview of the latest molecular and genetic aspects of pancreatic cysts and how they may contribute to the differential diagnosis in patients...

New developments in JET neutron, alpha particle and fuel mixture diagnostics with potential relevance to ITER

International Nuclear Information System (INIS)

Murari, A.; Bertalot, L.; Angelone, M.; Pillon, M.; Ericsson, G.; Conroy, S.; Kaellne, J.; Kiptily, V.; Popovichev, S.; Adams, J.M.; Stork, D.; Afanasyiev, V.; Mironov, M.; Bonheure, G.

2005-01-01

Some recent JET campaigns, with the introduction of trace amount (n T /n D 4 He, provided unique opportunities to test new diagnostic approaches and technologies for the detection of neutrons, alpha particles and fuel mixture. With regard to neutron detection, the recent activity covered all the most essential aspects: calibration and cross validation of the diagnostics, measurement of the spatial distribution of the neutrons, particle transport and finally neutron spectrometry. The first tests of some new neutron detection technologies were also undertaken successfully during the TTE campaign. To improve JET diagnostic capability in the field of alpha particles, a strong development program was devoted to the measurement of their slowing down and imaging with gamma ray spectroscopy. A new approach for the fusion community to measure the fast ion losses, based on the activation technique, was also successfully attempted for the first time on JET. A careful assessment of the NPA potential to determine the fuel mixture and the particle transport coefficients is under way. (author)

Rare Infratentorial and Supratentorial Localization of Juvenile Angiofibroma: A Case Report.

Science.gov (United States)

Pašalić, Ivan; Trninić, Ines; Nemir, Jakob; Jednačak, Hrvoje; Žarković, Kamelija; Mrak, Goran

2016-01-01

Angiofibromas are rare tumors of the head and neck that mostly occur in the sphenopalatine region. We present a case of angiofibroma in a young male patient with an unusual and extremely rare localization, which to our knowledge has not been described before. It was situated in the tentorium and spread to the supratentorial and infratentorial regions. The patient initially presented with symptoms of increased intracranial pressure. After a diagnostic evaluation was done, the whole tumor was successfully removed using the supratentorial and infratentorial approach and the microsurgical technique. © 2016 S. Karger AG, Basel.

Granulomatous lobular mastitis: a complex diagnostic and therapeutic problem.

Science.gov (United States)

Akcan, Alper; Akyildiz, Hizir; Deneme, Mehmet Ali; Akgun, Hulya; Aritas, Yucel

2006-08-01

Granulomatous lobular mastitis is a rare chronic inflammatory disease of the breast. Clinical and radiological features may mimic breast carcinoma. Since this entity was first described, several clinical and pathologic features of the disease have been reported, but diagnostic features and treatment alternatives are still unclear. The purpose of this study is to evaluate diagnostic difficulties and discuss the outcome of surgical treatment in a series of 21 patients with granulomatous lobular mastitis. A retrospective review of 21 patients with histologically confirmed granulomatous lobular mastitis treated in our center between January 1995 and May 2005 was analyzed to identify issues in the diagnosis and treatment of this rare condition. The most common presenting symptoms were a mass in the breast and pain. Four patients had no significant mammographic findings (MMG), but on ultrasound (US), 2 had irregular hypoechoic mass, and 2 hypoechoic nodular structures had abnormalities-one parenchymal distortion and 1 mass formation in 2 of these 4 patients' magnetic resonance imaging (MRI). In recurrent cases, limited excision under local anesthesia was performed, as the clinical examination suggested carcinoma. Although some findings on MMG and US are suggestive of benign breast disease, these modalities do not rule out malignancy. MRI may be helpful in patients who do not have significant pathology at MMG or US. Fine-needle aspiration cytology may be useful in some cases but diagnosis is potentially difficult because of its cytologic characteristics. Wide excision, particularly under general anesthesia, can be therapeutic as well as useful in providing an exact diagnosis.

Lung Ultrasound Has Limited Diagnostic Value in Rare Cystic Lung Diseases

DEFF Research Database (Denmark)

Davidsen, Jesper Rømhild; Bendstrup, Elisabeth; Henriksen, Daniel P

2017-01-01

: This single centre case-based cross-sectional study of patients diagnosed with LAM, PCLH and BHDS was conducted at a Danish DPLD specialist centre. Patients underwent clinical examination including LUS. LUS findings were compared to findings scored according to a modified Belmaati score on HRCT and reviewed...... value as a diagnostic tool in patients with LAM, PLCH, and BHDS as normal LUS findings did not rule out severe cystic lung disease....

Biocatalytic production of D-tagatose: A potential rare sugar with versatile applications.

Science.gov (United States)

Jayamuthunagai, J; Gautam, P; Srisowmeya, G; Chakravarthy, M

2017-11-02

D-tagatose is a naturally existing rare monosaccharide having prebiotic properties. Minimal absorption, low metabolizing energy, and unique clinical properties are the characteristics of D-tagatose. D-tagatose gained international attention by matching the purpose of alternate sweeteners that is much needed for the control of diabetes among world population. Recent efforts in understanding tagatose bioconversion have generated essential information regarding its production and application. This article reviews the evolution of D-tagatose as an important rare sugar by appreciable improvements in production results and its significant applications resulted of its unique physical, chemical, biological, and clinical properties thus considering it an appropriate product for requisite improvements in technical viability. Based on current knowledge and technology projections, the commercialization of D-tagatose rare sugar as food additive is close to reality.

Rare Case of Non Tuberculous Mycobacterial: A Diagnostic dilemma

LENUS (Irish Health Repository)

Marathe, N

2017-02-01

Non-Tuberculous Mycobacterial (NTM) infections occur in HIV-negative patients with or without underlying lung disease. It is generally felt that these organisms are acquired from the environment. Unlike tuberculosis, there are no convincing data demonstrating human-to-human OR animal-to-human transmission of NTM. We report a case of NTM infection in a 38 year old patient with underlying emphysematous lung disease. The case highlights the diagnostic dilemma which occurs when persistent sputum Acid- Fast Bacilli (AFB) smears are positive, but Nucleic acid amplification test is negative. To aid the diagnosis and rule out Pulmonary Tuberculosis as the other differential diagnosis, we applied American Thoracic Society\\/Infectious Disease Society of America (ATS\\/IDSA) guidelines & recommendations1. The decision to treat was taken on basis of CT findings, clinical, microbiologic criteria and expert consultation with Microbiology department at Waterford.

Radial pseudoaneurysm following diagnostic coronary angiography

Directory of Open Access Journals (Sweden)

Shankar Laudari

2015-06-01

Full Text Available The radial artery access has gained popularity as a method of diagnostic coronary catheterization compared to femoral artery puncture in terms of vascular complications and early ambulation. However, very rare complication like radial artery pseudoaneurysm may occur following cardiac catheterization which may give rise to serious consequences. Here, we report a patient with radial pseudoaneurysm following diagnostic coronary angiography. Adequate and correct methodology of compression of radial artery following puncture for maintaining hemostasis is the key to prevention.DOI: http://dx.doi.org/10.3126/jcmsn.v10i3.12776 Journal of College of Medical Sciences-Nepal, 2014, Vol-10, No-3, 48-50

Rare variation in the origin of the right vertebral artery

African Journals Online (AJOL)

Enrique

34. SA JOURNAL OF RADIOLOGY • May 2004. Introduction. Anomalous origin of the right ver- tebral artery from the distal part of the aortic arch is very rare and is discov- ered as an incidental finding during an angiographic study or in laborato- ry specimens. It has been suggested that these anomalies are of diagnostic.

[Research funding for rare diseases in Germany].

Science.gov (United States)

Wissing, Frank; Bruckner-Tuderman, Leena

2017-05-01

There is high need for more research in the field of rare diseases. Not only must the causes and mechanisms of the numerous and often heterogeneous diseases be delineated, but criteria must also be defined for optimal stratification of patients for individualized therapies. In this context, research and innovative diagnostics are linked together more closely than in other fields of medicine. The early stages of disease-oriented research can be performed in individual institutions but, due to low numbers of patients, late translation and transfer into clinics requires multicentric and international collaboration. In Germany research on rare diseases takes place mostly in faculties of medicine at universities. Since the institutional financial support is very low, research grants have substantial significance. The German Research Foundation (DFG) and the Federal Ministry of Education and Research (BMBF) are the main grant agencies for national projects, but foundations and patient advocacy groups also finance research to a certain extent. The ERA-Net "E-Rare" and the programs of the EU target primarily international cross-border projects and patient trials. All of these programs need to be adapted more efficiently to the particular needs of rare disease research. For national and international research projects on rare diseases, sufficient funds are needed but also sustainable interdisciplinary platforms and centers must be established in order to share expert knowledge and to implement complex programs such as proof-of-concept studies in humans.

Fetal exposure in diagnostic radiology

International Nuclear Information System (INIS)

Baker, M.L.; Vandergrift, J.F.; Dalrymple, G.V.

1979-01-01

The problem of possible radiation damage to the fetus or embryo as a result of diagnostic radiography during pregnancy, particularly in the early stages, is discussed. Recommendations of therapeutic abortion after fetal exposure require an adequate knowledge of the doses involved. In the absence of actual dose measurements or estimates, approximate exposure levels may be determined from the literature. A summary of published values for radiography involving the lower abdomen is given. Data is also presented from a series of fetal exposures resulting mostly from routine diagnostic radiography when pregnancy was not known at the time but was established later. Results of actual dose measurements using a phantom and of dose calculations based on published values are in reasonable agreement indicating that literature values of dose provide a satisfactory alternative to measurement. These data suggest that diagnostic radiography rarely, if ever, results in fetal exposures high enough to justify therapeutic abortion. (author)

Identifying Potential Child Abuse through Oral Examination

Directory of Open Access Journals (Sweden)

Jillian N. Printz

2017-01-01

Full Text Available Limited reports of oropharyngeal trauma exist in the literature even though this type of injury is extremely common in pediatric populations. There are no widely agreed upon diagnostic and management tools for such injuries in abuse cases, emphasizing the importance of reporting rare cases of orofacial trauma. This case report of a soft palate laceration demonstrates an instance of initially unrecognized potential child abuse. We aim to clarify understanding of such injuries. Furthermore, the report highlights the need for recognition of oral signs of child abuse in order to promote early detection, reporting, and appropriate management.

Solar wind and magnetosphere plasma diagnostics by spacecraft electrostatic potential measurements

Directory of Open Access Journals (Sweden)

A. Pedersen

1995-02-01

Full Text Available Several satellites (GEOS-1, GEOS-2, ISEE-1, Viking and CRRES carried electric field experiments on which probes were driven by a current from the satellite to be close to the plasma potential. The potential difference between an electric field probe and its spacecraft (with conductive surfaces can be used to determine the ambient electron density and/or electron flux with limited accuracy but with high time resolution, of the order of 10-100 ms. It is necessary for the development of this diagnostic method to understand the photoemission characteristics of probes and satellites. According to the electric field experiments on the above-mentioned satellites, all materials develop very similar photoemission properties when they are beyond the influence of atmospheric oxygen. The photoelectron yield steadily increases over the first few months in space and reaches values well above those measured on clean surfaces in the laboratory. The method can be used for solar radiation levels corresponding to distances from 0.4 to 5 AU from the Sun.

Flow Cytometry Method as a Diagnostic Tool for Pleural Fluid Involvement in a Patient with Multiple Myeloma

Directory of Open Access Journals (Sweden)

Muzaffer Keklik

2012-10-01

Full Text Available Multiple myeloma is a malignant proliferation of plasma cells that mainly affects bone marrow. Pleural effusions secondary to pleural myelomatous involvement have rarely been reported in the literature. As it is rarely detected, we aimed to report a case in which pleural effusion of a multiple myeloma was confirmed as true myelomatous involvement by flow cytometry method. A 52-years old man presented to our clinic with chest and back pain lasting for 3 months. On the chest radiography, pleural fluid was detected in left hemithorax. Pleural fluid flow cytometry was performed. In the flow cytometry, CD56, CD38 and CD138 found to be positive, while CD19 was negative. True myelomatous pleural effusions are very uncommon, with fewer than 100 cases reported worldwide. Flow cytometry is a potentially useful diagnostic tool for clinical practice. We presented our case; as it has been rarely reported, although flow cytometer is a simple method for detection of pleural fluid involvement in multiple myeloma.

Using Meta-Analysis to Inform the Design of Subsequent Studies of Diagnostic Test Accuracy

Science.gov (United States)

Hinchliffe, Sally R.; Crowther, Michael J.; Phillips, Robert S.; Sutton, Alex J.

2013-01-01

An individual diagnostic accuracy study rarely provides enough information to make conclusive recommendations about the accuracy of a diagnostic test; particularly when the study is small. Meta-analysis methods provide a way of combining information from multiple studies, reducing uncertainty in the result and hopefully providing substantial…

Facial Nerve Schwannoma of the Cerebellopontine Angle: A Diagnostic Challenge

OpenAIRE

Lassaletta, Luis; Roda, José María; Frutos, Remedios; Patrón, Mercedes; Gavilán, Javier

2002-01-01

Facial nerve schwannomas are rare lesions that may involve any segment of the facial nerve. Because of their rarity and the lack of a consistent clinical and radiological pattern, facial nerve schwannomas located at the cerebellopontine angle (CPA) and internal auditory canal (IAC) represent a diagnostic and therapeutic challenge for clinicians. In this report, a case of a CPA/IAC facial nerve schwannoma is presented. Contemporary diagnosis and management of this rare lesion are analyzed.

Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis

Energy Technology Data Exchange (ETDEWEB)

Thomas, Anna K. [University of Tennessee Health Science Center, Department of Radiology, Le Bonheur Children' s Hospital, Memphis, TN (United States); Egelhoff, John C.; Curran, John G. [Phoenix Children' s Hospital, Department of Radiology, Phoenix, AZ (United States); Thomas, Bobby

2016-03-15

Schwannomatosis is the third major form of neurofibromatosis, distinct from neurofibromatosis type 2 (NF2) and type 1 (NF1). This condition is rare with a variable phenotypic presentation and complex molecular and genetic findings. In this case, a previously healthy teenager was found to have multiple spinal lesions and an enhancing right parotid mass on MRI. On extensive further work-up, this patient met the existing clinical criteria for schwannomatosis. This case report aims to review the clinical features and current diagnostic criteria for schwannomatosis and compare it to NF1 and NF2. Special emphasis will be placed on imaging features that should prompt the radiologist to suggest this rare diagnosis. (orig.)

Septic Mesenteric Venous Thrombophlebitis: A Rare Complication of Acute Appendicitis

Directory of Open Access Journals (Sweden)

Stylianos Kykalos

2011-01-01

Full Text Available Mesenteric venous thrombophlebitis represents a very rare complication of acute appendicitis. Based on the findings of a 45-year-old patient with mesenteric venous thrombophlebitis due to acute appendicitis, we herein describe the diagnostic difficulties and therapeutic options in this uncommon disease. The treatment in our case consisted of simple appendectomy and perioperative anticoagulation therapy.

Mining for diagnostic information in body surface potential maps: A comparison of feature selection techniques

Directory of Open Access Journals (Sweden)

McCullagh Paul J

2005-09-01

Full Text Available Abstract Background In body surface potential mapping, increased spatial sampling is used to allow more accurate detection of a cardiac abnormality. Although diagnostically superior to more conventional electrocardiographic techniques, the perceived complexity of the Body Surface Potential Map (BSPM acquisition process has prohibited its acceptance in clinical practice. For this reason there is an interest in striking a compromise between the minimum number of electrocardiographic recording sites required to sample the maximum electrocardiographic information. Methods In the current study, several techniques widely used in the domains of data mining and knowledge discovery have been employed to mine for diagnostic information in 192 lead BSPMs. In particular, the Single Variable Classifier (SVC based filter and Sequential Forward Selection (SFS based wrapper approaches to feature selection have been implemented and evaluated. Using a set of recordings from 116 subjects, the diagnostic ability of subsets of 3, 6, 9, 12, 24 and 32 electrocardiographic recording sites have been evaluated based on their ability to correctly asses the presence or absence of Myocardial Infarction (MI. Results It was observed that the wrapper approach, using sequential forward selection and a 5 nearest neighbour classifier, was capable of choosing a set of 24 recording sites that could correctly classify 82.8% of BSPMs. Although the filter method performed slightly less favourably, the performance was comparable with a classification accuracy of 79.3%. In addition, experiments were conducted to show how (a features chosen using the wrapper approach were specific to the classifier used in the selection model, and (b lead subsets chosen were not necessarily unique. Conclusion It was concluded that both the filter and wrapper approaches adopted were suitable for guiding the choice of recording sites useful for determining the presence of MI. It should be noted however

Peripheral Presentation of Periapical Cyst: A Rare Finding

OpenAIRE

Nilesh Kumar; Sameer A Zope; Mohan S Sannale

2015-01-01

Periapical cyst is a slow growing dental cyst, which is discove­ red on routine intraoral radiograph or cause localized intra­ osseous jaw swelling. It is typically found at root apex of the involved tooth and is discovered on routine radiography. This paper reports a rare presentation of periapical cyst. The cyst was localized in the premaxillary subcutaneous tissue, causing diagnostic difficulty. The steps in diagnosis of the lesion are also discussed

Rare diseases in clinical endocrinology: a taxonomic classification system.

Science.gov (United States)

Marcucci, G; Cianferotti, L; Beck-Peccoz, P; Capezzone, M; Cetani, F; Colao, A; Davì, M V; degli Uberti, E; Del Prato, S; Elisei, R; Faggiano, A; Ferone, D; Foresta, C; Fugazzola, L; Ghigo, E; Giacchetti, G; Giorgino, F; Lenzi, A; Malandrino, P; Mannelli, M; Marcocci, C; Masi, L; Pacini, F; Opocher, G; Radicioni, A; Tonacchera, M; Vigneri, R; Zatelli, M C; Brandi, M L

2015-02-01

Rare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to endocrinologists involve all fields of endocrinology, including rare diseases of the pituitary, thyroid and adrenal glands, paraganglia, ovary and testis, disorders of bone and mineral metabolism, energy and lipid metabolism, water metabolism, and syndromes with possible involvement of multiple endocrine glands, and neuroendocrine tumors. Taking advantage of the constitution of a study group on REMD within the Italian Society of Endocrinology, consisting of basic and clinical scientists, a document on the taxonomy of REMD has been produced. This document has been designed to include mainly REMD manifesting or persisting into adulthood. The taxonomy of REMD of the adult comprises a total of 166 main disorders, 338 including all variants and subtypes, described into 11 tables. This report provides a complete taxonomy to classify REMD of the adult. In the future, the creation of registries of rare endocrine diseases to collect data on cohorts of patients and the development of common and standardized diagnostic and therapeutic pathways for each rare endocrine disease is advisable. This will help planning and performing intervention studies in larger groups of patients to prove the efficacy, effectiveness, and safety of a specific treatment.

Herpes zoster infection: a rare cause of acute urinary retention.

Science.gov (United States)

Chan, Jonathan E; Kapoor, Anil

2003-06-01

Herpes zoster (HZ) infection has been reported as a rare cause of acute urinary retention. HZ infection involving sacral, thoracolumbar, and rarely high thoracic dermatomes is believed to occasionally cause motor and sensory neuropathy of the bladder. This is specifically achieved by the interruption of the detrusor reflex causing subsequent bladder atonia. As the course and management of this entity is quite benign, HZ should remain a diagnostic consideration in the management of urinary retention. We report a case of acute urinary retention of approximately 2.5 liters associated with HZ infection and review the proposed pathogenesis and therapeutic considerations in the management of this entity.

Enzymatic approaches to rare sugar production.

Science.gov (United States)

Zhang, Wenli; Zhang, Tao; Jiang, Bo; Mu, Wanmeng

Rare sugars have recently attracted much attention because of their potential applications in the food, nutraceutical, and pharmaceutical industries. A systematic strategy for enzymatic production of rare sugars, named Izumoring, was developed >10years ago. The strategy consists of aldose-ketose isomerization, ketose C-3 epimerization, and monosaccharide oxidation-reduction. Recent development of the Izumoring strategy is reviewed herein, especially the genetic approaches to the improvement of rare sugar-producing enzymes and the applications of target-oriented bioconversion. In addition, novel non-Izumoring enzymatic approaches are also summarized, including enzymatic condensation, phosphorylation-dephosphorylation cascade reaction, aldose epimerization, ulosonic acid decarboxylation, and biosynthesis of rare disaccharides. Copyright © 2017 Elsevier Inc. All rights reserved.

The Confidence-Accuracy Relationship in Diagnostic Assessment: The Case of the Potential Difference in Parallel Electric Circuits

Science.gov (United States)

Saglam, Murat

2015-01-01

This study explored the relationship between accuracy of and confidence in performance of 114 prospective primary school teachers in answering diagnostic questions on potential difference in parallel electric circuits. The participants were required to indicate their confidence in their answers for each question. Bias and calibration indices were…

Primary mammary tuberculosis: Clinical diagnostic dilemma

Directory of Open Access Journals (Sweden)

Sunder Goyal

2015-09-01

Conclusion: Breast Tuberculous is uncommon in countries where incidence of pulmonary and extrapulmonary tuberculosis is very high. It continues to pose a diagnostic challenge due to its rarity, atypical clinical features and non confirmatory radiological modalities. Unnecessary mastectomy can be avoided if we keep this rare but medically treatable condition on back of our mind. [Arch Clin Exp Surg 2015; 4(3.000: 153-156

Rare earths: harvesting basic research for technology

International Nuclear Information System (INIS)

Jagatap, B.N.

2014-01-01

In recent years, rare earths are increasingly becoming a versatile platform for basic research that presents enormous technological potentials. A variety of nano-sized inorganic matrices varying from oxides, phosphates, gallates and aluminates, tungstates, stannates, vanadates to fluorides doped with different lanthanide ions have been synthesized and their optical properties have been investigated in the Chemistry Group, BARC. Another interesting application is laser cooling of solids using rare earth doped glasses with potential applications in remote cooling of electronic devices. Combining the luminescence properties of rare earths with photonic crystals is yet another potent area with wide ranging applications. In this presentation we provide an overview of these developments with examples from the R and D programs of the Chemistry Group, BARC

Diagnostic pitfalls associated with a large true posterior communicating artery aneurysm: a case report.

Science.gov (United States)

Nagatani, Kimihiro; Otani, Naoki; Seno, Soichiro; Takeuchi, Satoru; Wada, Kojiro; Mori, Kentaro

2013-10-01

True posterior communicating artery (PCoA) aneurysm is an aneurysm that originates from the PCoA, and large or giant true PCoA aneurysms are rare. We report a case of a large true PCoA aneurysm successfully clipped after anterior clinoidectomy and discuss the diagnostic pitfalls associated with this rare clinical entity.

Extraskeletal myxoid chondrosarcoma presenting as an intradural spinal mass: report of a rare clinical presentation with an emphasis on differential diagnostic considerations

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Priya Rao

2014-12-01

Full Text Available Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm that occurs predominantly in the soft tissues of the lower extremities. Herein we present a case of a 29 year old male who presented with bilateral femoral numbness believed to be the result of prior injury to his back. A magnetic resonance imaging revealed a mass in the T4-T5 epidural space compressing the spinal cord. Laminectomy was performed and the lesion removed piecemeal. The pathology specimen consisted of multiple fragments of dura involved by a myxoid neoplasm with a nodular growth pattern. The tumor cells were arranged in anastomosing cords and strands. Individual tumor cells were small, of uniform size and shape, with small hyperchromatic nuclei and scant eosinophilic cytoplasm. Immunohistochemical stains were performed which showed the tumor cells were diffusely positive for vimentin and focally positive for EMA, S-100 protein and cytokeratin, whereas they were negative for CD34 and CD99. Fluorescence in situ hybridization (FISH studies showed a clonal population of cells with re-arrangement of the EWSR1 locus, confirming the histologic impression of extraskeletal myxoid chondrosarcoma. This is the first report of a case of an extraskeletal myxoid chondrosarcoma arising from the dura, confirmed to have rearrangement of the EWSR1 gene by FISH. There have only been two other cases of dural based extraskeletal myxoid chondrosarcoma reported prior to our case. We also briefly review the published literature and discuss differential diagnostic considerations for this rare tumor.

Bouveret's Syndrome: diagnostic considerations

International Nuclear Information System (INIS)

Cooper, S.G.; Sherman, S.B.; Steinhardt, J.E.; Wilson, J.M. Jr.; Richman, A.H.

1987-01-01

Bouveret's syndrome is a rare disease entity manifested by the formation of a cholecystoduodenal or choledochoduodenal fistula with passage of a gallstone into the duodenal bulb and subsequent obstruction of the gastric outlet. To date, no report of this entity using computed tomographic (CT) imaging is available. This article presents a case of Bouveret's syndrome with the classic findings on upper gastrointestinal (GI) tract series and a description of the CT manifestations. The literature is reviewed with discussion of the diagnostic approach to patients with Bouveret's syndrome

[Tropheryma whipplei and Whipple disease: false positive PCR detections of Tropheryma whipplei in diagnostic samples are rare].

Science.gov (United States)

Le Scanff, J; Gaultier, J B; Durand, D Vital; Durieu, I; Celard, M; Benito, Y; Vandenesch, F; Rousset, H

2008-11-01

PCR can be used to detect T. whipplei (Tw) in samples from variable tissue types and body fluids. We report clinical, evolutive characteristics and final diagnosis in patients with positive Tw PCR assay. Retrospective study of Tw PCR realized since 10years in a microbiology laboratory. Twenty-five Tw PCR assays were positive among 200 realized. Diagnosis was not confirmed in six cases. One patient was missing for follow up. Eighteen patients presented with Whipple's disease. Among these 18 patients, 14 had a classic Whipple's disease, three patients presented an endocarditis and one patient isolated neurological manifestations. Ten patients presented fever, seven a weight loss and 12 joint involvement. Four patients presented cutaneous manifestations, only six had gastrointestinal symptoms. Neurological involvement was reported in five cases, pulmonary symptoms in four cases, cardiac involvement in six cases and ocular signs in two cases. Anemia was reported in four patients and elevated levels of acute-phase reactants in 14 cases. Positive predictive value of Tw PCR for Whipple's disease diagnosis was 75%. Thirteen patients had a good evolution with antibiotics. Three patients presented recurrence and two cases with cardiovascular involvement died. Whipple's disease is rare but often mentioned in internist experience. The diagnosis should be every time confirmed. Tw PCR assay is an important diagnostic tool but is not sufficient to establish the diagnosis and must be interpreted with histopathology and immunohistochemical testing results.

Collective radiation dose from diagnostic x-ray examination in nine ...

African Journals Online (AJOL)

Bernt Lindtjorn

Conclusion: Although the use of ionizing radiation for diagnostic medical procedures is an acceptable ... It is estimated that the adoption of rare earth screen technology might reduce the ... coated in a smooth layer on a plastic support or card.

Mucoepidermoid carcinoma ex pleomorphic adenoma of the lacrimal gland: A rare presentation

Directory of Open Access Journals (Sweden)

Lily Daniel

2014-01-01

Full Text Available Carcinoma ex pleomorphic adenoma in lacrimal gland is a rare entity unlike its salivary gland counterpart. This rare tumor poses a diagnostic challenge to clinicians as pre-operative diagnosis is difficult and diagnosis is only by careful pathological assessment. We report this uncommon lesion in a 62-year-old lady, wherein the malignant component was mucoepidermoid carcinoma. The elderly patient remained clinically and radiologically free of the tumor for two years after complete excision of the tumor but computed tomography at the end of two and a half years showed a recurrent lesion in the region of the lacrimal gland. This makes long term follow up of patients with these rare lacrimal tumors imperative with a minimum period of at least five years.

Rare-earth-free high energy product manganese-based magnetic materials.

Science.gov (United States)

Patel, Ketan; Zhang, Jingming; Ren, Shenqiang

2018-06-14

The constant drive to replace rare-earth metal magnets has initiated great interest in an alternative. Manganese (Mn) has emerged to be a potential candidate as a key element in rare-earth-free magnets. Its five unpaired valence electrons give it a large magnetocrystalline energy and the ability to form several intermetallic compounds. These factors have led Mn-based magnets to be a potential replacement for rare-earth permanent magnets for several applications, such as efficient power electronics, energy generators, magnetic recording and tunneling applications, and spintronics. For past few decades, Mn-based magnets have been explored in many different forms, such as bulk magnets, thin films, and nanoparticles. Here, we review the recent progress in the synthesis and structure-magnetic property relationships of Mn-based rare-earth-free magnets (MnBi, MnAl and MnGa). Furthermore, we discuss their potential to replace rare-earth magnetic materials through the control of their structure and composition to achieve the theoretically predicted magnetic properties.

Rare earth - no case for government intervention

OpenAIRE

Georg Zachmann

2010-01-01

China has officially restricted exports of rare earth for several years and announced this year it will further tighten exports. Rare earth is a group of 17 different metals, usually found clustered together. These metals have hundreds of different industry applications. For example, they are used in certain high capacity magnets, batteries and lasers. As the rare earth elements are used in sectors that are assumed to have an over-proportionate growth potential (eg. green-technology), policy ...

[Acute renal failure: a rare presentation of Addison's disease].

Science.gov (United States)

Salhi, Houda

2016-01-01

Addison's disease is a rare condition. Its onset of symptoms most often is nonspecific contributing to a diagnostic and therapeutic delay. Acute renal failure can be the first manifestation of this disease. We report the case of a patient with Addison's disease who was initially treated for acute renal failure due to multiple myeloma and whose diagnosis was adjusted thereafter. Patient's condition dramatically improved after treatment with intravenous rehydration; injectable hydrocortisone.

Bilateral Facial Diplegia: A Rare Presenting Symptom of Lyme

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John Ashurst

2017-01-01

Full Text Available Lyme disease is a common disease that is faced by the physician but also acts a mimicker of many other disease processes. Facial palsies, especially bilateral, are a relatively rare presenting symptom of Lyme disease and may warrant further investigation. A thorough history and physical examination coupled with precision testing may aid the physician when faced with a patient with the diagnostic dilemma of facial diplegia.

Neonatal hemochromatosis and patent ductus venosus: clinical course and diagnostic pitfalls

Energy Technology Data Exchange (ETDEWEB)

Tsai, Andy; Paltiel, Harriet J.; Sena, Laureen M. [Children' s Hospital Boston and Harvard Medical School, Department of Radiology, Boston, MA (United States); Kim, Heung Bae; Fishman, Steven J. [Children' s Hospital Boston and Harvard Medical School, Department of Surgery, Boston, MA (United States); Alomari, Ahmad I. [Children' s Hospital Boston and Harvard Medical School, Department of Radiology, Boston, MA (United States); Children' s Hospital Boston, Division of Vascular and Interventional Radiology, Boston, MA (United States)

2009-08-15

Neonatal hemochromatosis is a rare metabolic disorder characterized by excessive iron deposition within the liver leading to hepatic failure and portal hypertension. We describe the clinical course and imaging findings in three infants with neonatal hemochromatosis associated with patent ductus venosus. We paid special attention to the diagnostic challenges encountered in these patients in order to emphasize some of the potential diagnostic pitfalls. We conducted a comprehensive search of our radiology database of the last 10 years (1999-2008) for the keywords ''neonatal hemochromatosis.'' Medical records and imaging studies of various modalities were reviewed. Three neonates were found to have neonatal hemochromatosis; all of them were associated with patent ductus venosus. Two of these patients were referred to our tertiary center for embolization of an inaccurately diagnosed hepatic vascular malformation. Two patients underwent successful liver transplantation and one died shortly after referral. The awareness and inclusion of neonatal hemochromatosis in the differential diagnosis of newborns with liver failure and patent ductus venosus has critical treatment implications. (orig.)

[Ocular myositis as a rare cause of vision loss].

Science.gov (United States)

Rollnik, J D; Requadt, H

2017-04-01

Ocular myositis is a rare disease characterized by painful diplopia but loss of vision rarely occurs. The article reviews the literature focusing on the differential diagnostics. We report the case of an 80-year-old women suffering from slowly progressive loss of vision in the left eye. Diplopia was only present at the beginning and there was only moderate pain. Computed tomography and magnetic resonance imaging revealed a swelling of the left medial, lateral and inferior rectus muscles of the orbit leading to compression of the optic nerve in the orbital cone. An intravenous prednisolone stoss therapy (1000 mg per day for 3 consecutive days) was initiated, followed by oral medication of 100 mg per day then tapering over 10 weeks. Vision improved and no relapses were observed. Physicians should be aware of this rare disease to ensure quick diagnosis and treatment of ocular myositis.

Is semen a useful diagnostic tool for rare infections of the central nervous system?

Directory of Open Access Journals (Sweden)

Siddiqui Ruqaiyyah

2012-12-01

Full Text Available Abstract Given that the blood-testis barrier is more permeable than the blood–brain barrier, the use of semen to detect rare parasitic antigens/infections of the CNS in males is hypothesized.

Gliomatosis cerebri: The diagnostic potential of MRI

International Nuclear Information System (INIS)

Rodiek, S.O.; Hufnagl, J.M.; Staedtisches Krankenhaus Muenchen-Bogenhausen

1991-01-01

Gliomatosis cerebri is a rare tumor of neuroepithelial origin in middle aged persons. MRI predominantly shows a bilateral and diffuse infiltration of midline adjacent brain structures including medulla. Areas with focal anaplasia occasionally reveal an accumulation of contrast media. The diffuse tumor manifestation requires a differentiation from encephalitis and demyelinating diseases with a similar distribution pattern of lesions. Three cases have been examined. In conclusion the performance of MRI including control and brain biopsy are indicated to establish an in vivo diagnosis. (orig./GDG) [de

Foreign body in the nasopharynx- A rare entity: a Case Report

Directory of Open Access Journals (Sweden)

Soumik Saha

2013-06-01

Full Text Available Abstract Nasopharynx is an exceptionally rare anatomical location for foreign body impactation . As an otorhinolaryngologist, one may face challenges in diagnosis and removal of foreign body from airways . A metallic foreign body after being inhaled and ultimately being lodged in the nasopharynx is a rare entity. We report a case of nasopharyngeal foreign body(NFB in a 1½ year old male child. The foreign body was diagnosed by diagnostic nasal endoscopy and documented by X-Ray of nasopharynx - lateral view [FIG.-2] and the same was removed under general anaesthesia. While keeping the child in Rose's position. Keywords foreign body nasopharynx

Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly

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Arshad Bhat, MBBS, DMRD

2016-06-01

Full Text Available Three case reports of a rare congenital anomaly “limb-body wall complex” also known as “body stalk syndrome” are presented with prenatal ultrasonographic diagnostic features, immediate after delivery evaluation, and histopathologic analysis.

The potential diagnostic power of circulating tumor cell analysis for non-small-cell lung cancer.

Science.gov (United States)

Ross, Kirsty; Pailler, Emma; Faugeroux, Vincent; Taylor, Melissa; Oulhen, Marianne; Auger, Nathalie; Planchard, David; Soria, Jean-Charles; Lindsay, Colin R; Besse, Benjamin; Vielh, Philippe; Farace, Françoise

2015-01-01

In non-small-cell lung cancer (NSCLC), genotyping tumor biopsies for targetable somatic alterations has become routine practice. However, serial biopsies have limitations: they may be technically difficult or impossible and could incur serious risks to patients. Circulating tumor cells (CTCs) offer an alternative source for tumor analysis that is easily accessible and presents the potential to identify predictive biomarkers to tailor therapies on a personalized basis. Examined here is our current knowledge of CTC detection and characterization in NSCLC and their potential role in EGFR-mutant, ALK-rearranged and ROS1-rearranged patients. This is followed by discussion of the ongoing issues such as the question of CTC partnership as diagnostic tools in NSCLC.

Investigation of the shape of the imaginary part of the optical-model potential for electron scattering by rare gases

International Nuclear Information System (INIS)

Staszewska, G.; Schwenke, D.W.; Truhlar, D.G.

1984-01-01

We present a comparative study of several empirical and nonempirical models for the absorption potential, which is the imaginary part of an optical-model potential, for electron scattering by rare gases. We show that the elastic differential cross section is most sensitive to the absorption potential for high-impact energy and large scattering angles. We compare differential cross sections calculated by several models for the absorption potential and by several arbitrary modifications of these model potentials. We are able to associate the effect of the absorption potential on the elastic differential cross section with its form at small electron-atom distances r, and we are able to deduce various qualitative features that the absorption potential must possess at small and large r in order to predict both accurate differential cross sections and accurate absorption cross sections. Based on these observations, the Pauli blocking conditions of the quasifree scattering model for the absorption potential are modified empirically, thus producing a more accurate model that may be applied to other systems; e.g., electron-molecule scattering, with no adjustable parameters

Primary Bladder Neurofibroma: A Rare Case with Clinical Implications and Diagnostic Challenges.

Science.gov (United States)

Umakanthan, Srikanth; Naik, Ramadas; Bukelo, Maryann Margaret; Rai, Sharada; Prabhu, Laxman

2015-09-01

Neurofibroma of the genito-urinary tract is rare. Urinary bladder is the commonest organ involved in cases of urinary tract involvement. Patients present early in life and there is male preponderance. We discuss here a case of primary neurofibroma of the urinary bladder in a 52-year-male presenting with haematuria, irritative bladder symptoms and pelvic mass. Cystoscopy showed a swelling in the left lateral wall. A transurethral biopsy revealed neurofibroma of the urinary bladder. Immunohistochemical studies confirmed the diagnosis.

A Rare Complication of Hyperplastic Gastric Polyp

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Suresh Kumar Nayudu

2013-01-01

Full Text Available Hyperplastic gastric polyps are incidentally diagnosed during upper gastrointestinal endoscopy. They are known to cause gastric outlet obstruction and chronic blood loss leading to iron deficiency anemia. However, hyperplastic gastric polyp presenting as acute severe upper gastrointestinal bleeding is very rare. To the best of our knowledge, there have been two cases of hyperplastic gastric polyps presenting as acute gastrointestinal bleeding in the medical literature. We present a case of a 56-year-old African American woman who was admitted to our hospital with symptomatic anemia and sepsis. The patient developed acute upper gastrointestinal bleeding during her hospital stay. She underwent emergent endoscopy, but bleeding could not be controlled. She underwent emergent laparotomy and wedge resection to control the bleeding. Biopsy of surgical specimen was reported as hyperplastic gastric polyp. We recommend that physicians should be aware of this rare serious complication of hyperplastic gastric polyps as endoscopic polypectomy has diagnostic and therapeutic benefits in preventing future complications including bleeding.

Update on diagnostic strategies of pulmonary embolism

International Nuclear Information System (INIS)

Kauczor, H.U.; Heussel, C.P.; Thelen, M.

1999-01-01

Acute pulmonary embolism is a frequent disease with non-specific findings, high mortality, and multiple therapeutic options. A definitive diagnosis must be established by accurate, non-invasive, easily performed, cost-effective, and widely available imaging modalities. Conventional diagnostic strategies have relied on ventilation-perfusion scintigraphy complemented by venous imaging. If the results are inconclusive, pulmonary angiography, which is regarded as the gold standard, is to be performed. Recently, marked improvements in CT and MRI and shortcomings of scintigraphy led to an update of the diagnostic strategy. Spiral CT is successfully employed as a second-line procedure to clarify indeterminate scintigraphic results avoiding pulmonary angiography. It can also be used as a first-line screening tool if service and expertise is provided. Venous imaging is indicated if CT is inconclusive. The MRI technique can be applied as an alternative second-line test if spiral CT is not available or is contraindicated. It has the greatest potential for further developments and refinements. Echocardiography should be used as a first-line bedside examination in critical patients. If inconclusive stabilized patients undergo spiral CT, unstable patients should be referred for pulmonary angiography. Chronic thromboembolic pulmonary hypertension is a rare sequela of acute pulmonary embolism which can be cured surgically. Morphology, complications, and differential diagnoses are better illustrated by spiral CT and MRA, whereas invasive acquisition of hemodynamic data is the sole advantage of angiography. (orig.)

DIFFERENTIAL DIAGNOSTICS MODEL RESEARCH BY MEANS OF THE POTENTIAL FUNCTIONS METHOD FOR NEUROLOGY DISEASES CLASSIFICATION

Directory of Open Access Journals (Sweden)

V. Z. Stetsyuk

2016-10-01

Full Text Available Informatization in medicine offers a lot of opportunities to enhance quality of medical support, accuracy of diagnosis and provides the use of accumulated experience. Modern program systems are utilized now as additional tools to get appropriate advice. This article offers the way to provide help for neurology department doctor of NCSH «OKHMATDYT» during diagnosis determining. It was decided to design the program system for this purpose based on differential diagnostic model. The key problems in differential diagnosis are symptoms similarity between each other in one disease group and the absence of key symptom. Therefore the differential diagnostic model is needed. It is constructed using the potential function method in characteristics space. This characteristics space is formed by 100-200 points - patients with their symptoms. The main feature of this method here is that the decision function is building during recognition step united with learning that became possible with the help of modern powerful computers.

A rare challenging case of co-existent craniopharyngioma, acromegaly and squamous cell lung cancer.

Science.gov (United States)

Fountas, Athanasios; Chai, Shu Teng; Ayuk, John; Gittoes, Neil; Chavda, Swarupsinh; Karavitaki, Niki

2018-01-01

Co-existence of craniopharyngioma and acromegaly has been very rarely reported. A 65-year-old man presented with visual deterioration, fatigue and frontal headaches. Magnetic resonance imaging revealed a suprasellar heterogeneous, mainly cystic, 1.9 × 2 × 1.9 cm mass compressing the optic chiasm and expanding to the third ventricle; the findings were consistent with a craniopharyngioma. Pituitary hormone profile showed hypogonadotropic hypogonadism, mildly elevated prolactin, increased insulin-like growth factor 1 (IGF-1) and normal thyroid function and cortisol reserve. The patient had transsphenoidal surgery and pathology of the specimen was diagnostic of adamantinomatous craniopharyngioma. Post-operatively, he had diabetes insipidus, hypogonadotropic hypogonadism and adrenocorticotropic hormone and thyroid-stimulating hormone deficiency. Despite the hypopituitarism, his IGF-1 levels remained elevated and subsequent oral glucose tolerance test did not show complete growth hormone (GH) suppression. Further review of the pre-operative imaging revealed a 12 × 4 mm pituitary adenoma close to the right carotid artery and no signs of pituitary hyperplasia. At that time, he was also diagnosed with squamous cell carcinoma of the left upper lung lobe finally managed with radical radiotherapy. Treatment with long-acting somatostatin analogue was initiated leading to biochemical control of the acromegaly. Latest imaging has shown no evidence of craniopharyngioma regrowth and stable adenoma. This is a unique case report of co-existence of craniopharyngioma, acromegaly and squamous lung cell carcinoma that highlights diagnostic and management challenges. Potential effects of the GH hypersecretion on the co-existent tumours of this patient are also briefly discussed. Although an extremely rare clinical scenario, craniopharyngioma and acromegaly can co-exist; aetiopathogenic link between these two conditions is unlikely.Meticulous review of unexpected

Dissecting aneurysms of posterior communicating artery itself: anatomical, diagnostic, clinical, and therapeutical considerations.

Science.gov (United States)

Kocak, Burak; Tureci, Ercan; Kizilkilic, Osman; Islak, Civan; Kocer, Naci

2013-09-01

Posterior communicating artery (PCoA) itself is an unusual location for intracranial aneurysms in that isolated dissections or dissecting aneurysms are extremely rare. In the way of correct diagnosis of dissecting aneurysms of PCoA itself, a proper understanding of (1) the anatomy of the PCoA and its perforator branches, (2) some particular diagnostic features, and (3) related clinical aspects is of significant importance. Although there are no established treatment strategies for this particular type of aneurysms, the endovascular approach might be considered as a plausible one. In this paper, our scope was to report five cases with dissecting aneurysm of the PCoA itself and to discuss this rare vascular pathology from anatomical, diagnostic, clinical, and therapeutical perspectives.

Infrared and Raman investigation of rare-earth phosphate glasses for potential use as radioactive waste forms

International Nuclear Information System (INIS)

Morgan, S.H.

1989-01-01

This project was designed to investigate the properties of the rare-earth phosphate glass systems CeO 2 -P 2 O 5 and Pr 2 O 3 -P 2 O 5 for potential use as radioactive waste glasses. The glass-forming region and optimum processing parameters of these glass systems were investigated. The structure of the host glasses and glassed loaded with simulated waste elements was investigated using Raman and infrared spectroscopy. Because of the radical differences in the spectra of the molybdenum-loaded glasses, the structure of the MoO 3 -P 2 O 5 glass system was also investigated. 29 refs., 8 figs., 2 tabs

A rare case of chondroblastioma of the proximal tibia

International Nuclear Information System (INIS)

Gecov, P.; Terziev, I.; Hristoskova, R.; Georgiev, G.; Kinov, P.; Tivchev, P.

2011-01-01

The authors report a rare case of chondroblastoma which was localised in the proximal tibial epiphysis in a 14-year-old boy. The lesion was evaluated with routine roentgenography and computer tomography. The imaging techniques revealed eccentric lesion, predominantly in the medial part of the bone, periosteal reaction in the metaphysic, calcification and sclerosis. After diagnostic evaluation including biopsy, the lesion was treated surgically with curettage and grafting. He was followed up for two years with routine radiographs and physical examination. Two years after surgery the patient had no recurrence, no pain and had nearly full range of motion of the knee. Roentgenographic characteristics of the disease as well as differential diagnostics are discussed. In conclusion, imaging techniques should be supplemented with an open biopsy for the final diagnosis.

Riedel thyroiditis: Fine needle aspiration findings of a rare entity.

Science.gov (United States)

Weidner, Anna-Sophie; Molina, David; DeSimone, Robert A; Cohen, Marc A; Giorgadze, Tamar; Scognamiglio, Theresa; Hoda, Rana S

2015-09-01

Riedel thyroiditis is a rare fibrosing disorder characterized by extension of the fibroinflammatory process beyond the thyroid capsule. Due to the nature of this lesion, fine-needle aspiration often yields scant material and may be interpreted as non-diagnostic. In this report, we describe cytologic features that allow the cytopathologist to favor a diagnosis of Riedel thyroiditis, thereby guiding appropriate further work-up and management. © 2015 Wiley Periodicals, Inc.

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

Science.gov (United States)

Billingham, Lucinda; Malottki, Kinga; Steven, Neil

2016-02-01

Rare cancers are a growing group as a result of reclassification of common cancers by molecular markers. There is therefore an increasing need to identify methods to assess interventions that are sufficiently robust to potentially affect clinical practice in this setting. Methods advocated for clinical trials in rare diseases are not necessarily applicable in rare cancers. This Series paper describes research methods that are relevant for rare cancers in relation to the range of incidence levels. Strategies that maximise recruitment, minimise sample size, or maximise the usefulness of the evidence could enable the application of conventional clinical trial design to rare cancer populations. Alternative designs that address specific challenges for rare cancers with the aim of potentially changing clinical practice include Bayesian designs, uncontrolled n-of-1 trials, and umbrella and basket trials. Pragmatic solutions must be sought to enable some level of evidence-based health care for patients with rare cancers. Copyright © 2016 Elsevier Ltd. All rights reserved.

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

NARCIS (Netherlands)

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

2011-01-01

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

Rare earth industries: Downstream business

International Nuclear Information System (INIS)

2011-01-01

The value chain of the rare earths business involves mining, extraction, processing, refining and the manufacture of an extensive range of downstream products which find wide applications in such industries including aerospace, consumer electronics, medical, military, automotive, renewable wind and solar energy and telecommunications. In fact the entire gamut of the high-tech industries depends on a sustainable supply of rare earths elements. The explosive demand in mobile phones is an excellent illustration of the massive potential that the rare earths business offers. In a matter of less than 20 years, the number of cell phones worldwide has reached a staggering 5 billion. Soon, going by the report of their growth in sales, the world demand for cell phones may even exceed the global population. Admittedly, the rare earths business does pose certain risks. Top among the risks are the health and safety risks. The mining, extraction and refining of rare earths produce residues and wastes which carry health and safety risks. The residues from the extraction and refining are radioactive, while their effluent waste streams do pose pollution risks to the receiving rivers and waterways. But, as clearly elaborated in a recent report by IAEA experts, there are technologies and systems available to efficiently mitigate such risks. The risks are Rare Earth manageable. However, it is crucial that the risk and waste management procedures are strictly followed and adhered to. This is where effective monitoring and surveillance throughout the life of all such rare earths facilities is crucial. Fortunately, Malaysia's regulatory standards on rare earths follow international standards. In some areas, Malaysia's regulatory regime is even more stringent than the international guidelines. (author)

Recent advances in syntheses and biomedical applications of nano-rare earth metal-organic framework materials

Directory of Open Access Journals (Sweden)

Xin Pengyan

2017-12-01

Full Text Available In recent years,the syntheses of nano-rare earth metal-organic framework (MOF materials and their applications in biomedicine,especially in the diagnosis and treatment of cancer have attracted extensive attentions.On the one hand,nano-rare earth MOFs,which have unique optical and magnetic properties,are promising multimodal imaging contrast agents for biomedical imaging,such as fluorescence imaging and magnetic resonance imaging.On the other hand,nano-rare earth MOFs have various compositions and structures,and excellent intrinsic properties such as large specific surface area,high pore volume and tunable pore size,which enable them to perform as promising nanoplatforms for drug delivery.Therefore,nano-rare earth MOFs may provide a new platform for the development of diagnostic and therapeutic reagents.In this article,the recent advances in the syntheses of nano-rare earth MOFs and their applications in biomedicine are summarized.

Echocardiographic diagnosis of rare pathological patterns of sinus of Valsalva aneurysm.

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Yali Yang

Full Text Available To evaluate the value and improve the diagnostic accuracy of echocardiography in the diagnosis of a sinus of Valsalva aneurysm (SVA with rare pathological patterns.Echocardiographic features and surgical findings from 270 Chinese patients with SVA treated in the last 18 years (1995-2013 at the Union Hospital were compared retrospectively; 22 of 270 cases had rare patterns.The patients with SVA, a rare origin, a rare extending position, or a rare course accounted for 3.4%, 7.4%, and 0.4% of the 270 cases, respectively. The three most common aneurysmal complications of the patients with rare patterns were severe aortic regurgitation (16, obstruction of the ventricular outflow tract or valvular orifice (3, and conduction disturbance (3. The origin, course, extending position and rupture status of the SVAs determined by echocardiography were entirely consistent with surgical findings in 81.8% of the 22 cases. With the exception of one failed diagnosis of an aneurysmal wall dissection and one misdiagnosis of a descending aortic dissection, the echocardiographic results of SVA complications and associated cardiovascular lesions were also confirmed.We could accurately diagnose SVAs with rare pathological patterns by echocardiographic identification of distinguishing features. However, for several conditions, we could not accurately identify the origin or course of the aneurysm or define its relationship to adjacent structures using conventional echocardiography alone. Therefore, we recommend combining conventional echocardiography with different imaging techniques, such as transesophageal echocardiography, three-dimensional echocardiography, computed tomography angiography, and aortic angiography.

Diagnostic radiology and therapy of colovesical fistulas: A survey

International Nuclear Information System (INIS)

Malcher, J.; Mosser, H.; Bach, A.; Hruby, W.; Maier, U.

1998-01-01

Ureterouterine fistulas are rare in occurrence and in most cases are a complication caused by preceding manipulations, or other diseases. For treatment strategy decisions, exact information is required relating to localisation of the lesion, its etiology, time of manifestation and diagnostic detection. Diagnostic evaluation has to be done by interdisciplinary collaboration by a radiologist and the clinical expert(s). The progress made in tomographic examination techniques enables increasingly exact and sometimes earlier diagnosis. Formerly, surgery was the only method of treatment, but today uroradiological combined with interventional treatment is the method of choice. (orig./CB) [de

Hyperinsulinaemic hypoglycaemia - a diagnostic challenge. A report of two atypical cases.

Directory of Open Access Journals (Sweden)

Renata Baronaite Hansen

2015-07-01

Patient 2 was diagnosed with a benign insulinoma and 5 years later with metastatic disease. Conclusion: The authors conclude that insulinomas are rare entities which often present a diagnostic and therapeutic challenge. In such cases, patient referral to tertiary multidisciplinary centers is recommended.

Changing Profiles of Diagnostic and Treatment Options in Subclavian Artery Aneurysms

NARCIS (Netherlands)

Vierhout, B. P.; Zeebregts, C. J.; van den Dungen, J. J. A. M.; Reijnen, M. M. P. J.

Background: Subclavian artery aneurysms (SAAs) are rare and may cause life- and limb-threatening complications. Therapeutic options greatly differ as do access alternatives. The aim of the study was to assess its clinical presentation, diagnostics and therapeutic options as reported in the

Reducing Cognitive Skill Decay and Diagnostic Error: Theory-Based Practices for Continuing Education in Health Care

Science.gov (United States)

Weaver, Sallie J.; Newman-Toker, David E.; Rosen, Michael A.

2012-01-01

Missed, delayed, or wrong diagnoses can have a severe impact on patients, providers, and the entire health care system. One mechanism implicated in such diagnostic errors is the deterioration of cognitive diagnostic skills that are used rarely or not at all over a prolonged period of time. Existing evidence regarding maintenance of effective…

Comparison of the effect of soft-core potentials and Coulombic potentials on bremsstrahlung during laser matter interaction

Science.gov (United States)

Pandit, Rishi R.; Becker, Valerie R.; Barrington, Kasey; Thurston, Jeremy; Ramunno, Lora; Ackad, Edward

2018-04-01

An intense, short laser pulse incident on rare-gas clusters can produce nano-plasmas containing energetic electrons. As these electrons undergo scattering, from both phonons and ions, they emit bremsstrahlung radiation. Here, we compare a theory of bremsstrahlung emission appropriate for the interaction of intense lasers with matter using soft-core potentials and Coulombic potentials. A new scaling for the radiation cross-section and the radiated power via bremsstrahlung is derived for a soft-core potential (which depends on the potential depth) and compared with the Coulomb potential. Calculations using the new scaling are performed for electrons in vacuum ultraviolet, infrared and mid-infrared laser pulses. The radiation cross-section and the radiation power via bremsstrahlung are found to increase rapidly with increases in the potential depth of up to around 200 eV and then become mostly saturated for larger depths while remaining constant for the Coulomb potential. In both cases, the radiation cross-section and the radiation power of bremsstrahlung decrease with increases in the laser wavelength. The ratio of the scattering amplitude for the soft-core potential and that for the Coulombic potential decreases exponentially with an increase in momentum transfer. The bremsstrahlung emission by electrons in plasmas may provide a broadband light source for diagnostics.

Essential thrombocythemia: a rare disease in childhood

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Julia Maimone Beatrice

2013-01-01

Full Text Available Essential thrombocythemia is an acquired myeloproliferative disorder characterized by the proliferation of megakaryocytes in bone marrow, leading to a persistent increase in the number of circulating platelets and thus increasing the risk for thrombotic and hemorrhagic events. The disease features leukocytosis, splenomegaly, vascular occlusive events, hemorrhages and vasomotor disorders. The intricate mechanisms underlying the molecular pathogenesis of this disorder are not completely understood and are still a matter of discussion. Essential thrombocythemia is an extremely rare disorder during childhood. We report on a case of essential thrombocythemia in a child and discuss the diagnostic approach and treatment strategy.

Genomic diagnostics leading to the identification of a TFG-ROS1 fusion in a child with possible atypical meningioma

DEFF Research Database (Denmark)

Rossing, Maria; Yde, Christina Westmose; Sehested, Astrid

2017-01-01

Meningiomas are rare in children. They are highly complex, harboring unique clinical and pathological characteristics, and many occur in patients with neurofibromatosis type 2. Hereby, we present a case of a two-year-old boy presented with a diagnostically challenging intraventricular tumor...... molecular finding allowed the potential use of precision medicine and the patient was enrolled in the AcSé phase 2 trial with crizotinib (NCT02034981), leading to a prolonged partial tumor response which is persisting since 14 months. This case highlights the value of precision cancer medicine in children....

[Primary malignant melanoma of the central nervous system: A diagnostic challenge].

Science.gov (United States)

Quillo-Olvera, Javier; Uribe-Olalde, Juan Salvador; Alcántara-Gómez, Leopoldo Alberto; Rejón-Pérez, Jorge Dax; Palomera-Gómez, Héctor Guillermo

2015-01-01

The rare incidence of primary malignant melanoma of the central nervous system and its ability to mimic other melanocytic tumors on images makes it a diagnostic challenge for the neurosurgeon. A 51-year-old patient, with a tumor located in the right forniceal callosum area. Total surgical excision was performed. Histopathological result was consistent with the diagnosis of primary malignant melanoma of the central nervous system, after ruling out extra cranial and extra spinal melanocytic lesions. The primary malignant melanoma of the central nervous system is extremely rare. There are features in magnetic resonance imaging that increase the diagnostic suspicion; nevertheless there are other tumors with more prevalence that share some of these features through image. Since there is not an established therapeutic standard its prognosis is discouraging. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

Splenic abscess: a rare presentation

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Mohit Bhatia

2015-01-01

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

Infratemporal fossa extension of primary parotid squamous cell carcinoma: a rare entity with diagnosis dilemma

International Nuclear Information System (INIS)

Karaf, J.H.; Gendeh, B.S.; Yunus, M.R.M.

2015-01-01

Primary squamous cell carcinoma of parotid gland is rare but it is an aggressive neoplasm that can have extension into the infratemporal fossa. We report a 60-year-old female presenting with toothache over left lower molar causing a diagnostic dilemma. (author)

Granulomatous mastitis — a diagnostic dilemma

OpenAIRE

Mote, Dajiram G.; Gungi, Raghavendra P.; Satyanarayana, V.; Premsunder, T.

2008-01-01

Granulomatous lobular mastitis is a rare benign breast disease. It is characterized by chronic, non-caseating granulomatous lobulitis. It may be misdiagnosed as a carcinoma of the breast and may lead to mastectomy. Diagnostic criteria include-A) Granulomatous infl ammation with multinucleated giant cells, epithelioid histiocytes. B) It is centered on lobules with minor ductal and periductal infl ammation. C) It nearly always follows the pregnancy. A case of GLM, which was treated with local e...

An Unusual Endovascular Therapeutic Approach for a Rare Case of May-Thurner Syndrome.

Science.gov (United States)

DaSilva-DeAbreu, Adrian; Masha, Luke; Peerbhai, Shareez

2017-03-06

BACKGROUND The etiology of deep venous thrombosis (DVT) may pose a significant diagnostic challenge because truly reversible causes of DVT are rare. In this regard, known pelvic anatomic abnormalities such as aortic and iliac aneurysms should be seriously considered as a complicating factor in patients presenting with acute DVT so as not to miss a potentially curable etiology of May-Thurner syndrome (MTS). CASE REPORT We report the case of a 69-year-old man with a known abdominal aortic aneurysm and bilateral iliac artery aneurysms who presented with an acute DVT. A computed tomography scan of the abdomen and pelvis showed increased dilation of his aneurysmal disease with new resultant compression of the left iliac vein representing acquired MTS. The patient underwent endovascular aneurysm repair of the infra-renal abdominal aortic aneurysm and right common iliac artery aneurysm with a Gore Excluder endoprosthesis in lieu of venous stenting, with resolution of symptoms. CONCLUSIONS Infra-renal aortic and iliac aneurysms causing MTS are extremely rare, and patients at risk for MTS through these mechanisms do not fit the classical demographics associated with this syndrome. Furthermore, this is the first case described in which MTS was treated by addressing the aneurysm through an endoprosthetic approach instead of venous stenting, which is the conventional intervention for MTS.

A Rare Stapes Abnormality

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Hala Kanona

2015-01-01

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

Implementation of Targeted Next Generation Sequencing in Clinical Diagnostics

DEFF Research Database (Denmark)

Larsen, Martin Jakob; Burton, Mark; Thomassen, Mads

Accurate mutation detection is essential in clinical genetic diagnostics of monogenic hereditary diseases. Targeted next generation sequencing (NGS) provides a promising and cost-effective alternative to Sanger sequencing and MLPA analysis currently used in most diagnostic laboratories. One...... of mutation positive controls previously characterized by Sanger/MLPA analysis. Agilent SureSelect Target-Enrichment kits were used for capturing a set of genes associated with hereditary breast and ovarian cancer syndrome and a compilation of genes involved in multiple rare single gene disorders......, respectively. For diagnostics, the sequencing coverage is essential, wherefore a minimum coverage of 30x per nucleotide in the coding regions was used as our primary quality criterion. For the majority of the included genes, we obtained adequate gene coverage, in which we were able to detect 100% of the known...

An ab initio study on four low-lying electronic potential energy curves for atomic cesium and rare gas pairs

International Nuclear Information System (INIS)

Kobayashi, Takanori; Yuki, Kenta; Matsuoka, Leo

2016-01-01

Using multireference configuration interaction (MRCI) calculations with single and double excitation levels, Davidson correction, and a spin-orbit (SO) effective core potential, we have developed a series of four low-lying electronic potential energy curves (PECs) for the pairs formed between a cesium atom (Cs) and a rare gas (Rg = He, Ne, Ar, Kr, and Xe). The results obtained at the MRCI level were compared with those generated at the SOCI level, which were recently reported by Blank et al. The shapes of the PECs were essentially the same when the same basis set was used. Based on this agreement, more precise PECs for Cs-Rg pairs were calculated using a larger basis set for Rg. (author)

[Rare side effects in management of hyperthyroidism. Case report].

Science.gov (United States)

Sohár, Gábor; Kovács, Mónika; Györkös, Andrea; Gasztonyi, Beáta

2016-05-29

The authors present the case history of a patient suffering from hyperthyroidism. The diagnostic procedures revealed the presence of propylthiouracyl induced vasculitis with renal involvement, that recovered completely after the withdrawal of propylthiouracyl and corticosteroid treatment. Thereafter, the patient was treated with thiamasol, that caused agranulocytosis with fever. After transient litium carbonate therapy a succesful thyreoidectomy was performed. Cumulative serious side effects of antithyroid drugs are rare. This case highlights some of the challenges and complications encountered in the management of hyperthyroidism.

Well differentiated papillary mesothelioma of abdomen- a rare case with diagnostic dilemma.

Science.gov (United States)

Saha, Aniruddha; Mandal, Palash Kumar; Manna, Anupam; Khan, Kalyan; Pal, Subrata

2018-01-01

Well-differentiated papillary mesothelioma is a rare tumor occurring predominantly in the peritoneum of young women, a few with history of asbestos exposure. A 28-year-old woman presented with ascites and pain abdomen. Ultrasonography and computed tomography scan of the abdomen revealed a mass in the retroperitoneum measuring 15 cm × 12 cm. Histopathological examination along with immunohistochemistry (IHC) confirmed it to be a papillary mesothelioma in the peritoneum. It is difficult to differentiate from more common malignant mesothelioma and papillary adenocarcinoma, which also have poorer prognosis. The difficulty can be resolved by clinico-radiological correlation along with histopathological examination and IHC.

XPS and XAES measurements on trapped rare gases in transition metals

International Nuclear Information System (INIS)

Baba, Y.; Yamamoto, H.; Sasaki, T.A.

1992-01-01

Electronic structures of rare gases implanted in various transition metals have been investigated by means of an X-ray photoelectron spectroscopy (XPS) and X-ray-induced Auger electron spectroscopy (XAES). The Auger-parameter method is applied to the evaluation of electronic relaxation energy of rare gas atoms due to the surrounding metal potential. The extra-atomic relaxation energy of four kinds of rare gases (Ne, Ar, Kr, Xe) in the same metal matrix (Ti) increases with the atomic mass of the rare gases. On the other hand, the extra-atomic relaxation energy of the same rare gas (Xe) in different metal matrices ranges from 3.0 eV (in Mo). These values increase with the number of d-electrons in the metals. This tendency and the absolute values of the relaxation energies are in good agreement with those calculated for 3d transition metals referenced to their gas-phase values. Based on these results, it is concluded that the energetically implanted rare gases are trapped at the substitution site in the metal lattice as an isolated atom, and the trapped atoms feel the surrounding metal potential. It is also made clear that the potential affecting the implanted atom is d-like, and the relaxation energy of the implanted rare gas during the photoemission process is almost equal to those of the metal itself. (orig.)

Granulomatous mastitis - a diagnostic dilemma.

Science.gov (United States)

Mote, Dajiram G; Gungi, Raghavendra P; Satyanarayana, V; Premsunder, T

2008-10-01

Granulomatous lobular mastitis is a rare benign breast disease. It is characterized by chronic, non-caseating granulomatous lobulitis. It may be misdiagnosed as a carcinoma of the breast and may lead to mastectomy. Diagnostic criteria include-A) Granulomatous infl ammation with multinucleated giant cells, epithelioid histiocytes. B) It is centered on lobules with minor ductal and periductal infl ammation. C) It nearly always follows the pregnancy. A case of GLM, which was treated with local excision and postoperative steroid therapy is being reported to increase awareness amongst surgeons and pathologist.

Iris abscess a rare presentation of intravenous drug abuse associated Candida endophthalmitis

Directory of Open Access Journals (Sweden)

Jonathan Pierce

2016-12-01

Conclusions and importance: An iris abscess is a rare clinical presentation of intravenous drug use-associated endogenous endophthalmitis and as a result may present a diagnostic challenge as it requires a high level of clinical suspicion and a detailed social history to elicit the drug abuse. Early diagnosis and aggressive therapy is the key to better visual outcomes in these patients.

Deep-sea mud in the Pacific Ocean as a potential resource for rare-earth elements

Science.gov (United States)

Kato, Yasuhiro; Fujinaga, Koichiro; Nakamura, Kentaro; Takaya, Yutaro; Kitamura, Kenichi; Ohta, Junichiro; Toda, Ryuichi; Nakashima, Takuya; Iwamori, Hikaru

2011-08-01

World demand for rare-earth elements and the metal yttrium--which are crucial for novel electronic equipment and green-energy technologies--is increasing rapidly. Several types of seafloor sediment harbour high concentrations of these elements. However, seafloor sediments have not been regarded as a rare-earth element and yttrium resource, because data on the spatial distribution of these deposits are insufficient. Here, we report measurements of the elemental composition of over 2,000 seafloor sediments, sampled at depth intervals of around one metre, at 78 sites that cover a large part of the Pacific Ocean. We show that deep-sea mud contains high concentrations of rare-earth elements and yttrium at numerous sites throughout the eastern South and central North Pacific. We estimate that an area of just one square kilometre, surrounding one of the sampling sites, could provide one-fifth of the current annual world consumption of these elements. Uptake of rare-earth elements and yttrium by mineral phases such as hydrothermal iron-oxyhydroxides and phillipsite seems to be responsible for their high concentration. We show that rare-earth elements and yttrium are readily recovered from the mud by simple acid leaching, and suggest that deep-sea mud constitutes a highly promising huge resource for these elements.

A Rare Cause of Acute Abdominal Pain: Primary Appendagitis Epiploica

Directory of Open Access Journals (Sweden)

Tarkan Ergun

2014-03-01

Primary appendagitis epiploica – one of the causes of acute abdominal pain – is a self-limited rare benign inflammatory condition involving the colonic epiploic appendages. Their therapy is conservative and clinically mimics other conditions requiring surgery such as acute diverticulitis or appendicitis. However, being a quite rare condition is the reason they are usually neglected by both the surgeon and the radiologist. However the computed tomography (CT findings are rather characteristic and pathognomonic. Thus, to consider CT as the diagnostic modality of choice is extremely important in order to diagnose the condition and to avoid unnecessary surgical interventions.             This is a paper reporting an acute abdominal pain case of primary appendicitis epiploica diagnosed using computed tomography. 

Xanthogranulomatous urethritis and cystitis: a rare clinical and pathological entity

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Lewkowicz Dorota

2015-09-01

Full Text Available Xanthogranulomatous inflammation of the urethra and the urinary bladder is a very rare pathological condition characterized by a chronic inflammatory infiltration composed mainly of foamy macrophages, with the presence of multinucleated giant cells. In a clinical examination, it can mimic urinary bladder carcinoma. This report presents the extremely rare case of a co-existing xanthogranulomatous urethritis and cystitis in a 64-year-old woman with recurrent dysuria, and with the suspicion of malignancy - as indicated on the basis of a cystoscopic examination. The standard treatment of this disorder is surgical resection, but in the presented case, only a diagnostic biopsy was performed. Because of the persistence of clinical symptoms, a cystoscopic examination and biopsy was repeated three times in a two year period. There was no malignancy seen in the repeated biopsies.

A rare cause of hypophysitis: tuberculosis.

Science.gov (United States)

Ates, Ihsan; Katipoglu, B; Copur, B; Yilmaz, N

2017-10-26

Hypophysitis is a heterogeneous inflammatory disease of pituitary gland. As it causes headache and visual defects, it mimics sellar tumors in clinical and radiological aspects. It may occur due to primary or secondary causes. Tuberculosis is one of the rare secondary causes of the hypophysitis. Subject and Results. A 30-year-old male patient presented with fatigue and headache. Panhypopituitarism was considered due to the results and the diagnostic magnetic resonance (MR) imaging revealed sagittal section diamater of pituitary gland higher than normal. Biopsy of the pituitary gland was concordant with the granulomatous hypophysitis. Other possible diagnosis was excluded. The tubercular hypophysitis, as a result of performed tests, is discussed hereby, in the case report.

μ+ → e+γ and related rare decays

International Nuclear Information System (INIS)

Cooper, M.D.

1997-01-01

The connection of rare decays to supersymmetric grand unification is highlighted, and a brief review of the status of rare decay experiments is given. The status of the MEGA experiment, a search for μ + → e + γ, is reported. Some ideas for a new experimental arrangement that has the potential to reach a sensitivity of 10 -14 are presented

Spontaneous rupture of the spleen – a rare and potentially fatal ...

African Journals Online (AJOL)

Spontaneous (non-traumatic) rupture of the normal spleen in pregnancy is a rare clinical event that can endanger the lives of both mother and baby. The aetiology of the condition is unknown, but it occurs most commonly in multiple pregnancies and in the third trimester. We present a case of a spontaneous splenic rupture ...

Plasma cell gingivitis - A rare case related to Colocasia (arbi) leaves.

Science.gov (United States)

Bali, Deepika; Gill, Sanjeet; Bali, Amit

2012-09-01

Plasma cell gingivitis is an uncommon inflammatory condition of uncertain etiology often flavoured chewing gum, spices, foods, candies, or dentifrices. The diagnosis of plasma cell gingivitis is based on comprehensive history taking, clinical examination, and appropriate diagnostic tests. Here we are presenting a rare case of plasma cell gingivitis caused by consumption of colocasia (arbi) leaves. Colocasia is a kind of vegetable, very commonly consumed in the regions of North India.

Clinical diagnostic potentials of thyroid ultrasonography and scintigraphy; An evaluation

Energy Technology Data Exchange (ETDEWEB)

Torizuka, Tatsuo; Kasagi, Kanji; Hatabu, Hiroto; Misaki, Takashi; Iida, Yasuhiro; Konishi, Junji (Kyoto Univ. (Japan). Hospital); Endo, Keigo

1993-06-01

This prospective study was designed to evaluate the potential contributions of high resolution ultrasonography (US) and Tc-99m scintigraphy in the routine diagnosis of thyroid disease. The diagnostic impacts of US and Tc-99m scintigraphy results in 177 patients visiting our thyroid clinic were assessed and scored according to the following criteria: when the information provided by either test supported, confirmed or changed the initial clinical diagnosis, they received scores of 2, 3 and 4 respectively, while score 1 was given when the test itself was useless for the differential diagnosis. US identified focal lesions that both palpation and scintigraphy had failed to detect in 14 (12.1%) of 116 patients with diffuse thyroid diseases, suggesting the necessity of Hashimoto's thyroiditis, adenoma, adenocarcinoma and adenomatous goiter, and vice versa in the diagnosis of hyperthyroid and euthyroid Graves's diseases. Thus, the advantages of US over scintigraphy for morphological evaluation were confirmed. US was particularly useful for the differential diagnosis of adenomatous goiter from Hashimoto's thyroiditis or a single nodular disease. In contrast, scintigraphy gave functional images, being especially helpful for the differential diagnosis of thyrotoxicosis. (author).

Collisions of halogen (2P) and rare gas (1S) atoms

International Nuclear Information System (INIS)

Becker, C.H.

1978-12-01

Differential cross sections I (THETA) at several collision energies measured in crossed molecular beam experiments are reported for several combinations of halogen atoms ( 2 P) scattered off rare gas-rare gas atoms ( 1 S 0 ), namely, F + Ne, F + Ar, F + Kr, F + Xe, C1 + Xe. The scattering is described by an elastic model appropriate to Hund's case c coupling. With the use of this model, the X 1/2, I 3/2, and II 1/2 interaction potential energy curves are derived by fitting calculated differential cross sections, based on analytic representations of the potentials, to the data. The F - Xe X 1/2 potential shows a significant bonding qualitatively different than for the other F-rare gases. The I 3/2 and II 1/2 potentials closely resemble the van der Waals interactions of the one electron richer ground state rare gas-rare gas systems. Coupled-channel scattering calculations are carried out for F + Ar, F + Xe, and C1 + Xe using the realistic potential curves derived earlier. The results justify the use of the elastic model, and give additional information on intramultiplet and intermultiplet transitions. The transitions are found to be governed by the crossing of the two Ω = 1/2 potentials in the complex plane. The measured I (theta) and I (THETA) derived from the coupled-channel computations show small oscillations or perturbations (Stueckelberg oscillations) though quantitative agreement is not obtained.The nature of the anomalous F - Xe X 1/2 potential is discussed as is the approximation of a constant spin orbit coupling over the experimentally accessible range of internuclear distances for these open shell molecules. 55 references

Rare earth metals, rare earth hydrides, and rare earth oxides as thin films

International Nuclear Information System (INIS)

Gasgnier, M.

1980-01-01

The review deals with pure rare earth materials such as rare earth metals, rare earth hydrides, and rare earth oxides as thin films. Several preparation techniques, control methods, and nature of possible contaminations of thin films are described. These films can now be produced in an extremely well-known state concerning chemical composition, structure and texture. Structural, electric, magnetic, and optical properties of thin films are studied and discussed in comparison with the bulk state. The greatest contamination of metallic rare earth thin films is caused by reaction with hydrogen or with water vapour. The compound with an f.c.c. structure is the dihydride LnH 2 (Ln = lanthanides). The oxygen contamination takes place after annealing at higher temperatures. Then there appears a compound with a b.c.c. structure which is the C-type sesquioxide C-Ln 2 O 3 . At room atmosphere dihydride light rare earth thin films are converted to hydroxide Ln(OH) 3 . For heavy rare earth thin films the oxinitride LnNsub(x)Osub(y) is observed. The LnO-type compound was never seen. The present review tries to set the stage anew for the investigations to be undertaken in the future especially through the new generations of electron microscopes

Student Interpretations of Diagnostic Feedback

Science.gov (United States)

Doe, Christine

2015-01-01

Diagnostic assessment is increasingly being recognized as a potentially beneficial tool for teaching and learning (Jang, 2012). There have been calls in the research literature for students to receive diagnostic feedback and for researchers to investigate how such feedback is used by students. Therefore, this study examined how students…

An introduction to metabolomics and its potential application in veterinary science.

Science.gov (United States)

Jones, Oliver A H; Cheung, Victoria L

2007-10-01

Metabolomics has been found to be applicable to a wide range of fields, including the study of gene function, toxicology, plant sciences, environmental analysis, clinical diagnostics, nutrition, and the discrimination of organism genotypes. This approach combines high-throughput sample analysis with computer-assisted multivariate pattern-recognition techniques. It is increasingly being deployed in toxico- and pharmacokinetic studies in the pharmaceutical industry, especially during the safety assessment of candidate drugs in human medicine. However, despite the potential of this technique to reduce both costs and the numbers of animals used for research, examples of the application of metabolomics in veterinary research are, thus far, rare. Here we give an introduction to metabolomics and discuss its potential in the field of veterinary science.

Pitfalls in diagnostic radiology

International Nuclear Information System (INIS)

Peh, Wilfred C.G.

2015-01-01

Only textbook to focus primarily on the topic of pitfalls in diagnostic radiology. Highlights the pitfalls in a comprehensive and systematic manner. Written by experts in different imaging modalities and subspecialties from reputable centers across the world. The practice of diagnostic radiology has become increasingly complex, with the use of numerous imaging modalities and division into many subspecialty areas. It is becoming ever more difficult for subspecialist radiologists, general radiologists, and residents to keep up with the advances that are occurring year on year, and this is particularly true for less familiar topics. Failure to appreciate imaging pitfalls often leads to diagnostic error and misinterpretation, and potential medicolegal problems. Diagnostic errors may be due to various factors such as inadequate imaging technique, imaging artifacts, failure to recognize normal structures or variants, lack of correlation with clinical and other imaging findings, and poor training or inexperience. Many, if not most, of these factors are potentially recognizable, preventable, or correctable. This textbook, written by experts from reputable centers across the world, systematically and comprehensively highlights the pitfalls that may occur in diagnostic radiology. Both pitfalls specific to different modalities and techniques and those specific to particular organ systems are described with the help of numerous high-quality illustrations. Recognition of these pitfalls is crucial in helping the practicing radiologist to achieve a more accurate diagnosis.

Pitfalls in diagnostic radiology

Energy Technology Data Exchange (ETDEWEB)

Peh, Wilfred C.G. (ed.) [Khoo Teck Puat Hospital (Singapore). Dept. of Diagnostic Radiology

2015-04-01

Only textbook to focus primarily on the topic of pitfalls in diagnostic radiology. Highlights the pitfalls in a comprehensive and systematic manner. Written by experts in different imaging modalities and subspecialties from reputable centers across the world. The practice of diagnostic radiology has become increasingly complex, with the use of numerous imaging modalities and division into many subspecialty areas. It is becoming ever more difficult for subspecialist radiologists, general radiologists, and residents to keep up with the advances that are occurring year on year, and this is particularly true for less familiar topics. Failure to appreciate imaging pitfalls often leads to diagnostic error and misinterpretation, and potential medicolegal problems. Diagnostic errors may be due to various factors such as inadequate imaging technique, imaging artifacts, failure to recognize normal structures or variants, lack of correlation with clinical and other imaging findings, and poor training or inexperience. Many, if not most, of these factors are potentially recognizable, preventable, or correctable. This textbook, written by experts from reputable centers across the world, systematically and comprehensively highlights the pitfalls that may occur in diagnostic radiology. Both pitfalls specific to different modalities and techniques and those specific to particular organ systems are described with the help of numerous high-quality illustrations. Recognition of these pitfalls is crucial in helping the practicing radiologist to achieve a more accurate diagnosis.

Tumor necrosis factor-alpha is a potential diagnostic biomarker for chronic neuropathic pain after spinal cord injury.

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Xu, Jun; E, Xiaoqiang; Liu, Huiyong; Li, Feng; Cao, Yanhui; Tian, Jun; Yan, Jinglong

2015-05-19

Neuropathic pain (NP) is one of the most common complications after spinal cord injury (SCI), but no protein biomarkers has ever been introduced into clinical diagnosis. Previous studies implicated that toll-like receptor (TLR) 4 played a critical role in the development of NP in animal SCI models. Here, a total of 140 participants were recruited, 70 of them were SCI-NP subject and the rest 70 controls did not show neuropathic symptoms. TLR4 was upregulated significantly in SCI-NP patients compared with SCI-noNP subjects. Furthermore, we measured the concentrations of tumor necrosis factor-alpha (TNF-α) and interleukin-6 (IL-6), two TLR4 downstream pro-inflammatory cytokines, to assess their diagnostic values. Receiver operating characteristics (ROC) analysis revealed that TNF-α had great potential advantages to predict the progression of neuropathy, the risks of NP were strongly increased in SCI subjects with higher levels of TNF-α (odds ratio: 4.92; 95% confidence interval: 1.89-12.32). These results suggested neuro-immune activation contributed to the development of neuropathic disorder after SCI, and TNF-α could be a potential sensitive diagnostic biomarker for chronic neuropathic pain in SCI patients. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Eventration of diaphragm with a rare association

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Syed Shafiq

2014-01-01

Full Text Available Eventration of the diaphragm is a rare anomaly of unknown origin characterized by a permanent high position of one or rarely both the leaflets of the diaphragm, providing a potential space for the displacement of abdominal viscera on the affected side(s. The etiology, diagnosis, and management of this condition remains a controversial subject. We report a rare case of infiltrating squamous cell carcinoma of the esophagus in a patient with eventration of the diaphragm and gastric volvulus who presented to us with retrosternal discomfort. To the best of our knowledge, this rare association has not been reported in the literature, although one case of esophageal adenocarcinoma arising from Barrett′s esophagus in association with eventration of the diaphragm has been reported previously. This case again emphasis the varied associations of an eventration of the diaphragm.

Development and Application of Diagnostic Test to Identify Students' Misconceptions of Quantum Physics

International Nuclear Information System (INIS)

Halim, A.A.; Meerah, T.S.; Lilia Halim

2009-01-01

A study on students' misconceptions on quantum physics is rarely being done, because the target audience is quite small. It is important to understand quantum physics concepts correctly especially for science students. This study was under taken to help students identify their misconceptions at the early stage. The aim of this study is to develop a diagnostic test which can access the students' misconceptions, and use the findings for the benefits of quantum physics courses. A multiple-choice Quantum Physics Diagnostic Test (QPDT), that involves concepts of light, atomic model, particle-wave dualism, wave function, and potential energy, was administered to 200 university students. The results shows that many students use the classical concepts to describe the quantum phenomenon. For example students describe light only as a wave, an electron only as a particle, and that the atomic structure is parallel to the solar system. To overcome these problems, it is suggested that lecturers spend more time in explaining the basic definitions and using analogies in quantum physics teaching. (author)

Challenging the Cancer Molecular Stratification Dogma: Intratumoral Heterogeneity Undermines Consensus Molecular Subtypes and Potential Diagnostic Value in Colorectal Cancer.

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Dunne, Philip D; McArt, Darragh G; Bradley, Conor A; O'Reilly, Paul G; Barrett, Helen L; Cummins, Robert; O'Grady, Tony; Arthur, Ken; Loughrey, Maurice B; Allen, Wendy L; McDade, Simon S; Waugh, David J; Hamilton, Peter W; Longley, Daniel B; Kay, Elaine W; Johnston, Patrick G; Lawler, Mark; Salto-Tellez, Manuel; Van Schaeybroeck, Sandra

2016-08-15

A number of independent gene expression profiling studies have identified transcriptional subtypes in colorectal cancer with potential diagnostic utility, culminating in publication of a colorectal cancer Consensus Molecular Subtype classification. The worst prognostic subtype has been defined by genes associated with stem-like biology. Recently, it has been shown that the majority of genes associated with this poor prognostic group are stromal derived. We investigated the potential for tumor misclassification into multiple diagnostic subgroups based on tumoral region sampled. We performed multiregion tissue RNA extraction/transcriptomic analysis using colorectal-specific arrays on invasive front, central tumor, and lymph node regions selected from tissue samples from 25 colorectal cancer patients. We identified a consensus 30-gene list, which represents the intratumoral heterogeneity within a cohort of primary colorectal cancer tumors. Using a series of online datasets, we showed that this gene list displays prognostic potential HR = 2.914 (confidence interval 0.9286-9.162) in stage II/III colorectal cancer patients, but in addition, we demonstrated that these genes are stromal derived, challenging the assumption that poor prognosis tumors with stem-like biology have undergone a widespread epithelial-mesenchymal transition. Most importantly, we showed that patients can be simultaneously classified into multiple diagnostically relevant subgroups based purely on the tumoral region analyzed. Gene expression profiles derived from the nonmalignant stromal region can influence assignment of colorectal cancer transcriptional subtypes, questioning the current molecular classification dogma and highlighting the need to consider pathology sampling region and degree of stromal infiltration when employing transcription-based classifiers to underpin clinical decision making in colorectal cancer. Clin Cancer Res; 22(16); 4095-104. ©2016 AACRSee related commentary by Morris and

Diagnostic potential of nested PCR, galactomannan EIA, and beta-D-glucan for invasive aspergillosis in pediatric patients.

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Badiee, Parisa; Alborzi, Abdolvahab; Karimi, Mahammad; Pourabbas, Bahman; Haddadi, Pedram; Mardaneh, Jalal; Moieni, Mahsa

2012-04-13

Limited specific data and investigations are available for invasive aspergillosis (IA) in pediatric patients. We evaluated the diagnostic potential of three noninvasive tests including the Platelia Aspergillus EIA kit for using galactomannan antigen, (1,3)-β-D-glucan Detection Reagent Kit, and nested-PCR for Aspergillus DNA in sera. We evaluated the diagnostic potential of three noninvasive tests including EIA for galactomannan antigen  (Platelia Aspergillus), nested  PCR assay for Aspergillus DNA and test for (1→3)-β-D-glucan (Glucatell assay Kit). All pediatric patients treated at the hematology/oncology unit who were at increased risk of developing invasive aspergillosis were enrolled. Clinical samples were examined for Aspergillus infections by mycological methods. Serial blood samples were collected twice weekly and evaluated by noninvasive tests. We analyzed 230 consecutive blood samples from 62 pediatric patients. The incidence rate of invasive aspergillosis in the patients was found to be 27.4%, and the etiologic agents were Aspergillus flavus, Aspergillus fumigatus, and Aspergillus spp.  The sensitivity, specificity, positive and negative predictive values, and likelihood ratios for positive and negative results of galactomannan in patients with proven and probable IA were 90%, 92%, 81.8%, 96%, 11.25, and 0.1; for beta-D-glucan they were 50%, 46%, 26%, 70.6%, 0.9, 0.9; and for nested-PCR they were 80%, 96.2%, 88.9%, 92.6%, 21, and 0.2, respectively. The conventional methods are not able to detect IA, due to the lack of valid and proper sampling. Galactomannan and nested-PCR tests in serum, with enough accuracy and reliability, can serve as noninvasive methods for the detection of IA in pediatric patients. However, the beta-D-glucan test cannot serve as an efficient diagnostic tool in those with hematologic disorders. 

Cause rare d'une perforation de la cloison nasale

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Jahidi, Ali; Hemmaoui, Bouchaïb; Itoua, Wulfran Rosaire; Errami, Noureddine; Benariba, Fouad

2014-01-01

Les perforations de la cloison nasale constituent une pathologie fréquente en ORL. Leurs causes sont multiples et restent dominées par les traumatismes chirurgicaux. Les étiologies infectieuses et notamment la tuberculose sont rares. Nous présentons le cas d'une patiente ayant bénéficié d'une méatotomie bilatérale et chez laquelle une perforation de la cloison nasale a été découverte lors d'un examen systématique à un an de son intervention. D'abord considérée comme une complication de la chirurgie, la biopsie des berges de la perforation a permis de déterminer son origine tuberculeuse. La présentation clinique des perforations de la cloison nasale n'est pas spécifique. Elles sont souvent asymptomatiques et de découverte fortuite. Les traumatismes notamment chirurgicaux sont le plus siuvent en cause. L′orogine tuberculeuse resta très rare. Le diagnostic de certitude de tuberculose repose sur la biopsie des berges de cette perforation. Le but de ce travail est de mettre en avant l'intérêt de la biopsie dans le diagnostic de la tuberculose de la cloison nasale. Cette biopsie doit être systématique même en cas d'antécédents de chirurgie endonasale qui est le plus souvent en cause dans les perforations de la cloison nasale. PMID:24932334

Rare species are valued big time.

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Elena Angulo

Full Text Available BACKGROUND: It has recently been postulated that the value humans place on rarity could cause the extinction of rare species. This is because people are willing to pay the high costs of exploiting the last individuals. Many hobbies, such as ecotourism or the keeping of exotic pets may cause this effect--known as the anthropogenic Allee effect. However, the entire theory relies on the insofar undemonstrated assumption that people do value rarity. METHODOLOGY/PRINCIPAL FINDINGS: In order to quantify how much people valued rare species relative to common ones, we created online slideshows of photographs of either rare or common species on an Internet web site. The slideshow with photographs of rare species attracted more visitors, and visitors spent, in general, more time waiting to view it. CONCLUSIONS/SIGNIFICANCE: We provide evidence that people value rare more than common species. As we did not target consumers of a specific market, this finding suggests that the anthropogenic Allee effect is likely be driven by a large part of the population. Given the substantial participation in our online experiment, we highlight the potential of the world wide web resource as a tool for conservation action. However, the evidence presented here that the general public value rare species, combined with the assumption that anthropogenic Allee effect is operating, implies that conservationists should be prudent when using rarity to promote conservation.

Clinical comparison of high-speed rare-earth screen and par-speed screen for diagnostic efficacy and radiation dosage

International Nuclear Information System (INIS)

Robinson, T.; Becker, J.A.; Olson, A.P.

1982-01-01

One hundred patients underwent excretory urography and a comparison was made of ten-minute, well-collimated images that were obtained with both par-speed and rare-earth screens, the latter being 6.5 times faster than the par-speed calcium tungstate screens. Radiation dose was greatly reduced with the rare-earth screens. There were fewer inferior examinations, even though fine detail was imaged poorly, and there was a slightly increased quantum mottle, which was only a minor problem at this low 65 kVp. Since quantum mottle increases with kVp, however, our results are not applicable to higher kVp examinations. Despite reduced detail and increased mottle, the overall image quality obtained with the rare-earth screen was superior to the image quality obtained with the par-speed screen

Giant cell tumor of soft tissues of low malignant potential: A rare diagnosis on fine needle aspiration cytology

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Maithili M Kulkarni

2016-01-01

Full Text Available Primary giant cell tumors of soft tissues (GCT-ST are extremely rare soft tissue tumors, located in both superficial and deep soft tissues. They resemble osseous giant cell tumors morphologically and immunohistochemically. The tumor exhibits strong positive immunoreactivity for cluster of differentiation 68 (CD68 within multinucleated osteoclast-like giant cells and focal staining of mononuclear cells. Case reports describing the cytohistological features of this entity are very few. We report a case of GCT-ST of low malignant potential diagnosed on fine needle aspiration (FNA and confirmed on histological and immunohistochemical studies.

BILATERAL UNICONDYLAR HOFFA FRACTURE : A RARE CASE REPORT

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Pardha Saradhi

2015-02-01

Full Text Available NTRODUCTION: Hoffa f racture was first described by FRIEDRICH BUSCH, a surgeon from Berlin in 1869, and always supposed by ALBERT HOFFA in 1904. It is a rare injury consisting of tangential (CORONAL SHEAR fracture of distal femoral condyles. These fractures are due to high energy trauma and typically seen in a motor bike accident in a young patient subjected to shear force in both sagittal and coronal plane. (1 These fractures are not easy to visualise on routine imaging and therefore could represent a diagnostic challenge t o the accident department and orthopaedic surgeons

Potential biomarker panels in overall breast cancer management: advancements by multilevel diagnostics.

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Girotra, Shantanu; Yeghiazaryan, Kristina; Golubnitschaja, Olga

2016-09-01

Breast cancer (BC) prevalence has reached an epidemic scale with half a million deaths annually. Current deficits in BC management include predictive and preventive approaches, optimized screening programs, individualized patient profiling, highly sensitive detection technologies for more precise diagnostics and therapy monitoring, individualized prediction and effective treatment of BC metastatic disease. To advance BC management, paradigm shift from delayed to predictive, preventive and personalized medical services is essential. Corresponding step forwards requires innovative multilevel diagnostics procuring specific panels of validated biomarkers. Here, we discuss current instrumental advancements including genomics, proteomics, epigenetics, miRNA, metabolomics, circulating tumor cells and cancer stem cells with a focus on biomarker discovery and multilevel diagnostic panels. A list of the recommended biomarker candidates is provided.

Plasma cell gingivitis - A rare case related to Colocasia (arbi leaves

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Deepika Bali

2012-01-01

Full Text Available Plasma cell gingivitis is an uncommon inflammatory condition of uncertain etiology often flavoured chewing gum, spices, foods, candies, or dentifrices. The diagnosis of plasma cell gingivitis is based on comprehensive history taking, clinical examination, and appropriate diagnostic tests. Here we are presenting a rare case of plasma cell gingivitis caused by consumption of colocasia (arbi leaves. Colocasia is a kind of vegetable, very commonly consumed in the regions of North India.

The diagnostic and therapeutic approach of a primary bilateral leiomyoma of the ovaries: a case report and a literature review.

NARCIS (Netherlands)

Esch, E.M. van; Wijngaarden, S.E. van; Schaafsma, H.E.; Smeets, M.J.; Rhemrev, J.P.

2011-01-01

INTRODUCTION: A primary fibroid (leiomyoma) arising from both ovaries is rare and can be difficult to diagnose as a result of the low incidence and its indistinctive presentation. A literature review on the diagnostic and therapeutic approach of this rare benign tumour is presented. We describe a

A rare combination of findings revealed by MR imaging in the Marfan syndrome

International Nuclear Information System (INIS)

Kleimaker, G.; Ehrenheim C.; Rittierodt, M.; Jaster, S.; Hundeshagen, H.

1996-01-01

We report on the case of a 16-year-old boy known to have suffered form the Marfan syndrome for the past ten years. Even though he could not be regarded as a text-book perfect example, he showed some rare manifestations of the disease. Particular attention is given to the diagnostic possibilities offered by MR imaging. (orig./MG) [de

A Rare Cause of Hyperamylasemia: Macroamylasemia

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Adil Coşkun

2017-04-01

Full Text Available Elevated serum amylase activity is commonly seen in acute pancreatitis and salivary gland inflammation, but also rarely seen in a benign phenomenon, macroamylasemia, that does not require treatment. Hyperamylasemia is a laboratory finding that may cause diagnostic failure occasionally in patients presenting with abdominal pain. Elevated serum amylase levels and abdominal pain may lead to misdiagnosis as acute pancreatitis in macroamylasemic patients. Macroamylasemia should be considered in patients with abdominal pain and hyperamylasemia but without imaging findings of pancreatitis. Here, we present a patient with macroamylasemia who had abdominal pain and persistent hyperamylasemia. The patient had no complaints but persisting hyperamylasemia (450 U/L and normal lipase activity at the follow-up outpatient visit three months later.

A rare cause of hypophysitis: tuberculosis

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Ates Ihsan

2017-10-01

Full Text Available Objectives. Hypophysitis is a heterogeneous inflammatory disease of pituitary gland. As it causes headache and visual defects, it mimics sellar tumors in clinical and radiological aspects. It may occur due to primary or secondary causes. Tuberculosis is one of the rare secondary causes of the hypophysitis. Subject and Results. A 30-year-old male patient presented with fatigue and headache. Panhypopituitarism was considered due to the results and the diagnostic magnetic resonance (MR imaging revealed sagittal section diamater of pituitary gland higher than normal. Biopsy of the pituitary gland was concordant with the granulomatous hypophysitis. Other possible diagnosis was excluded. Conclusion. The tubercular hypophysitis, as a result of performed tests, is discussed hereby, in the case report.

'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases

NARCIS (Netherlands)

Bouwman, M.G.; Teunissen, Q.G.A.; Wijburg, F.A.; Linthorst, G.E.

2010-01-01

The expansion of the internet has resulted in widespread availability of medical information for both patients and physicians. People increasingly spend time on the internet searching for an explanation, diagnosis or treatment for their symptoms. Regarding rare diseases, the use of the internet may

Nanodevices in diagnostics

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Hu, Ye; Fine, Daniel H.; Tasciotti, Ennio; Bouamrani, Ali; Ferrari, Mauro

2010-01-01

The real-time, personalized and highly sensitive early-stage diagnosis of disease remains an important challenge in modern medicine. With the ability to interact with matter at the nanoscale, the development of nanotechnology architectures and materials could potentially extend subcellular and molecular detection beyond the limits of conventional diagnostic modalities. At the very least, nanotechnology should be able to dramatically accelerate biomarker discovery, as well as facilitate disease monitoring, especially of maladies presenting a high degree of molecular and compositional heterogeneity. This article gives an overview of several of the most promising nanodevices and nanomaterials along with their applications in clinical practice. Significant work to adapt nanoscale materials and devices to clinical applications involving large interdisciplinary collaborations is already underway with the potential for nanotechnology to become an important enabling diagnostic technology. PMID:20229595

Joubert syndrome with autism in two siblings: A rare presentation.

Science.gov (United States)

Raghavan, D Vijaya; Doshi, V Vimal; Nambi, Shanthi

2016-01-01

Joubert syndrome is a rare autosomal recessive disorder with partial or complete agenesis of cerebellar vermis. This syndrome is identified mainly by the presence of molar tooth sign in magnetic resonance imaging of the brain since it has a varied phenotypic presentation. Of the 200 cases reported so far in the literature, only three reports show the presence of autistic symptoms in siblings suggesting a link between the cerebellar vermis and autistic spectrum disorders. In this case report of two siblings, the female child satisfied the criterion for autistic spectrum disorder in accordance with Diagnostic and Statistical Manual of Mental Disorders Fifth Editon. The boy showed developmental delay with autistic features (not amounting to diagnostic threshold). This report is important in that it adds evidence to the literature that abnormalities of cerebellum are involved in the cognitive development and autistic symptoms.

Diagnostics in Japan's microgravity experiments

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Kadota, Toshikazu

1995-01-01

The achievement of the combustion research under microgravity depends substantially on the availability of diagnostic systems. The non-intrusive diagnostic systems are potentially applicable for providing the accurate, realistic and detailed information on momentum, mass and energy transport, complex gas phase chemistry, and phase change in the combustion field under microgravity. The non-intrusive nature of optical instruments is essential to the measurement of combustion process under microgravity which is very nervous to any perturbation. However, the implementation of the non-intrusive combustion diagnostic systems under microgravity is accompanied by several constraints. Usually, a very limited space is only available for constructing a highly sophisticated system which is so sensitive that it is easily affected by the magnitude of the gravitational force, vibration and heterogeneous field of temperature and density of the environments. The system should be properly adjusted prior to the experiment. Generally, it is quite difficult to tune the instruments during measurements. The programmed sequence of operation should also be provided. Extensive effort has been toward the development of non-intrusive diagnostic systems available for the combustion experiments under microgravity. This paper aims to describe the current art and the future strategy on the non-intrusive diagnostic systems potentially applicable to the combustion experiments under microgravity in Japan.

Early diagnostic potential of APC hypermethylation in esophageal cancer

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Wang B

2018-02-01

Full Text Available Bujiang Wang,1 Haojun Song,1 Haizhong Jiang,1 Yangbo Fu,1 Xiaoyun Ding,1 Chongchang Zhou2 1Department of Gastroenterology, Laboratory of Digestive Diseases, Ningbo First Hospital, Ningbo, 2Department of Otorhinolaryngology Head and Neck Surgery, Lihuili Hospital of Ningbo University, Ningbo, Zhejiang, People’s Republic of China Background: The hypermethylation of APC gene is observed in various cancers, including esophageal cancer (EC. However, the association between APC methylation and the initiation and progression of EC is poorly understood. Purpose and methods: The current study systematically reviewed studies on abnormal methylation of APC in EC and quantitatively synthesized 18 studies by meta-analysis involving 1008 ECs, 570 Barrett’s esophagus (BE, and 782 controls. Results: Our results showed higher methylation of APC in EC (OR = 23.33, P < 0.001 and BE (OR = 9.34, P < 0.001 than in normal controls. Whereas APC methylation in EC was similar to that in BE (P = 0.052, it was not associated with tumor stage (P = 0.204. Additionally, APC methylation was not significantly associated with overall survival (OS and relapse-free survival (RFS in patients with EC. The performance of APC methylation for the detection of EC and BE achieved areas under the receiver operating characteristic curves of 0.94 and 0.88, respectively. Conclusion: Our results imply that APC methylation detection is a potential diagnostic biomarker for EC and BE. Keywords: esophageal cancer, Barrett’s esophagus, methylation, APC

Present-day potentialities of endoscopic diagnostics and treatment of early cancer in respiratory and digestive tracts

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Sokolov, Victor V.; Zharkova, Natalia N.; Filonenko, E. V.; Telegina, L. V.; Karpova, E. S.

1999-12-01

The paper presents the latest potentialities of the endoscopic fluorescent diagnostics as well as endoscopic electric-, laser surgery and photodynamic therapy (PDT) of the early cancer in the respiratory and digestive tracts. We present in detail indication and factors determining the application of the endoscopic resection of the tumor. The advantages of the combination application of PDT, electro-, Nd:YAG laser surgery and brachitherapy are stressed. The near and remote results of endoscopic treatment of the early cancer in larynx (37), lung (109), esophagus (39) and stomach (58) are shown.

Assessment of the potential diagnostic value of serum p53 antibody for cancer: a meta-analysis.

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Jun Zhang

Full Text Available BACKGROUND: Mutant p53 protein over-expression has been reported to induce serum antibodies against p53. We assessed the diagnostic precision of serum p53 (s-p53 antibodies for diagnosis of cancer patients and compared the positive rates of the s-p53 antibody in different types of cancers. METHODS: We systematically searched PubMed and Embase, through May 31, 2012. Studies were assessed for quality using QUADAS (quality assessment of studies of diagnostic accuracy. The positive likelihood ratio (PLR and negative likelihood ratio (NLR were pooled separately and compared with overall accuracy measures using diagnostic odds ratios (DORs and Area under the curve(AUC. Meta regression and subgroup analyses were done, and heterogeneity and publication bias were assessed. RESULTS: Of 1089 studies initially identified, 100 eligible studies with 23 different types of tumor met the inclusion criteria for the meta-analysis (cases = 15953, controls = 8694. However, we could conduct independent meta analysis on only 13 of 36 types of tumors. Approximately 56% (56/100 of the included studies were of high quality (QUADAS score≥8. The summary estimates for quantitative analysis of serum p53 antibody in the diagnosis of cancers were: PLR 5.75 (95% CI: 4.60-7.19, NLR 0.81 (95%CI: 0.79-0.83 and DOR 7.56 (95% CI: 6.02-9.50. However, for the 13 types of cancers on which meta-analysis was conducted, the ranges for PLR (2.33-11.05, NLR (0.74-0.97, DOR (2.86-13.80, AUC(0.29-0.81, and positive rate (4.47%-28.36% indicated significant heterogeneity. We found that breast, colorectal, esophageal, gastric, hepatic, lymphoma, lung and ovarian cancer had relatively reasonable diagnostic accuracy. The remaining results of the five types of cancers suggested that s-p53 antibody had limited value. CONCLUSIONS: The current evidence suggests that s-p53 antibody has potential diagnostic value for cancer, especially for breast, colorectal, esophageal, gastric, hepatic

Mechanical valve obstruction: Review of diagnostic and treatment strategies

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Salamon, Jason; Munoz-Mendoza, Jerson; Liebelt, Jared J; Taub, Cynthia C

2015-01-01

Prosthetic valve obstruction (PVO) is a rare but feared complication of mechanical valve replacement. Diagnostic evaluation should focus on differentiating prosthetic valve thrombosis (PVT) from pannus formation, as their treatment options differ. History of sub-optimal anti-coagulation and post-op time course to development of PVO are useful clinical characteristics in differentiating thrombus from pannus formation. Treatment of PVT is influenced by the patient’s symptoms, valve location, degree of obstruction and thrombus size and may include thrombolysis or surgical intervention. Alternatively, pannus formation requires surgical intervention. The purpose of this article is to review the pathophysiology, epidemiology, diagnostic approach and treatment options for aortic and mitral valve PVO. PMID:26730292

Gliomatosis cerebri: The diagnostic potential of MRI. Gliomatosis cerebri: Diagnostisches Potential der MRT

Energy Technology Data Exchange (ETDEWEB)

Rodiek, S.O.; Hufnagl, J.M. (Staedtisches Krankenhaus Muenchen-Bogenhausen (Germany). Abt. fuer Roentgendiagnostik und Nuklearmedizin Staedtisches Krankenhaus Muenchen-Bogenhausen (Germany). Abt. fuer Neuropsychologie)

1991-07-01

Gliomatosis cerebri is a rare tumor of neuroepithelial origin in middle aged persons. MRI predominantly shows a bilateral and diffuse infiltration of midline adjacent brain structures including medulla. Areas with focal anaplasia occasionally reveal an accumulation of contrast media. The diffuse tumor manifestation requires a differentiation from encephalitis and demyelinating diseases with a similar distribution pattern of lesions. Three cases have been examined. In conclusion the performance of MRI including control and brain biopsy are indicated to establish an in vivo diagnosis. (orig./GDG).

Macrodystrophia lipomatosa – MR imaging of a rare congenital anomaly: review of 3 cases

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Pallavi Aga

2010-12-01

Full Text Available Macrodystrophia lipomatosa (MDL results from progressive overgrowth of all the mesenchymal elements, with a disproportionate increase in fibro-adipose tissue. This rare congenital abnormality occurs most frequently in the distribution of the median nerve in the upper, and medial plantar nerve in the lower, extremity. Excess of unencapsulated fibro-adipose tissue on magnetic resonance imaging (MRI is virtually diagnostic and can differentiate this entity from other diseases with similar presentations. Involvement of the ulnar aspect of the hand, though rare, has been described; however, the lateral aspect of the foot as seen in our second case has not been reported, to the best of our knowledge.

[Rare bone tumour of the hand: capillary haemangioma of the second finger: case report].

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Chbani, L; Benmlih, A; Hammas, N; Znati, K; Marzouki, A; Chbani, B; Boutayeb, F; Amarti, A

2011-04-01

Primary vascular tumours of bone are rare. Haemangiomas occur as incidental findings in the skull or in the spine. A solitary haemangioma of the hand skeleton is rare and difficult in radiological and histological differential diagnosis. We report a case of a 23 year-old patient presenting with a capillary hemangioma of the left second finger of few months duration for which he underwent amputation. Postoperative evolution was good and showed no recurrence. We discuss this through observation and a review of the literature including the different clinical, radiological and pathological diagnostic problems associated with an unusual site for vascular proliferation. Copyright © 2011. Published by Elsevier SAS.

Effect of rare earth filtration on patient exposure, dose reduction, and image quality in oral panoramic radiology

International Nuclear Information System (INIS)

Tyndall, D.A.; Washburn, D.B.

1987-01-01

Rare earth intensifying screen material (Gd2O2S:Tb) was added to the standard Al filtration of an oral panoramic x-ray unit, resulting in a beam capable of achieving reductions in patient dose without a loss of image quality. The added rare earth filtration technique resulted in patient dose reductions of 21-56%, depending on anatomic sites, when compared to the conventional Al filtration technique. Films generated from both techniques were measured densitometrically and evaluated by a panel of practicing clinicians. Diagnostically significant differences were minimal. The results indicate that use of rare earth filters in oral panoramic radiography is an effective means of reducing exposures of dental patients to ionizing radiation

Assessing Rare Metal Availability Challenges for Solar Energy Technologies

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Leena Grandell

2015-08-01

Full Text Available Solar energy is commonly seen as a future energy source with significant potential. Ruthenium, gallium, indium and several other rare elements are common and vital components of many solar energy technologies, including dye-sensitized solar cells, CIGS cells and various artificial photosynthesis approaches. This study surveys solar energy technologies and their reliance on rare metals such as indium, gallium, and ruthenium. Several of these rare materials do not occur as primary ores, and are found as byproducts associated with primary base metal ores. This will have an impact on future production trends and the availability for various applications. In addition, the geological reserves of many vital metals are scarce and severely limit the potential of certain solar energy technologies. It is the conclusion of this study that certain solar energy concepts are unrealistic in terms of achieving TW scales.

Synchronic volvulus of splenic flexure and caecum: a very rare cause of large bowel obstruction.

Science.gov (United States)

Islam, Shariful; Hosein, Devin; Harnarayan, Patrick; Naraynsingh, Vijay

2016-01-18

Colonic volvulus involving the caecum and splenic flexure of the colon is an extremely rare surgical entity and, as a result, it is rarely entertained as a differential diagnosis for large bowel obstruction. The most common site of volvulus is located at the sigmoid colon (75%) followed by caecum (22%). Rare sites of colonic volvulus include the transverse colon (about 2%) and splenic flexure (1-2%). Synchronous double colonic volvulus is very rare. The presentation of this condition can be similar to the signs and symptoms of large bowel obstruction. CT imaging of the abdomen can be diagnostic; however, the diagnosis is often missed due to the rarity of this condition--in such cases, it can only be made at laparotomy. Management of this condition should be expedited to prevent a fatal outcome. We present the case of a 56-year-old woman with synchronous volvulus of the caecum and splenic flexure of the colon. 2016 BMJ Publishing Group Ltd.

Molecular Diagnostics in the Neoplasms of Small Intestine and Appendix: 2018 Update.

Science.gov (United States)

Zhang, Yingtao; Zulfiqar, Muhammad; Bluth, Martin H; Bhalla, Amarpreet; Beydoun, Rafic

2018-06-01

Neoplasms of the small intestine are rare in comparison with colorectal tumors. The most common tumor types arising in the small intestine are adenocarcinomas, well-differentiated neuroendocrine tumors, gastrointestinal stromal tumors, and lymphoma. Primary appendiceal neoplasms are rare and found in less than 2% of appendectomy specimens with an incidence of approximately 1.2 cases per 100,000 people per year in the United States. This article explores molecular diagnostics in the neoplasms of small intestine and appendix. Copyright © 2018 Elsevier Inc. All rights reserved.

Accessory oral cavity associated with duplication of the tongue and the mandible in a newborn: a rare case of Diprosopus. Multi-row detector computed tomography diagnostic role.

Science.gov (United States)

Morabito, Rosa; Colonna, Michele R; Mormina, Enricomaria; Stagno d'Alcontres, Ferdinando; Salpietro, Vincenzo; Blandino, Alfredo; Longo, Marcello; Granata, Francesca

2014-12-01

Craniofacial duplication is a very rare malformation. The phenotype comprises a wide spectrum, ranging from partial duplication of few facial structures to complete dicephalus. We report the case of a newborn with an accessory oral cavity associated to duplication of the tongue and the mandible diagnosed by multi-row detector Computed Tomography, few days after her birth. Our case of partial craniofacial duplication can be considered as Type II of Gorlin classification or as an intermediate form between Type I and Type II of Sun classification. Our experience demonstrates that CT scan, using appropriate reconstruction algorithms, permits a detailed evaluation of the different structures in an anatomical region. Multi-row CT scan is also the more accurate diagnostic procedure for the pre-surgical evaluation of craniofacial malformations. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Fine needle aspiration cytology of IgG4-related disease: A potential diagnostic pitfall?

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Kaur, Rajwant; Mitra, Suvradeep; Rajwanshi, Arvind; Das, Ashim; Nahar Saikia, Uma; Dey, Pranab

2017-01-01

IgG4-related disease (IgG4-RD) is a tumefactive fibro-inflammatory lesion that can affect any organ system in the body. Till date, no cytological data on IgG4-RD are available and this is the first study depicting the cytopathology features of IgG4-RD. To describe the cytopathological features and potential diagnostic errors of IgG4-RD. The cytological features of 10 histopathology proven IgG4-RD cases (11 samples) were retrospectively reviewed along with corresponding histopathology. The cellularity of the cytology smears was low (36.4%) to moderate (45.4%) to high (18.1%). The low cellularity correlated well with the pattern C in histopathology (predominant fibrosis pattern). The non-epithelial background showed a preponderance of lymphocytes along with polymorphs and spindle-shaped fibroblasts. Most of these cases showed the presence of plasma cells and eosinophils. Epithelial atypia was seen in 18.2% cases. The causes of misdiagnosis were low cellularity, epithelial atypia, and non-representative background. The important diagnostic clues to suspect a diagnosis of IgG4-RD include low cellularity despite adequate effort, inflammatory background rich in lymphocytes and spindle cells admixed with a few plasma cells and eosinophils along with radiological features and raised serum IgG4 Diagn. Cytopathol. 2017;45:14-21. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Malignant struma ovarii: a rare oncologic entity

International Nuclear Information System (INIS)

Barbosa, Frederico Paes; Mendonca, Sandro Bichara; Souza, Thiago Ferreira de

2004-01-01

Struma ovarii (SO) malignant is a rare ovarian teratoid tumor, consisting predominantly of thyroid tissue. It has low incidence and a few cases described by the literature. Usually appears in the 4th or 5th decade of life. Generally they are diagnosed after surgery, being the diagnostic reserved for the lesions on the ectopic thyroid tissue based on cellular atypia, mitotic activity, capsular invasion and metastases. Due to its rarity,it does not still have a consensus about the best therapeutical management and protocol of accompaniment for patients with this neoplastic entity. This article reports a case of a patient with malignant S O, reviewing the relevant aspects of the literature. (author)

Headache associated with airplane travel: a rare entity.

Science.gov (United States)

Cherian, Ajith; Mathew, Mini; Iype, Thomas; Sandeep, P; Jabeen, Afshan; Ayyappan, K

2013-01-01

Airplane travel headache is rare and has recently been described as a new form of headache associated with a specific situation. Of the 1,208 patients with primary headaches attending a tertiary care neurology hospital, two (0.16%) patients satisfied the criteria for headache related to airplane travel. Both the patients fulfilled the proposed diagnostic criteria for airplane travel headache. This unique headache had a mean duration of 24 minutes, localized to the medial supraorbital region described as having an intense jabbing or stabbing character that occurred exclusively and maximally during aircraft landing or take-off, following which pain intensity subsided . This rare headache felt on aircraft descent is probably due to the squeeze effect on the frontal sinus wall, when air trapped inside it contracts producing a negative pressure leading to mucosal edema, transudation and intense pain. Use of nasal decongestants either alone or in combination with naproxen sodium prior to ascent and descent abated the headache episodes. Awareness about this unique entity is essential to provide proper treatment and avoid patient suffering.

Antigenicity and diagnostic potential of vaccine candidates in human Chagas disease.

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Shivali Gupta

Full Text Available Chagas disease, caused by Trypanosoma cruzi, is endemic in Latin America and an emerging infectious disease in the US and Europe. We have shown TcG1, TcG2, and TcG4 antigens elicit protective immunity to T. cruzi in mice and dogs. Herein, we investigated antigenicity of the recombinant proteins in humans to determine their potential utility for the development of next generation diagnostics for screening of T. cruzi infection and Chagas disease.Sera samples from inhabitants of the endemic areas of Argentina-Bolivia and Mexico-Guatemala were analyzed in 1(st-phase for anti-T. cruzi antibody response by traditional serology tests; and in 2(nd-phase for antibody response to the recombinant antigens (individually or mixed by an ELISA. We noted similar antibody response to candidate antigens in sera samples from inhabitants of Argentina and Mexico (n=175. The IgG antibodies to TcG1, TcG2, and TcG4 (individually and TcG(mix were present in 62-71%, 65-78% and 72-82%, and 89-93% of the subjects, respectively, identified to be seropositive by traditional serology. Recombinant TcG1- (93.6%, TcG2- (96%, TcG4- (94.6% and TcG(mix- (98% based ELISA exhibited significantly higher specificity compared to that noted for T. cruzi trypomastigote-based ELISA (77.8% in diagnosing T. cruzi-infection and avoiding cross-reactivity to Leishmania spp. No significant correlation was noted in the sera levels of antibody response and clinical severity of Chagas disease in seropositive subjects.Three candidate antigens were recognized by antibody response in chagasic patients from two distinct study sites and expressed in diverse strains of the circulating parasites. A multiplex ELISA detecting antibody response to three antigens was highly sensitive and specific in diagnosing T. cruzi infection in humans, suggesting that a diagnostic kit based on TcG1, TcG2 and TcG4 recombinant proteins will be useful in diverse situations.

Low-grade central osteosarcoma in proximal humerus: a rare entity

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Tang F

2017-10-01

Full Text Available Fan Tang,1,2 Li Min,1,2 Yong Zhou,1 Yi Luo,1 Chongqi Tu1 1Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, People’s Republic of China; 2Sarcoma Biology Laboratory, Center for Sarcoma and Connective Tissue Oncology, Massachusetts General Hospital, Boston, MA, USA Abstract: Low-grade central osteosarcoma is a rare subtype of tumor with low-grade malignancy. Currently, wide resection with negative resection margin is the standard treatment for this disease. The role of neoadjuvant chemotherapy in low-grade central osteosarcoma was controversial and was mostly considered for tumors containing high-grade focal areas. Local tumor recurrences often exhibited a tumor with higher histologic grade or differentiation with the potential for metastases. In low-grade central osteosarcoma, timely wide resection after definite diagnosis can result in 5-year survival for almost 90%. However, the relatively nonspecific radiological and pathological findings make diagnosis very difficult. MDM2 and CDK4 are specific and provide sensitive markers for the diagnosis of low-grade central osteosarcoma, helping to differentiate low-grade central osteosarcoma from some benign lesions, including fibrous dysplasia, bone giant cell tumor, and chondrosarcoma. Here, we report the case of a 19-year-old woman with low-grade central osteosarcoma located at the proximal humerus. The affected site was rare, but the sensitive biomarkers CDK4 and MDM2 were positive. The patient recovered well after wide tumor resection following a proximal humerus endoprosthesis replacement. Our case highlighted the management strategies in low-grade central osteosarcoma. Being familiar with radiographic features, understanding the biological characteristics, and mastering diagnostic biomarkers can help oncologists avoid embarrassing situations in treatment when this rare tumor is highly suspected, even when located at an uncommon site. The discussion in this report

Interpretation of diagnostic data: 6. How to do it with more complex maths.

Science.gov (United States)

1983-11-15

We have now shown you how to use decision analysis in making those rare, tough diagnostic decisions that are not soluble through other, easier routes. In summary, to "use more complex maths" the following steps will be useful: Create a decision tree or map of all the pertinent courses of action and their consequences. Assign probabilities to the branches of each chance node. Assign utilities to each of the potential outcomes shown on the decision tree. Combine the probabilities and utilities for each node on the decision tree. Pick the decision that leads to the highest expected utility. Test your decision for its sensitivity to clinically sensible changes in probabilities and utilities. That concludes this series of clinical epidemiology rounds. You've come a long way from "doing it with pictures" and are now able to extract most of the diagnostic information that can be provided from signs, symptoms and laboratory investigations. We would appreciate learning whether you have found this series useful and how we can do a better job of presenting these and other elements of "the science of the art of medicine".

Micromagnetics of rare-earth efficient permanent magnets

Science.gov (United States)

Fischbacher, Johann; Kovacs, Alexander; Gusenbauer, Markus; Oezelt, Harald; Exl, Lukas; Bance, Simon; Schrefl, Thomas

2018-05-01

The development of permanent magnets containing less or no rare-earth elements is linked to profound knowledge of the coercivity mechanism. Prerequisites for a promising permanent magnet material are a high spontaneous magnetization and a sufficiently high magnetic anisotropy. In addition to the intrinsic magnetic properties the microstructure of the magnet plays a significant role in establishing coercivity. The influence of the microstructure on coercivity, remanence, and energy density product can be understood by using micromagnetic simulations. With advances in computer hardware and numerical methods, hysteresis curves of magnets can be computed quickly so that the simulations can readily provide guidance for the development of permanent magnets. The potential of rare-earth reduced and rare-earth free permanent magnets is investigated using micromagnetic simulations. The results show excellent hard magnetic properties can be achieved in grain boundary engineered NdFeB, rare-earth magnets with a ThMn12 structure, Co-based nano-wires, and L10-FeNi provided that the magnet’s microstructure is optimized.

Cost of illness and economic evaluation in rare diseases.

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López-Bastida, Julio; Oliva-Moreno, Juan

2010-01-01

Rare diseases are a major cause of morbidity and mortality in high income countries and have major repercussions on individuals and health care systems. This chapter examines the health economy of rare diseases from two different perspectives: firstly, the study of the economic impact of rare diseases (Cost of Illness studies); and, secondly, cost-effectiveness evaluation, which evaluates both the costs and results of the health care technologies applied in rare diseases. From the point of view of economics, health resource allocation is based on the principle of scarcity, as there are not - and never will be- sufficient resources for all worthy objectives. Hence, policy makers should balance costs and health outcomes. Rare diseases may well represent a significant societal burden that should rightly receive appropriate prioritisation of health care resources. As new and seemingly expensive health care technologies are developed for rare diseases, it will become increasingly important to evaluate potential and real impact of these new technologies in both dimensions: social costs and health outcomes.

Interactions of C+(2PJ) with rare gas atoms: incipient chemical interactions, potentials and transport coefficients

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Tuttle, William D.; Thorington, Rebecca L.; Viehland, Larry A.; Breckenridge, W. H.; Wright, Timothy G.

2018-03-01

Accurate interatomic potentials were calculated for the interaction of a singly charged carbon cation, C+, with a single rare gas atom, RG (RG = Ne-Xe). The RCCSD(T) method and basis sets of quadruple-ζ and quintuple-ζ quality were employed; each interaction energy was counterpoise corrected and extrapolated to the basis set limit. The lowest C+(2P) electronic term of the carbon cation was considered, and the interatomic potentials calculated for the diatomic terms that arise from these: 2Π and 2Σ+. Additionally, the interatomic potentials for the respective spin-orbit levels were calculated, and the effect on the spectroscopic parameters was examined. In doing this, anomalously large spin-orbit splittings for RG = Ar-Xe were found, and this was investigated using multi-reference configuration interaction calculations. The latter indicated a small amount of RG → C+ electron transfer and this was used to rationalize the observations. This is taken as evidence of an incipient chemical interaction, which was also examined via contour plots, Birge-Sponer plots and various population analyses across the C+-RG series (RG = He-Xe), with the latter showing unexpected results. Trends in several spectroscopic parameters were examined as a function of the increasing atomic number of the RG atom. Finally, each set of RCCSD(T) potentials was employed, including spin-orbit coupling to calculate the transport coefficients for C+ in RG, and the results were compared with the limited available data. This article is part of the theme issue `Modern theoretical chemistry'.

Hydatid disease of the spine: A rare case

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Mona Agnihotri

2017-01-01

Full Text Available Hydatid disease or hydatidosis is the most widespread zoonosis caused by Echinococcus granulosus. Liver and lungs are the most common sites. Bone involvement is rare and reported in 0.5%–4% with spinal involvement reported in 50% of these cases. We present a case of spinal hydatidosis in a 35-year-old male presenting with lower extremity weakness and numbness. Magnetic resonance imaging (MRI of the spine showed multiple cystic lesions at the T9–T11 level with involvement of the paraspinal muscles. The lesion was seen intraspinal, intradural, intramedullary, and epidural. Radiological impression was aneurysmal bone cyst. The patient underwent laminectomy, and the excised cysts showed characteristic features of hydatid cyst (HC on histopathology. The patient was started on antihelminthic therapy postoperatively. MRI is a diagnostic modality for HC, but the unusual location and absence of characteristic features can cause diagnostic difficulty. A high index of suspicion should be kept in patients residing in endemic areas and presenting with unusual cystic lesion of spine.

Beyond the 2×2 -contingency table: a primer on entropies and mutual information in various scenarios involving m diagnostic categories and n categories of diagnostic tests.

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Reibnegger, Gilbert

2013-10-21

Usual evaluation tools for diagnostic tests such as, sensitivity/specificity and ROC analyses, are designed for the discrimination between two diagnostic categories, using dichotomous test results. Information theoretical quantities such as mutual information allow in depth-analysis of more complex discrimination problems, including continuous test results, but are rarely used in clinical chemistry. This paper provides a primer on useful information theoretical concepts with a strong focus on typical diagnostic scenarios. Information theoretical concepts are shortly explained. Mathematica CDF documents are provided which compute entropies and mutual information as function of pretest probabilities and the distribution of test results among the categories, and allow interactive exploration of the behavior of these quantities in comparison with more conventional diagnostic measures. Using data from a previously published study, the application of information theory to practical diagnostic problems involving up to 4×4 -contingency tables is demonstrated. Information theoretical concepts are particularly useful for diagnostic problems requiring more than the usual binary classification. Quantitative test results can be properly analyzed, and in contrast to popular concepts such as ROC analysis, the effects of variations of pre-test probabilities of the diagnostic categories can be explicitly taken into account. © 2013 Elsevier B.V. All rights reserved.

Rare earths

Energy Technology Data Exchange (ETDEWEB)

Cranstone, D A

1979-01-01

Rare earth elements are commonly extracted from the minerals monazite, bastnaesite, and xenotine. New uses for these elements are constantly developing; they have found applications in glass polishing, television tube phosphors, high-strength low-alloy steels, magnets, catalysts, refractory ceramics, and hydrogen sponge alloys. In Canada, rare earths have been produced as byproducts of the uranium mining industry, but there was no production of rare earths in 1978 or 1979. The world sources of and markets for the rare earth elements are discussed.

Diagnostic Approach to a Patient With Paraneoplastic Neurological Syndrome.

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Mahta, Ali; Vijayvergia, Namrata; Bhavsar, Tapan M; Ward, Lawrence D

2012-10-01

Herein, we discussed a case of an otherwise healthy man who presented with progressive gait imbalance and ataxia, found to have small cell lung cancer. Based upon our clinical findings and laboratory data, a diagnosis of paraneoplastic cerebellar degeneration was made. Paraneoplastic neurological syndromes (PNS) are relatively rare but diverse and always should be considered in differentials. A diagnostic algorithm along with appropriate work up is discussed here.

Unusual clinical presentation of rare case of vaginal leiomyoma: a case report

OpenAIRE

Ishrat Zuber; Purnima K. Nadkarni; Aditi A. Nadkarni; Akshay Nadkarni

2016-01-01

Primary vaginal leiomyoma are rare and usually arise from anterior vaginal wall, approximately 330 cases of vaginal fibroid reported in world literature. Vaginal myoma usually presented as discharge per vaginum, abnormal bleeding, pain lower abdomen, dyspareunia etc. We report a case of primary vaginal leiomyoma arising from lateral vaginal wall which is presented clinically as pain in hip joint and radiating to ipsilateral leg which is unusual clinical presentation creating diagnostic dilemm...

A Case of Kleine-Levin Syndrome: Diagnostic and Therapeutic Challenge

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Marino Marčić

2018-02-01

Full Text Available Kleine-Levin syndrome (KLS is a rare sleep disorder mainly affecting teenage boys in which the main features are intermittent hypersomnolence, behavioral and cognitive disturbances, hyperphagia, and in some cases hyper sexuality. Etiology is unknown, and there is no specific clinical or imaging test for this syndrome even though the illness has well-defined clinical features. Also, there is no effective treatment for KLS. KLS is self-limited, so the prognosis for these patients is not so bad. This study presents our case report and comprehensive workout that led to diagnosis which is primarily clinical. Our patient is a 20-year-old man referred to our clinic because of sleeping problems. At the age of 14, he presented with complaints of the excessive duration of sleep, increased appetite, excessive daytime sleepiness, loss of interest in social activities during attendance of high school and hallucinations. The excessive diagnostic procedure does not find pathological. Kleine-Levin syndrome (KLS is a rare sleep disorder of unknown etiology which diagnosis is clinical and diagnostic workup is mainly to exclude other similar conditions. There is no specific therapy, but the disease is self-limited and with good prognosis.

Rare case of transverse testicular ectopia - Case report and review of literature.

Science.gov (United States)

Raj, Vinod; Redkar, Rajeev; Krishna, Swathi; Tewari, Shruti

2017-01-01

This case report has been reported in line with the SCARE criteria; Consensus-based surgical case report guidelines of International Journal of Surgery 2016. Transverse Testicular Ectopia (TTE) is a rare condition which manifests with unilateral undescended testis and contralateral hernia. Till now around 100 cases have been described in the literature. The management depends on the anatomy of the vas, vessels and testis found on surgical exploration. An algorithm exists for its management and we propose a modified algorithm for management of TTE. Five year male presented with complaints of unilateral undescended testis on the right and hernia on the left. Clinically the right testis was impalpable and left testis palpable in the left hemiscrotum and fluid hernia on the same side. Transverse testicular ectopia is a rare condition presenting with UDT and contralateral inguinal hernia. Although more than 100 cases have been described in the literature so far, those managed with a transeptal contralateral orchidopexy are two cases to the best of our knowledge. TTE was first described by Von Lenhossek in 1886. The mean age of presentation is around 4 years and most of the cases are diagnosed on surgical exploration. The management of TTE remains controversial even though an algorithm has been described for its management due to its varied presenting scenarios. TTE is a rare condition which requires high index of suspicion for diagnosis preoperatively. Whenever suspected we recommend an USG and/or MRI prior to diagnostic laparoscopy and proceed with orchidopexy. Diagnostic laparoscopy is both helpful in diagnosis and management. Transeptal contralateral orchidopexy gives good tension free fixation of testes in the scrotum.

Rare earth industries; Moving Malaysia's Green Economy Forward

International Nuclear Information System (INIS)

2011-08-01

There is a famous saying, Where there is risk, there is opportunity. Rare earths present both health and environmental risks as well as potential economic opportunities. However, the risks are manageable thanks to improved technologies and a better understanding of the implications on health and the environment. This explains why there is a rush by many countries to reopen old mines and increase investment in the production of rare earths concentrate and their high value downstream products. Why is there such a scramble to risk money on rare earths? What have ignited global demand? Where are the opportunities? How are the risks associated with rare earths managed? Can Malaysia benefit from this new growth industry? What should be our strategies? This report, produced by the joint Working Group of the Academy of Sciences Malaysia (ASM) and the Majlis Professor Negara (MPN), discusses the science of rare earths and their business prospects; and proposes some strategic directions for Malaysia. The analysis is based on information culled from various secondary sources as well as the groups engagement with experts from the Rare Earths Society of China. (author)

Ciliates and the rare biosphere: a review.

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

2014-01-01

Here we provide a brief review of the rare biosphere from the perspective of ciliates and other microbial eukaryotes. We trace research on rarity from its lack of much in-depth focus in morphological and Sanger sequencing projects, to its central importance in analyses using high throughput sequencing strategies. The problem that the rare biosphere is potentially comprised of mostly errors is then discussed in the light of asking community-comparative, novel-diversity, and ecosystem-functioning questions. © 2014 The Author(s) Journal of Eukaryotic Microbiology © 2014 International Society of Protistologists.

Nanotechnology based diagnostics for neurological disorders

Energy Technology Data Exchange (ETDEWEB)

Kurek, Nicholas S; Chandra, Sathees B., E-mail: schandra@roosevelt.edu [Department of Biological, Chemical and Physical Sciences, Roosevelt University, Chicago, IL (United States)

2012-07-01

Nanotechnology involves probing and manipulating matter at the molecular level. Nanotechnology based molecular diagnostics have the potential to alleviate the suffering caused by many diseases, including neurological disorders, due to the unique properties of nanomaterials. Most neurological illnesses are multifactorial conditions and many of these are also classified as neurobehavioral disorders. Alzheimer's disease, Parkinson's disease, Huntington disease, cerebral ischemia, epilepsy, schizophrenia and autism spectrum disorders like Rett syndrome are some examples of neurological disorders that could be better treated, diagnosed, prevented and possibly cured using nanotechnology. In order to improve the quality of life for disease afflicted people, a wide range of nanomaterials that include gold and silica nanoparticles, quantum dots and DNA along with countless other forms of nanotechnology have been investigated regarding their usefulness in advancing molecular diagnostics. Other small scaled materials like viruses and proteins also have potential for use as molecular diagnostic tools. Information obtained from nanotechnology based diagnostics can be stored and manipulated using bioinformatics software. More advanced nanotechnology based diagnostic procedures for the acquisition of even greater proteomic and genomic knowledge can then be developed along with better ways to fight various diseases. Nanotechnology also has numerous applications besides those related to biotechnology and medicine. In this article, we will discuss and analyze many novel nanotechnology based diagnostic techniques at our disposal today. (author)

Nanotechnology based diagnostics for neurological disorders

Energy Technology Data Exchange (ETDEWEB)

Kurek, Nicholas S.; Chandra, Sathees B., E-mail: schandra@roosevelt.edu [Department of Biological, Chemical and Physical Sciences, Roosevelt University, Chicago, IL (United States)

2012-07-01

Nanotechnology involves probing and manipulating matter at the molecular level. Nanotechnology based molecular diagnostics have the potential to alleviate the suffering caused by many diseases, including neurological disorders, due to the unique properties of nanomaterials. Most neurological illnesses are multifactorial conditions and many of these are also classified as neurobehavioral disorders. Alzheimer's disease, Parkinson's disease, Huntington disease, cerebral ischemia, epilepsy, schizophrenia and autism spectrum disorders like Rett syndrome are some examples of neurological disorders that could be better treated, diagnosed, prevented and possibly cured using nanotechnology. In order to improve the quality of life for disease afflicted people, a wide range of nanomaterials that include gold and silica nanoparticles, quantum dots and DNA along with countless other forms of nanotechnology have been investigated regarding their usefulness in advancing molecular diagnostics. Other small scaled materials like viruses and proteins also have potential for use as molecular diagnostic tools. Information obtained from nanotechnology based diagnostics can be stored and manipulated using bioinformatics software. More advanced nanotechnology based diagnostic procedures for the acquisition of even greater proteomic and genomic knowledge can then be developed along with better ways to fight various diseases. Nanotechnology also has numerous applications besides those related to biotechnology and medicine. In this article, we will discuss and analyze many novel nanotechnology based diagnostic techniques at our disposal today. (author)

Nanotechnology based diagnostics for neurological disorders

International Nuclear Information System (INIS)

Kurek, Nicholas S.; Chandra, Sathees B.

2012-01-01

Nanotechnology involves probing and manipulating matter at the molecular level. Nanotechnology based molecular diagnostics have the potential to alleviate the suffering caused by many diseases, including neurological disorders, due to the unique properties of nanomaterials. Most neurological illnesses are multifactorial conditions and many of these are also classified as neurobehavioral disorders. Alzheimer's disease, Parkinson's disease, Huntington disease, cerebral ischemia, epilepsy, schizophrenia and autism spectrum disorders like Rett syndrome are some examples of neurological disorders that could be better treated, diagnosed, prevented and possibly cured using nanotechnology. In order to improve the quality of life for disease afflicted people, a wide range of nanomaterials that include gold and silica nanoparticles, quantum dots and DNA along with countless other forms of nanotechnology have been investigated regarding their usefulness in advancing molecular diagnostics. Other small scaled materials like viruses and proteins also have potential for use as molecular diagnostic tools. Information obtained from nanotechnology based diagnostics can be stored and manipulated using bioinformatics software. More advanced nanotechnology based diagnostic procedures for the acquisition of even greater proteomic and genomic knowledge can then be developed along with better ways to fight various diseases. Nanotechnology also has numerous applications besides those related to biotechnology and medicine. In this article, we will discuss and analyze many novel nanotechnology based diagnostic techniques at our disposal today. (author)

Long interspersed nuclear element-1 hypomethylation and oxidative stress: correlation and bladder cancer diagnostic potential.

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Maturada Patchsung

Full Text Available Although, increased oxidative stress and hypomethylation of long interspersed nuclear element-1 (LINE-1 associate with bladder cancer (BCa development, the relationship between these alterations is unknown. We evaluated the oxidative stress and hypomethylation of the LINE-1 in 61 BCa patients and 45 normal individuals. To measure the methylation levels and to differentiate the LINE-1 loci into hypermethylated, partially methylated and hypomethylated, peripheral blood cells, urinary exfoliated cells and cancerous tissues were evaluated by combined bisulfite restriction analysis PCR. The urinary total antioxidant status (TAS and plasma protein carbonyl content were determined. The LINE-1 methylation levels and patterns, especially hypomethylated loci, in the blood and urine cells of the BCa patients were different from the levels and patterns in the healthy controls. The urinary TAS was decreased, whereas the plasma protein carbonyl content was increased in the BCa patients relative to the controls. A positive correlation between the methylation of LINE-1 in the blood-derived DNA and urinary TAS was found in both the BCa and control groups. The urinary hypomethylated LINE-1 loci and the plasma protein carbonyl content provided the best diagnostic potential for BCa prediction. Based on post-diagnostic samples, the combination test improved the diagnostic power to a sensitivity of 96% and a specificity of 96%. In conclusion, decreased LINE-1 methylation is associated with increased oxidative stress both in healthy and BCa subjects across the various tissue types, implying a dose-response association. Increases in the LINE-1 hypomethylation levels and the number of hypomethylated loci in both the blood- and urine-derived cells and increase in the oxidative stress were found in the BCa patients. The combination test of the urinary hypomethylated LINE-1 loci and the plasma protein carbonyl content may be useful for BCa screening and monitoring of

Ductal carcinoma in a multiple fibroadenoma: Diagnostic inaccuracies

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Rao Shalinee

2010-01-01

Full Text Available We present the diagnostic inaccuracies encountered in a case of multiple fibroadenoma with malignant transformation. A 30-year-old lady presented with lump in the right breast of one month duration which on clinical examination, X-ray mammogram, sonomammogram were suggestive of multiple fibroadenomas. Fine needle aspiration cytology of the largest lump revealed features of malignancy and a core biopsy showed pleomorphic cells that could not be categorized. Due to the clinical, radiological and pathological diagnostic ambiguity, lumpectomy was performed and frozen section showed features of only conventional fibroadenoma. Representative bits on routine processing showed only features of fibroadenoma. Hence, complete submission of all lumps was done, which revealed fibroadenoma with invasive ductal carcinoma in one. Patient underwent modified radical mastectomy which showed multiple fibroadenomas, focal fibrocystic disease with a focus of residual invasive tumor and metastatic deposit in one axillary lymph node. This case report highlights the diagnostic challenges in detecting malignancy in fibroadenoma and a need for extensive tissue sampling in multiple fibroadenomas to detect the rare occurrence of carcinoma.

Ductal carcinoma in a multiple fibroadenoma: diagnostic inaccuracies.

Science.gov (United States)

Rao, Shalinee; Latha, P Suvarna; Ravi, A; Thanka, J

2010-01-01

We present the diagnostic inaccuracies encountered in a case of multiple fibroadenoma with malignant transformation. A 30-year-old lady presented with lump in the right breast of one month duration which on clinical examination, X-ray mammogram, sonomammogram were suggestive of multiple fibroadenomas. Fine needle aspiration cytology of the largest lump revealed features of malignancy and a core biopsy showed pleomorphic cells that could not be categorized. Due to the clinical, radiological and pathological diagnostic ambiguity, lumpectomy was performed and frozen section showed features of only conventional fibroadenoma. Representative bits on routine processing showed only features of fibroadenoma. Hence, complete submission of all lumps was done, which revealed fibroadenoma with invasive ductal carcinoma in one. Patient underwent modified radical mastectomy which showed multiple fibroadenomas, focal fibrocystic disease with a focus of residual invasive tumor and metastatic deposit in one axillary lymph node. This case report highlights the diagnostic challenges in detecting malignancy in fibroadenoma and a need for extensive tissue sampling in multiple fibroadenomas to detect the rare occurrence of carcinoma.

Isolated Subclavian Vein Injury: A Rare and High Mortality Case

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Sahin Iscan

2013-01-01

Full Text Available Isolated subclavian vein injuries are rarely seen without concomitant arterial injury, bone fracture, damage to brachial plexus, and thoracal traumas. Our case was brought to the emergency service 6 hours after he had been shot at the shoulder with a firearm. After detection of extravasation from the left axillary and subclavian vein on arteriographic and venographic examinations, he was operated on. An autogenous saphenous vein graft was interposed between subclavian and axillary veins. Cardiac arrest developed twice because of hypovolemia, which was resolved with medical therapy. Subclavian vein injuries have a more mortal course when compared with the injuries to the subclavian arteries. Its most important reason is excessive blood loss and air embolism because of delayed arrival to hospital. As is the case in all vascular injuries, angiography is the most important diagnostic examination. If the general health state of the patient permits, arteriography and venography should be performed in patients potentially exposed to vascular injuries. In patients with extreme blood loss and deteriorated health state, direct surgical exploration of the injury site, containment of the bleeding, and venous repair are life-saving approaches.

Meningitis in a Chinese adult patient caused by Mycoplasma hominis: a rare infection and literature review.

Science.gov (United States)

Zhou, Menglan; Wang, Peng; Chen, Sharon; Du, Bin; Du, Jinlong; Wang, Fengdan; Xiao, Meng; Kong, Fanrong; Xu, Yingchun

2016-10-12

Mycoplasma hominis, a well known cause of neonatal infection, has been reported as a pathogen in urogenital infections in adults; however, central nervous system (CNS) infections are rare. We report here the first case of M. hominis meningitis in China, post neurosurgical treatment for an intracerebral haemorrhage in a 71-year-old male. We describe a 71-year-old man who developed M. hominis meningitis after neurosurgical treatment and was successfully treated with combined azithromycin and minocycline therapy of 2 weeks duration, despite delayed treatment because the Gram stain of cerebrospinal fluid (CSF) yielded no visible organisms. The diagnosis required 16S rDNA sequencing analysis of the cultured isolate from CSF. Literature review of M. hominis CNS infections yielded 19 cases (13 instances of brain abscess, 3 of meningitis, 1 spinal cord abscess and 1 subdural empyema each). Delay in diagnosis and initial treatment failure was evident in all cases. With appropriate microbiological testing, antibiotic therapy (ranging from 5 days to 12 weeks) and often, multiple surgical interventions, almost all the patients improved immediately. Both our patient findings and the literature review, highlighted the pathogenic potential of M. hominis together with the challenges prompted by rare infectious diseases in particular for developing countries laboratories with limited diagnostic resources.

Mesothelioma of tunica vaginalis of "uncertain malignant potential" - an evolving concept: case report and review of the literature

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Yilmaz Asli

2011-08-01

Full Text Available Abstract Mesothelioma of tunica vaginalis is a rare neoplasm, typically demonstrating frankly malignant morphology and aggressive behavior. Rare cases of well-differentiated papillary mesotheliomas have also been reported, which, in contrast, demonstrate indolent behavior. There are, however, cases which do not fit into the well-differentiated or diffuse malignant mesothelioma categories and can be considered mesothelioma of tunica vaginalis of "uncertain malignant potential", which is an emerging diagnostic category. A 57-year-old man presented with a neoplasm in a hydrocele sac. The neoplasm was non-invasive, but showed focal complex and solid growth and it was difficult to categorize either as well-differentiated papillary mesotheliomas or malignant mesothelioma. After the initial limited resection, the patient underwent radical orchiectomy with hemiscrotectomy and is alive and without disease progression after 6 years. Documentation of these rare tumors will allow their distinction from true malignant mesotheliomas and will facilitate the development of specific treatment recommendations.

Diagnostic potential of iris cross-sectional imaging in albinism using optical coherence tomography.

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Sheth, Viral; Gottlob, Irene; Mohammad, Sarim; McLean, Rebecca J; Maconachie, Gail D E; Kumar, Anil; Degg, Christopher; Proudlock, Frank A

2013-10-01

To characterize in vivo anatomic abnormalities of the iris in albinism compared with healthy controls using anterior segment optical coherence tomography (AS-OCT) and to explore the diagnostic potential of this technique for albinism. We also investigated the relationship between iris abnormalities and other phenotypical features of albinism. Prospective cross-sectional study. A total of 55 individuals with albinism and 45 healthy controls. We acquired 4.37×4.37-mm volumetric scans (743 A-scans, 50 B-scans) of the nasal and temporal iris in both eyes using AS-OCT (3-μm axial resolution). Iris layers were segmented and thicknesses were measured using ImageJ software. Iris transillumination grading was graded using Summers and colleagues' classification. Retinal OCT, eye movement recordings, best-corrected visual acuity (BCVA), visual evoked potential (VEP), and grading of skin and hair pigmentation were used to quantify other phenotypical features associated with albinism. Iris AS-OCT measurements included (1) total iris thickness, (2) stroma/anterior border (SAB) layer thickness, and (3) posterior epithelial layer (PEL) thickness. Correlation with other phenotypical measurements, including (1) iris transillumination grading, (2) retinal layer measurements at the fovea, (3) nystagmus intensity, (4) BCVA, (5) VEP asymmetry, (6) skin pigmentation, and (7) hair pigmentation (of head hair, lashes, and brows). The mean iris thickness was 10.7% thicker in controls (379.3 ± 44.0 μm) compared with the albinism group (342.5 ± 52.6 μm; P>0.001), SAB layers were 5.8% thicker in controls (315.1 ± 43.8 μm) compared with the albinism group (297.7 ± 50.0 μm; P=0.044), and PEL was 44.0% thicker in controls (64.1 ± 11.7 μm) compared with the albinism group (44.5 ± 13.9 μm; Palbinism. Phenotypic features of albinism, such as skin and hair pigmentation, BCVA, and nystagmus intensity, were significantly correlated to AS-OCT iris thickness measurements. We have

Chronic fatigue syndrome and impaired peripheral pulse characteristics on orthostasis–a new potential diagnostic biomarker

International Nuclear Information System (INIS)

Allen, John; Murray, Alan; Di Maria, Costanzo; Newton, Julia L

2012-01-01

Autonomic nervous system dysfunction is frequently reported in chronic fatigue syndrome (CFS) with orthostatic intolerance, a common symptom that can be objectively assessed. The frequent finding of autonomic dysfunction and symptoms on standing has the potential to provide a diagnostic biomarker in chronic fatigue. In this study we explored the clinical value of non-invasive optical multi-site photoplethysmography (PPG) technology to assess cardiovascular responses to standing. Multi-site PPG pulses were collected from tissue pads of the ears, fingers and toes of 14 patients with CFS and 14 age-matched sedentary subjects using a measurement protocol of a 10 min baseline (subject supine) followed by 3 min of tilting on a tilt table (head-up to 70°). Percentage change in pulse timing (pulse transit time, PTTf) and pulse amplitude (AMP) at each site were calculated using beat-to-beat pulse wave analysis. A significant reduction in the overall pulse timing response to controlled standing was found for the CFS group (using summed absolute percentage change in PTTf for ear, finger and toe sites, median change of 26% for CFS and 37% for control with p = 0.002). There were no significant differences between subject groups for the AMP measure at any site. Changes in AMP with tilt were, however, weakly significantly and negatively correlated with fatigue severity (p < 0.05). Receiver operating characteristic (ROC) analysis of timing measures produced an area under the curve of 0.81. Experimental linear discriminant classification analysis comparing both timing and amplitude measures produced an overall diagnostic accuracy of 82%. Pulse wave abnormalities have been observed in CFS and represent a potential objective measure to help differentiate between CFS patients and healthy controls. (paper)

ADHD and Present Hedonism: time perspective as a potential diagnostic and therapeutic tool.

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Weissenberger, S; Klicperova-Baker, M; Zimbardo, P; Schonova, K; Akotia, D; Kostal, J; Goetz, M; Raboch, J; Ptacek, R

2016-01-01

The article draws primarily from the behavioral findings (mainly psychiatric and psychological observations) and points out the important relationships between attention-deficit/hyperactivity disorder (ADHD) symptoms and time orientation. Specifically, the authors argue that there is a significant overlap between the symptoms of ADHD and Present Hedonism. Present Hedonism is defined by Zimbardo's time perspective theory and assessed by Zimbardo Time Perspective Inventory. Developmental data on Present Hedonism of males and females in the Czech population sample (N=2201) are also presented. The hypothesis of relationship between ADHD and Present Hedonism is mainly derived from the prevalence of addictive behavior (mainly excessive Internet use, alcohol abuse, craving for sweets, fatty foods, and fast foods), deficits in social learning, and increased aggressiveness both in ADHD and in the population scoring high on Present Hedonism in the Zimbardo Time Perspective Inventory. We conclude that Zimbardo's time perspective offers both: 1) a potential diagnostic tool - the Zimbardo Time Perspective Inventory, particularly its Present Hedonism scale, and 2) a promising preventive and/or therapeutic approach by the Time Perspective Therapy. Time Perspective Therapy has so far been used mainly to treat past negative trauma (most notably, posttraumatic stress disorder); however, it also has value as a potential therapeutic tool for possible behavioral compensation of ADHD.

Genetics of rare mesenchymal tumors: implications for targeted treatment in DFSP, ASPS, CCS, GCTB and PEComa.

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Rutkowski, Piotr; Przybył, Joanna; Świtaj, Tomasz

2014-08-01

Soft tissue and bone sarcomas comprise a heterogeneous group of mesenchymal tumors that include roughly 130 distinct diagnostic entities. Many of them are exceptionally rare, with only few cases diagnosed worldwide each year. Development of novel targeted treatment in this group of tumors is of special importance since many sarcoma subtypes are resistant to conventional chemotherapy and the effective therapeutic options are limited. In this review we aim to discuss the molecular implications for targeted therapy in selected rare soft tissue and bone sarcoma subtypes, including dermatofibrosarcoma protuberans (DFSP), alveolar soft part sarcoma (ASPS), clear cell sarcoma (CCS), giant cell tumor of bone (GCTB) and perivascular epithelioid cell neoplasms (PEComas). This article is part of a Directed Issue entitled: Rare cancers. Copyright © 2014 Elsevier Ltd. All rights reserved.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

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Daoud, Hussein; Luco, Stephanie M.; Li, Rui; Bareke, Eric; Beaulieu, Chandree; Jarinova, Olga; Carson, Nancy; Nikkel, Sarah M.; Graham, Gail E.; Richer, Julie; Armour, Christine; Bulman, Dennis E.; Chakraborty, Pranesh; Geraghty, Michael; Lines, Matthew A.; Lacaze-Masmonteil, Thierry; Majewski, Jacek; Boycott, Kym M.; Dyment, David A.

2016-01-01

Background: Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosis when no recognizable syndrome is suspected. For this pilot project, we assessed the feasibility of next-generation sequencing as a tool to improve the diagnosis of rare diseases in newborns in the NICU. Methods: We retrospectively identified and prospectively recruited newborns and infants admitted to the NICU of the Children’s Hospital of Eastern Ontario and the Ottawa Hospital, General Campus, who had been referred to the medical genetics or metabolics inpatient consult service and had features suggesting an underlying genetic or metabolic condition. DNA from the newborns and parents was enriched for a panel of clinically relevant genes and sequenced on a MiSeq sequencing platform (Illumina Inc.). The data were interpreted with a standard informatics pipeline and reported to care providers, who assessed the importance of genotype–phenotype correlations. Results: Of 20 newborns studied, 8 received a diagnosis on the basis of next-generation sequencing (diagnostic rate 40%). The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys–Drash syndrome. Interpretation: This pilot study highlighted the potential of next-generation sequencing to deliver molecular diagnoses rapidly with a high success rate. With broader use, this approach has the potential to alter health care delivery in the NICU. PMID:27241786

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

Science.gov (United States)

Daoud, Hussein; Luco, Stephanie M; Li, Rui; Bareke, Eric; Beaulieu, Chandree; Jarinova, Olga; Carson, Nancy; Nikkel, Sarah M; Graham, Gail E; Richer, Julie; Armour, Christine; Bulman, Dennis E; Chakraborty, Pranesh; Geraghty, Michael; Lines, Matthew A; Lacaze-Masmonteil, Thierry; Majewski, Jacek; Boycott, Kym M; Dyment, David A

2016-08-09

Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosis when no recognizable syndrome is suspected. For this pilot project, we assessed the feasibility of next-generation sequencing as a tool to improve the diagnosis of rare diseases in newborns in the NICU. We retrospectively identified and prospectively recruited newborns and infants admitted to the NICU of the Children's Hospital of Eastern Ontario and the Ottawa Hospital, General Campus, who had been referred to the medical genetics or metabolics inpatient consult service and had features suggesting an underlying genetic or metabolic condition. DNA from the newborns and parents was enriched for a panel of clinically relevant genes and sequenced on a MiSeq sequencing platform (Illumina Inc.). The data were interpreted with a standard informatics pipeline and reported to care providers, who assessed the importance of genotype-phenotype correlations. Of 20 newborns studied, 8 received a diagnosis on the basis of next-generation sequencing (diagnostic rate 40%). The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome. This pilot study highlighted the potential of next-generation sequencing to deliver molecular diagnoses rapidly with a high success rate. With broader use, this approach has the potential to alter health care delivery in the NICU. © 2016 Canadian Medical Association or its licensors.

4D co-registration of X-ray and MR-mammograms: initial clinical results and potential incremental diagnostic value.

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Dietzel, Matthias; Hopp, Torsten; Ruiter, Nicole V; Kaiser, Clemens G; Kaiser, Werner A; Baltzer, Pascal A

2015-01-01

4D co-registration of X-ray- and MR-mammograms (XM and MM) is a new method of image fusion. The present study aims to evaluate its clinical feasibility, radiological accuracy, and potential clinical value. XM and MM of 25 patients were co-registered. Results were evaluated by a blinded reader. Precision of the 4D co-registration was "very good" (mean-score [ms]=7), and lesions were "easier to delineate" (ms=5). In 88.8%, "relevant additional diagnostic information" was present, accounting for a more "confident diagnosis" in 76% (ms=5). 4D co-registration is feasible, accurate, and of potential clinical value. Copyright © 2015 Elsevier Inc. All rights reserved.

Pyogenic granuloma associated with periodontal abscess and bone loss - A rare case report

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Bhrugesh J Panseriya

2011-01-01

Full Text Available A diverse group of the pathologic process can produce the enlargement of soft tissues in the oral cavity and often present a diagnostic challenge. This soft tissue enlargement may represent a variation of the normal anatomic structure, inflammatory reaction, cyst, neoplasm, and developmental anomalies. A group of reactive hyperplasias, which develop in response to chronic recurring tissue injury that stimulates an excessive tissue repair response. The pyogenic granuloma (PG is a reactive enlargement that is an inflammatory response to local irritation such as calculus, a fractured tooth, rough dental restoration, and foreign materials or hormonal (pregnancy tumor and rarely associated with bone loss. This paper presents a rare case of PG associated with periodontal abscess and bone loss in a 30-year-old male.

Pyogenic granuloma associated with periodontal abscess and bone loss - A rare case report.

Science.gov (United States)

Panseriya, Bhrugesh J; Hungund, Shital

2011-07-01

A diverse group of the pathologic process can produce the enlargement of soft tissues in the oral cavity and often present a diagnostic challenge. This soft tissue enlargement may represent a variation of the normal anatomic structure, inflammatory reaction, cyst, neoplasm, and developmental anomalies. A group of reactive hyperplasias, which develop in response to chronic recurring tissue injury that stimulates an excessive tissue repair response. The pyogenic granuloma (PG) is a reactive enlargement that is an inflammatory response to local irritation such as calculus, a fractured tooth, rough dental restoration, and foreign materials or hormonal (pregnancy tumor) and rarely associated with bone loss. This paper presents a rare case of PG associated with periodontal abscess and bone loss in a 30-year-old male.

Current and Potential Developments of Cortisol Aptasensing towards Point-of-Care Diagnostics (POTC

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Azrul Syafiq Zainol Abidin

2017-05-01

Full Text Available Anxiety is a psychological problem that often emerges during the normal course of human life. The detection of anxiety often involves a physical exam and a self-reporting questionnaire. However, these approaches have limitations, as the data might lack reliability and consistency upon application to the same population over time. Furthermore, there might be varying understanding and interpretations of the particular question by the participant, which necessitating the approach of using biomarker-based measurement for stress diagnosis. The most prominent biomarker related to stress, hormone cortisol, plays a key role in the fight-or-flight situation, alters the immune response, and suppresses the digestive and the reproductive systems. We have taken the endeavour to review the available aptamer-based biosensor (aptasensor for cortisol detection. The potential point-of-care diagnostic strategies that could be harnessed for the aptasensing of cortisol were also envisaged.

Rare earth germanates

International Nuclear Information System (INIS)

Bondar', I.A.; Vinogradova, N.V.; Dem'yanets, L.N.

1983-01-01

Rare earth germanates attract close attention both as an independent class of compounds and analogues of a widely spread class of natural and synthetic minerals. The methods of rare earth germanate synthesis (solid-phase, hydrothermal) are considered. Systems on the basis of germanium and rare earth oxides, phase diagrams, phase transformations are studied. Using different chemical analysese the processes of rare earth germanate formation are investigated. IR spectra of alkali and rare earth metal germanates are presented, their comparative analysis being carried out. Crystal structures of the compounds, lattice parameters are studied. Fields of possible application of rare earth germanates are shown

Soft Tissue Tumor Immunohistochemistry Update: Illustrative Examples of Diagnostic Pearls to Avoid Pitfalls.

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Wei, Shi; Henderson-Jackson, Evita; Qian, Xiaohua; Bui, Marilyn M

2017-08-01

- Current 2013 World Health Organization classification of tumors of soft tissue arranges these tumors into 12 groups according to their histogenesis. Tumor behavior is classified as benign, intermediate (locally aggressive), intermediate (rarely metastasizing), and malignant. In our practice, a general approach to reaching a definitive diagnosis of soft tissue tumors is to first evaluate clinicoradiologic, histomorphologic, and cytomorphologic features of the tumor to generate some pertinent differential diagnoses. These include the potential line of histogenesis and whether the tumor is benign or malignant, and low or high grade. Although molecular/genetic testing is increasingly finding its applications in characterizing soft tissue tumors, currently immunohistochemistry still not only plays an indispensable role in defining tumor histogenesis, but also serves as a surrogate for underlining molecular/genetic alterations. Objective- To provide an overview focusing on the current concepts in the classification and diagnosis of soft tissue tumors, incorporating immunohistochemistry. This article uses examples to discuss how to use the traditional and new immunohistochemical markers for the diagnosis of soft tissue tumors. Practical diagnostic pearls, summary tables, and figures are used to show how to avoid diagnostic pitfalls. - Data were obtained from pertinent peer-reviewed English-language literature and the authors' first-hand experience as bone and soft tissue pathologists. - -The ultimate goal for a pathologist is to render a specific diagnosis that provides diagnostic, prognostic, and therapeutic information to guide patient care. Immunohistochemistry is integral to the diagnosis and management of soft tissue tumors.

Corrosion-electrochemical and mechanical properties of aluminium-berylium alloys alloyed by rare-earth metals

International Nuclear Information System (INIS)

Safarov, A.M.; Odinaev, Kh.E.; Shukroev, M.Sh.; Saidov, R.Kh.

1997-01-01

In order to study influence of rare earth metals on corrosion-electrochemical and mechanical properties of aluminium-berylium alloys the alloys contain 1 mass % beryllium and different amount of rare earth metals were obtained.-electrochemical and mechanical properties of aluminium-berylium alloys. The electrochemical characteristics of obtained alloys, including stationary potential, potentials of passivation beginning and full passivation, potentials of pitting formation and re passivation were defined.

Marine Phosphorites as Potential Resources for Heavy Rare Earth Elements and Yttrium

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James R. Hein

2016-08-01

Full Text Available Marine phosphorites are known to concentrate rare earth elements and yttrium (REY during early diagenetic formation. Much of the REY data available are decades old and incomplete, and there has not been a systematic study of REY distributions in marine phosphorite deposits that formed over a range of oceanic environments. Consequently, we initiated this study to determine if marine phosphorite deposits found in the global ocean host REY concentrations of high enough grade to be of economic interest. This paper addresses continental-margin (CM and open-ocean seamount phosphorites. All 75 samples analyzed are composed predominantly of carbonate fluorapatite and minor detrital and authigenic minerals. CM phosphorites have low total REY contents (mean 161 ppm and high heavy REY (HREY complements (mean 49%, while seamount phosphorites have 4–6 times higher individual REY contents (except for Ce, which is subequal; mean ΣREY 727 ppm, and very high HREY complements (mean 60%. The predominant causes of higher concentrations and larger HREY complements in seamount phosphorites compared to CM phosphorites are age, changes in seawater REY concentrations over time, water depth of formation, changes in pH and complexing ligands, and differences in organic carbon content in the depositional environments. Potential ore deposits with high HREY complements, like the marine phosphorites analyzed here, could help supply the HREY needed for high-tech and green-tech applications without creating an oversupply of the LREY.

Adapting Knowledge Translation Strategies for Rare Rheumatic Diseases.

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Cellucci, Tania; Lee, Shirley; Webster, Fiona

2016-08-01

Rare rheumatic diseases present unique challenges to knowledge translation (KT) researchers. There is often an urgent need to transfer knowledge from research findings into clinical practice to facilitate earlier diagnosis and better outcomes. However, existing KT frameworks have not addressed the specific considerations surrounding rare diseases for which gold standard evidence is not available. Several widely adopted models provide guidance for processes and problems associated with KT. However, they do not address issues surrounding creation or synthesis of knowledge for rare diseases. Additional problems relate to lack of awareness or experience in intended knowledge users, low motivation, and potential barriers to changing practice or policy. Strategies to address the challenges of KT for rare rheumatic diseases include considering different levels of evidence available, linking knowledge creation and transfer directly, incorporating patient and physician advocacy efforts to generate awareness of conditions, and selecting strategies to address barriers to practice or policy change.

Hyperthyroidism, hyperfunctioning thyroid nodule, and thyroid cancer in a young female: a rare and unusual coexistence.

Science.gov (United States)

Hernán-Martínez, José; Uzcategui, María; Corder, Eric; Castillo, Manuel; Sostre, Samuel; Alicea, Luz

2010-03-01

The prevalence of concomitant thyroid carcinoma with Grave's disease has been reported to range from 0 to 10%. Many controversies exist in the literature regarding the diagnostic workup and management in these types of patients. We are reporting a case of a 31 year old woman who had Graves' disease, a palpable thyroid nodule, and results from a thyroid scan revealed a "hot" nodule. Interestingly, an ultrasound guided FNA of the "hot" nodule showed papillary thyroid microcarcinoma. Finally, a total thyroidectomy showed multilobar tumor involvement. The diagnostic tools employed to establish the proper management strategy for this patient were based on data in the literature that is full of discrepancies. The fact that Grave's disease occurs concomitantly with thyroid cancer, specifically the papillary type, is an indisputably rare combination. One rare feature on our clinical case was the reported malignancy of a papillary carcinoma within a "hot" nodule which usually is much less that 1%. Many studies describe an increasing incidence of Grave's disease patients with concomitant papillary thyroid carcinoma. One possible explanation for these findings could be improvements in medical technology of screening tools. We propose that, thyroid ultrasonography should be integrated in the diagnostic workup in patients presenting with Graves' disease, especially in those presenting with palpable nodules. Fine needle biopsy should not be restricted to cold nodules.

The Role of microRNAs in the Biology of Rare Diseases

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Domenica Taruscio

2011-10-01

Full Text Available Rare diseases (RD are characterized by low prevalence and affect not more than five individuals per 10,000 in the European population; they are a large and heterogeneous group of disorders including more than 7,000 conditions and often involve all organs and tissues, with several clinical subtypes within the same disease. Very often information concerning either diagnosis and/or prognosis on many RD is insufficient. microRNAs are a class of small non-coding RNAs that regulate gene expression at the posttranscriptional level by either degrading or blocking translation of messenger RNA targets. Recently, microRNA expression patterns of body fluids underscored their potential as noninvasive biomarkers for various diseases. The role of microRNAs as potential biomarkers has become particularly attractive. The identification of disease-related microRNAs is essential for understanding the pathogenesis of diseases at the molecular level, and is critical for designing specific molecular tools for diagnosis, treatment and prevention. Computational analysis of microRNA-disease associations is an important complementary means for prioritizing microRNAs for further experimental examination. In this article, we explored the added value of miRs as biomarkers in a selected panel of RD hitting different tissues/systems at different life stages, but sharing the need of better biomarkers for diagnostic and prognostic purposes.

A diagnostic dilemma of cryptogenic organising pneumonia.

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Gurung, K

2012-01-01

Cryptogenic Organising Pneumonia is a rare lung condition, which has incidence of 6-9 cases per 1,000,000 people with onset at age group between 50-60. The pathogenesis of this condition remains unknown. It mimics like pneumonia but has a good outcome with steroid treatment. Early recognition is very important and treatment with steroid therapy can save lives. This case highlights the unusual cause of shortness of breath due to COP and co existing incidental severe AS where we faced a diagnostic dilemma till lung biopsy was performed.

Neuroleptic malignant syndrome: A review of the clinical/diagnostic features and report of a case without fever

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Okwudili Obayi

2017-01-01

Full Text Available Neuroleptic malignant syndrome (NMS is an uncommon but potentially fatal idiosyncratic reaction characterized by the development of altered consciousness, hyperthermia, autonomic dysfunction, and muscular rigidity on exposure to antipsychotic (or some other psychotropic medications. It is a medical emergency that requires early prompt identification and intervention. Fever is a predominant symptom in NMS. However, there have been reports that the classical high temperature usually associated with NMS may, on rare occasions, be absent. Case presentation This review and case report focus on the clinical/diagnostic features of NMS and a report of an unusual case without the classical high grade fever in a 27- year old male patient with schizophrenia who had been on high doses of multiple typical and atypical antipsychotic drugs. Conclusion This case report serves to remind clinicians of the essential features in the diagnosis of NMS and supports earlier reports that the classical high temperature usually associated with NMS may, on rare occasions, be absent and that would not exclude the diagnosis.

In-service diagnostics of pumping facilities

International Nuclear Information System (INIS)

Jaros, I.

1987-01-01

The potential is discussed of technical diagnostics in increasing operating reliability of pumping facilities of conventional and nuclear power plants, and in rationalizing the system of their maintenance. Attention is focused on the selection of diagnostic parameters in which the so-called subjective expert methodology is applied, and on the diagnostic system design. At this stage, the construction of the respective facility and the analysis of the failure rate of its individual assemblies should be considered. The selection of diagnostic means directly depends on the selection of diagnostic parameters and is conditional on other factors, such as availability, cost, technical service, and operator's training. Briefly characterized are Czechoslovak standards assessing the mechanical condition of rotary machines from the measurement of the effective value of the rate of their oscillations. (Z.M.)

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Science.gov (United States)

Lochmüller, Hanns; Torrent I Farnell, Josep; Le Cam, Yann; Jonker, Anneliene H; Lau, Lilian Pl; Baynam, Gareth; Kaufmann, Petra; Dawkins, Hugh Js; Lasko, Paul; Austin, Christopher P; Boycott, Kym M

2017-12-01

The International Rare Diseases Research Consortium (IRDiRC) has agreed on IRDiRC Policies and Guidelines, following extensive deliberations and discussions in 2012 and 2013, as a first step towards improving coordination of research efforts worldwide. The 25 funding members and 3 patient umbrella organizations (as of early 2013) of IRDiRC, a consortium of research funders that focuses on improving diagnosis and therapy for rare disease patients, agreed in Dublin, Ireland in April 2013 on the Policies and Guidelines that emphasize collaboration in rare disease research, the involvement of patients and their representatives in all relevant aspects of research, as well as the sharing of data and resources. The Policies and Guidelines provide guidance on ontologies, diagnostics, biomarkers, patient registries, biobanks, natural history, therapeutics, models, publication, intellectual property, and communication. Most IRDiRC members-currently nearly 50 strong-have since incorporated its policies in their funding calls and some have chosen to exceed the requirements laid out, for instance in relation to data sharing. The IRDiRC Policies and Guidelines are the first, detailed agreement of major public and private funding organizations worldwide to govern rare disease research, and may serve as a template for other areas of international research collaboration. While it is too early to assess their full impact on research productivity and patient benefit, the IRDiRC Policies and Guidelines have already contributed significantly to improving transparency and collaboration in rare disease research.

Bioinformatics analysis for evaluation of the diagnostic potentialities of miR-19b, -125b and -205 as liquid biopsy markers of prostate cancer

Science.gov (United States)

Bryzgunova, O. E.; Lekchnov, E. A.; Zaripov, M. M.; Yurchenko, Yu. B.; Yarmoschuk, S. V.; Pashkovskaya, O. A.; Rykova, E. Yu.; Zheravin, A. A.; Laktionov, P. P.

2017-09-01

Presence of tumor-derived cell-free miRNA in biological fluids as well as simplicity and robustness of cell-free miRNA quantification makes them suitable markers for cancer diagnostics. Based on previously published data demonstrating diagnostic potentialities of miR-205 in blood and miR-19b as well as miR-125b in urine of prostate cancer patients, bioinformatics analysis was carried out to follow their involvement in prostate cancer development and select additional miRNA-markers for prostate cancer diagnostics. Studied miRNAs are involved in different signaling pathways and regulate a number of genes involved in cancer development. Five of their targets (CCND1, BRAF, CCNE1, CCNE2, RAF1), according to the STRING database, act as part of the same signaling pathway. RAF1 is regulated by miR-19b and miR-125b, and it was shown to be involved in prostate cancer development by DIANA and STRING databases. Thus, other microRNAs regulating RAF1 expression such as miR-16, -195, -497, and -7 (suggested by DIANA, TargetScan, MiRTarBase and miRDB databases) can potentially be regarded as prostate cancer markers.

[A rare cause of optic neuropathy: Cassava].

Science.gov (United States)

Zeboulon, P; Vignal-Clermont, C; Baudouin, C; Labbé, A

2016-06-01

Cassava root is a staple food for almost 500 million people worldwide. Excessive consumption of it is a rare cause of optic neuropathy. Ten patients diagnosed with cassava root related optic neuropathy were included in this retrospective study. Diagnostic criteria were a bilateral optic neuropathy preceded by significant cassava root consumption. Differential diagnoses were excluded through a neuro-ophthalmic examination, blood tests and a brain MRI. All patients had visual field examination and OCT retinal nerve fiber layer (RNFL) analysis as well as an evaluation of their cassava consumption. All patients had a bilateral optic nerve head atrophy or pallor predominantly located into the temporal sector. Visual field defects consisted of a central or cecocentral scotoma for all patients. RNFL showed lower values only in the temporal sector. Mean duration of cassava consumption prior to the appearance of visual symptoms was 22.7±11.2 years with a mean of 2.57±0.53 cassava-based meals per week. Cassava related optic neuropathy is possibly due to its high cyanide content and enabled by a specific amino-acid deficiency. Cassava root chronic consumption is a rare, underappreciated cause of optic neuropathy and its exact mechanism is still uncertain. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Bladder outlet obstruction due to a small midline prostatic cyst - diagnostic imaging and interventional radiological treatment

International Nuclear Information System (INIS)

Hueppe, T.; Kopka, L.; Friedrich, M.; Kuehn, M.

1992-01-01

We describe a rare case of a bladder outlet obstruction due to a midline prostatic cyst. In the following clinical apperance, diagnostic imaging and therapy by CT-guided punction are reported. Differential diagnosis and therapy are discussed. (orig.) [de

Process technology - rare and refractory metals

International Nuclear Information System (INIS)

Gupta, C.K.; Bose, D.K.

1989-01-01

India has fairly rich resreves of rare and refractory metals. Abundant sources of ilmenite, rutile, zircon and rare earths are found in the placer deposits of the southern and eastern coasts of the country. Columbite-tantalite occur in mica and the mining belts of Bihar and cassiterite deposits are found in Bastar (Madhya Pradesh). Vanadium as a minor associate occurs in bauxites and in the vast deposits of titaniferrous magnetites. Over the years, research and development and pilot plant works in many research organisations in India have built up a sound technological base in the country for process metallurgy of many refractory and rare earth metals starting from their indigenous sources. The present paper provides a comprehensive view of the developments that have taken place till now on the processing of various refractory and rare earth metals with particular reference to the extensive work carried out at the Department of Atomic Energy. The coverage includes mineral benification separation of individual elements, preparation of pure intermediates, techniques of reduction to metal and final purification. The paper also reviews some of the recent developments that have been taken place in these fields and the potential application of these metals in the foreseeable future. (author). 22 refs., 18 fi g., 7 tabs

Rare case of pancreatic cancer with leptomeningeal carcinomatosis

Science.gov (United States)

Yoo, In Kyung; Lee, Hong Sik; Kim, Chang Duk; Chun, Hoon Jai; Jeen, Yoon Tae; Keum, Bora; Kim, Eun Sun; Choi, Hyuk Soon; Lee, Jae Min; Kim, Seung Han; Nam, Seung Joo; Hyun, Jong Jin

2015-01-01

Leptomeningeal carcinomatosis occurs very rarely in patients with pancreatic cancer. Leptomeningeal carcinomatosis is characterized by multifocal seeding of the leptomeninges by malignant cells that originate from a solid tumor. To the best of our knowledge, brain metastasis from pancreatic cancer is extremely rare. Leptomeningeal carcinomatosis is estimated to occur in 3% to 8% of cases of solid tumors. The clinical manifestation usually involves neurological symptoms, including dizziness, headache, vomiting, nausea, and hemiparesis, symptoms similar to those of meningitis or brain tumors. Diagnostic methods for leptomeningeal carcinomatosis include brain magnetic resonance imaging and cerebrospinal fluid examination. Here, we describe a case of leptomeningeal carcinomatosis in which the primary tumor was later determined to be pancreatic cancer. Brain magnetic resonance imaging findings showed mild enhancement of the leptomeninges, and cerebrospinal fluid cytology was negative at first. However, after repeated spinal taps, atypical cells were observed on cerebrospinal fluid analysis and levels of tumor markers such as carbohydrate antigen 19-9 in cerebrospinal fluid were elevated. Abdominal computed tomography, performed to determine the presence of extracerebral tumors, revealed pancreatic cancer. Pancreatic cancer was confirmed histopathologically on examination of an endoscopic ultrasound-guided fine needle aspiration specimen. PMID:25624740

Resources, challenges and way forward in rare mitochondrial diseases research.

Science.gov (United States)

Rajput, Neeraj Kumar; Singh, Vipin; Bhardwaj, Anshu

2015-01-01

Over 300 million people are affected by about 7000 rare diseases globally. There are tremendous resource limitations and challenges in driving research and drug development for rare diseases. Hence, innovative approaches are needed to identify potential solutions. This review focuses on the resources developed over the past years for analysis of genome data towards understanding disease biology especially in the context of mitochondrial diseases, given that mitochondria are central to major cellular pathways and their dysfunction leads to a broad spectrum of diseases. Platforms for collaboration of research groups, clinicians and patients and the advantages of community collaborative efforts in addressing rare diseases are also discussed. The review also describes crowdsourcing and crowdfunding efforts in rare diseases research and how the upcoming initiatives for understanding disease biology including analyses of large number of genomes are also applicable to rare diseases.

Gastric Polyp: A rare cause of Chronic Volvulus in an Adult ...

African Journals Online (AJOL)

Gastric Polyp: A rare cause of Chronic Volvulus in an Adult. ME Mohammed, I Elawad. Abstract. Gastric volvulus is a rare but potentially life-threatening cause of upper gastrointestinal obstruction. It presents clinically with epigastric pain radiating to the back and or left thoracic area or left abdominal quadrant and retching.

Severe angioedema in myxedema coma: a difficult airway in a rare endocrine emergency.

Science.gov (United States)

Lee, Christopher H; Wira, Charles R

2009-10-01

Myxedema coma is the most lethal manifestation of hypothyroidism. It is a true medical emergency and can result in profound hemodynamic instability and airway compromise. Myxedema coma currently remains a diagnostic challenge due to the rarity of cases seen today, and failure to promptly initiate therapy with replacement thyroid hormone can be fatal. As thyroid hormone therapy can take days or weeks to reverse the manifestations of myxedema coma, interim supportive therapy is critical while awaiting clinical improvement. Some patients will require endotracheal intubation in the emergency department (ED), and physicians should be aware that unanticipated posterior pharyngeal edema in myxedema coma could severely complicate airway management. Although mechanical ventilation is a well-described adjunctive therapy for myxedema coma, reports of the potential difficulty in securing a definitive airway in these patients are rare. We describe a case of an unidentified woman who presented to the ED with myxedema coma requiring urgent endotracheal intubation and was found to have extensive posterior pharyngeal angioedema inconsistent with her relatively benign external examination. This case highlights the typical features of myxedema coma and discusses our necessity for a rescue device in definitive endotracheal tube placement. Emergency physicians should anticipate a potentially difficult airway in all myxedema coma patients regardless of the degree of external facial edema present.

Low-temperature phase MnBi compound: A potential candidate for rare-earth free permanent magnets

International Nuclear Information System (INIS)

Ly, V.; Wu, X.; Smillie, L.; Shoji, T.; Kato, A.; Manabe, A.; Suzuki, K.

2014-01-01

Highlights: • The spin reorientation temperature of MnBi is suppressed by nanoscale grain refinement. • Hardness parameter of MnBi reaches as large as 2.8 at 580 K. • MnBi has a great potential as a hard phase in rare-earth free nanocomposite magnets. • Improving the surface passivity is a remaining task for MnBi-based permanent magnets. - Abstract: The low-temperature phase (LTP) MnBi is one of the few rare-earth free compounds that exhibit a large magnetocrystalline anisotropy energy in the order of 10 6 J/m 3 . A large coercive field (μ 0 H cj ) above 1 T can be obtained readily by reducing the crystallite size (D) through mechanical grinding (MG). The room-temperature H cj values follow a phenomenological expression μ 0 H cj = μ 0 H a (δ/D) n where the anisotropy field (μ 0 H a ) is ∼4 T, the Bloch wall width (δ) is 7 nm and the exponent (n) is about 0.7 in our study. The grain refinement upon MG is accompanied by suppression of the spin reorientation transition temperature (T SR ) from 110 K to below 50 K. The coercive field starts to exhibit positive temperature dependence approximately 50 K above T SR and the room-temperature magnetic hardening induced by MG could partially be brought about by the lowered onset of this positive temperature dependence. The suppression of T SR by MG is likely to be induced by the surface anisotropy with which the 2nd order crystal field term is enhanced. One of the shortcomings of LTP-MnBi is its poor phase stability under the ambient atmosphere. The spontaneous magnetization decreases considerably after room-temperature aging for 1 week. This is due to oxidation of Mn which leads to decomposition of the MnBi phase. Hence, the surface passivity needs to be established before this material is considered for a permanent magnet in practical uses. Another shortcoming is the limited spontaneous magnetization. The theoretical upper limit of the maximum energy product in LTP-MnBi remains only a quarter of that in Nd 2

Low-temperature phase MnBi compound: A potential candidate for rare-earth free permanent magnets

Energy Technology Data Exchange (ETDEWEB)

Ly, V.; Wu, X.; Smillie, L. [Department of Materials Engineering, Monash University, Clayton, VIC 3800 (Australia); Shoji, T.; Kato, A.; Manabe, A. [Toyota Motor Corporation, Mishuku, Susono, Shizuoka 410-1193 (Japan); Suzuki, K., E-mail: kiyonori.suzuki@monash.edu [Department of Materials Engineering, Monash University, Clayton, VIC 3800 (Australia)

2014-12-05

Highlights: • The spin reorientation temperature of MnBi is suppressed by nanoscale grain refinement. • Hardness parameter of MnBi reaches as large as 2.8 at 580 K. • MnBi has a great potential as a hard phase in rare-earth free nanocomposite magnets. • Improving the surface passivity is a remaining task for MnBi-based permanent magnets. - Abstract: The low-temperature phase (LTP) MnBi is one of the few rare-earth free compounds that exhibit a large magnetocrystalline anisotropy energy in the order of 10{sup 6} J/m{sup 3}. A large coercive field (μ{sub 0}H{sub cj}) above 1 T can be obtained readily by reducing the crystallite size (D) through mechanical grinding (MG). The room-temperature H{sub cj} values follow a phenomenological expression μ{sub 0}H{sub cj} = μ{sub 0}H{sub a}(δ/D){sup n} where the anisotropy field (μ{sub 0}H{sub a}) is ∼4 T, the Bloch wall width (δ) is 7 nm and the exponent (n) is about 0.7 in our study. The grain refinement upon MG is accompanied by suppression of the spin reorientation transition temperature (T{sub SR}) from 110 K to below 50 K. The coercive field starts to exhibit positive temperature dependence approximately 50 K above T{sub SR} and the room-temperature magnetic hardening induced by MG could partially be brought about by the lowered onset of this positive temperature dependence. The suppression of T{sub SR} by MG is likely to be induced by the surface anisotropy with which the 2nd order crystal field term is enhanced. One of the shortcomings of LTP-MnBi is its poor phase stability under the ambient atmosphere. The spontaneous magnetization decreases considerably after room-temperature aging for 1 week. This is due to oxidation of Mn which leads to decomposition of the MnBi phase. Hence, the surface passivity needs to be established before this material is considered for a permanent magnet in practical uses. Another shortcoming is the limited spontaneous magnetization. The theoretical upper limit of the maximum

Memory-based detection of rare sound feature combinations in anesthetized rats.

Science.gov (United States)

Astikainen, Piia; Ruusuvirta, Timo; Wikgren, Jan; Penttonen, Markku

2006-10-02

It is unclear whether the ability of the brain to discriminate rare from frequently repeated combinations of sound features is limited to the normal sleep/wake cycle. We recorded epidural auditory event-related potentials in urethane-anesthetized rats presented with rare tones ('deviants') interspersed with frequently repeated ones ('standards'). Deviants differed from standards either in frequency alone or in frequency combined with intensity. In both cases, deviants elicited event-related potentials exceeding in amplitude event-related potentials to standards between 76 and 108 ms from the stimulus onset, suggesting the independence of the underlying integrative and memory-based change detection mechanisms of the brain from the normal sleep/wake cycle. The relations of these event-related potentials to mismatch negativity and N1 in humans are addressed.

Some rare Indo-Pacific coral species are probable hybrids.

Directory of Open Access Journals (Sweden)

Zoe T Richards

Full Text Available BACKGROUND: Coral reefs worldwide face a variety of threats and many coral species are increasingly endangered. It is often assumed that rare coral species face higher risks of extinction because they have very small effective population sizes, a predicted consequence of which is decreased genetic diversity and adaptive potential. METHODOLOGY/PRINCIPAL FINDINGS: Here we show that some Indo-Pacific members of the coral genus Acropora have very small global population sizes and are likely to be unidirectional hybrids. Whether this reflects hybrid origins or secondary hybridization following speciation is unclear. CONCLUSIONS/SIGNIFICANCE: The interspecific gene flow demonstrated here implies increased genetic diversity and adaptive potential in these coral species. Rare Acropora species may therefore be less vulnerable to extinction than has often been assumed because of their propensity for hybridization and introgression, which may increase their adaptive potential.

Diagnostic Tools of Pleural Effusion

Science.gov (United States)

2014-01-01

Pleural effusion is not a rare disease in Korea. The diagnosis of pleural effusion is very difficult, even though the patients often complain of typical symptoms indicating of pleural diseases. Pleural effusion is characterized by the pleural cavity filled with transudative or exudative pleural fluids, and it is developed by various etiologies. The presence of pleural effusion can be confirmed by radiological studies including simple chest radiography, ultrasonography, or computed tomography. Identifying the causes of pleural effusions by pleural fluid analysis is essential for proper treatments. This review article provides information on the diagnostic approaches of pleural effusions and further suggested ways to confirm their various etiologies, by using the most recent journals for references. PMID:24920946

Gastrointestinal stromal tumour of the duodenum in childhood: a rare case report

International Nuclear Information System (INIS)

Chiarugi, Massimo; Galatioto, Christian; Lippolis, Piero; Zocco, Giuseppe; Seccia, Massimo

2007-01-01

Gastrointestinal stromal tumours (GISTs) are uncommon primary mesenchymal tumours of the gastrointestinal tract mostly observed in the adults. Duodenal GISTs are relatively rare in adults and it should be regarded as exceptional in childhood. In young patients duodenal GISTs may be a source of potentially lethal haemorrhage and this adds diagnostic and therapeutic dilemmas to the concern about the long-term outcome. A 14-year-old boy was referred to our hospital with severe anaemia due to recurrent episodes of upper gastrointestinal haemorrhage. Endoscopy, small bowel series, scintigraphy and video capsule endoscopy previously done elsewhere were negative. Shortly after the admission, the patient underwent emergency surgery for severe recurrence of the bleeding. At surgery, a 4 cm solid mass arising from the wall of the fourth portion of the duodenum was identified. The invasion and the erosion of the duodenal mucosa was confirmed by intra-operative pushed duodenoscopy. The mass was resected by a full-thickness duodenal wall excision with adequate grossly free margins. Immunohistochemical analysis of the specimen revealed to be positive for CD117 (c-KIT protein) consistent with a diagnosis of GIST. The number of mitoses was < 5/50 HPF. Mutational analysis for c-KIT/PDGFRA tyrosine kinase receptor genes resulted in a wildtype pattern. The patient had an uneventful course and he has remained disease-free during two years of follow-up. Duodenal GISTs in children are very rare and may present with massive bleeding. Cure can be achieved by complete surgical resection, but even in the low-aggressive tumours the long-term outcome may be unpredictable

OHVIRA syndrome: rare cause of chronic vaginal discharge in an unmarried female.

Science.gov (United States)

Nigam, Aruna; Raghunandan, Chitra; Yadav, Reena; Tomer, Shaili; Anand, Rama

2011-09-01

Chronic vaginal discharge in adolescent and young females, not responding to antibiotics, can pose a diagnostic dilemma for many gynecologists and general practitioners. Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome) is a rare congenital anomaly. We present a case of a 22-year-old unmarried female with this syndrome presenting with chronic purulent vaginal discharge. The uniqueness about the case is its much delayed presentation. © 2011 The Authors. Congenital Anomalies © 2011 Japanese Teratology Society.

Diagnostic clinical parasitology: IV. Identification of the blood parasites?

Science.gov (United States)

Garcia, L S; Voge, M

1981-01-01

This is the fourth article in a series of articles entitled "Diagnostic Clinical Parasitology" and contains information on the recovery and identification of human blood parasites. The organisms covered include those that cause the diseases malaria, babesiosis, leishmaniasis, and trypanosomiasis. Some of the filarial worms, which can be considered "blood parasites," have been discussed in the third article in the series, "Identification of the Helminths." Although some of these organisms may rarely be encountered in the laboratory in clinical specimens, they will probably have to be identified in proficiency testing specimens, some of which may not always be representative of patient clinical material. The differences between potential organism recovery from patients coming from endemic areas and from those individuals who become infected with no prior exposure to the organism will also be emphasized. Often, for a number of different reasons, organism recovery and subsequent identification may be more difficult than the textbook imply. It is very important for the technologist to recognize this fact, particularly when dealing with a possibly fatal infection, ie, Plasmodium falciparum.

Skeletal diseases. Diagnostic clinical radiology and differential diagnostics. 2. rev. and enl. ed.

International Nuclear Information System (INIS)

Freyschmidt, J.

1997-01-01

The book focuses on the diagnostic evaluation of idiopathic diseases of the skeleton and bone joints, also including the fundamental healing processes of bone fractures, particularly of stress-induced and pathologic fractures. Ample space has been given to the description and imaging of the course of diseases under treatment by up-to-date therapies, as e.g. for ostitis deformans Paget's disease, or skeletal metastases. This second edition of the book incorporates the progress achieved over the last five years in skeletal diagnostics. The advances in this field have been resulting from basic research work, for instance in molecular biology, or from a variety of completed studies relating to clinical medicine, laboratory chemistry, histopathology and radiology of skeletal diseases, and from experience obtained with the diagnostic radiology methods and techniques, with the potentials and constraints of magnetic resonance imaging (MRI) today being more critically assessed than five years ago. MRI is a modality currently meeting with interest in the context of search for additional diagnostic information, new definition of complete pictures of diseases, or false or overinterpretation of diagnostic findings. (orig./MG). 431 figs [de

Corrosion resistance of chromium-nickel steel containing rare earths

International Nuclear Information System (INIS)

Asatiani, G.N.; Mandzhgaladze, S.N.; Tavadze, L.F.; Chuvatina, S.N.; Saginadze, D.I.

1983-01-01

Effect of additional out-of-furnace treatment with complex alloy (foundry alloy) calcite-silicon-magnesium-rare earth metal on corrosion resistance of the 03Kh18N20M3D3C3B steel has been studied. It is shown that introduction of low additions of rare earths improves its corrosion resistance improves its corrosion resistance in agressive media (in 70% - sulfuric acid) in the range of transition from active to passive state. Effect of additional introduction of rare earth metals is not considerable, if potential of steel corrosion is in the range of stable passive state (32% - sulfuric acid). Additional out-of-furnace treatment with complex foundry alloy, containing rare earth metals, provides a possibility to use a steel with a lower content of Cr, Ni, Mo, than in conventional acid-resistant steels in highly agressive media

Rare earth sulfates

International Nuclear Information System (INIS)

Komissarova, L.N.; Shatskij, V.M.; Pokrovskij, A.N.; Chizhov, S.M.; Bal'kina, T.I.; Suponitskij, Yu.L.

1986-01-01

Results of experimental works on the study of synthesis conditions, structure and physico-chemical properties of rare earth, scandium and yttrium sulfates, have been generalized. Phase diagrams of solubility and fusibility, thermodynamic and crystallochemical characteristics, thermal stability of hydrates and anhydrous sulfates of rare earths, including normal, double (with cations of alkali and alkaline-earth metals), ternary and anion-mixed sulfates of rare earths, as well as their adducts, are considered. The state of ions of rare earths, scandium and yttrium in aqueous sulfuric acid solutions is discussed. Data on the use of rare earth sulfates are given

Solitary Fibrous Tumor of Retromolar Pad; a Rare Challenging Case

Science.gov (United States)

Lotfi, Ali; Mokhtari, Sepideh; Moshref, Mohammad; Shahla, Maryam; Atarbashi Moghadam, Saede

2017-01-01

Solitary fibrous tumor has a wide spectrum of histopathologic features and many tumors show similar microscopic features. This similarity poses diagnostic challenges to the pathologists and immunohistochemical analysis is required in many cases. Moreover, it is a rare entity in orofacial region which consequently would make its diagnosis more challenging in oral cavity. The knowledge of various microscopic patterns of this tumor contributes to a proper diagnosis and prevents unnecessary treatment. This study reports a case of solitary fibrous tumor in the retromolar pad area and discusses its various histological features and differential diagnoses. PMID:28620640

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

Directory of Open Access Journals (Sweden)

Osamu Baba

2013-01-01

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

Rare Case of an Epithelial Cyst in an Intrapancreatic Accessory Spleen Treated by Robot-Assisted Spleen Preserving Distal Pancreatectomy

NARCIS (Netherlands)

van Dijck, Willemijn P M; Groot, Vincent P; Brosens, Lodewijk A A; Hagendoorn, Jeroen; Rinkes, Inne H M Borel; van Leeuwen, Maarten S; Molenaar, I Quintus

2016-01-01

Epithelial cyst in an intrapancreatic accessory spleen (ECIPAS) is exceedingly rare with only 57 cases reported since the first publication in 1980. Comprehensive clinical and diagnostic features remain to be clarified. We present a case of ECIPAS in a 21-year-old Philippine woman who was admitted

Cable Diagnostic Focused Initiative

Energy Technology Data Exchange (ETDEWEB)

Hartlein, R.A.; Hampton, R.N.

2010-12-30

This report summarizes an extensive effort made to understand how to effectively use the various diagnostic technologies to establish the condition of medium voltage underground cable circuits. These circuits make up an extensive portion of the electric delivery infrastructure in the United States. Much of this infrastructure is old and experiencing unacceptable failure rates. By deploying efficient diagnostic testing programs, electric utilities can replace or repair circuits that are about to fail, providing an optimal approach to improving electric system reliability. This is an intrinsically complex topic. Underground cable systems are not homogeneous. Cable circuits often contain multiple branches with different cable designs and a range of insulation materials. In addition, each insulation material ages differently as a function of time, temperature and operating environment. To complicate matters further, there are a wide variety of diagnostic technologies available for assessing the condition of cable circuits with a diversity of claims about the effectiveness of each approach. As a result, the benefits of deploying cable diagnostic testing programs have been difficult to establish, leading many utilities to avoid the their use altogether. This project was designed to help address these issues. The information provided is the result of a collaborative effort between Georgia Tech NEETRAC staff, Georgia Tech academic faculty, electric utility industry participants, as well as cable system diagnostic testing service providers and test equipment providers. Report topics include: •How cable systems age and fail, •The various technologies available for detecting potential failure sites, •The advantages and disadvantages of different diagnostic technologies, •Different approaches for utilities to employ cable system diagnostics. The primary deliverables of this project are this report, a Cable Diagnostic Handbook (a subset of this report) and an online

Risk factors for autism: translating genomic discoveries into diagnostics.

Science.gov (United States)

Scherer, Stephen W; Dawson, Geraldine

2011-07-01

Autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in communication and reciprocal social interaction, and the presence of restricted and repetitive behaviors. The spectrum of autistic features is variable, with severity of symptoms ranging from mild to severe, sometimes with poor clinical outcomes. Twin and family studies indicate a strong genetic basis for ASD susceptibility. Recent progress in defining rare highly penetrant mutations and copy number variations as ASD risk factors has prompted early uptake of these research findings into clinical diagnostics, with microarrays becoming a 'standard of care' test for any ASD diagnostic work-up. The ever-changing landscape of the generation of genomic data coupled with the vast heterogeneity in cause and expression of ASDs (further influenced by issues of penetrance, variable expressivity, multigenic inheritance and ascertainment) creates complexity that demands careful consideration of how to apply this knowledge. Here, we discuss the scientific, ethical, policy and communication aspects of translating the new discoveries into clinical and diagnostic tools for promoting the well-being of individuals and families with ASDs.

Circulating Plasma Levels of MicroRNA-21 and MicroRNA-221 Are Potential Diagnostic Markers for Primary Intrahepatic Cholangiocarcinoma

Science.gov (United States)

Kemeny, Nancy; Kingham, T. Peter; Allen, Peter J.; D’Angelica, Michael I.; DeMatteo, Ronald P.; Betel, Doron; Klimstra, David; Jarnagin, William R.; Ventura, Andrea

2016-01-01

Background MicroRNAs (miRNAs) are potential biomarkers in various malignancies. We aim to characterize miRNA expression in intrahepatic cholangiocarcinoma (ICC) and identify circulating plasma miRNAs with potential diagnostic and prognostic utility. Methods Using deep-sequencing techniques, miRNA expression between tumor samples and non-neoplastic liver parenchyma were compared. Overexpressed miRNAs were measured in plasma from an independent cohort of patients with cholangiocarcinoma using RT-qPCR and compared with that healthy volunteers. The discriminatory ability of the evaluated plasma miRNAs between patients and controls was evaluated with receiving operating characteristic (ROC) curves. Results Small RNAs from 12 ICC and 11 tumor-free liver samples were evaluated. Unsupervised hierarchical clustering using the miRNA expression data showed clear grouping of ICC vs. non-neoplastic liver parenchyma. We identified 134 down-regulated and 128 upregulated miRNAs. Based on overexpression and high fold-change, miR21, miR200b, miR221, and miR34c were measured in plasma from an independent cohort of patients with ICC (n = 25) and healthy controls (n = 7). Significant overexpression of miR-21 and miR-221 was found in plasma from ICC patients. Furthermore, circulating miR-21 demonstrated a high discriminatory ability between patients with ICC and healthy controls (AUC: 0.94). Conclusion Among the differentially expressed miRNAs in ICC, miR-21 and miR-221 are overexpressed and detectable in the circulation. Plasma expression levels of these miRNAs, particularly miR-21, accurately differentiates patients with ICC from healthy controls and could potentially serve as adjuncts in diagnosis. Prospective validation and comparison with other hepatobiliary malignancies is required to establish their potential role as diagnostic and prognostic biomarkers. PMID:27685844

Radiogenomics: Creating a link between molecular diagnostics and diagnostic imaging

Energy Technology Data Exchange (ETDEWEB)

Rutman, Aaron M. [Department of Radiology, University of California San Diego Medical Center, San Diego, CA 92103 (United States); Kuo, Michael D. [Department of Radiology, University of California San Diego Medical Center, San Diego, CA 92103 (United States); Center for Translational Medical Systems, University of California San Diego Medical Center, San Diego, CA 92103 (United States)], E-mail: mkuo@ucsd.edu

2009-05-15

Studies employing high-throughput biological techniques have recently contributed to an improved characterization of human cancers, allowing for novel sub-classification, better diagnostic accuracy, and more precise prognostication. However, requirement of surgical procurement of tissue among other things limits the clinical application of such methods in everyday patient care. Radiographic imaging is routine in clinical practice but is currently histopathology based. The use of routine radiographic imaging provides a potential platform for linking specific imaging traits with specific gene expression patterns that inform the underlying cellular pathophysiology; imaging features could then serve as molecular surrogates that contribute to the diagnosis, prognosis, and likely gene-expression-associated treatment response of various forms of human cancer. This review focuses on high-throughput methods such as microarray analysis of gene expression, their role in cancer research, and in particular, on novel methods of associating gene expression patterns with radiographic imaging phenotypes, known as 'radiogenomics.' These findings underline a potential future role of both diagnostic and interventional radiologists in genetic assessment of cancer patients with radiographic imaging studies.

Radiogenomics: Creating a link between molecular diagnostics and diagnostic imaging

International Nuclear Information System (INIS)

Rutman, Aaron M.; Kuo, Michael D.

2009-01-01

Studies employing high-throughput biological techniques have recently contributed to an improved characterization of human cancers, allowing for novel sub-classification, better diagnostic accuracy, and more precise prognostication. However, requirement of surgical procurement of tissue among other things limits the clinical application of such methods in everyday patient care. Radiographic imaging is routine in clinical practice but is currently histopathology based. The use of routine radiographic imaging provides a potential platform for linking specific imaging traits with specific gene expression patterns that inform the underlying cellular pathophysiology; imaging features could then serve as molecular surrogates that contribute to the diagnosis, prognosis, and likely gene-expression-associated treatment response of various forms of human cancer. This review focuses on high-throughput methods such as microarray analysis of gene expression, their role in cancer research, and in particular, on novel methods of associating gene expression patterns with radiographic imaging phenotypes, known as 'radiogenomics.' These findings underline a potential future role of both diagnostic and interventional radiologists in genetic assessment of cancer patients with radiographic imaging studies.

Mixed Adenoneuroendocrine Carcinoma Is a Rare but Important Tumour Found in the Oesophagus

DEFF Research Database (Denmark)

Kadhim, Mohammad Murad Kasim; Jespersen, Marie Louise; Pilegaard, Hans Kristian

2016-01-01

Mixed adenoneuroendocrine carcinoma (MANEC) is a rare tumour of the gastrointestinal tract that consists of a dual adenocarcinomatous and neuroendocrine differentiation, each component representing at least 30% of the tumour. We report a case of a 68-year-old man who presented with two...... as poorly differentiated neuroendocrine carcinoma of the oesophagus. The patient underwent surgery and lower oesophagus resection was performed. Based on the histopathology and immunohistochemistry of the tumour in the oesophagogastrectomy specimen, a mixed adenoneuroendocrine carcinoma (MANEC......) was diagnosed. The objective of this case report is to advocate for the focus on the MANEC diagnosis as such patients need to be referred to a centre of excellence with expertise in NET tumours, to have the correct diagnostic work-up, treatment, and secondary diagnostic procedures performed at progression...

Cerebral venous sinus thrombosis: A diagnostic challenge in a rare presentation

Directory of Open Access Journals (Sweden)

Sultan AbdulWadoud Alshoabi

2017-01-01

Full Text Available Cerebral venous sinus thrombosis (CVST is an uncommon, life-threatening condition with a variable clinical presentation that makes it a challenge of diagnosis. A 39-year-old male patient presented to the hospital with complete loss of conscious and admitted to Medical Intensive Care Unit for investigation without any obvious history that was difficult for diagnosis. In this case, the patient presented with coma that is a rare presentation of CVST with no obvious clinical history and he was male patient that means he is free of all gender-specific risk factors of CVST. The brain computed tomography (CT scan showed hypodense lesion in the left upper parietal region with no hemorrhage. The lesion was low-signal intensity (SI on T1WIs and high SI on T2WIs and restricted on diffusion-weighted images like arterial infarctions, but magnetic resonance angiography (MRA was normal that excluded arterial infarction. Gadolinium-enhanced MR venography (MRV showed the filling defect of CVST. CVST can be present by a mysterious clinical presentation that makes it as a challenge of diagnosis even by medical imaging by CT and MR imaging (MRI. A combination of MRI and MRV is the best, noninvasive, and nonionizing imaging modality for the diagnosis of CVST.

Rare earth elements and permanent magnets (invited)

Science.gov (United States)

Dent, Peter C.

2012-04-01

Rare earth (RE) magnets have become virtually indispensible in a wide variety of industries such as aerospace, automotive, electronics, medical, and military. RE elements are essential ingredients in these high performance magnets based on intermetallic compounds RECo5, RE2TM17 (TM: transition metal), and RE2TM14B. Rare earth magnets are known for their superior magnetic properties—high induction, and coercive force. These properties arise due to the extremely high magnetocrystalline anisotropy made possible by unique 3d-4f interactions between transition metals and rare earths. For more than 40 years, these magnets remain the number one choice in applications that require high magnetic fields in extreme operating conditions—high demagnetization forces and high temperature. EEC produces and specializes in RECo5 and RE2TM17 type sintered magnets. Samarium and gadolinium are key RE ingredients in the powder metallurgical magnet production processes which include melting, crushing, jet milling, pressing, sintering, and heat treating. The magnetic properties and applications of these magnets will be discussed. We will also briefly discuss the past, current, and future of the permanent magnet business. Currently, over 95% of all pure rare earth oxides are sourced from China, which currently controls the market. We will provide insights regarding current and potential new magnet technologies and designer choices, which may mitigate rare earth supply chain issues now and into the future.

Harmonising phenomics information for a better interoperability in the rare disease field.

Science.gov (United States)

Maiella, Sylvie; Olry, Annie; Hanauer, Marc; Lanneau, Valérie; Lourghi, Halima; Donadille, Bruno; Rodwell, Charlotte; Köhler, Sebastian; Seelow, Dominik; Jupp, Simon; Parkinson, Helen; Groza, Tudor; Brudno, Michael; Robinson, Peter N; Rath, Ana

2018-02-07

HIPBI-RD (Harmonising phenomics information for a better interoperability in the rare disease field) is a three-year project which started in 2016 funded via the E-Rare 3 ERA-NET program. This project builds on three resources largely adopted by the rare disease (RD) community: Orphanet, its ontology ORDO (the Orphanet Rare Disease Ontology), HPO (the Human Phenotype Ontology) as well as PhenoTips software for the capture and sharing of structured phenotypic data for RD patients. Our project is further supported by resources developed by the European Bioinformatics Institute and the Garvan Institute. HIPBI-RD aims to provide the community with an integrated, RD-specific bioinformatics ecosystem that will harmonise the way phenomics information is stored in databases and patient files worldwide, and thereby contribute to interoperability. This ecosystem will consist of a suite of tools and ontologies, optimized to work together, and made available through commonly used software repositories. The project workplan follows three main objectives: The HIPBI-RD ecosystem will contribute to the interpretation of variants identified through exome and full genome sequencing by harmonising the way phenotypic information is collected, thus improving diagnostics and delineation of RD. The ultimate goal of HIPBI-RD is to provide a resource that will contribute to bridging genome-scale biology and a disease-centered view on human pathobiology. Achievements in Year 1. Copyright © 2018. Published by Elsevier Masson SAS.

Rare Earth Polyoxometalates.

Science.gov (United States)

Boskovic, Colette

2017-09-19

variable-temperature studies have revealed the temperature dependence of the POM-based sensitization, which is relevant for potential applications in phosphor thermometry. Novel RE-POM coordination polymers demonstrate the promise of higher-dimensional materials for catalytic and sensing applications that can make use of either or both rare earth and polyoxometalate capabilities. Finally, structural, electrochemical, and density functional theory studies on a family of modular RE-POMs that incorporate molybdotungstates with amino acid coligands have revealed how closed Mo-oxo loops that are reduced preferentially can act as electron reservoirs in mixed-metal molybdotungstates. This has important implications for mixed-metal polyoxometalates in redox and photoredox catalysis. Notably, these hybrid RE-POMs are stable in solution and maintain the chirality induced by amino acid ligands. The RE-POMs surveyed in this Account provide a glimpse of possible structural features that are accessible with this family of compounds. The studies of the ensuing chemical and physical properties reveal the promise of RE-POMs for diverse and varied applications and lay an excellent foundation for the future development of this new class of functional materials.

High Power Microwave Diagnostic for the Fusion Energy Experiment ITER

DEFF Research Database (Denmark)

Korsholm, Søren Bang; Leipold, Frank; Gonçalves, B.

2016-01-01

Microwave diagnostics will play an increasingly important role in burning plasma fusion energy experiments like ITER and beyond. The Collective Thomson Scattering (CTS) diagnostic to be installed at ITER is an example of such a diagnostic with great potential in present and future experiments...

[A rare case of conductive hearing loss : Isolated fracture of the manubrium mallei as a consequence of digital manipulation in the external auditory meatus].

Science.gov (United States)

Stapper, M; Stange, T

2017-03-01

Isolated fracture of the handle of the malleus is a rare cause of conductive hearing loss and represents a challenge for the otolaryngologist in terms of past medical history, diagnostics, and therapy.

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

Science.gov (United States)

Groza, Tudor; Köhler, Sebastian; Moldenhauer, Dawid; Vasilevsky, Nicole; Baynam, Gareth; Zemojtel, Tomasz; Schriml, Lynn Marie; Kibbe, Warren Alden; Schofield, Paul N.; Beck, Tim; Vasant, Drashtti; Brookes, Anthony J.; Zankl, Andreas; Washington, Nicole L.; Mungall, Christopher J.; Lewis, Suzanna E.; Haendel, Melissa A.; Parkinson, Helen; Robinson, Peter N.

2015-01-01

The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis of next-generation sequence-variation data, and translational research, but a comparable resource has not been available for common disease. Here, we have developed a concept-recognition procedure that analyzes the frequencies of HPO disease annotations as identified in over five million PubMed abstracts by employing an iterative procedure to optimize precision and recall of the identified terms. We derived disease models for 3,145 common human diseases comprising a total of 132,006 HPO annotations. The HPO now comprises over 250,000 phenotypic annotations for over 10,000 rare and common diseases and can be used for examining the phenotypic overlap among common diseases that share risk alleles, as well as between Mendelian diseases and common diseases linked by genomic location. The annotations, as well as the HPO itself, are freely available. PMID:26119816

Primary Sjögren’s syndrome with polymyositis, a rare amalgamation

Directory of Open Access Journals (Sweden)

Harpreet Singh

2018-01-01

Full Text Available Sjögren’s syndrome is characterized by diminished lacrimal and salivary gland secretory function. This disorder is not strictly confined to the exocrine glands and its manifestations may extend to extraglandular sites, such as the lungs, kidneys, reticuloendothelial system, and the musculoskeletal system. Although muscular manifestations are very common with Sjögren’s syndrome, true myopathy is very rare. Here, we report a case of a 45-year-old woman who presented with complaints of bilateral progressive weakness of upper and lower limbs associated with difficulty in neck holding with a history of dryness of the mouth and the eyes. The diagnosis of polymyositis associated with Sjögren’s syndrome was established on the basis of clinical picture and diagnostic tests. True polymyositis is very rare in primary Sjögren syndrome and there are scarcely any cases of primary Sjögren’s syndrome with polymyositis reported in the literature.

Flow Cytometry Method as a Diagnostic Tool for Pleural Fluid Involvement in a Patient with Multiple Myeloma

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MUZAFFER KEKLIK

2012-01-01

Full Text Available

Multiple myeloma is a malignant proliferation of plasma cells that mainly affects bone marrow. Pleural effusions secondary to pleural myelomatous involvement have rarely been reported in the literature. As it is rarely detected, we aimed to report a case in which pleural effusion of a multiple myeloma was confirmed as true myelomatous involvement by flow cytometry method. A 52-years old man presented to our clinic with chest and back pain lasting for 3 months. On the chest radiography, pleural fluid was detected in left hemithorax. Pleural fluid flow cytometry was performed. In the flow cytometry, CD56, CD38 and CD138 found to be positive, while CD19 was negative. True myelomatous pleural effusions are very uncommon, with fewer than 100 cases reported worldwide. Flow cytometry is a potentially useful diagnostic tool for clinical practice. We presented our case; as it has been rarely reported, although flow cytometer is a simple method for detection of pleural fluid involvement in multiple myeloma.

Electrophysiological evidence for colour effects on the naming of colour diagnostic and noncolour diagnostic objects

OpenAIRE

Bramão, I.; Francisco, A.; Inácio , F.; Faísca, L.; Reis, A.; Petersson, K.

2012-01-01

In this study, we investigated the level of visual processing at which surface colour information improves the naming of colour diagnostic and noncolour diagnostic objects. Continuous electroencephalograms were recorded while participants performed a visual object naming task in which coloured and black-and-white versions of both types of objects were presented. The black-and-white and the colour presentations were compared in two groups of event-related potentials (ERPs): (1) The P1 and N1 c...

Separation of Rare Earths from Uranium and Thorium

International Nuclear Information System (INIS)

Krebs, Damien

2014-01-01

Greenland Minerals and Energy - Key Highlights – A unique world class mining project: 1. World-class, large scale development project: • Economically robust, proven technology, large-scale, long life production of rare earths concentrate and uranium; • Large JORC resource base to produce ~7kt HREO, 37kt LREO & 3Mlbs U_3O_8 per annum over 30 year mine life; • Ideally located near international airport, existing towns and potential hydro-electric power source. 2. Very attractive commodity portfolio: • Heavy rare earths and uranium are both recognised as strategically important commodities for the future; • Rare earths market characterised by limited capacity and increasing demand (particularly Dy, Nd, Tb, Eu and Y). 3. Strong management and technical team: • Experienced management team with proven track record; • Well-respected and knowledgeable technical/project team in place with exceptional local expertise. 4. Highly advantageous ore-type, makes for simple cost-effective processing, highly scalable production: • High upgrade through beneficiation brings optionality to Kvanefjeld project; • Leaching can be done in Greenland, or owing to the high-grade concentrate, can be shipped to other locations; • Allows to single concentrator in Greenland, multiple refineries/partners globally. 5. Globally significant, long life, low cost, multi-commodity asset: • Company to become one of the largest producers of rare earths globally and a significant U_3O_8 mine; • Potential to supply >20% of global critical (including heavy) rare earth element demand; • Company has low cost of production due to multiple by-product opportunities. 6. Low political risk: • Stable, low-risk operating environment with government looking to develop new industries and employment; • GME fully permitted to evaluate the project, exploration licence now includes radioactive elements; • Management and board have a solid working relationship with the government and are

Excited argon 1s5 production in micro-hollow cathode discharges for use as potential rare gas laser sources

Science.gov (United States)

Peterson, Richard D.; Eshel, Ben; Rice, Christopher A.; Perram, Glen P.

2018-02-01

The diode-pumped rare gas laser (DPRGL) has been suggested as a potential high-gain, high-energy laser which requires densities on the order of 1013 cm-3 at pressures around 1 atmosphere for efficient operation. Argon 1s5 number densities have been measured in micro-hollow cathode discharges with electrode gaps of 127 and 254 μm and hole diameters from 100-400 μm. The dependency of the metastable argon (1s5) density on total gas pressure, electrode gap distance and hole diameter were explored. The measured densities were all in the range of 0.5 - 2 × 1013 cm-3 with the 400 μm hole diameters being the lowest.

Rare-Earth Tantalates and Niobates Single Crystals: Promising Scintillators and Laser Materials

Directory of Open Access Journals (Sweden)

Renqin Dou

2018-01-01

Full Text Available Rare-earth tantalates, with high density and monoclinic structure, and niobates with monoclinic structure have been paid great attention as potential optical materials. In the last decade, we focused on the crystal growth technology of rare-earth tantalates and niobates and studied their luminescence and physical properties. A series of rare-earth tantalates and niobates crystals have been grown by the Czochralski method successfully. In this work, we summarize the research results on the crystal growth, scintillation, and laser properties of them, including the absorption and emission spectra, spectral parameters, energy levels structure, and so on. Most of the tantalates and niobates exhibit excellent luminescent properties, rich physical properties, and good chemical stability, indicating that they are potential outstanding scintillators and laser materials.

DREAM DIAGNOSTICS: FRITZ MORGENTHALER'S WORK ON DREAMS.

Science.gov (United States)

Binswanger, Ralf

2016-07-01

The unique approach to dreams of Swiss psychoanalyst Fritz Morgenthaler (1919-1984) is presented and discussed. Although rarely discussed in the English-speaking psychoanalytic world, this approach is very alive in German-speaking countries. Focusing on the distinction between the remembered hallucinatory experience of dreamers and the event of telling dreams within psychoanalytic sessions, Morgenthaler made two major innovations: first, he proposed a new understanding and handling of associations to dreams, and second, he offered what he called dream diagnostics as an instrument with which to integrate both resistance and transference into clinical work with dreams. © 2016 The Psychoanalytic Quarterly, Inc.

Synthesis and characterization of rare earth molybdates nanoparticles for detection of specific prostatic cancer (PSA)

International Nuclear Information System (INIS)

Dias, Clarissa Lombardi

2013-01-01

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

Innovation in diagnostic imaging services: assessing the potential for value-based reimbursement.

Science.gov (United States)

Garrison, Louis P; Bresnahan, Brian W; Higashi, Mitchell K; Hollingworth, William; Jarvik, Jeffrey G

2011-09-01

Innovation in the field of diagnostic imaging is based primarily on the availability of new and improved equipment that opens the door for new clinical applications. Payments for these imaging procedures are subject to complex Medicare price control schemes, affecting incentives for appropriate use and innovation. Achieving a "dynamically efficient" health care system-one that elicits a socially optimal amount of innovation-requires that innovators be rewarded in relation to the value they add and can demonstrate with evidence. The authors examine how and whether value-based reimbursement for diagnostic imaging services might better reward innovation explicitly for expected improvements in health and economic outcomes. Copyright © 2011 AUR. Published by Elsevier Inc. All rights reserved.

Zeta potentials of the rare earth element fluorcarbonate minerals focusing on bastnäsite and parisite.

Science.gov (United States)

Owens, C L; Nash, G R; Hadler, K; Fitzpatrick, R S; Anderson, C G; Wall, F

2018-06-01

Rare earth elements (REE) are critical to a wide range of technologies ranging from mobile phones to wind turbines. Processing and extraction of REE minerals from ore bodies is, however, both challenging and relatively poorly understood, as the majority of deposits contain only limited enrichment of REEs. An improved understanding of the surface properties of the minerals is important in informing and optimising their processing, in particular for separation by froth flotation. The measurement of zeta potential can be used to extract information regarding the electrical double layer, and hence surface properties of these minerals. There are over 34 REE fluorcarbonate minerals currently identified, however bastnäsite, synchysite and parisite are of most economic importance. Bastnäsite-(Ce), the most common REE fluorcarbonate, supplies over 50% of the world's REE. Previous studies of bastnäsite have showed a wide range of surface behaviour, with the iso-electric point (IEP), being measured between pH values of 4.6 and 9.3. In contrast, no values of IEP have been reported for parisite or synchysite. In this work, we review previous studies of the zeta potentials of bastnäsite to investigate the effects of different methodologies and sample preparation. In addition, measurements of zeta potentials of parisite under water, collector and supernatant conditions were conducted, the first to be reported. These results showed an iso-electric point for parisite of 5.6 under water, with a shift to a more negative zeta potential with both collector (hydroxamic and fatty acids) and supernatant conditions. The IEP with collectors and supernatant was <3.5. As zeta potential measurements in the presence of reagents and supernatants are the most rigorous way of determining the efficiency of a flotation reagent, the agreement between parisite zeta potentials obtained here and previous work on bastnäsite suggests that parisite may be processed using similar reagent schemes to

The use of MR in cardiological diagnostics

International Nuclear Information System (INIS)

Smith, Hans-Joergen

2004-01-01

Image diagnostics is playing an important role in cardiology, and magnetic resonance tomography (MR) is one of many methods used in examinations of the heart. Based on studies of the literature and his own experience the author surveys the potential of MR in today's and tomorrow's diagnostics of heart diseases. Among the image diagnostic methods MR is the one that can give the most extensive information about the heart's anatomy and function. In a non-invasive way and without the use of ionizing radiation, MR can represent the anatomy in selectable planes, visualize and quantify the heart's pumping function and functioning of the cardiac valves, and give detailed information about the regional contractility, blood flow and viability of myocard. MR is capable of giving important and to some extent unique contributions to heart diseases, both congenital and contracted heart disease. Because of failing availability and competence MR is still little used in cardiological diagnostics, but the method undoubtedly has the potential to play a very important role in the future

Giant teratoma of anterior mediastinum in a 14-year-old girl as an example of potential diagnostic problems and errors

Directory of Open Access Journals (Sweden)

Przemysław Wolak

2013-10-01

Full Text Available Teratomas are tumors originating from the three primary germ layers, most commonly located within gonads or in the sacral region. Chest locations are rare. Mediastinal teratoma showing no tumor-specific symptoms may be treated as exudative pneumonia. The goal of the article was to present a case encountered in our practice as a showcase of possible diagnostic problems and errors. Despite a thorough medical examination with additional exams (ultrasound scans of pleural cavities, chest X-ray and laboratory analyses, the diagnosis of a thoracic tumor was made only after chest computed tomography scan was performed following ineffective attempts at antibiotic therapy and pleural drainage. Following the diagnosis of mediastinal tumor, the patient was subjected to surgery. A giant teratoma (confirmed in histopathological examination was removed upon left-sided thoracotomy. Following the procedure, lung expansion and patient recovery were observed. Computed tomography of the chest should be performed routinely upon encountering difficulties in the treatment of exudative pneumonia in children. In every case of pneumonia with pleural effusion in children, inflammatory mask of mediastinal tumors should be ruled out.

Managing uncertainty: a qualitative study of GPs' views on the diagnosis and immediate management of transient ischaemic attack and the potential of a diagnostic tool.

Science.gov (United States)

Bose, Priyanka; Tarrant, Carolyn; Mistri, Amit K; Wilson, Andrew

2018-04-12

Most patients with transient ischaemic attack (TIA) present to their GP. Early identification and treatment reduces the risk of subsequent stroke and consequent disability and mortality. To explore GPs' views on the diagnosis and immediate management of suspected TIA, and the potential utility of a diagnostic tool. This is a qualitative interview study based in Leicestershire, UK. A purposive sample of 10 GPs participated in 30-minute semi-structured telephone interviews. Data were analysed thematically. GPs reported that TIA was more likely to be suspected when patients were more obvious candidates for TIA based on their history, characteristics and symptom presentation. Referrals were in part a strategy to manage risk under conditions of uncertainty and to seek reassurance. GPs valued using a TIA risk stratification tool but felt this did not inform their diagnostic decision making. A diagnostic tool for TIA in primary care was seen to have potential to improve the decision-making process about diagnosis and management and enhance confidence of GPs, particularly in ruling out TIAs. GPs saw benefits of using hard thresholds, but remained concerned about missing TIAs and saw a tool as an adjunct to clinical judgement. GPs weigh up the likelihood of TIA in the context of assessments of candidacy and diverse, often vague, symptoms. A diagnostic tool could support GPs in this process and help reduce reliance on referrals to TIA clinics for reassurance, provided the tool was designed to support decision making in cases of less 'typical' presentations.

Diagnostic grand rounds: A new teaching concept to train diagnostic reasoning

International Nuclear Information System (INIS)

Stieger, Stefan; Praschinger, Andrea; Kletter, Kurt; Kainberger, Franz

2011-01-01

Introduction: Diagnostic reasoning is a core skill in teaching and learning in undergraduate curricula. Diagnostic grand rounds (DGRs) as a subform of grand rounds are intended to train the students' skills in the selection of appropriate tests and in the interpretation of test results. The aim of this study was to test DGRs for their ability to improve diagnostic reasoning by using a pre-post-test design. Methods: During one winter term, all 398 fifth-year students (36.1% male, 63.9% female) solved 23 clinical cases presented in 8 DGRs. In an online questionnaire, a Diagnostic Thinking Inventory (DTI) with 41 items was evaluated for flexibility in thinking and structure of knowledge in memory. Results were correlated with those from a summative multiple-choice knowledge test and of the learning objectives in a logbook. Results: The students' DTI scores in the post-test were significantly higher than those reported in the pre-test. DTI scores at either testing time did not correlate with medical knowledge as assessed by a multiple-choice knowledge test. Abilities acquired during clinical clerkships as documented in a logbook could only account for a small proportion of the increase in the flexibility subscale score. This effect still remained significant after accounting for potential confounders. Conclusion: Establishing DGRs proofed to be an effective way of successfully improving both students' diagnostic reasoning and the ability to select the appropriate test method in routine clinical practice.

Diagnostic grand rounds: A new teaching concept to train diagnostic reasoning

Energy Technology Data Exchange (ETDEWEB)

Stieger, Stefan, E-mail: stefan.stieger@univie.ac.at [Department of Basic Psychological Research, School of Psychology, University of Vienna, Liebiggasse 5, A-1010 Vienna (Austria); Praschinger, Andrea, E-mail: andrea.praschinger@meduniwien.ac.at [Core Unit for Medical Education (BEMAW), Medical University of Vienna, Spitalgasse 23, BT87, P.O. 10, A-1097 Vienna (Austria); Kletter, Kurt, E-mail: kurt.kletter@meduniwien.ac.at [Department of Nuclear Medicine, General Hospital of Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Kainberger, Franz, E-mail: franz.kainberger@meduniwien.ac.at [Department of Radiology, General Hospital of Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria)

2011-06-15

Introduction: Diagnostic reasoning is a core skill in teaching and learning in undergraduate curricula. Diagnostic grand rounds (DGRs) as a subform of grand rounds are intended to train the students' skills in the selection of appropriate tests and in the interpretation of test results. The aim of this study was to test DGRs for their ability to improve diagnostic reasoning by using a pre-post-test design. Methods: During one winter term, all 398 fifth-year students (36.1% male, 63.9% female) solved 23 clinical cases presented in 8 DGRs. In an online questionnaire, a Diagnostic Thinking Inventory (DTI) with 41 items was evaluated for flexibility in thinking and structure of knowledge in memory. Results were correlated with those from a summative multiple-choice knowledge test and of the learning objectives in a logbook. Results: The students' DTI scores in the post-test were significantly higher than those reported in the pre-test. DTI scores at either testing time did not correlate with medical knowledge as assessed by a multiple-choice knowledge test. Abilities acquired during clinical clerkships as documented in a logbook could only account for a small proportion of the increase in the flexibility subscale score. This effect still remained significant after accounting for potential confounders. Conclusion: Establishing DGRs proofed to be an effective way of successfully improving both students' diagnostic reasoning and the ability to select the appropriate test method in routine clinical practice.

In-office diagnostic arthroscopy for knee and shoulder intra-articular injuries its potential impact on cost savings in the United States

Science.gov (United States)

2014-01-01

Background The purpose of this analysis was to determine whether in office diagnostic needle arthroscopy (Visionscope Imaging System [VSI]) can provide for improved diagnostic assessment and; more cost effective care. Methods Data on arthroscopy procedures in the US for deep seated pathology in the knee and shoulder were used (Calendar Year 2012). These procedures represent approximately 25-30% of all arthroscopic procedures performed annually. Sensitivities, specificities, positive predictive, and negative predictive values for MRI analysis of this deep seated pathology from systematic reviews and meta-analyses were used in assessing for false positive and false negative MRI findings. The costs of performing diagnostic and surgical arthroscopy procedures (using 2013 Medicare reimbursement amounts); costs associated with false negative findings; and the costs for treating associated complications arising from diagnostic and therapeutic arthroscopy procedures were then assessed. Results In patients presenting with medial meniscal pathology (ICD9CM diagnosis 836.0 over 540,000 procedures in CY 2012); use of the VSI system in place of MRI assessment (standard of care) resulted in a net cost savings to the system of $151 million. In patients presenting with rotator cuff pathology (ICD9CM 840.4 over 165,000 procedures in CY2012); use of VSI in place of MRI similarly saved $59 million. These savings were realized along with more appropriate care as; fewer patients were exposed to higher risk surgical arthroscopic procedures. Conclusions The use of an in-office arthroscopy system can: possibly save the US healthcare system money; shorten the diagnostic odyssey for patients; potentially better prepare clinicians for arthroscopic surgery (when needed) and; eliminate unnecessary outpatient arthroscopy procedures, which commonly result in surgical intervention. PMID:24885678

Chlorpyrifos-Induced Delayed Neurotoxicity with A Rare Presentation of Flaccid Quadriplegia: A Diagnostic Challenge

Directory of Open Access Journals (Sweden)

Patrícia Afonso Mendes

2017-10-01

Full Text Available Chlorpyrifos is an organophosphate compound recognized as causing acute toxicity. However, organophosphate-induced delayed polyneuropathy (OPIDP, although rare, has also been described. We describe an unusual presentation of OPIDP with flaccid quadriplegia progressing to a locked-in-like syndrome, 30 days after a 60-year-old man voluntarily ingested chlorpyrifos. In the absence of specific treatment, the patient only recovered partial motor responses and the ability to communicate. The authors present this report in order to highlight a form of OPIDP which can hinder diagnosis due to its atypia and the delay in the onset of symptoms from initial contact with the toxicant.

Diagnostic study on the relation between ozone and vorticity potential

Energy Technology Data Exchange (ETDEWEB)

Abdel Basset, H. [Department of Astronomy and Meteorology, Faculty of Science, Al Azhar University, Nasr City, Cairo (Egypt); Gahein, A. [Egyptian Meteorological Authority, Cairo (Egypt)

2003-04-01

A diagnostic analysis of a Mediterranean system and the associated tropopause folding for the period 27 February to 10 March, 1987 is presented. Geopotential height, potential vorticity (PV) and relative humidity distributions were diagnosed. The analysis indicates clear correlation between the development of the cut-off low and the tropopause folding. A series of vertical cross-sections at the ends of the jet streaks demonstrated that a fold could be captured using potential vorticity and relative humidity. Q-vectors were employed to investigate vertical motion in the vicinity of the fold and showed the exact positions of descent corresponding to the fold along the entire length of the jet streak. The analysis also shows that the strong correlation between total ozone and column integrated vorticity potential holds well for all levels. As both quantities are integrals through the atmosphere, this result is consistent with, but does not prove, a high independent linear dependence between ozone and PV. More case studies are needed to assure the high linear dependence between ozone and PV. The maximum transport of ozone from the stratosphere to the troposphere is coinciding with the maximum developing system, and also with the maximum values of PV. [Spanish] Se presenta un analisis diagnostico de un Sistema mediterraneo y del pliegue de la tropopausa asociado durante el periodo del 27 de febrero al 10 de marzo de 1987. Se diagnosticaron la altitud neopotencial, el potencial de vorticidad y la distribucion de la humedad relativa. El analisis indica una correlacion clara entre el desarrollo de la baja segregada y el pliegue de la tropopausa. Una serie de cortes verticales en los extremos de las trazas del chorro demostraron que el pliegue puede ser capturado utilizando el potencial de vorticidad y la humedad relativa. Para investigar la movilidad vertical en la vecindad del pliegue se utilizaron vectores Q, y se demostraron las posiciones exactas de descenso

Rare earths

International Nuclear Information System (INIS)

1984-01-01

The conference was held from September 12 to 13, 1984 in Jetrichovice, Czechoslovakia. The participants heard 16 papers of which 4 were inputted in INIS. These papers dealt with industrial separation processes of rare earths, the use of chemical methods of separation from the concentrate of apatite and bastnesite, the effect of the relative permittivity of solvents in the elution of rare earth elements from a cation exchanger, and the determination of the content of different rare earth elements using X-ray fluorescence analysis and atomic absorption spectroscopy. (E.S.)

Primary chondrosarcoma of breast - cytology with histopathological correlation: A rare case report with review of literature

Directory of Open Access Journals (Sweden)

Sankappa P. Sinhasan

2014-01-01

Full Text Available Malignant mesenchymal tumors of the breast other than angiosarcoma are extremely rare and comprise <0.5% of breast tumors. Primary chondrosarcoma of the breast is an extremely rare entity and only 10 cases are reported as single case reports in literature until date. A diagnosis of primary mammary sarcoma can be established only after excluding metaplastic carcinomas and malignant phyllodes by extensive sampling for evidence of in situ or invasive carcinoma. Here, we report a primary chondrosarcoma of breast in a 55-year-old lady diagnosed precisely on fine-needle aspiration cytology and confirmed by histopatholigcal examination after total mastectomy. We emphasize on diagnostic difficulties encountered in cytology smears and discuss differential diagnoses.

Microfluidic point-of-care diagnostics for resource-poor environments

Science.gov (United States)

Laksanasopin, Tassaneewan; Chin, Curtis D.; Moore, Hannah; Wang, Jennifer; Cheung, Yuk Kee; Sia, Samuel K.

2009-05-01

Point-of-care (POC) diagnostics have tremendous potential to improve human health in remote and resource-poor settings. However, the design criteria for diagnostic tests appropriate in settings with limited infrastructure are unique and challenging. Here we present a custom optical reader which quantifies silver absorbance from heterogeneous immunoassays. The reader is simple and low-cost and suited for POC diagnostics.

Diagnostic criteria in MR neurography

International Nuclear Information System (INIS)

Baeumer, P.

2017-01-01

Peripheral neuropathies are frequent and can mostly be correctly diagnosed by clinical examination and electrophysiology; however, diagnostically difficult cases are sometimes encountered especially with respect to precise localization of nerve lesions. Imaging of the peripheral nervous system has been shown to provide additional useful diagnostic information. In addition to the more widely available nerve sonography, magnetic resonance neurography (MRN) is the method of choice in diagnostically complex cases. The most important pulse sequence is a T2-weighted fat-saturated pulse sequence with high in-plane resolution and detects increased T2-weighted signals of nerve fascicles as a highly sensitive sign for nerve lesions. Further established diagnostic criteria are nerve caliber and, less commonly used, contrast agent uptake. The spatial pattern of nerve lesions aids in the diagnostic classification of neuropathies. Functional imaging techniques, such as diffusion tensor imaging (DTI) and nerve perfusion are currently under examination with respect to the clinical potential. If all other diagnostic methods, including clinical examination, electrophysiology and nerve sonography do not arrive at an unambiguous diagnosis of a peripheral neuropathy, MRN should be used. The special value of MRN is demonstrated particularly in complex nerve lesions, such as traumatic plexopathies and in partial fascicular neuropathies and many other indications. (orig.) [de

Monstrous venous haemangioma tumor of the retroperitonial space - Diagnosis and diagnostic problems

International Nuclear Information System (INIS)

Leinung, S.; Wuerl, P.; Frey, A.; Schoenfelder, M.; Lotz, I.; Lochhaas, L.

2000-01-01

The preoperative diagnosis and its inherent problems are illustrated using a coincidentally diagnosed monstrous haemangioma tumor of the retroperitonial space in a twenty year old patient. With respect to our patient, X-ray, computer tomography and angiography all failed as diagnostic tools. Only the use of Doppler sonographic flow signals suggested the presence of a haemangioma. The morphology, prognosis and clinical significance of blood vessel tumors are multifaceted. The most important differential diagnoses to the venous haemangioma are the cavernous and the cappilliary haemangioma. The venous haemangioma distinguishes itself through the presence of blood vessel walls. Haemangiomas are common benign tumors. In the presence of highly developed muscular components, there exists a transition to angiomyomas and to leiomyomas. Venal haemangiomas are extremely rare in the demonstrated localisation of the retroperitoneal space. Here they can grow to monstrous preportions whilst remaining undetected. Thus the patient is under the potential danger of bleeding to death through trivial injuries. The therapy of choice reamins total surgical excision. (orig.) [de

Spectroscopic properties of rare earths in optical materials

CERN Document Server

Parisi, Jürgen; Osgood, R; Warlimont, Hans; Liu, Guokui; Jacquier, Bernard

2005-01-01

Aimed at researchers and graduate students, this book provides up-to-date information for understanding electronic interactions that impact the optical properties of rare earth ions in solids. Its goal is to establish a connection between fundamental principles and the materials properties of rare-earth activated luminescent and laser optical materials. The theoretical survey and introduction to spectroscopic properties include electronic energy level structure, intensities of optical transitions, ion-phonon interactions, line broadening, and energy transfer and up-conversion. An important aspect of the book lies in its deep and detailed discussions on materials properties and the potential of new applications such as optical storage, information processing, nanophotonics, and molecular probes that have been identified in recent experimental studies. This volume will be a valuable reference book on advanced topics of rare earth spectroscopy and materials science.

Diagnostic reasoning strategies and diagnostic success.

Science.gov (United States)

Coderre, S; Mandin, H; Harasym, P H; Fick, G H

2003-08-01

Cognitive psychology research supports the notion that experts use mental frameworks or "schemes", both to organize knowledge in memory and to solve clinical problems. The central purpose of this study was to determine the relationship between problem-solving strategies and the likelihood of diagnostic success. Think-aloud protocols were collected to determine the diagnostic reasoning used by experts and non-experts when attempting to diagnose clinical presentations in gastroenterology. Using logistic regression analysis, the study found that there is a relationship between diagnostic reasoning strategy and the likelihood of diagnostic success. Compared to hypothetico-deductive reasoning, the odds of diagnostic success were significantly greater when subjects used the diagnostic strategies of pattern recognition and scheme-inductive reasoning. Two other factors emerged as independent determinants of diagnostic success: expertise and clinical presentation. Not surprisingly, experts outperformed novices, while the content area of the clinical cases in each of the four clinical presentations demonstrated varying degrees of difficulty and thus diagnostic success. These findings have significant implications for medical educators. It supports the introduction of "schemes" as a means of enhancing memory organization and improving diagnostic success.

Main types of rare-metal mineralization in Karelia

Science.gov (United States)

Ivashchenko, V. I.

2016-03-01

Rare-metal mineralization in Karelia is represented by V, Be, U deposits and In, Re, Nb, Ta, Li, Ce, La, and Y occurrences, which are combined into 17 types of magmatic, pegmatite, albitite-greisen, hydrothermal-metasomatic, sedimentary, and epigenetic groups. The main vanadium resources are localized in the Onega ore district. These are deposits of the Padma group (556 kt) and the Pudozhgorsky complex (1.5 Mt). The REE occurrences are primarily characterized by Ce-La specialization. The perspective of HREE is related to the Eletozero-Tiksheozero alkaline and Salmi anorthosite-rapakivi granite complexes. Rare-metal pegmatites bear complex mineralization with insignificant low-grade resources. The Lobash and Jalonvaara porphyry Cu-Mo deposits are potential sources of rhenium: Re contents in molybdenite are 20-70 and 50-246 ppm and hypothetical resources are 12 and 7.5 t, respectively. The high-grade (˜100 ppm) and metallogenic potential of indium (˜2400 t) make the deposits of the Pitkäranta ore district leading in the category of Russian ore objects most prospective for indium. Despite the diverse rare-metal mineralization known in Karelia, the current state of this kind of mineral commodities at the world market leaves real metallogenic perspective only for V, U, Re, In, and Nb.

Potential diagnostic value of regional myocardial adrenergic imaging using {sup 123}I-MIBG SPECT to identify patients with Lewy body diseases

Energy Technology Data Exchange (ETDEWEB)

Lebasnier, Adrien; Peyronnet, Damien; Bouvard, Gerard [University Hospital Center of Caen, Department of Nuclear Medicine, Caen (France); Lamotte, Guillaume; Defer, Gilles [University Hospital Center of Caen, Department of Neurology, Caen (France); Manrique, Alain [University Hospital Center of Caen, Department of Nuclear Medicine, Caen (France); Cyceron PET Centre, Caen (France); Normandie Universite, Caen (France); Agostini, Denis [University Hospital Center of Caen, Department of Nuclear Medicine, Caen (France); Normandie Universite, Caen (France)

2015-01-28

The aim of this study was to determine the potential diagnostic value of regional myocardial adrenergic {sup 123}I-metaiodobenzylguanidine (MIBG) single photon emission computed tomography (SPECT) imaging to identify patients with Lewy body diseases (LBD+). Sixty-four consecutive patients who underwent cardiac {sup 123}I-MIBG SPECT to differentiate LBD+, including Parkinson's disease (PD) and dementia with Lewy bodies (DLB), from patients without LBD (LBD-) were retrospectively reviewed. A neurologist expert in memory disorders determined the final clinical diagnosis by using international clinical diagnostic criteria. Planar [heart to mediastinum ratio (HMR)] and {sup 123}I-MIBG SPECT[innervation defect score (IDS)] using the 17-segment left ventricular model (five-point scale) were obtained 4 h after the injection of {sup 123}I-MIBG on a low-energy high-resolution (LEHR) collimator. Receiver-operating characteristic (ROC) analysis was performed to determine the optimal HMR and IDS cut-off values to discriminate LBD+ from LBD-. Of the 64 patients, 45 (70 %) were diagnosed LBD+ (DLB, n = 27; PD, n = 18) and 19 were diagnosed LBD- (5 other dementias, 14 other parkinsonisms). The HMR and IDS of LBD+ were significantly different from those of LBD- (1.30 ± 0.21 vs 1.65 ± 0.26, p < 0.001; 39 ± 28 vs 8 ± 16, p = 0.001). The optimal HMR and IDS cut-off values to discriminate LBD+ (n = 45) from LBD- (n = 19) were 1.47 and 6/68, providing a sensitivity and specificity of 82.2 and 84.2 % and 86.7 and 73.7 %, respectively. Regional myocardial adrenergic {sup 123}I-MIBG imaging SPECT has a potential diagnostic value to identify LBD+. (orig.)

Characteristics and genesis of Rare Earth Element (REE) in western Indonesia

Science.gov (United States)

Handoko, A. D.; Sanjaya, E.

2018-02-01

Rare Earth Element (REE) has unique properties that have been used in many hightech applications. The demand of REE increased recently in the world due to its special properties. Although REE concentration in the crust is higher than gold, economically viable deposits are still rare. Reduction of REE exports by China cause increased prices of REE. Due to this condition, exploration of potential REE mines emerged. Indonesia also participates in this phenomenon, and explore the possibility of REE mines in its area. This review will discuss the characteristics and genesis of REE and its occurrence in western Indonesia; focused in Sumatera, Tin Island, and Kalimantan. The review is done based on literature research from several resources about characteristics of rare earth element in general and in the given area. The research shows that the potential REE mines can be found in several different locations in Indonesia, such as Tin Island, Sumatera, and Kalimantan. Most of them are composed of monazite, zircon, and xenotime as rare earth minerals. Monazite iss known for its elevated number of radioactive elements, so study about radioactive content and more environment friendly ore processing becomes compulsory.

Rare earth point defects in GaN

Energy Technology Data Exchange (ETDEWEB)

Sanna, S.

2007-12-14

In this work we investigate rare earth doped GaN, by means of theoretical simulations. The huge unit cells necessary to model the experimental system, where dilute amount of rare earth ions are used, are handled with the charge self consistent density-functional based-tight binding (SCC-DFTB) calculational scheme. The method has been extended to include LDA+U and simplified self interaction corrected (SIC)-like potentials for the simulation of systems with localised and strongly correlated electrons. A set of tight-binding parameters has been created to model the interaction of GaN with some dopants, including a selection of lanthanide ions interesting due to their optical or magnetic properties (Pr, Eu, Gd, Er and Tm). The f-electrons were treated as valence electrons. A qualitatively correct description of the band gap is crucial for the simulation of rare earth doped GaN, because the luminescence intensity of the implanted samples depends on the size of the host band gap and because the rare earths could introduce charge transition levels near the conduction band. In this work these levels are calculated with the Slater-Janak (SJ) transition state model, which allows an approximate calculation of the charge transition levels by analysing the Kohn-Sham eigenvalues of the DFT. (orig.)

Dermatofibroma-like granular cell tumour: a potential diagnostic pitfall

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Jiri Soukup

2016-11-01

Full Text Available Dermatofibroma-like granular cell tumour (GCT is a rare entity, with only two cases having been described so far. We report another case in a 62-year-old woman, discuss histopathological features, and review other tumours in which granular changes have been observed. Our tumour was composed predominantly of oval-to-spindle granular cells with prominent nucleoli, arranged in short fascicles and storiform pattern, infiltrating around collagen bundles. Immunohistochemical analysis with antibodies against CD31, CD56, CD68, CD117, S-100 protein, inhibin, calretinin, EMA, p53 and MIB-1 was performed, showing expression of CD56, CD68, S-100 protein, inhibin and calretinin. The diagnosis of atypical dermatofibroma-like GCT was made.

Evaluating next-generation sequencing for direct clinical diagnostics in diarrhoeal disease

DEFF Research Database (Denmark)

Joensen, Katrine Grimstrup; Engsbro, A L Ø; Lukjancenko, Oksana

2017-01-01

The accurate microbiological diagnosis of diarrhoea involves numerous laboratory tests and, often, the pathogen is not identified in time to guide clinical management. With next-generation sequencing (NGS) becoming cheaper, it has huge potential in routine diagnostics. The aim of this study...... was to evaluate the potential of NGS-based diagnostics through direct sequencing of faecal samples. Fifty-eight clinical faecal samples were obtained from patients with diarrhoea as part of the routine diagnostics at Hvidovre University Hospital, Denmark. Ten samples from healthy individuals were also included...

Tuberculous Dactylitis with Concomitant Thyroid Involvement: A Rare Presentation of Childhood Tuberculosis.

Science.gov (United States)

Qamar, Sobia; Naz, Farrah; Naz, Samia; Ejaz, Iftikhar

2017-03-01

Extrapulmonary tuberculosis rarely presents as thyroid involvement along with other manifestations, and poses a diagnostic challenge on account of paucibacillary nature of disease. In general, the diagnosis of tuberculosis is based on epidemiological risk factors, clinical features, imaging studies, in addition to a positive skin testing or Interferon Gamma Release Assay (IGRA). A 14-year boy presented with history of fever and weight loss for one year. On examination, he had painful swelling of fingers and toes along with a painless thyroid nodule and squint. Hand X-ray showed lytic-sclerotic lesions in phalanges. MRI of brian showed multiple ring enhancing lesions and radionuclide thyroid scan showed multinodular goitre. Histology showed epithelioid cell granulomas (thyroid and bone) and tuberculomas of brain confirmed tuberculosis. He responded well to four-drug anti-tuberculous therapy and his fever, squint, thyroid nodule, and dactylitis disappeared. Tuberculosis of thyroid, a rare phenomenon, can be diagnosed and treated well; if clinical index of suspicion is kept high, particularly in tuberculosis prevalent areas.

Advances in the Genetic Characterization of Cutaneous Mesenchymal Neoplasms: Implications for Tumor Classification and Novel Diagnostic Markers.

Science.gov (United States)

Compton, Leigh A; Doyle, Leona A

2017-06-01

Cutaneous mesenchymal neoplasms often pose significant diagnostic challenges; many such entities are rare or show clinical and histologic overlap with both other mesenchymal and non-mesenchymal lesions. Recent advances in the genetic classification of many cutaneous mesenchymal neoplasms have not only helped define unique pathologic entities and increase our understanding of their biology, but have also provided new diagnostic markers. This review details these recent discoveries, with a focus on their implications for tumor classification and diagnosis. Copyright © 2017 Elsevier Inc. All rights reserved.

Extraction of rare earths from iron-rich rare earth deposits

OpenAIRE

Bisaka, K.; Thobadi, I.C.; Pawlik, C.

2017-01-01

Rare earth metals are classified as critical metals by the United Nations, as they have found wide application in the fabrication of magnets, particularly those used in green energy technologies which mitigate global warming. Processing of ores containing rare earth elements is complex, and differs according to the nature of each ore. In the conventional process, run of mine (ROM) ores are processed in a physical separation plant to produce a concentrate from which rare earth elements are ext...

Diagnostic radiography: A study in distancing

International Nuclear Information System (INIS)

Reeves, Pauline J.; Decker, Sola

2012-01-01

Aims: This article aims to explore the ways in which diagnostic radiographers use distancing as a tool for emotional management in radiography practice. Methods: This review utilises data from oral history interviews undertaken as part of a larger study documenting the oral history of the diagnostic radiography profession in the United Kingdom as recounted by 24 participants. Results: The results are presented as illustrative of various aspects of the role of the diagnostic radiographer including the initial choice of diagnostic radiography as a profession, the endemic use of particular terminology, the nature of the encounter in diagnostic radiography (including that of sectional imaging) and whether the role is really patient-centred. Conclusions: The article concludes by suggesting that distancing from the patient is mediated by the need for physical touch in order to position the patient for radiography and also makes the suggestion that those opting for diagnostic radiography as a career may do so because they want a profession which is more distanced from the patient and that, even where this is not the case initially, individuals are socialised into adopting the ‘feeling rules’ of the profession. The article concludes by outlining potential areas for further research.

Quality control of diagnostic x-ray units

International Nuclear Information System (INIS)

Marinkovic, O.; Milacic, S.; Jovicic, D.; Tanaskovic, I.

2001-01-01

The quality control program for diagnostic x-ray units has started at the Institute of Occupational and Radiological Health during 1990. It includes, among other measurements, reproducibility of dose, high voltage and exposure time. Dose reproducibility was less than 5% for 70% of tested x-ray units. The exposure time and high voltage reproducibility were less than 5% in 60% cases. The cassettes with amplifying foils made from components of rare earth are used in 10% of all x-ray departments. It is very important to work as much as it is possible to modernize general infrastructure as the radiological protection of patients would be better. (author)

European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program.

Science.gov (United States)

Aarsand, Aasne K; Villanger, Jørild H; Støle, Egil; Deybach, Jean-Charles; Marsden, Joanne; To-Figueras, Jordi; Badminton, Mike; Elder, George H; Sandberg, Sverre

2011-11-01

The porphyrias are a group of rare metabolic disorders whose diagnosis depends on identification of specific patterns of porphyrin precursor and porphyrin accumulation in urine, blood, and feces. Diagnostic tests for porphyria are performed by specialized laboratories in many countries. Data regarding the analytical and diagnostic performance of these laboratories are scarce. We distributed 5 sets of multispecimen samples from different porphyria patients accompanied by clinical case histories to 18-21 European specialist porphyria laboratories/centers as part of a European Porphyria Network organized external analytical and postanalytical quality assessment (EQA) program. The laboratories stated which analyses they would normally have performed given the case histories and reported results of all porphyria-related analyses available, interpretative comments, and diagnoses. Reported diagnostic strategies initially showed considerable diversity, but the number of laboratories applying adequate diagnostic strategies increased during the study period. We found an average interlaboratory CV of 50% (range 12%-152%) for analytes in absolute concentrations. Result normalization by forming ratios to the upper reference limits did not reduce this variation. Sixty-five percent of reported results were within biological variation-based analytical quality specifications. Clinical interpretation of the obtained analytical results was accurate, and most laboratories established the correct diagnosis in all distributions. Based on a case-based EQA scheme, variations were apparent in analytical and diagnostic performance between European specialist porphyria laboratories. Our findings reinforce the use of EQA schemes as an essential tool to assess both analytical and diagnostic processes and thereby to improve patient care in rare diseases.

Ares I-X Ground Diagnostic Prototype

Data.gov (United States)

National Aeronautics and Space Administration — The automation of pre-launch diagnostics for launch vehicles offers three potential benefits: improving safety, reducing cost, and reducing launch delays. The Ares...

Looping Genomes: Diagnostic Change and the Genetic Makeup of the Autism Population.

Science.gov (United States)

Navon, Daniel; Eyal, Gil

2016-03-01

This article builds on Hacking's framework of "dynamic nominalism" to show how knowledge about biological etiology can interact with the "kinds of people" delineated by diagnostic categories in ways that "loop" or modify both over time. The authors use historical materials to show how "geneticization" played a crucial role in binding together autism as a biosocial community and how evidence from genetics research later made an important contribution to the diagnostic expansion of autism. In the second part of the article, the authors draw on quantitative and qualitative analyses of autism rates over time in several rare conditions that are delineated strictly according to genomic mutations in order to demonstrate that these changes in diagnostic practice helped to both increase autism's prevalence and create its enormous genetic heterogeneity. Thus, a looping process that began with geneticization and involved the social effects of genetics research itself transformed the autism population and its genetic makeup.

Duplication urétrale épispade: Diagnostic et prise en charge. à ...

African Journals Online (AJOL)

I. Diabaté

Résumé. La duplication urétrale épispade est une malformation génito-urinaire rare. Elle est caractérisée par la juxtaposition dans le plan sagittal de deux urètres, l'un étant l'urètre principal et l'autre accessoire. Les formes symptomatiques se manifestent par un jet urinaire double et le diagnostic est basé sur l'urétro-.

Metabolomics for laboratory diagnostics.

Science.gov (United States)

Bujak, Renata; Struck-Lewicka, Wiktoria; Markuszewski, Michał J; Kaliszan, Roman

2015-09-10

Metabolomics is an emerging approach in a systems biology field. Due to continuous development in advanced analytical techniques and in bioinformatics, metabolomics has been extensively applied as a novel, holistic diagnostic tool in clinical and biomedical studies. Metabolome's measurement, as a chemical reflection of a current phenotype of a particular biological system, is nowadays frequently implemented to understand pathophysiological processes involved in disease progression as well as to search for new diagnostic or prognostic biomarkers of various organism's disorders. In this review, we discussed the research strategies and analytical platforms commonly applied in the metabolomics studies. The applications of the metabolomics in laboratory diagnostics in the last 5 years were also reviewed according to the type of biological sample used in the metabolome's analysis. We also discussed some limitations and further improvements which should be considered taking in mind potential applications of metabolomic research and practice. Copyright © 2014 Elsevier B.V. All rights reserved.

Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy.

Science.gov (United States)

Eymard, B; Ferreiro, A; Ben Yaou, R; Stojkovic, T

2013-01-01

Muscle diseases may have various clinical manifestations including muscle weakness, atrophy or hypertrophy and joint contractures. A spectrum of non-muscular manifestations (cardiac, respiratory, cutaneous, central and peripheral nervous system) may be associated. Few of these features are specific. Limb joint contractures or spine rigidity, when prevailing over muscle weakness in ambulant patients, are of high diagnostic value for diagnosis orientation. Within this context, among several disorders, four groups of diseases should systematically come to mind including the collagen VI-related myopathies, the Emery-Dreifuss muscular dystrophies, the SEPN1 and FHL1 related myopathies. More rarely other genetic or acquired myopathies may present with marked contractures. Diagnostic work-up should include a comprehensive assessment including family history, neurological, cardiologic and respiratory evaluations. Paraclinical investigations should minimally include muscle imaging and electromyography. Muscle and skin biopsies as well as protein and molecular analyses usually help to reach a precise diagnosis. We will first describe the main muscle and neuromuscular junction diseases where contractures are typically a prominent symptom of high diagnostic value for diagnosis orientation. In the following chapters, we will present clues for the diagnostic strategy and the main measures to be taken when, at the end of the diagnostic work-up, no definite muscular disease has been identified. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Science.gov (United States)

Pena, Loren DM; Jiang, Yong-Hui; Schoch, Kelly; Spillmann, Rebecca C.; Walley, Nicole; Stong, Nicholas; Horn, Sarah Rapisardo; Sullivan, Jennifer A.; McConkie-Rosell, Allyn; Kansagra, Sujay; Smith, Edward C.; El-Dairi, Mays; Bellet, Jane; Ann Keels, Martha; Jasien, Joan; Kranz, Peter G.; Noel, Richard; Nagaraj, Shashi K.; Lark, Robert K.; Wechsler, Daniel SG; del Gaudio, Daniela; Leung, Marco L.; Hendon, Laura G.; Parker, Collette C.; Jones, Kelly L.; Goldstein, David B.; Shashi, Vandana

2017-01-01

Purpose To describe examples of missed pathogenic variants on whole exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing. Methods Guided by phenotypic information, three children with negative WES underwent targeted single gene testing. Results Individual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and an NGS-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software. Individual 2 had neurodevelopmental regression and cerebellar atrophy, with no diagnosis on WES. New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. A novel homozygous deletion of the non-coding exon 1 (not included in the WES capture kit) was detected, with extension into the promoter, confirming the clinical suspicion of infantile neuroaxonal dystrophy. Individual 3 had progressive ataxia, spasticity and MRI changes of vanishing white matter leukoencephalopathy. An NGS leukodystrophy gene panel and WES showed a heterozygous pathogenic variant in EIF2B5; no deletions/duplications were detected. Sanger sequencing of EIF2B5 showed a frameshift indel, likely missed due to failure of alignment. Conclusions These cases illustrate potential pitfalls of WES/NGS testing, and the importance of phenotype-guided molecular testing in yielding diagnoses. PMID:28914269

Facial diplegia: etiology, clinical manifestations, and diagnostic evaluation

Directory of Open Access Journals (Sweden)

Sefer Varol

2015-12-01

Full Text Available ABSTRACT Objective Facial diplegia (FD is a rare neurological manifestation with diverse causes. This article aims to systematically evaluate the etiology, diagnostic evaluation and treatment of FD. Method The study was performed retrospectively and included 17 patients with a diagnosis of FD. Results Patients were diagnosed with Guillain-Barré syndrome (GBS (11, Bickerstaff’s brainstem encephalitis (1, neurosarcoidosis (1, non-Hodgkin’s Lymphoma (1, tuberculous meningitis (1 herpes simplex reactivation (1 and idiopathic (1. In addition, two patients had developed FD during pregnancy. Conclusion Facial diplegia is an ominous symptom with widely varying causes that requires careful investigation.

[Viral hepatitis A - possible diagnostic and therapeutic problems].

Science.gov (United States)

Husa, Petr; Husa, Petr

Viral hepatitis A (VHA) is the disease which has an ancient history. Reports of epidemic jaundice were described by Hippocrates in Greece during the 5th century B.C. Incidence of VHA in developed countries is dropping in last decades. What was once common disease is now very rare, usually emerging in local epidemies. With decreasing incidence of hepatitis A clinicians losing practical experiences with disease. Authors present possible diagnostic and therapeutic problems based on their experience with large epidemic of hepatitis A, which occurred in 2016-2017 in Brno area.Key words: hepatitis A (VHA) - hepatitis A virus (HAV).

Diagnostic time in digital pathology: A comparative study on 400 cases

Directory of Open Access Journals (Sweden)

Aleksandar Vodovnik

2016-01-01

Full Text Available Background: Numerous validation studies in digital pathology confirmed its value as a diagnostic tool. However, a longer time to diagnosis than traditional microscopy has been seen as a significant barrier to the routine use of digital pathology. As a part of our validation study, we compared a digital and microscopic diagnostic time in the routine diagnostic setting. Materials and Methods: One senior staff pathologist reported 400 consecutive cases in histology, nongynecological, and fine needle aspiration cytology (20 sessions, 20 cases/session, over 4 weeks. Complex, difficult, and rare cases were excluded from the study to reduce the bias. A primary diagnosis was digital, followed by traditional microscopy, 6 months later, with only request forms available for both. Microscopic slides were scanned at ×20, digital images accessed through the fully integrated laboratory information management system (LIMS and viewed in the image viewer on double 23” displays. A median broadband speed was 299 Mbps. A diagnostic time was measured from the point slides were made available to the point diagnosis was made or additional investigations were deemed necessary, recorded independently in minutes/session and compared. Results: A digital diagnostic time was 1841 and microscopic 1956 min; digital being shorter than microscopic in 13 sessions. Four sessions with shorter microscopic diagnostic time included more cases requiring extensive use of magnifications over ×20. Diagnostic time was similar in three sessions. Conclusions: A diagnostic time in digital pathology can be shorter than traditional microscopy in the routine diagnostic setting, with adequate and stable network speeds, fully integrated LIMS and double displays as default parameters. This also related to better ergonomics, larger viewing field, and absence of physical slide handling, with effects on both diagnostic and nondiagnostic time. Differences with previous studies included a design

Diagnostic Approaches to Metastatic Hepatocellular Carcinoma of the Orbit.

Science.gov (United States)

Geske, Michael J; Bloomer, Michele M; Kersten, Robert C; Vagefi, M Reza

Orbital metastasis of hepatocellular carcinoma is exceedingly rare and caries a grave prognosis. Three cases of metastatic orbital hepatocellular carcinoma in which the primary tumor was initially unknown and the diagnostic challenges encountered are presented. With hepatocellular carcinoma, open biopsy and palliative tumor debulking has an increased bleeding risk due to the highly vascular nature of the tumor and coagulopathy associated with chronic liver disease. As an alternative, fine needle aspiration biopsy should be considered for hepatocellular carcinoma with a readily accessible mass and the availability of an experienced cytopathologist.

Diagnostic imaging of craniofacial trauma and fractures and their sequelae

International Nuclear Information System (INIS)

Buitrago-Tellez, C.H.; Kunz, C.

2001-01-01

The value and applications of the CT modalities are on the rise, particularly since the availability of spiral CT techniques, while conventional native diagnostics is increasingly used for special imaging purposes. Multiplanar spiral CT enables high-quality coronary 2D reconstructions which, in the acute phase, make redundant primary coronary imaging modalities. Exact knowledge of typical fracture patterns facilitates the analysis of images of the relevant facial areas. 3D reconstructions are indispensable in pin-pointed surgery planning, generation of stereolithographic models, and image-guided interventions for examination of post-traumatic deformities. Since a secondary correction only very rarely leads to restitutio ad integrum, it is necessary to detect the therapy-relevant injuries very early, during acute diagnostic imaging, in order to lay the basis for subsequent therapy and restoration of the craniofacial structures and functions. (orig./CB) [de

Diagnostic Management of Pancreatic Cancer

Energy Technology Data Exchange (ETDEWEB)

Dabizzi, Emanuele [Division of Gastroenterology and Hepatology, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville, Florida 32224 (United States); Assef, Mauricio Saab [Faculdade de Ciências Médicas da Santa Casa de São Paulo, Rua Dr. Cesário Motta Jr. #61 Cep: 01221-020, São Paulo (Brazil); Raimondo, Massimo, E-mail: raimondo.massimo@mayo.edu [Division of Gastroenterology and Hepatology, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville, Florida 32224 (United States)

2011-01-31

Pancreatic cancer is one of the most deadly solid tumors, with an overall 5-year survival rate of less than 5%. Due to a non-specific clinical presentation, it is often diagnosed at an advanced stage and is rarely amenable for curative treatment. Therefore early diagnosis and appropriate staging are still essential to define the best care and to improve patient survival. Several imaging modalities are currently available for the evaluation of pancreatic cancer. This review focuses on different techniques and discusses the diagnostic management of patients with pancreatic cancer. This review was conducted utilizing Pubmed and was limited to papers published within the last 5 years. The search key words pancreatic cancer, pancreatic adenocarcinoma, pancreatic tumors, diagnosis, radiology, imaging, nuclear imaging, endoscopy, endoscopic ultrasound and biochemical markers were used.

Diagnostic Management of Pancreatic Cancer

International Nuclear Information System (INIS)

Dabizzi, Emanuele; Assef, Mauricio Saab; Raimondo, Massimo

2011-01-01

Pancreatic cancer is one of the most deadly solid tumors, with an overall 5-year survival rate of less than 5%. Due to a non-specific clinical presentation, it is often diagnosed at an advanced stage and is rarely amenable for curative treatment. Therefore early diagnosis and appropriate staging are still essential to define the best care and to improve patient survival. Several imaging modalities are currently available for the evaluation of pancreatic cancer. This review focuses on different techniques and discusses the diagnostic management of patients with pancreatic cancer. This review was conducted utilizing Pubmed and was limited to papers published within the last 5 years. The search key words pancreatic cancer, pancreatic adenocarcinoma, pancreatic tumors, diagnosis, radiology, imaging, nuclear imaging, endoscopy, endoscopic ultrasound and biochemical markers were used

Microhardness of epitaxial layers of GaAs doped with rare earths

International Nuclear Information System (INIS)

Kulish, U.M.; Gamidov, Z.S.; Kuznetsova, I.Yu.; Petkeeva, L.N.; Borlikova, G.V.

1989-01-01

Results of the study of microhardness of GaAS layer doped by certain rare earths - Gd, Tb, Dy - are presented. The assumption is made that the higher is the value of the first potential of rare earth impurity ionization (i.e. the higher is the filling of 4f-shell), the lower is the effect of the element on electric and mechanical properties of GaAs epitaxial layers

Rare variants of the 3’-5’ DNA exonuclease TREX1 in early onset small vessel stroke [version 1; referees: 2 approved

Directory of Open Access Journals (Sweden)

Sarah McGlasson

2017-11-01

Full Text Available Background: Monoallelic and biallelic mutations in the exonuclease TREX1 cause monogenic small vessel diseases (SVD. Given recent evidence for genetic and pathophysiological overlap between monogenic and polygenic forms of SVD, evaluation of TREX1 in small vessel stroke is warranted. Methods: We sequenced the TREX1 gene in an exploratory cohort of patients with lacunar stroke (Edinburgh Stroke Study, n=290 lacunar stroke cases. We subsequently performed a fully blinded case-control study of early onset MRI-confirmed small vessel stroke within the UK Young Lacunar Stroke Resource (990 cases, 939 controls. Results: No patients with canonical disease-causing mutations of TREX1 were identified in cases or controls. Analysis of an exploratory cohort identified a potential association between rare variants of TREX1 and patients with lacunar stroke. However, subsequent controlled and blinded evaluation of TREX1 in a larger and MRI-confirmed patient cohort, the UK Young Lacunar Stroke Resource, identified heterozygous rare variants in 2.1% of cases and 2.3% of controls. No association was observed with stroke risk (odds ratio = 0.90; 95% confidence interval, 0.49-1.65 p=0.74. Similarly no association was seen with rare TREX1 variants with predicted deleterious effects on enzyme function (odds ratio = 1.05; 95% confidence interval, 0.43-2.61 p=0.91. Conclusions: No patients with early-onset lacunar stroke had genetic evidence of a TREX1-associated monogenic microangiopathy. These results show no evidence of association between rare variants of TREX1 and early onset lacunar stroke. This includes rare variants that significantly affect protein and enzyme function. Routine sequencing of the TREX1 gene in patients with early onset lacunar stroke is therefore unlikely to be of diagnostic utility, in the absence of syndromic features or family history.

Temperature measurement by thermal strain imaging with diagnostic power ultrasound, with potential for thermal index determination.

Science.gov (United States)

Liang, Hai-Dong; Zhou, Li-Xia; Wells, Peter N T; Halliwell, Michael

2009-05-01

Over the years, there has been a substantial increase in acoustic exposure in diagnostic ultrasound as new imaging modalities with higher intensities and frame rates have been introduced; and more electronic components have been packed into the probe head, so that there is a tendency for it to become hotter. With respect to potential thermal effects, including those which may be hazardous occurring during ultrasound scanning, there is a correspondingly growing need for in vivo techniques to guide the operator as to the actual temperature rise occurring in the examined tissues. Therefore, an in vivo temperature estimator would be of considerable practical value. The commonly-used method of tissue thermal index (TI) measurement with a hydrophone in water could underestimate the actual value of TI (in one report by as much as 2.9 times). To obtain meaningful results, it is necessary to map the temperature elevation in 2-D (or 3-D) space. We present methodology, results and validation of a 2-D spatial and temporal thermal strain ultrasound temperature estimation technique in phantoms, and its apparently novel application in tracking the evolution of heat deposition at diagnostic exposure levels. The same ultrasound probe is used for both transmission and reception. The displacement and thermal strain estimation methods are similar to those used in high-intensity focused ultrasound thermal monitoring. The use of radiofrequency signals permits the application of cross correlation as a similarity measurement for tracking feature displacement. The displacement is used to calculate the thermal strain directly related to the temperature rise. Good agreement was observed between the temperature rise and the ultrasound power and scan duration. Thermal strain up to 1.4% was observed during 4000-s scan. Based on the results obtained for the temperature range studied in this work, the technique demonstrates potential for applicability in phantom (and possibly in vivo tissue

China's rare-earth industry

Science.gov (United States)

Tse, Pui-Kwan

2011-01-01

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

Angiographic appearances of rare renal tumours

International Nuclear Information System (INIS)

Schmidt, M.; Taenzer, V.

1980-01-01

Oncocytomas, called oxyphil proximal tubular adenomas in the Anglo Saxon literature, and benign hypernephromas are non-malignant, usually symptomless, rare tumours belonging to the renal adenomas. Oncocytomas have angiographic appearances sufficiently uniform to permit a tentative diagnosis. Histologically benign hypernephromas do not possess characteristic angiographic appearances and, in the presence of tumour in the renal vein or necrotic avascular areas, must be regarded as potentially malignant. (orig.) [de

Diagnostic accuracy of organ electrodermal diagnostics | Szopinski ...

African Journals Online (AJOL)

Objective. To estimate the diagnostic accuracy as well as the scope of utilisation of a new bio-electronic method of organ diagnostics. Design. Double-blind comparative study of the diagnostic results obtained by means of organ electrodermal diagnostics (OED) and clinical diagnoses, as a criterion standard. Setting.

THE TECHNIQUE OF DIAGNOSTICS OF THE PRODUCTION CAPACITY OF THE ORGANIZATION

Directory of Open Access Journals (Sweden)

E. S. Popova

2014-01-01

Full Text Available In the article due to the need for diagnostics of the production capacity of the organization. Formed methodological framework for evaluating the production potential of the organization. Research capacity will also enable the organization to timely respond to current changes. A classification of types of diagnostics of the production capacity of the organization according to the following criteria: timing, goals, content, purpose results. The article discusses the economic and organizational diagnosis of the production capacity of the organization. Economic diagnosis is based on the calculation of indicators of use of resources of the organization. Organizational diagnosis assesses the security of the organization's activities. Diagnosis productive capacity is the basis for improvement of the organization's activities. Defined diagnostics of the production capacity of the organization. Justified the selection stages of the research production potential. The first stage is the preliminary diagnosis. The second stage provides for the rapid diagnosis of production potential. At the third stage it is advisable to perform problem diagnosis. Problem diagnosis consists of economic and organizational diagnosis. Economic diagnosis assesses the state of the elements of the production potential of the organization. Organizational diagnostics analyses provide productive capacity. The fourth stage is represented by the solution of the problems of utilization of production capacity. Each stage is considered, has its content and specific diagnostic methods of production potential. This method allows determining the state of the elements, the efficiency of utilization of production capacity. The estimation of the production potential is based on the application of utility theory. This assessment provides a definition of the criteria and the scale of usefulness. This will allow you to measure the production potential numerically. In the end, it is revealed

Molecular Pathogenesis and Diagnostic, Prognostic and Predictive Molecular Markers in Sarcoma.

Science.gov (United States)

Mariño-Enríquez, Adrián; Bovée, Judith V M G

2016-09-01

Sarcomas are infrequent mesenchymal neoplasms characterized by notable morphological and molecular heterogeneity. Molecular studies in sarcoma provide refinements to morphologic classification, and contribute diagnostic information (frequently), prognostic stratification (rarely) and predict therapeutic response (occasionally). Herein, we summarize the major molecular mechanisms underlying sarcoma pathogenesis and present clinically useful diagnostic, prognostic and predictive molecular markers for sarcoma. Five major molecular alterations are discussed, illustrated with representative sarcoma types, including 1. the presence of chimeric transcription factors, in vascular tumors; 2. abnormal kinase signaling, in gastrointestinal stromal tumor; 3. epigenetic deregulation, in chondrosarcoma, chondroblastoma, and other tumors; 4. deregulated cell survival and proliferation, due to focal copy number alterations, in dedifferentiated liposarcoma; 5. extreme genomic instability, in conventional osteosarcoma as a representative example of sarcomas with highly complex karyotype. Copyright © 2016 Elsevier Inc. All rights reserved.

Italian cancer figures--Report 2015: The burden of rare cancers in Italy.

Science.gov (United States)

Busco, Susanna; Buzzoni, Carlotta; Mallone, Sandra; Trama, Annalisa; Castaing, Marine; Bella, Francesca; Amodio, Rosalba; Bizzoco, Sabrina; Cassetti, Tiziana; Cirilli, Claudia; Cusimano, Rosanna; De Angelis, Roberta; Fusco, Mario; Gatta, Gemma; Gennaro, Valerio; Giacomin, Adriano; Giorgi Rossi, Paolo; Mangone, Lucia; Mannino, Salvatore; Rossi, Silvia; Pierannunzio, Daniela; Tavilla, Andrea; Tognazzo, Sandro; Tumino, Rosario; Vicentini, Massimo; Vitale, Maria Francesca; Crocetti, Emanuele; Dal Maso, Luigino

2016-01-01

6 per 100,000 in Italy, in particular thyroid cancer (IR: 14 per 100,000).The exclusion of thyroid carcinoma from rare cancers reduces the proportion of them in Italy in 2010 to 22%. Differences in incidence across population can be due to the different distribution of risk factors (whether environmental, lifestyle, occupational, or genetic), heterogeneous diagnostic intensity activity, as well as different diagnostic capacity; moreover heterogeneity in accuracy of registration may determine some minor differences in the account of rare cancers. Rare cancers had worse prognosis than common cancers at 1, 3, and 5 years from diagnosis. Differences between rare and common cancers were small 1 year after diagnosis, but survival for rare cancers declined more markedly thereafter, consistent with the idea that treatments for rare cancers are less effective than those for common cancers. However, differences in stage at diagnosis could not be excluded, as 1- and 3-year RS for rare cancers was lower than the corresponding figures for common cancers. Moreover, rare cancers include many cancer entities with a bad prognosis (5-year RS <50%): cancer of head and neck, oesophagus, small intestine, ovary, brain, biliary tract, liver, pleura, multiple myeloma, acute myeloid and lymphatic leukaemia; in contrast, most common cancer cases are breast, prostate, and colorectal cancers, which have a good prognosis. The high prevalence observed for rare haematological diseases and rare tumours of the female genital system is due to their high incidence (the majority of haematological diseases are rare and gynaecological cancers added up to fairly high incidence rates) and relatively good prognosis. The low prevalence of rare epithelial tumours of the digestive system was due to the low survival rates of the majority of tumours included in this group (oesophagus, stomach, small intestine, pancreas, and liver), regardless of the high incidence rate of rare epithelial cancers of these sites

Metastasis of Lung Adenocarcinoma to the Gingiva: A Rare Case Report

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M. Rajini Kanth

2015-05-01

Full Text Available Metastatic tumors account for 1% of all oral malignancies. Metastasis to jaw bones is common, particularly in the mandible, rare in the oral soft tissues, and account for only 0.1% of oral malignancies. The majority of metastatic cases (70% reported in the literature have primary tumors located in the lung, breast, kidney, and colon. Metastasis is a biological complex process that involves detachment from the surrounding cells, regulation of cell motility, invasion, survival, proliferation, and evasion of the immune system. Clinical presentation of metastatic tumors is variable, which may create diagnostic dilemma or may lead to erroneous diagnosis. Metastatic tumors clinically mimic as dental infections. Metastasis to the oral soft tissue from lung cancer, especially gingiva is a rare condition. Metastasis to the gingiva can affect the oral function, speech, and nutrition. Most of the cases in the literature reported that lesion presented in oral soft tissues before the diagnosis of primary tumors. Here we report a case of 62-year-old male patient with metastasis from lung to the gingiva, where the metastasis was detected before primary tumor.

Cognitive and system factors contributing to diagnostic errors in radiology.

Science.gov (United States)

Lee, Cindy S; Nagy, Paul G; Weaver, Sallie J; Newman-Toker, David E

2013-09-01

In this article, we describe some of the cognitive and system-based sources of detection and interpretation errors in diagnostic radiology and discuss potential approaches to help reduce misdiagnoses. Every radiologist worries about missing a diagnosis or giving a false-positive reading. The retrospective error rate among radiologic examinations is approximately 30%, with real-time errors in daily radiology practice averaging 3-5%. Nearly 75% of all medical malpractice claims against radiologists are related to diagnostic errors. As medical reimbursement trends downward, radiologists attempt to compensate by undertaking additional responsibilities to increase productivity. The increased workload, rising quality expectations, cognitive biases, and poor system factors all contribute to diagnostic errors in radiology. Diagnostic errors are underrecognized and underappreciated in radiology practice. This is due to the inability to obtain reliable national estimates of the impact, the difficulty in evaluating effectiveness of potential interventions, and the poor response to systemwide solutions. Most of our clinical work is executed through type 1 processes to minimize cost, anxiety, and delay; however, type 1 processes are also vulnerable to errors. Instead of trying to completely eliminate cognitive shortcuts that serve us well most of the time, becoming aware of common biases and using metacognitive strategies to mitigate the effects have the potential to create sustainable improvement in diagnostic errors.

Reporting Diagnostic Scores in Educational Testing: Temptations, Pitfalls, and Some Solutions

Science.gov (United States)

Sinharay, Sandip; Puhan, Gautam; Haberman, Shelby J.

2010-01-01

Diagnostic scores are of increasing interest in educational testing due to their potential remedial and instructional benefit. Naturally, the number of educational tests that report diagnostic scores is on the rise, as are the number of research publications on such scores. This article provides a critical evaluation of diagnostic score reporting…

Low-energy scattering of excited helium atoms by rare gases

International Nuclear Information System (INIS)

Peach, G.

1978-01-01

The construction of semi-empirical model potentials for systems composed of helium in an excited state (Hestar) and a rare-gas atom (He or Ne) is described. The model of the atom-atom pair which has been adopted is one in which the excited electron is included explicitly, but the residual He + ion and the rare-gas atom are treated simply as cores which may be polarised. The results obtained are in satisfactory agreement with other calculations where they are available. (author)

The diagnostic potential of salivary protease activities in periodontal health and disease

NARCIS (Netherlands)

Thomadaki, K.; Bosch, J.A.; Oppenheim, F.G.; Helmerhorst, E.J.

2013-01-01

Periodontal disease is characterised by proteolytic processes involving enzymes that are released by host immune cells and periodontal bacteria. These enzymes, when detectable in whole saliva, may serve as valuable diagnostic markers for disease states and progression. Because the substrate

Hypohidrotic ectodermal dysplasia - Diagnostic aids and a report of 5 cases

Directory of Open Access Journals (Sweden)

Ramesh K

2010-03-01

Full Text Available Hypohidrotic ectodermal dysplasia (HED is a rare group of disorders affecting the hair, teeth, nails and sweat glands to a variable degree. There is a wide range of clinical presentation of HED. Missing teeth or abnormal tooth form may be the first indicator of the disorder. We present a case report of 5 cases of HED with their intraoral findings and their treatment plan. We also consider the various etiological factors and their clinical diagnostic aids.

The potential diagnostic value of serum microRNA signature in patients with pancreatic cancer

DEFF Research Database (Denmark)

Johansen, Julia S; Calatayud, Dan; Albieri, Vanna

2016-01-01

Biomarkers for early diagnosis of patients with pancreatic cancer (PC) are needed. Our aim was to identify panels of miRNAs in serum in combination with CA 19-9 for use in the diagnosis of PC. Four hundred seventeen patients with PC were included prospectively from Denmark (n = 306) and Germany (n...... than in controls. These miRNAs were tested in the training cohort, and four diagnostic panels were constructed that included 5 or 12 miRNAs (miR-16, -18a, -20a, -24, -25, -27a, -29c, -30a.5p, -191, -323.3p, -345 and -483.5p). Diagnostic accuracy of detecting PC in the training cohort was AUC (Index I 0.......90-0.96) and accuracy 0.88 (0.84-0.91)]. In conclusion, we identified four diagnostic panels based on 5 or 12 miRNAs in serum that could distinguish patients with PC from HS and CP....

Mining with Rare Cases

Science.gov (United States)

Weiss, Gary M.

Rare cases are often the most interesting cases. For example, in medical diagnosis one is typically interested in identifying relatively rare diseases, such as cancer, rather than more frequently occurring ones, such as the common cold. In this chapter we discuss the role of rare cases in Data Mining. Specific problems associated with mining rare cases are discussed, followed by a description of methods for addressing these problems.

A rare challenging case of co-existent craniopharyngioma, acromegaly and squamous cell lung cancer

Directory of Open Access Journals (Sweden)

Athanasios Fountas

2018-04-01

Full Text Available Co-existence of craniopharyngioma and acromegaly has been very rarely reported. A 65-year-old man presented with visual deterioration, fatigue and frontal headaches. Magnetic resonance imaging revealed a suprasellar heterogeneous, mainly cystic, 1.9 × 2 × 1.9 cm mass compressing the optic chiasm and expanding to the third ventricle; the findings were consistent with a craniopharyngioma. Pituitary hormone profile showed hypogonadotropic hypogonadism, mildly elevated prolactin, increased insulin-like growth factor 1 (IGF-1 and normal thyroid function and cortisol reserve. The patient had transsphenoidal surgery and pathology of the specimen was diagnostic of adamantinomatous craniopharyngioma. Post-operatively, he had diabetes insipidus, hypogonadotropic hypogonadism and adrenocorticotropic hormone and thyroid-stimulating hormone deficiency. Despite the hypopituitarism, his IGF-1 levels remained elevated and subsequent oral glucose tolerance test did not show complete growth hormone (GH suppression. Further review of the pre-operative imaging revealed a 12 × 4 mm pituitary adenoma close to the right carotid artery and no signs of pituitary hyperplasia. At that time, he was also diagnosed with squamous cell carcinoma of the left upper lung lobe finally managed with radical radiotherapy. Treatment with long-acting somatostatin analogue was initiated leading to biochemical control of the acromegaly. Latest imaging has shown no evidence of craniopharyngioma regrowth and stable adenoma. This is a unique case report of co-existence of craniopharyngioma, acromegaly and squamous lung cell carcinoma that highlights diagnostic and management challenges. Potential effects of the GH hypersecretion on the co-existent tumours of this patient are also briefly discussed.

Understanding the Pathological Basis of Neurological Diseases Through Diagnostic Platforms Based on Innovations in Biomedical Engineering: New Concepts and Theranostics Perspectives

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Laura Ganau

2018-02-01

Full Text Available The pace of advancement of genomics and proteomics together with the recent understanding of the molecular basis behind rare diseases could lead in the near future to significant advances in the diagnosing and treating of many pathological conditions. Innovative diagnostic platforms based on biomedical engineering (microdialysis and proteomics, biochip analysis, non-invasive impedance spectroscopy, etc. are introduced at a rapid speed in clinical practice: this article primarily aims to highlight how such platforms will advance our understanding of the pathological basis of neurological diseases. An overview of the clinical challenges and regulatory hurdles facing the introduction of such platforms in clinical practice, as well as their potential impact on patient management, will complement the discussion on foreseeable theranostic perspectives. Indeed, the techniques outlined in this article are revolutionizing how we (1 identify biomarkers that better define the diagnostic criteria of any given disease, (2 develop research models, and (3 exploit the externalities coming from innovative pharmacological protocols (i.e., those based on monoclonal antibodies, nanodrugs, etc. meant to tackle the molecular cascade so far identified.

The European Union Policy in the Field of Rare Diseases.

Science.gov (United States)

Moliner, Antoni Montserrat; Waligora, Jaroslaw

2017-01-01

Rare diseases, are defined by the European Union as life-threatening or chronically debilitating diseases with low prevalence (less than 5 per 10,000). The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a unique domain of very high European added-value.The legal instruments at the disposal of the European Union, in terms of the Article 168 of the Treaties, are very limited. However a combination of instruments using the research and the pharmaceutical legal basis and an intensive and creative use of funding from the Health Programmes has permitted to create a solid basis that Member States have considered enough to put rare diseases in a privileged position in the health agenda.The adoption of the Commission Communication, in November 2008, and of the Council Recommendation, in June 2009, and in 2011 the adoption of the Directive on Cross-border healthcare., have created an operational framework to act in the field of rare disease with European coordination in several areas (classification and codification, European Reference Networks, orphan medicinal products, the Commission expert group on rare diseases, etc.).Rare diseases is an area with high and practical potential for the European cooperation.

A rare ultrasound presentation of splenic lesion in a patient with disseminated Penicillium marneffei infection

International Nuclear Information System (INIS)

Tan, Rong; Xiao, Ying; Tang, Qi; Zhang, Ying

2013-01-01

Focal hypoechoic lesions in the spleen often represent malignant disease in patients with acquired immune deficiency syndrome (AIDS). However, some infection can produce similar images. The abdominal ultrasound imaging about disseminated Penicillium marneffei (P. marneffei) infection has been rarely described in the medical literature. This case report presents a 47-year-old Chinese man with newly diagnosed AIDS who was infected by P. marneffei. An isolated splenic lesion was detected by ultrasound scan before, and assessed following, diagnostic treatment.

Creutzfeldt-Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy.

Science.gov (United States)

Manix, Marc; Kalakoti, Piyush; Henry, Miriam; Thakur, Jai; Menger, Richard; Guthikonda, Bharat; Nanda, Anil

2015-11-01

Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative condition with a rapid disease course and a mortality rate of 100%. Several forms of the disease have been described, and the most common is the sporadic type. The most challenging aspect of this disease is its diagnosis-the gold standard for definitive diagnosis is considered to be histopathological confirmation-but newer tests are providing means for an antemortem diagnosis in ways less invasive than brain biopsy. Imaging studies, electroencephalography, and biomarkers are used in conjunction with the clinical picture to try to make the diagnosis of CJD without brain tissue samples, and all of these are reviewed in this article. The current diagnostic criteria are limited; test sensitivity and specificity varies with the genetics of the disease as well as the clinical stage. Physicians may be unsure of all diagnostic testing available, and may order outdated tests or prematurely request a brain biopsy when the diagnostic workup is incomplete. The authors review CJD, discuss the role of brain biopsy in this patient population, provide a diagnostic pathway for the patient presenting with rapidly progressive dementia, and propose newer diagnostic criteria.

Computational search for rare-earth free hard-magnetic materials

Science.gov (United States)

Flores Livas, José A.; Sharma, Sangeeta; Dewhurst, John Kay; Gross, Eberhard; MagMat Team

2015-03-01

It is difficult to over state the importance of hard magnets for human life in modern times; they enter every walk of our life from medical equipments (NMR) to transport (trains, planes, cars, etc) to electronic appliances (for house hold use to computers). All the known hard magnets in use today contain rare-earth elements, extraction of which is expensive and environmentally harmful. Rare-earths are also instrumental in tipping the balance of world economy as most of them are mined in limited specific parts of the world. Hence it would be ideal to have similar characteristics as a hard magnet but without or at least with reduced amount of rare-earths. This is the main goal of our work: search for rare-earth-free magnets. To do so we employ a combination of density functional theory and crystal prediction methods. The quantities which define a hard magnet are magnetic anisotropy energy (MAE) and saturation magnetization (Ms), which are the quantities we maximize in search for an ideal magnet. In my talk I will present details of the computation search algorithm together with some potential newly discovered rare-earth free hard magnet. J.A.F.L. acknowledge financial support from EU's 7th Framework Marie-Curie scholarship program within the ``ExMaMa'' Project (329386).

Diagnostics and operative treatment of retrorectal cysts - description of five cases

International Nuclear Information System (INIS)

Kolodziejczak, M.; Grochowicz, M.; Kosim, A.; Stefanski, R.; Sudol-Szopinska, I.

2005-01-01

Background. Retrorectal cysts (RC) are unusual lesions. Publications on RC are very rare and describe a few cases at most. Methods. Authors describe five patients with RC. The diagnostics of RC was based on the medical history of the patients and the basic diagnostic investigation was trans rectal ultrasonography. An operation to remove the cysts from perineal access was the treatment administered in these cases. Results. In three cases the histopathological examination showed cystis epidermalis. In another case a cyst epithelialized with ciliated epithelium was found. In the last case bone tissue, fatty tissue and fibrous tissue were depicted, all in the state of chronic inflammation. Conclusions. Per rectum digital exam is the basic examination decisive in making the diagnosis. TRUS should be employed as the diagnostic investigation in order to estimate precisely the size of a cyst and its proportion to the rectum wall. Retrorectal cystectomy in perineal access is an effective method of treatment of this disease. This article, likewise other research works, describes a small group of patients, therefore, its conclusions should be treated as preliminary ones. (author)

Rare features associated with Mobius syndrome: Report of two cases

Directory of Open Access Journals (Sweden)

Rumela Ghosh

2017-03-01

Full Text Available Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated. A thorough evaluation to identify the condition and establishing an adequate treatment plan is of utmost important in this condition. We are reporting clinical and radiographic features of Mobius syndrome in two cases along with unusual findings of limb and neck deformity.

Economic Modeling Considerations for Rare Diseases.

Science.gov (United States)

Pearson, Isobel; Rothwell, Ben; Olaye, Andrew; Knight, Christopher

2018-05-01

To identify challenges that affect the feasibility and rigor of economic models in rare diseases and strategies that manufacturers have employed in health technology assessment submissions to demonstrate the value of new orphan products that have limited study data. Targeted reviews of PubMed, the National Institute for Health and Care Excellence's (NICE's) Highly Specialised Technologies (HST), and the Scottish Medicines Consortium's (SMC's) ultra-orphan submissions were performed. A total of 19 PubMed studies, 3 published NICE HSTs, and 11 ultra-orphan SMC submissions were eligible for inclusion. In rare diseases, a number of different factors may affect the model's ability to comply with good practice recommendations. Many products for the treatment of rare diseases have an incomplete efficacy and safety profile at product launch. In addition, there is often limited available natural history and epidemiology data. Information on the direct and indirect cost burden of an orphan disease also may be limited, making it difficult to estimate the potential economic benefit of treatment. These challenges can prevent accurate estimation of a new product's benefits in relation to costs. Approaches that can address such challenges include using patient and/or clinician feedback to inform model assumptions; data from disease analogues; epidemiological techniques, such as matching-adjusted indirect comparison; and long-term data collection. Modeling in rare diseases is often challenging; however, a number of approaches are available to support the development of model structures and the collation of input parameters and to manage uncertainty. Copyright © 2018 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

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Marta Gigli

2016-07-01

Full Text Available Titin (TTN is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA that incorporate four distinct regions termed the Z-line, I-band, A-band, and M-line. Next-generation sequencing allows a large number of genes to be sequenced simultaneously and provides the opportunity to easily analyze giant genes such as TTN. Mutations in the TTN gene can cause cardiomyopathies, in particular dilated cardiomyopathy (DCM. DCM is the most common form of cardiomyopathy and it is characterized by systolic dysfunction and dilation of the left ventricle. TTN truncating variants have been described as the most common cause of DCM while the real impact of TTN missense variants in the pathogenesis of DCM is still unclear. In a recent population screening study, rare missense variants potentially pathogenic based on bioinformatic filtering represented only 12.6% of the several hundred rare TTN missense variants found, suggesting that missense variants are very common in TTN and frequently benign. The aim of this review is to understand the clinical role of TTN mutations in DCM and in other cardiomyopathies. Whereas TTN truncations are common in DCM, there is evidence that TTN truncations are rare in the HCM phenotype. Furthermore TTN mutations can also cause arrhythmogenic right ventricular cardiomyopathy (ARVC with distinct clinical features and outcomes. Finally, the identification of a rare missense variant in TTN cosegregating with the restrictive cardiomyopathy (RCM phenotype suggests that TTN is a novel gene in this disease. Clinical diagnostic testing is currently able to analyze over 100 cardiomyopathy genes, including TTN, however, the size and presence of extensive genetic variation in TTN presents clinical challenges in determining significant disease-causing mutations. This review discusses the current knowledge of TTN genetic variations in

Rare earth industries: Upstream business

International Nuclear Information System (INIS)

2011-01-01

Evidently, many factors contribute to the rush to invest in the unprecedented revival of rare earths. One major reason has to do with the rapidly growing world demand. The other reason relates to the attractive price of rare earths which is projected to stay strong in the coming years. This is because supply is predicted to have difficulty keeping pace with demand. Experts believe a major driver of global rare earths demand is the forecasted expansion in the green economy. Climate change is a major driver of the green economy. With climate change, there is concern that the uncontrolled emission of the greenhouse gases, especially carbon dioxide, can lead to catastrophic consequences for the world. This has been documented in countless studies and reports. Another important driver of the green economy is the growing shortfall in many resources. The world is now experiencing declines in key resources to meet a growing global demand. With more than 6 billion people now in the world and growing, the pressure exerted on global resources including energy, water and food is a major concern. Recent demand surge in China and India has dented the supply position of major world resources. The much quoted Stern Report from the UK has warned that, unless immediate steps are taken to reduce greenhouse gas emissions, it may be a costly exercise to undertake the corrections later. Since energy use, especially fossil fuels, is a major contributor to climate change, greener options are being sought. Add to that the fact that the fossil energy resources of the world are declining, the need to seek alternatives becomes even more urgent. One option is to change to renewable energy sources. These include such potentials as solar, wind and biomass. Rare earths have somehow become a critical feature of the technologies in such renewable. Another option is to improve the efficient use of energy in transport, buildings and all the other energy intensive industries. Again the technologies in

What is the DSM? Diagnostic manual, cultural icon, political battleground: an overview with suggestions for a critical research agenda

OpenAIRE

Greco, Monica

2016-01-01

The Diagnostic and Statistical Manual of Mental Disorders of the APA (known as the DSM) is a system for the classification of mental disorders that provides diagnostic criteria used by psychiatrists and experts in related fields. Although classification systems and standards are ubiquitous in social life, they are rarely conspicuous and almost never become an object of public debate. Yet the DSM has attained the status of a ‘cultural icon’ and has been an object of commentary and controversy ...

Determining habitat potential and surveying for nine rare plant species in south-central Utah

Science.gov (United States)

Deborah J. Clark; Christine M. Groebner

2001-01-01

In south-central Utah, lands within and adjacent to Capitol Reef National Park contain populations of nine rare plant species. In an effort to enhance the combined knowledge about these species, the Bureau of Land Management, the USDA Forest Service, and the National Park Service signed an Interagency Agreement and hired an interagency biologist and field crew to...

Cystosarcoma phylloides of the breast: a rare diagnosis. A case report and review of the literature.

Science.gov (United States)

Vergine, Massimo; Pasta, Vittorio; Redler, Adriano; Santucci, Elisabetta; Vasselli, Ilaria; Ballesio, Laura; Monti, Massimo

2012-01-01

Sarcoma of the breast is a rare condition, with one possible meaning of relapse ad metastastasize, and behaves biologically as a stromal tumor. Surgery is the first choise and mastectomy is the best procedure adopted in these tumors. The aim of our study was to assess diagnostic and treatment options for PT, based on a review of the literature and our experience with a case of breast sarcoma arising from a phyllodes tumor.

Oral Cancer Knowledge and Diagnostic Ability Among Dental Students.

Science.gov (United States)

Hassona, Y; Scully, C; Abu Tarboush, N; Baqain, Z; Ismail, F; Hawamdeh, S; Sawair, F

2017-09-01

The purpose of this study is to examine factors that influence the diagnostic ability of dental students with regards to oral cancer and oral potentially malignant disorders. Dental students at different levels of study were directly interviewed to examine their oral cancer knowledge and diagnostic ability using a validated and pre-tested survey instrument containing validated clinical images of oral cancer and oral potentially malignant disorders. An oral cancer knowledge scale (0 to 31) was generated from correct responses on oral cancer general knowledge, and a diagnostic ability scale (0 to 100) was generated from correct selections of suspicious oral lesions. Knowledge scores ranged from 0 to 27 (mean 10.1 ± 6.0); mean knowledge scores increased with year of study; 5th year students had the highest mean knowledge score (19.1 ± 4.0), while 1st year students had the lowest (5.6 ± 3.5). Diagnostic ability scores increased with year of study and ranged from 0 to 88.5 % (mean 41.8 % ± 15.6). The ability to recognize suspicious oral lesions was significantly correlated with knowledge about oral cancer and oral potentially malignant disorders (r = 0.28; P oral cancer education curricula; increasing students' contact with patients who have oral lesions including oral cancer will help to improve their future diagnostic ability and early detection practices.

Amiodarone-Induced Thyrotoxic Thyroiditis: A Diagnostic and Therapeutic Challenge

Directory of Open Access Journals (Sweden)

Umang Barvalia

2014-01-01

Full Text Available Amiodarone is an iodine-based, potent antiarrhythmic drug bearing a structural resemblance to thyroxine (T4. It is known to produce thyroid abnormalities ranging from abnormal thyroid function testing to overt hypothyroidism or hyperthyroidism. These adverse effects may occur in patients with or without preexisting thyroid disease. Amiodarone-induced thyrotoxicosis (AIT is a clinically recognized condition commonly due to iodine-induced excessive synthesis of thyroid, also known as type 1 AIT. In rare instances, AIT is caused by amiodarone-induced inflammation of thyroid tissue, resulting in release of preformed thyroid hormones and a hyperthyroid state, known as type 2 AIT. Distinguishing between the two states is important, as both conditions have different treatment implications; however, a mixed presentation is not uncommon, posing diagnostic and treatment challenges. We describe a case of a patient with amiodarone-induced type 2 hyperthyroidism and review the current literature on the best practices for diagnostic and treatment approaches.

Gingival enlargement unveiling sarcoidosis: Report of a rare case

Directory of Open Access Journals (Sweden)

Sabeeha Abbas Kadiwala

2013-01-01

Full Text Available Sarcoidosis is classified as an acquired systemic granulomatous disease. Because of the fact that sarcoidosis affects multiple tissues and organs, it is characterized by many potential signs and symptoms, as well as by the presence of non-caseating granulomas in the organs involved. Although oral sarcoidosis is relatively rare, it may however, present in the oral cavity. This report presents a rare case of sarcoidosis with the initial presenting symptom as severe generalized gingival enlargement. The gingival enlargement was treated by gingivectomy. After histopathological examination of gingival biopsy and certain special investigations, a diagnosis of sarcoidosis was made.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Science.gov (United States)

Hendriksz, Christian J; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; de Koning, Tom J; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Klünemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Then Bergh, Florian; Topçu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian; Kolb, Stefan A

2017-05-01

Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C. Patients in these at-risk groups ("clinical niches") have symptoms that are potentially related to NP-C, but go unrecognized due to other, more prevalent clinical features, and lack of awareness regarding underlying metabolic causes. Twelve potential clinical niches identified by clinical experts were evaluated based on a comprehensive, non-systematic review of literature published to date. Relevant publications were identified by targeted literature searches of EMBASE and PubMed using key search terms specific to each niche. Articles published in English or other European languages up to 2016 were included. Several niches were found to be relevant based on available data: movement disorders (early-onset ataxia and dystonia), organic psychosis, early-onset cholestasis/(hepato)splenomegaly, cases with relevant antenatal findings or fetal abnormalities, and patients affected by family history, consanguinity, and endogamy. Potentially relevant niches requiring further supportive data included: early-onset cognitive decline, frontotemporal dementia, parkinsonism, and chronic inflammatory CNS disease. There was relatively weak evidence to suggest amyotrophic lateral sclerosis or progressive supranuclear gaze palsy as potential niches. Several clinical niches have been identified that harbor patients at increased risk of NP-C.

Non-traumatic cortical subarachnoid haemorrhage: diagnostic work-up and aetiological background

Energy Technology Data Exchange (ETDEWEB)

Spitzer, C.; Kosinski, C.M. [University Hospital of RWTH Aachen, Department of Neurology, Aachen (Germany); Mull, M. [University Hospital of RWTH Aachen, Department of Neuroradiology, Aachen (Germany); Rohde, V. [University Hospital of RWTH Aachen, Department of Neurosurgery, Aachen (Germany)

2005-07-01

Only 15% of all subarachnoid haemorrhages (SAHs) are not of aneurysmal origin. Among those, circumscribed SAHs along the cortical convexity are rare and have only been described in singular case reports so far. Here, we present a collection of 12 cases of SAH along the convexity, of non-traumatic origin. Over a period of 10 years, 12 cases of circumscribed SAH along the convexity were identified at our clinic. The clinical presentations, neuroradiological SAH characteristics, further diagnostic work-up to identify the underlying aetiologies, the therapy and clinical outcome were analysed. The patients' chief complaints were unspecific cephalgia, focal or generalised seizures and focal neurological deficits. Typical signs of basal SAH, such as nuchal rigidity, thunderclap-headache or alteration of consciousness, were rare. Magnetic resonance imaging (MRI) and digital subtraction angiography (DSA) revealed different aetiologies, namely postpartal posterior encephalopathy (three), cerebral vasculitis (two), dural sinus thrombosis (two), cortical venous thrombosis (one), intracerebral abscesses (one) and cerebral cavernoma (one). Two cases remained unresolved. Treatment of the underlying disease and symptomatic medication led to good clinical outcome in almost all cases. On the basis of these findings, we demonstrate that the clinical presentation, localisation and aetiology of cortical SAH differ clearly from other SAHs. A diagnostic work-up with MRI and eventually DSA is essential. Mostly, the causative disease can be identified, and specific treatment allows a favourable outcome. (orig.)

High power microwave diagnostic for the fusion energy experiment ITER

DEFF Research Database (Denmark)

Korsholm, Søren Bang; Leipold, Frank; Goncalves, B.

2016-01-01

Microwave diagnostics will play an increasingly important role in burning plasma fusion energy experiments like ITER and beyond. The Collective Thomson Scattering (CTS) diagnostic to be installed at ITER is an example of such a diagnostic with great potential in present and future experiments....... The ITER CTS diagnostic will inject a 1 MW 60 GHz gyrotron beam into the ITER plasma and observe the scattering off fluctuations in the plasma — to monitor the dynamics of the fast ions generated in the fusion reactions....

Automation of diagnostic genetic testing: mutation detection by cyclic minisequencing.

Science.gov (United States)

Alagrund, Katariina; Orpana, Arto K

2014-01-01

The rising role of nucleic acid testing in clinical decision making is creating a need for efficient and automated diagnostic nucleic acid test platforms. Clinical use of nucleic acid testing sets demands for shorter turnaround times (TATs), lower production costs and robust, reliable methods that can easily adopt new test panels and is able to run rare tests in random access principle. Here we present a novel home-brew laboratory automation platform for diagnostic mutation testing. This platform is based on the cyclic minisequecing (cMS) and two color near-infrared (NIR) detection. Pipetting is automated using Tecan Freedom EVO pipetting robots and all assays are performed in 384-well micro plate format. The automation platform includes a data processing system, controlling all procedures, and automated patient result reporting to the hospital information system. We have found automated cMS a reliable, inexpensive and robust method for nucleic acid testing for a wide variety of diagnostic tests. The platform is currently in clinical use for over 80 mutations or polymorphisms. Additionally to tests performed from blood samples, the system performs also epigenetic test for the methylation of the MGMT gene promoter, and companion diagnostic tests for analysis of KRAS and BRAF gene mutations from formalin fixed and paraffin embedded tumor samples. Automation of genetic test reporting is found reliable and efficient decreasing the work load of academic personnel.

The diagnostic value of component-resolved diagnostics in peanut allergy in children attending a Regional Paediatric Allergology Clinic.

Science.gov (United States)

van Veen, Leonieke N; Heron, Michiel; Batstra, Manou; van Haard, Paul M M; de Groot, Hans

2016-06-02

To date, diagnosing food allergies in children still presents a diagnostic dilemma, leading to uncertainty concerning the definite diagnosis of peanut allergy, as well as to the need for strict diets and the potential need for adrenalin auto-injectors. This uncertainty in particular is thought to contribute to a lower quality of life. In the diagnostic process double-blind food challenges are considered the gold standard, but they are time-consuming as well as potentially hazardous. Other diagnostic tests have been extensively studied and among these component-resolved diagnostics appeared to present a promising alternative: Ara h2, a peanut storage protein in previous studies showed to have a significant predictive value. Sixty-two out of 72 children, with suspected peanut allergy were analyzed using serum specific IgE and/or skin prick tests and specific IgE to several components of peanut (Ara h 1, 2, 3, 6, 8, 9). Subsequently, double-blind food challenges were performed. The correlation between the various diagnostic tests and the overall outcome of the double-blind food challenges were studied, in particular the severity of the reaction and the eliciting dose. The double-blind provocation with peanut was positive in 33 children (53 %). There was no relationship between the eliciting dose and the severity of the reaction. A statistically significant relationship was found between the skin prick test, specific IgE directed to peanut, Ara h 1, Ara h 2 or Ara h 6, and the outcome of the food challenge test, in terms of positive or negative (P food challenge. This study shows that component-resolved diagnostics is not superior to specific IgE to peanut extract or to skin prick testing. At present, it cannot replace double-blind placebo-controlled food challenges for determination of the eliciting dose or the severity of the peanut allergy in our patient group.

[Monogenic and syndromic symptoms of morbid obesity. Rare but important].

Science.gov (United States)

Wiegand, S; Krude, H

2015-02-01

Monogenic and syndromic obesity are rare diseases with variable manifestation. Therefore diagnosis is difficult and often delayed. The purpose of this work was to develop a clinical diagnostic algorithm for earlier diagnosis. Available publications for clinical symptoms and molecular defects of monogenic and syndromic obesity cases were evaluated. Monogenic and syndromic obesity can be expected in cases with early manifestation before the age of 5 years and a BMI above 40 or above the 99th percentile. Syndromic cases are mostly associated with a low IQ and dwarfism. Monogenic cases are associated with additional endocrine defects. Measurement of serum leptin proves the treatable leptin deficiency. Sequencing of the melanocortin-4 receptor gene (MC4R) allows diagnosis of the most frequent monogenic form of obesity. Treatment with a melanocyte-stimulating hormone (MSH) analog can be expected in the future. Early treatment of children with Prader-Willi syndrome can prevent severe obesity. Because in some cases treatment is available, monogenic and syndromic obesity should be diagnosed early. Based on the disease symptoms, serum leptin, and MC4R sequencing, a diagnostic algorithm is proposed, which can be used to diagnose cases of morbid obesity.

Autoantibodies in a Three-Year-Old Girl with Visceral Leishmaniasis: A Potential Diagnostic Pitfall

Directory of Open Access Journals (Sweden)

Gholamreza Pouladfar

2016-01-01

Full Text Available Visceral leishmaniasis (VL, a life-threatening parasitic infection, is endemic in the Mediterranean region. Diagnosis of VL is based on epidemiologic, clinical, and laboratory findings. However, sometimes, clinical features and laboratory findings overlap with those of autoimmune diseases. In some cases, autoantibodies are detected in patients with VL and this could be a potential diagnostic pitfall. In this study, we have reported on a three-year-old girl from a VL-endemic area in Iran, who presented with prolonged fever and splenomegaly. Bone marrow examination, serologic tests, and the molecular PCR assay were performed; however, results were inconclusive. The levels of anti-double stranded DNA, cytoplasmic antineutrophil cytoplasmic autoantibody, and perinuclear antineutrophil cytoplasmic autoantibody were elevated and, at the end, splenic biopsy was performed. The splenic tissue PCR test detected the DNA of Leishmania infantum. The patient’s condition improved with anti-Leishmania therapy, and the autoantibodies disappeared within the following four months. Clinical presentations and laboratory findings of VL and autoimmune diseases may overlap in some patients.

Reducing Diagnostic Errors through Effective Communication: Harnessing the Power of Information Technology

Science.gov (United States)

Naik, Aanand Dinkar; Rao, Raghuram; Petersen, Laura Ann

2008-01-01

Diagnostic errors are poorly understood despite being a frequent cause of medical errors. Recent efforts have aimed to advance the "basic science" of diagnostic error prevention by tracing errors to their most basic origins. Although a refined theory of diagnostic error prevention will take years to formulate, we focus on communication breakdown, a major contributor to diagnostic errors and an increasingly recognized preventable factor in medical mishaps. We describe a comprehensive framework that integrates the potential sources of communication breakdowns within the diagnostic process and identifies vulnerable steps in the diagnostic process where various types of communication breakdowns can precipitate error. We then discuss potential information technology-based interventions that may have efficacy in preventing one or more forms of these breakdowns. These possible intervention strategies include using new technologies to enhance communication between health providers and health systems, improve patient involvement, and facilitate management of information in the medical record. PMID:18373151

Iliopsoas haematoma: a rare complication of warfarin therapy

International Nuclear Information System (INIS)

Ozkan, O.F.; Guner, A.; Cekic, A.B.; Reis, E.; Turan, T.

2012-01-01

Iliopsoas haematoma is a rare complication that occurs in patients receiving anticoagulant therapy. The clinical manifestation of iliopsoas haematoma is non-specific. It can mimic orthopaedic or neurological disorders, including paraesthesia or paresis of the thigh and leg due to compression of the nerve plexus. Among the many available diagnostic modalities, computed tomography is the most useful radiological method for diagnosis. Treatment approaches for iliopsoas haematoma include conservative therapy, surgical intervention, or transcatheter arterial embolisation. Conservative therapy consists of bed rest, restoration of circulating volume, and drug discontinuation for correcting underlying coagulopathy. Although a conservative approach is the first choice, transcatheter arterial embolisation and surgical intervention may be required in patients with hemodynamically unstable and active bleeding. The report described a case of iliopsoas haematoma due to anticoagulant therapy with paraesthesia in the left leg who was successfully treated by conservative approach. (author)

Rare earth octacyanomolybdates(4)

International Nuclear Information System (INIS)

Zubritskaya, D.I.; Sergeeva, A.N.; Pisak, Yu.V.

1980-01-01

Optimal conditions for synthesis of rare-earth octacyanomolybdates(4) of the Ln 4 [Mo(CN) 8 ] 3 xnH 2 O composition (where Ln is a rare-earth element, other than Pr, Pm, Lu, Tb) have been worked out. The synthesis has been accomplished by neutralization with octacianomolybdic acid with rare-earth carbonates. The composition and structure of the compounds synthesized have been studied by infrared-spectroscopy. It has been established that rare-earth octacyanomolybdates(4) form three isostructural groups

MicroRNA-4639 Is a Regulator of DJ-1 Expression and a Potential Early Diagnostic Marker for Parkinson’s Disease

Directory of Open Access Journals (Sweden)

Yimeng Chen

2017-07-01

Full Text Available Parkinson’s disease (PD is the second most common neurodegenerative disorder and has profound impacts on the daily lives of patients. However, there is a lack of effective biomarkers for early diagnosis, and the mechanisms of PD pathogenesis remain obscure. microRNAs (miRNAs are post-transcriptional gene regulators and can be easily detected in plasma, which suggests a promising role as diagnostic markers. Here, we aimed to explore a peripheral biomarker, which not only can be applied for early diagnosis of PD but also has the potential to be a therapeutic target. Through miRNA microarray screening and further validation in plasma from 169 sporadic PD patients, 170 healthy controls, and 60 essential tremor (ET patients, hsa-miR-4639-5p level was identified to be significantly up-regulated in PD patients. Also, it was able to discriminate between early PD patients (disease duration ≤2 years or Hoehn and Yahr stage 1–2.5 and healthy controls. Furthermore, hsa-miR-4639-5p was shown to negatively regulate DJ-1 (PARK7, a well-known PD-related gene, in the post-transcriptional level. Abnormal up-regulation of hsa-miR-4639-5p caused down-regulation of DJ-1 protein level, leading to severe oxidative stress and neuronal death. In conclusion, hsa-miR-4639-5p has the potential to be a peripheral diagnostic biomarker and therapeutic target for early PD.

The potential of high resolution melting analysis (hrma) to streamline, facilitate and enrich routine diagnostics in medical microbiology.

Science.gov (United States)

Ruskova, Lenka; Raclavsky, Vladislav

2011-09-01

Routine medical microbiology diagnostics relies on conventional cultivation followed by phenotypic techniques for identification of pathogenic bacteria and fungi. This is not only due to tradition and economy but also because it provides pure culture needed for antibiotic susceptibility testing. This review focuses on the potential of High Resolution Melting Analysis (HRMA) of double-stranded DNA for future routine medical microbiology. Search of MEDLINE database for publications showing the advantages of HRMA in routine medical microbiology for identification, strain typing and further characterization of pathogenic bacteria and fungi in particular. The results show increasing numbers of newly-developed and more tailor-made assays in this field. For microbiologists unfamiliar with technical aspects of HRMA, we also provide insight into the technique from the perspective of microbial characterization. We can anticipate that the routine availability of HRMA in medical microbiology laboratories will provide a strong stimulus to this field. This is already envisioned by the growing number of medical microbiology applications published recently. The speed, power, convenience and cost effectiveness of this technology virtually predestine that it will advance genetic characterization of microbes and streamline, facilitate and enrich diagnostics in routine medical microbiology without interfering with the proven advantages of conventional cultivation.

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).

Science.gov (United States)

Kuemmerle-Deschner, Jasmin B; Ozen, Seza; Tyrrell, Pascal N; Kone-Paut, Isabelle; Goldbach-Mansky, Raphaela; Lachmann, Helen; Blank, Norbert; Hoffman, Hal M; Weissbarth-Riedel, Elisabeth; Hugle, Boris; Kallinich, Tilmann; Gattorno, Marco; Gul, Ahmet; Ter Haar, Nienke; Oswald, Marlen; Dedeoglu, Fatma; Cantarini, Luca; Benseler, Susanne M

2017-06-01

Cryopyrin-associated periodic syndrome (CAPS) is a rare, heterogeneous disease entity associated with NLRP3 gene mutations and increased interleukin-1 (IL-1) secretion. Early diagnosis and rapid initiation of IL-1 inhibition prevent organ damage. The aim of the study was to develop and validate diagnostic criteria for CAPS. An innovative process was followed including interdisciplinary team building, item generation: review of CAPS registries, systematic literature review, expert surveys, consensus conferences for item refinement, item reduction and weighting using 1000Minds decision software. Resulting CAPS criteria were tested in large cohorts of CAPS cases and controls using correspondence analysis. Diagnostic models were explored using sensitivity analyses. The international team included 16 experts. Systematic literature and registry review identified 33 CAPS-typical items; the consensus conferences reduced these to 14. 1000Minds exercises ranked variables based on importance for the diagnosis. Correspondence analysis determined variables consistently associated with the diagnosis of CAPS using 284 cases and 837 controls. Seven variables were significantly associated with CAPS (pCAPS-typical symptoms: urticaria-like rash, cold-triggered episodes, sensorineural hearing loss, musculoskeletal symptoms, chronic aseptic meningitis and skeletal abnormalities. Sensitivity was 81%, specificity 94%. It performed well for all CAPS subtypes and regardless of NLRP3 mutation. The novel approach integrated traditional methods of evidence synthesis with expert consensus, web-based decision tools and innovative statistical methods and may serve as model for other rare diseases. These criteria will enable a rapid diagnosis for children and adults with CAPS. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Monitoring and diagnostic system of fission product transport and release in nuclear power plants

International Nuclear Information System (INIS)

Kodaira, H.; Kondo, S.; Togo, Y.

1983-01-01

A monitoring and diagnostic system (MADS) of fission product (FP) transport and release in nuclear power plants (NPPs) is proposed and the conceptual design for MADS is studied. A MADS can be described in the most general way as a computer-based information processing system which takes in plant data, processes it and displays the results to the NPP's operating crew. A major concern for MADS is, however, not to evaluate general plant dynamics, but to monitor the distribution of whole radioactive materials such as FP, and to diagnose the plant state in the view of FP transport during the NPP's lifetime. Several functions demanded of MADS are: (a) during normal operation, to certify the fuel integrity and the effectiveness of the purification systems, (b) in an unusual event, to identify the event and to monitor the amount of FP release with accuracy, and (c) in case of a rare occurrence, to estimate the maximum potential release

Molecular Beacons in Diagnostics

OpenAIRE

Tyagi, Sanjay; Kramer, Fred Russell

2012-01-01

Recent technical advances have begun to realize the potential of molecular beacons to test for diverse infections in clinical diagnostic laboratories. These include the ability to test for, and quantify, multiple pathogens in the same clinical sample, and to detect antibiotic resistant strains within hours. The design principles of molecular beacons have also spawned a variety of allied technologies.

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Science.gov (United States)

Ellingford, Jamie M; Barton, Stephanie; Bhaskar, Sanjeev; Williams, Simon G; Sergouniotis, Panagiotis I; O'Sullivan, James; Lamb, Janine A; Perveen, Rahat; Hall, Georgina; Newman, William G; Bishop, Paul N; Roberts, Stephen A; Leach, Rick; Tearle, Rick; Bayliss, Stuart; Ramsden, Simon C; Nemeth, Andrea H; Black, Graeme C M

2016-05-01

To compare the efficacy of whole genome sequencing (WGS) with targeted next-generation sequencing (NGS) in the diagnosis of inherited retinal disease (IRD). Case series. A total of 562 patients diagnosed with IRD. We performed a direct comparative analysis of current molecular diagnostics with WGS. We retrospectively reviewed the findings from a diagnostic NGS DNA test for 562 patients with IRD. A subset of 46 of 562 patients (encompassing potential clinical outcomes of diagnostic analysis) also underwent WGS, and we compared mutation detection rates and molecular diagnostic yields. In addition, we compared the sensitivity and specificity of the 2 techniques to identify known single nucleotide variants (SNVs) using 6 control samples with publically available genotype data. Diagnostic yield of genomic testing. Across known disease-causing genes, targeted NGS and WGS achieved similar levels of sensitivity and specificity for SNV detection. However, WGS also identified 14 clinically relevant genetic variants through WGS that had not been identified by NGS diagnostic testing for the 46 individuals with IRD. These variants included large deletions and variants in noncoding regions of the genome. Identification of these variants confirmed a molecular diagnosis of IRD for 11 of the 33 individuals referred for WGS who had not obtained a molecular diagnosis through targeted NGS testing. Weighted estimates, accounting for population structure, suggest that WGS methods could result in an overall 29% (95% confidence interval, 15-45) uplift in diagnostic yield. We show that WGS methods can detect disease-causing genetic variants missed by current NGS diagnostic methodologies for IRD and thereby demonstrate the clinical utility and additional value of WGS. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Diagnostics

DEFF Research Database (Denmark)

Donné, A.J.H.; Costley, A.E.; Barnsley, R.

2007-01-01

of the measurements—time and spatial resolutions, etc—will in some cases be more stringent. Many of the measurements will be used in the real time control of the plasma driving a requirement for very high reliability in the systems (diagnostics) that provide the measurements. The implementation of diagnostic systems...... on ITER is a substantial challenge. Because of the harsh environment (high levels of neutron and gamma fluxes, neutron heating, particle bombardment) diagnostic system selection and design has to cope with a range of phenomena not previously encountered in diagnostic design. Extensive design and R......&D is needed to prepare the systems. In some cases the environmental difficulties are so severe that new diagnostic techniques are required. The starting point in the development of diagnostics for ITER is to define the measurement requirements and develop their justification. It is necessary to include all...

Folic acid modified gelatine coated quantum dots as potential reagents for in vitro cancer diagnostics

LENUS (Irish Health Repository)

Gerard, Valerie A

2011-11-10

Abstract Background Gelatine coating was previously shown to effectively reduce the cytotoxicity of CdTe Quantum Dots (QDs) which was a first step towards utilising them for biomedical applications. To be useful they also need to be target-specific which can be achieved by conjugating them with Folic Acid (FA). Results The modification of QDs with FA via an original "one-pot" synthetic route was proved successful by a range of characterisation techniques including UV-visible absorption spectroscopy, Photoluminescence (PL) emission spectroscopy, fluorescence life-time measurements, Transmission Electron Microscopy (TEM) and Dynamic Light Scattering (DLS). The resulting nanocomposites were tested in Caco-2 cell cultures which over-express FA receptors. The presence of FA on the surface of QDs significantly improved the uptake by targeted cells. Conclusions The modification with folic acid enabled to achieve a significant cellular uptake and cytotoxicity towards a selected cancer cell lines (Caco-2) of gelatine-coated TGA-CdTe quantum dots, which demonstrated good potential for in vitro cancer diagnostics.

Unusual presentation and inconlusive biopsy render fibroadenoma in two young females a diagnostic dilemma

Directory of Open Access Journals (Sweden)

D Meerkotter

2009-08-01

Full Text Available Two young non-lactating females presented with acutely painful breast masses. Sonographic features showed mixed echogenic masses. Core biopsy was non-diagnostic in both and surgical excision revealed infarcted fibroadenomas. Although fibroadenomas are common, they do not commonly infarct and only rarely in non-lactating and non-pregnant females. These two cases highlight the clinical and imaging characteristics of this important differential diagnosis.

Diagnostic characteristics of sinonasal organizing hematomas: avoiding misdiagnosis.

Science.gov (United States)

Wu, Arthur W; Ting, Jonathan Y; Borgie, Roderick C; Busaba, Nicolas Y; Sadow, Peter M; Juliano, Amy F; Gray, Stacey T; Holbrook, Eric H

2013-07-01

Organizing hematomas of the paranasal sinuses are diagnostic dilemmas clinically and radiographically, mimicking benign or malignant neoplastic processes and causing patients and clinicians undue worry regarding these diagnoses. Diagnostic criteria for correctly identifying these lesions are not well known. A retrospective case series of 7 patients with sinonasal organizing hematoma was studied. Radiographic imaging, clinical characteristics, and pathology were reviewed for new insights. Three patients presented with a primary complaint of epistaxis, 4 had masses visible on nasal endoscopy, and 2 had vascular malformations or small hemangiomas adjacent to the mass found on final pathology. Biopsy of these masses were consistently nondiagnostic prior to complete resection. The most diagnostic findings were "shells" of T2 hypointensity on magnetic resonance imaging (MRI) surrounding the lobules of each of the masses. These correspond to rims of fibrosis at the periphery of the lobules on pathology. Areas of fresh hemorrhage are located at the center of these lobules. Sinonasal organizing hematomas are rare lesions of the paranasal sinuses whose clinical characteristics lead to misdiagnoses of benign or malignant neoplasms. Endoscopy, preoperative biopsy, and computed tomography (CT) imaging do not lend helpful information in differentiating these lesions from more worrisome neoplastic processes. However, MRI can lead to positive diagnosis by recognizing the distinct outer rims of T2 hypointensity typically seen in these lesions. © 2013 ARS-AAOA, LLC.

Rare B decays, rare τ decays, and grand unification

International Nuclear Information System (INIS)

Sher, M.; Yuan, Y.

1991-01-01

In multi-Higgs-boson extensions of the standard model, tree-level flavor-changing neutral currents exist naturally, unless suppressed by some symmetry. For a given rate, the exchanged scalar or pseudoscalar mass is very sensitive to the flavor-changing coupling between the first two generations. Since the Yukawa couplings of the first two generations are unknown and certainly very small, bounds which rely on some assumed value of this flavor-changing coupling are quite dubious. One might expect the size (and reliability) of the Yukawa couplings involving the third generation to be greater. In this paper, we consider processes involving τ's and B's, and determine the bounds on the flavor-changing couplings which involve third-generation fields. The strongest bound in the quark sector comes from B-bar B mixing and in the lepton sector, surprisingly, from μ→eγ. It is then noted that the flavor-changing couplings in the quark sector are related to those in the lepton sector in many grand unified theories, and one can ask whether an analysis of rare τ decays or rare B decays will provide the strongest constraints. We show that rare B decays provide the strongest bounds, and that no useful information can be obtained from rare τ decays. It is also noted that the most promising decay modes are B→Kμτ and B s →μτ, and we urge experimenters to look for rare decay modes of the B in which a τ is in the final state

Rare particles

International Nuclear Information System (INIS)

Kutschera, W.

1984-01-01

The use of Accelerator Mass Spectrometry (AMS) to search for hypothetical particles and known particles of rare processes is discussed. The hypothetical particles considered include fractionally charged particles, anomalously heavy isotopes, and superheavy elements. The known particles produced in rare processes discussed include doubly-charged negative ions, counting neutrino-produced atoms in detectors for solar neutrino detection, and the spontaneous emission of 14 C from 223 Ra. 35 references

EDP in X-ray diagnostics

International Nuclear Information System (INIS)

Maurer, H.J.

1987-01-01

The author highlights the potential use of EDP in the organizational management of X-ray diagnostics ranging from scientific-administrative application to the filing of films in archives, and to extensive automation of activities exemplified by Rados with its automated jobs, or by DVI. (orig./HP) [de

Potentially toxic elements and rare earth elements in plants from the lake Kalimantsi bank (NE Republic of Macedonia)

International Nuclear Information System (INIS)

Vrhovnik, Petra; Doloenets, Matej

2017-01-01

Potentially toxic elements (PTE) and rare earth elements (REE) are often increased in the environment, especially nearby active or abandoned mines . While NE Macedonia is very rich with metal ore bodies also elevated pollution is expected in the surrounding ecosystems. NE part of the country is also very important agricultural area where several food crops are being produced and consequently water from local lakes and rivers is being used for irrigation. In present paper we have focused on different plant species growing on the Lake Kalimantsi bank. All plant species were analyzed for PTE and REE. Results revealed that the PTE s (Cr, Cu, Pb, Zn, Ni, As and Cd) in the studied plant species show great enhancement in all samples and also exceed the recommended and allowable limits. Meanwhile REE s reflect a very similar range among all samples. Generally, all REE s were in the safe range, according to currently known regulations. (author)

Rare symbionts may contribute to the resilience of coral–algal assemblages

KAUST Repository

Ziegler, Maren

2017-12-01

The association between corals and photosynthetic dinoflagellates (Symbiodinium spp.) is the key to the success of reef ecosystems in highly oligotrophic environments, but it is also their Achilles‘ heel due to its vulnerability to local stressors and the effects of climate change. Research during the last two decades has shaped a view that coral host–Symbiodinium pairings are diverse, but largely exclusive. Deep sequencing has now revealed the existence of a rare diversity of cryptic Symbiodinium assemblages within the coral holobiont, in addition to one or a few abundant algal members. While the contribution of the most abundant resident Symbiodinium species to coral physiology is widely recognized, the significance of the rare and low abundant background Symbiodinium remains a matter of debate. In this study, we assessed how coral–Symbiodinium communities assemble and how rare and abundant components together constitute the Symbiodinium community by analyzing 892 coral samples comprising >110 000 unique Symbiodinium ITS2 marker gene sequences. Using network modeling, we show that host–Symbiodinium communities assemble in non-random ‘clusters‘ of abundant and rare symbionts. Symbiodinium community structure follows the same principles as bacterial communities, for which the functional significance of rare members (the ‘rare bacterial biosphere’) has long been recognized. Importantly, the inclusion of rare Symbiodinium taxa in robustness analyses revealed a significant contribution to the stability of the host–symbiont community overall. As such, it highlights the potential functions rare symbionts may provide to environmental resilience of the coral holobiont.

A rare case report of grade III gingival enlargement associated with chronic periodontitis: Comparison of two treatment techniques.

Science.gov (United States)

Pant, Vandana A; Pandey, Suraj

2015-01-01

Idiopathic gingival enlargement (GE) is a rare entity characterized by massive enlargement of the gingiva. It may be associated with other diseases/conditions characterizing a syndrome, but rarely documented in literature occurring along with chronic periodontitis. This case report describes a rare case of long standing massive GE in a systemically healthy, nonsyndromic young female involving both the arches, thereby posing a diagnostic dilemma. Furthermore, in this case, we compared two surgical approaches, that is, scalpel and electrosurgery for the convenience as well as the postoperative comfort of the patient. Quadrants 1 and 3 were treated by ledge and wedge technique using scalpel and blade while quadrants 2 and 4 were treated by electrosurgery. The patient was followed postoperatively up to 1-year. The massive GE subsided without recurrence and patient was completely satisfied with the treatment, though better compliance was observed at the site treated by conventional scalpel and blade technique.

Rare earths as a future resource

International Nuclear Information System (INIS)

Cornell, D.H.

1988-01-01

The fourteen rare earth or lanthanide elements have recently emerged as an important natural resource because of the rapidly growing demand in the electronic, chemical and metallurgical industries. The Symposium on rare earth elements as a future resource presented a multidisciplinary review of rare earth chemistry, geology, beneficiation, industrial applications and marketing. Papers by experts in many fields were presented on the following topics: chemical properties of the rare earth elements; the analysis of rare earth elements and minerals; beneficiation and extraction of rare earth elements; economic geochemistry and mineralogy of rare earths; present industrial uses of rare earth elements; the role of rare earth elements in high-temperature superconductors; the technical application of high-temperature superconductors; supply and demand for rare earth products - now and in the future, and the geology of rare earth deposits

Reverse iontophoresis of urea in health and chronic kidney disease: a potential diagnostic and monitoring tool?

Science.gov (United States)

Ebah, Leonard M; Read, Ian; Sayce, Andrew; Morgan, Jane; Chaloner, Christopher; Brenchley, Paul; Mitra, Sandip

2012-01-01

Background Patients with chronic kidney disease (CKD) need regular monitoring, usually by blood urea and creatinine measurements, needing venepuncture, frequent attendances and a healthcare professional, with significant inconvenience. Noninvasive monitoring will potentially simplify and improve monitoring. We tested the potential of transdermal reverse iontophoresis of urea in patients with CKD and healthy controls. Methods Using a MIC 2® Iontophoresis Controller, reverse iontophoresis was applied on the forearm of five healthy subjects (controls) and 18 patients with CKD for 3–5 h. Urea extracted at the cathode was measured and compared with plasma urea. Results Reverse iontophoresis at 250 μA was entirely safe for the duration. Cathodal buffer urea linearly correlated with plasma urea after 2 h (r = 0·82, P urea (y) from cathodal urea after 2 and 3 h, respectively. Cathodal urea concentration in controls was significantly lower than in patients with CKD after a minimum current application of 2 h (P urea cut-off of 30 μM gave a sensitivity of 83·3% and positive predictive value of 87% CKD. During haemodialysis, the fall in cathodal urea was able to track that of blood urea. Conclusion Reverse iontophoresis is safe, can potentially discriminate patients with CKD and healthy subjects and is able to track blood urea changes on dialysis. Further development of the technology for routine use can lead to an exciting opportunity for its use in diagnostics and monitoring. PMID:22409780

A rare metastasis from a rare brain tumour

DEFF Research Database (Denmark)

Aabenhus, Kristine; Hahn, Christoffer Holst

2014-01-01

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

Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.

Science.gov (United States)

Douzgou, Sofia; Pollalis, Yiannis A; Vozikis, Athanassios; Patrinos, George P; Clayton-Smith, Jill

2016-01-01

The big-data revolution is creating a challenge for the provision of services in the health sector to keep pace with the expectations of the general population. Utilization of crowdsourcing can impact positively on the quality, cost and speed of healthcare by involving large sections of professionals and the public and creating novel science within an ethical framework. In 2007, the DYSCERNE project was funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (submitting nodes), in 26 different European countries. DYSCERNE utilized the process of crowdsourcing international expertise for the clinical diagnosis of very rare genetic syndromes of multiple congenital anomalies. This is the first reported account of collaborative crowd sourcing in dysmorphology, as part of a clinical genetics service. © 2015 S. Karger AG, Basel.

Contemporary management of lymph node metastases from an unknown primary to the neck : I. A review of diagnostic approaches

NARCIS (Netherlands)

Strojan, Primoz; Ferlito, Alfio; Medina, Jesus E.; Woolgar, Julia A.; Rinaldo, Alessandra; Robbins, K. Thomas; Fagan, Johannes J.; Mendenhall, William M.; Paleri, Vinidh; Silver, Carl E.; Olsen, Kerry D.; Corry, June; Suarez, Carlos; Rodrigo, Juan P.; Langendijk, Johannes A.; Devaney, Kenneth O.; Kowalski, Luiz P.; Hartl, Dana M.; Haigentz, Missak; Werner, Jochen A.; Pellitteri, Phillip K.; de Bree, Remco; Wolf, Gregory T.; Takes, Robert P.; Genden, Eric M.; Hinni, Michael L.; Mondin, Vanni; Shaha, Ashok R.; Barnes, Leon

In an era of advanced diagnostics, metastasis to cervical lymph nodes from an occult primary tumor is a rare clinical entity and accounts for approximately 3% of head and neck malignancies. Histologically, two thirds of cases are squamous cell carcinomas (SCCs), with other tissue types less common

Contemporary management of lymph node metastases from an unknown primary to the neck: I. A review of diagnostic approaches

NARCIS (Netherlands)

Strojan, P.; Ferlito, A.; Medina, J.E.; Woolgar, J.A.; Rinaldo, A.; Robbins, K.T.; Fagan, J.J.; Mendenhall, W.M.; Paleri, V.; Silver, C.E.; Olsen, K.D.; Corry, J.; Suarez, C.; Rodrigo, J.P.; Langendijk, J.A.; Devaney, K.O.; Kowalski, L.P.; Hartl, D.M.; Haigentz Jr., M.; Werner, J.A.; Pellitteri, P.K.; Bree, R. de; Wolf, G.T.; Takes, R.P.; Genden, E.M.; Hinni, M.L.; Mondin, V.; Shaha, A.R.; Barnes, L.

2013-01-01

In an era of advanced diagnostics, metastasis to cervical lymph nodes from an occult primary tumor is a rare clinical entity and accounts for approximately 3% of head and neck malignancies. Histologically, two thirds of cases are squamous cell carcinomas (SCCs), with other tissue types less common

Gastric Volvulus and Wandering Spleen: A Rare Surgical Emergency

Directory of Open Access Journals (Sweden)

Georgios Lianos

2013-01-01

Full Text Available Gastric volvulus is a rare but potentially life-threatening clinical entity due to possible gastric necrosis. A wandering spleen may also be associated with gastric volvulus. Patients presenting with the triad epigastralgia, vomiting followed by retching, and difficulty or inability to pass a nasogastric tube into the stomach are likely to have gastric volvulus. The operating surgeon should include this rare entity in the differential diagnosis when dealing with a patient with such a clinical profile. Herein, we present a case of gastric volvulus associated with a wandering spleen in a 28-year-old Caucasian woman and we provide a brief review of the literature on this issue.

Product qualification: a barrier to point-of-care microfluidic-based diagnostics?

Science.gov (United States)

Tantra, Ratna; van Heeren, Henne

2013-06-21

One of the most exciting applications of microfluidics-based diagnostics is its potential use in next generation point-of-care (POC) devices. Many prototypes are already in existence, but, as of yet, few have achieved commercialisation. In this article, we consider the issue surrounding product qualification as a potential barrier to market success. The study discusses, in the context of POC microfluidics-based diagnostics, what the generic issues are and potential solutions. Our findings underline the need for a community-based effort that is necessary to speed up the product qualification process.

Autoimmune retinopathy associated with systemic lupus erythematosus: A diagnostic dilemma

Directory of Open Access Journals (Sweden)

Wadakarn Wuthisiri

2017-01-01

Full Text Available Visual loss in systemic lupus erythematosus (SLE due to autoimmune retinopathy (AIR is rare and easily misdiagnosed as hydroxychloroquine retinopathy. We report the rare clinical presentation of severe visual loss in a patient with SLE due to nonparaneoplastic AIR as differentiated from hydroxychloroquine toxicity. A 70-year-old female diagnosed and treated for lupus for 17 years and had been taking hydroxychloroquine for 15 years. Over the past 2 years, she developed progressive peripheral visual loss oculus uterque which rapidly advanced in the latter 6 months. Hydroxychloroquine toxicity was initially suspected, but diagnostic testing revealed a retinal degeneration. Antiretinal autoantibody testing using Western blot analysis revealed autoantibodies against 44-kDa, 46-kDa (anti-enolase, and 68-kDa proteins. Visual acuity improved in the first 6 months of treatment with mycophenolate mofetil. Our case suggests that AIR should be considered in the differential diagnosis of rapid, severe visual loss in patients with hydroxychloroquine treatment.

Rare earth germanates

International Nuclear Information System (INIS)

Bondar', I.A.; Vinogradova, N.V.; Dem'yanets, L.N.

1983-01-01

From the viewpoint of structural chemistry and general regularities controlling formation reactions of compounds and phases in melts, solid and gaseous states, recent achievements in the chemistry of rare earth germanates are generalized. Methods of synthesizing germanates, systems on the base of germanium oxides and rare earths are considered. The data on crystallochemical characteristics are tabulated. Individual compounds of scandium germanate are also characterized. Processes of germanate formation using the data of IR-spectroscopy, X-ray phase analysis are studied. The structure and morphotropic series of rare earth germanates and silicates are determined. Fields of their present and possible future application are considered

Cranial dural arteriovenous fistula as a rare cause of tinnitus – case report

International Nuclear Information System (INIS)

Kuśmierska, Małgorzata; Gać, Paweł; Nahorecki, Artur; Szuba, Andrzej; JaŸwiec, Przemysław

2013-01-01

Tinnitus, occurring at least once in a lifetime in about 10–20% of the population, is an important clinical problem with complex etiology. Rare causes of tinnitus include cranial dural arteriovenous fistulas (DAVFs), which are usually small lesions consisting of abnormal connections between branches of dural arteries and venous sinuses or veins. Authors present a case of a 44-year-old woman with persistent, unilateral, treatment-resistant pulsatile tinnitus caused by a small dural arteriovenous fistula revealed in computed tomography angiography. Computed tomography angiography is a useful diagnostic method that in some cases allows for establishing the cause of unilateral, pulsatile tinnitus

Cranial dural arteriovenous fistula as a rare cause of tinnitus – case report

Energy Technology Data Exchange (ETDEWEB)

Kuśmierska, Małgorzata; Gać, Paweł [Department of Medical Radiology and Imaging Diagnostics, 4th Military Clinical Hospital, Wrocław (Poland); Nahorecki, Artur [Department of Internal Diseases, 4th Military Clinical Hospital, Wrocław (Poland); Szuba, Andrzej [Department of Internal Diseases, 4th Military Clinical Hospital, Wrocław (Poland); Medical University, Wrocław (Poland); JaŸwiec, Przemysław [Department of Medical Radiology and Imaging Diagnostics, 4th Military Clinical Hospital, Wrocław (Poland)

2013-07-01

Tinnitus, occurring at least once in a lifetime in about 10–20% of the population, is an important clinical problem with complex etiology. Rare causes of tinnitus include cranial dural arteriovenous fistulas (DAVFs), which are usually small lesions consisting of abnormal connections between branches of dural arteries and venous sinuses or veins. Authors present a case of a 44-year-old woman with persistent, unilateral, treatment-resistant pulsatile tinnitus caused by a small dural arteriovenous fistula revealed in computed tomography angiography. Computed tomography angiography is a useful diagnostic method that in some cases allows for establishing the cause of unilateral, pulsatile tinnitus.

Semimembranosus muscle herniation: a rare case with emphasis on muscle biomechanics

Energy Technology Data Exchange (ETDEWEB)

Naffaa, Lena [American University of Beirut, Department of Diagnostic Radiology, P.O. Box 11-0236, Riad El-Solh, Beirut (Lebanon); Moukaddam, Hicham [Saint Rita Medical Center, Lima, OH (United States); Samim, Mohammad [New York University, Department of Radiology, Hospital for Joint Disease, New York, NY (United States); Lemieux, Aaron [University of California, San Diego School of Medicine, La Jolla, CA (United States); Smitaman, Edward [University of California, San Diego, Teleradiology and Education Center, San Diego, CA (United States)

2017-03-15

Muscle herniations are rare and most reported cases involve muscles of the lower leg. We use a case of muscle herniation involving the semimembranosus muscle, presenting as a painful mass in an adolescent male after an unspecified American football injury, to highlight a simple concept of muscle biomechanics as it pertains to muscle hernia(s): decreased traction upon muscle fibers can increase conspicuity of muscle herniation(s) - this allows a better understanding of the apt provocative maneuvers to employ, during dynamic ultrasound or magnetic resonance imaging, in order to maximize diagnostic yield and, thereby, limit patient morbidity related to any muscle herniation. Our patient subsequently underwent successful decompressive fasciotomy and has since returned to his normal daily activities. (orig.)

Semimembranosus muscle herniation: a rare case with emphasis on muscle biomechanics

International Nuclear Information System (INIS)

Naffaa, Lena; Moukaddam, Hicham; Samim, Mohammad; Lemieux, Aaron; Smitaman, Edward

2017-01-01

Muscle herniations are rare and most reported cases involve muscles of the lower leg. We use a case of muscle herniation involving the semimembranosus muscle, presenting as a painful mass in an adolescent male after an unspecified American football injury, to highlight a simple concept of muscle biomechanics as it pertains to muscle hernia(s): decreased traction upon muscle fibers can increase conspicuity of muscle herniation(s) - this allows a better understanding of the apt provocative maneuvers to employ, during dynamic ultrasound or magnetic resonance imaging, in order to maximize diagnostic yield and, thereby, limit patient morbidity related to any muscle herniation. Our patient subsequently underwent successful decompressive fasciotomy and has since returned to his normal daily activities. (orig.)

Feature diagnosticity and task context shape activity in human scene-selective cortex.

Science.gov (United States)

Lowe, Matthew X; Gallivan, Jason P; Ferber, Susanne; Cant, Jonathan S

2016-01-15

Scenes are constructed from multiple visual features, yet previous research investigating scene processing has often focused on the contributions of single features in isolation. In the real world, features rarely exist independently of one another and likely converge to inform scene identity in unique ways. Here, we utilize fMRI and pattern classification techniques to examine the interactions between task context (i.e., attend to diagnostic global scene features; texture or layout) and high-level scene attributes (content and spatial boundary) to test the novel hypothesis that scene-selective cortex represents multiple visual features, the importance of which varies according to their diagnostic relevance across scene categories and task demands. Our results show for the first time that scene representations are driven by interactions between multiple visual features and high-level scene attributes. Specifically, univariate analysis of scene-selective cortex revealed that task context and feature diagnosticity shape activity differentially across scene categories. Examination using multivariate decoding methods revealed results consistent with univariate findings, but also evidence for an interaction between high-level scene attributes and diagnostic visual features within scene categories. Critically, these findings suggest visual feature representations are not distributed uniformly across scene categories but are shaped by task context and feature diagnosticity. Thus, we propose that scene-selective cortex constructs a flexible representation of the environment by integrating multiple diagnostically relevant visual features, the nature of which varies according to the particular scene being perceived and the goals of the observer. Copyright © 2015 Elsevier Inc. All rights reserved.

Preliminary Evidence on the Diagnostic and Molecular Role of Circulating Soluble EGFR in Non-Small Cell Lung Cancer

Directory of Open Access Journals (Sweden)

Filippo Lococo

2015-08-01

Full Text Available Assessment of biological diagnostic factors providing clinically-relevant information to guide physician decision-making are still needed for diseases with poor outcomes, such as non-small cell lung cancer (NSCLC. Epidermal growth factor receptor (EGFR is a promising molecule in the clinical management of NSCLC. While the EGFR transmembrane form has been extensively investigated in large clinical trials, the soluble, circulating EGFR isoform (sEGFR, which may have a potential clinical use, has rarely been considered. This study investigates the use of sEGFR as a potential diagnostic biomarker for NSCLC and also characterizes the biological function of sEGFR to clarify the molecular mechanisms involved in the course of action of this protein. Plasma sEGFR levels from a heterogeneous cohort of 37 non-advanced NSCLC patients and 54 healthy subjects were analyzed by using an enzyme-linked immunosorbent assay. The biological function of sEGFR was analyzed in vitro using NSCLC cell lines, investigating effects on cell proliferation and migration. We found that plasma sEGFR was significantly decreased in the NSCLC patient group as compared to the control group (median value: 48.6 vs. 55.6 ng/mL respectively; p = 0.0002. Moreover, we demonstrated that sEGFR inhibits growth and migration of NSCLC cells in vitro through molecular mechanisms that included perturbation of EGF/EGFR cell signaling and holoreceptor internalization. These data show that sEGFR is a potential circulating biomarker with a physiological protective role, providing a first approach to the functional role of the soluble isoform of EGFR. However, the impact of these data on daily clinical practice needs to be further investigated in larger prospective studies.

Preliminary Evidence on the Diagnostic and Molecular Role of Circulating Soluble EGFR in Non-Small Cell Lung Cancer

Science.gov (United States)

Lococo, Filippo; Paci, Massimiliano; Rapicetta, Cristian; Rossi, Teresa; Sancisi, Valentina; Braglia, Luca; Cavuto, Silvio; Bisagni, Alessandra; Bongarzone, Italia; Noonan, Douglas M.; Albini, Adriana; Maramotti, Sally

2015-01-01

Assessment of biological diagnostic factors providing clinically-relevant information to guide physician decision-making are still needed for diseases with poor outcomes, such as non-small cell lung cancer (NSCLC). Epidermal growth factor receptor (EGFR) is a promising molecule in the clinical management of NSCLC. While the EGFR transmembrane form has been extensively investigated in large clinical trials, the soluble, circulating EGFR isoform (sEGFR), which may have a potential clinical use, has rarely been considered. This study investigates the use of sEGFR as a potential diagnostic biomarker for NSCLC and also characterizes the biological function of sEGFR to clarify the molecular mechanisms involved in the course of action of this protein. Plasma sEGFR levels from a heterogeneous cohort of 37 non-advanced NSCLC patients and 54 healthy subjects were analyzed by using an enzyme-linked immunosorbent assay. The biological function of sEGFR was analyzed in vitro using NSCLC cell lines, investigating effects on cell proliferation and migration. We found that plasma sEGFR was significantly decreased in the NSCLC patient group as compared to the control group (median value: 48.6 vs. 55.6 ng/mL respectively; p = 0.0002). Moreover, we demonstrated that sEGFR inhibits growth and migration of NSCLC cells in vitro through molecular mechanisms that included perturbation of EGF/EGFR cell signaling and holoreceptor internalization. These data show that sEGFR is a potential circulating biomarker with a physiological protective role, providing a first approach to the functional role of the soluble isoform of EGFR. However, the impact of these data on daily clinical practice needs to be further investigated in larger prospective studies. PMID:26295387

A rare cause of coffee-ground vomiting: Retrograde jejunogastric ...

African Journals Online (AJOL)

Retrograde jejunogastric intussusception is a well-recognised, rare, but potentially fatal long-term complication of gastrojejunostomy or Billroth II reconstruction. Only about 200 cases have been reported in the literature to date. Diagnosis of this condition is difficult in most cases. To avoid mortality, earlydiagnosis and prompt ...

Imaging diagnosis of accessory and cavitated uterine mass, a rare mullerian anomaly

Directory of Open Access Journals (Sweden)

Nishchint Jain

2014-01-01

Full Text Available Accessory and Cavitated Uterine Mass (ACUM is a rare form of developmental Mullerian anomaly seen in young females, which presents as chronic recurrent pelvic pain and severe dysmenorrhea. It is an accessory cavity lying within an otherwise normal uterus. It is lined by functional endometrium and surrounded by myometrium-like smooth muscle cells; hence, it bears striking macroscopic and microscopic resemblance to the uterus. Hysterosalpingography (HSG, Ultrasonography (USG, and Magnetic Resonance Imaging (MRI form the mainstay of diagnostic imaging. The entity is often under diagnosed; therefore, a high index of suspicion combined with HSG and MRI imaging can help in making an accurate diagnosis.

Imaging diagnosis of accessory and cavitated uterine mass, a rare mullerian anomaly

International Nuclear Information System (INIS)

Jain, Nishchint; Verma, Ritu

2014-01-01

Accessory and Cavitated Uterine Mass (ACUM) is a rare form of developmental Mullerian anomaly seen in young females, which presents as chronic recurrent pelvic pain and severe dysmenorrhea. It is an accessory cavity lying within an otherwise normal uterus. It is lined by functional endometrium and surrounded by myometrium-like smooth muscle cells; hence, it bears striking macroscopic and microscopic resemblance to the uterus. Hysterosalpingography (HSG), Ultrasonography (USG), and Magnetic Resonance Imaging (MRI) form the mainstay of diagnostic imaging. The entity is often under diagnosed; therefore, a high index of suspicion combined with HSG and MRI imaging can help in making an accurate diagnosis

Total Pancreatic Fracture Due to Blunt Trauma: Report of a Rare Case

Directory of Open Access Journals (Sweden)

Kamil Gulpinar

2016-05-01

Full Text Available A rare case of pancreatic fracture due to blunt trauma was presented. The patient was 70 year old male who had a motor vehicle collision and was suspected a pancreatic trauma due his examinations with ultrasound and computerized tomography. The diagnosis of splenic injury and pancreas body total fracture in the point where the portal vein crosses the pancreatic body was made with the help of magnetic resonance cholangiopancreatography. He was taken to emergency surgery where a splenectomy and a distal pancreatectomy were performed. We represented this infrequent case of pancreatic fracture and its complications after blunt abdominal trauma and discuss the diagnostic and management practices.

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

Directory of Open Access Journals (Sweden)

Marta Córdoba

Full Text Available Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a neurogeneticist led academic group serving in a low-income country-are rare.To assess the diagnostic yield of WES in patients suspected of having a neurogenetic condition and explore the cost-effectiveness of its implementation in a research group located in an Argentinean public hospital.This is a prospective study of the clinical utility of WES in a series of 40 consecutive patients selected from a Neurogenetic Clinic of a tertiary Hospital in Argentina. We evaluated patients retrospectively for previous diagnostic trajectories. Diagnostic yield, clinical impact on management and economic diagnostic burden were evaluated.We demonstrated the clinical utility of Whole Exome Sequencing in our patient cohort, obtaining a diagnostic yield of 40% (95% CI, 24.8%-55.2% among a diverse group of neurological disorders. The average age at the time of WES was 23 (range 3-70. The mean time elapsed from symptom onset to WES was 11 years (range 3-42. The mean cost of the diagnostic workup prior to WES was USD 1646 (USD 1439 to 1853, which is 60% higher than WES cost in our center.WES for neurogenetics proved to be an effective, cost- and time-saving approach for the molecular diagnosis of this heterogeneous and complex group of patients.

Deceptive appearance of normal variant of scaphoid bone in a teenage patient: a diagnostic challenge

Directory of Open Access Journals (Sweden)

Amjad N. Bhatti

2012-02-01

Full Text Available Scaphoid fractures are a common injury in late teens and mid twenties with a peak period in skeletally immature children at about 15 years of age, although considered to be rare in first decade of life, its exact incidence in early teen age remains to be a subject of debate. We report an unusual case of anatomical variation of scaphoid bone at the level of waist which could potentially cause diagnostic confusion. A 14-years-old boy presented in the fracture clinic 2 weeks after injury to his Right wrist which was managed in a scaphoid cast. X-ray examinations, both at the time of injury and later on in the fracture clinic revealed features suspicious of a fracture at the level of waist of the scaphoid bone, however the clinical examination did not correlate with imaging, in view of that radiological imaging of the unaffected side was performed for comparison, which revealed it to be an anatomical variant of scaphoid at this age. To our knowledge there are very few cases of such variation reported in literature in this age group of patients. This case highlights the importance of anatomical variants in scaphoid bone in this age group, which might pose a diagnostic challenge and the need for appropriate management plan and reassurance to avoid unnecessary anxiety.

Wandering spleen in children: a report of 3 cases and a brief literature review underlining the importance of diagnostic imaging.

Science.gov (United States)

Lombardi, Roberta; Menchini, Laura; Corneli, Teresa; Magistrelli, Andrea; Accinni, Antonella; Monti, Lidia; Tomà, Paolo

2014-03-01

Wandering spleen is a rare condition in children that is often caused by loss or weakening of the splenic ligaments. Its clinical presentation is variable; 64% of children with wandering spleen have splenic torsion as a complication. To provide up-to-date information on the diagnosis, clinical management and diagnostic imaging approaches for wandering spleen in infants and children and to underline the importance of color Doppler US and CT in providing important information for patient management. We report a series of three children with wandering spleen treated at our children's hospital over the last 6 years. All three underwent clinical evaluation, color Doppler US and CT and were surgically treated. We also reviewed 40 articles that included 55 patients younger than 18 years reported in the Medline database from 2002 to 2012. We correlated pathological data with imaging findings. Color Doppler US, the first imaging modality in investigating abdominal symptoms in children with suspected wandering spleen, yielded a diagnostic sensitivity of 54.9%, whereas CT achieved about 71.7%. Radiologic evaluation has a major role in confirming the diagnosis of a suspected wandering spleen and avoiding potentially life-threatening complications requiring immediate surgery.

Wandering spleen in children: a report of 3 cases and a brief literature review underlining the importance of diagnostic imaging

Energy Technology Data Exchange (ETDEWEB)

Lombardi, Roberta; Menchini, Laura; Corneli, Teresa; Magistrelli, Andrea; Monti, Lidia; Toma, Paolo [Bambino Gesu Pediatric Hospital, Department of Radiology, Rome (Italy); Accinni, Antonella [Bambino Gesu Pediatric Hospital, Department of General and Thoracic Surgery, Rome (Italy)

2014-03-15

Wandering spleen is a rare condition in children that is often caused by loss or weakening of the splenic ligaments. Its clinical presentation is variable; 64% of children with wandering spleen have splenic torsion as a complication. To provide up-to-date information on the diagnosis, clinical management and diagnostic imaging approaches for wandering spleen in infants and children and to underline the importance of color Doppler US and CT in providing important information for patient management. We report a series of three children with wandering spleen treated at our children's hospital over the last 6 years. All three underwent clinical evaluation, color Doppler US and CT and were surgically treated. We also reviewed 40 articles that included 55 patients younger than 18 years reported in the Medline database from 2002 to 2012. We correlated pathological data with imaging findings. Color Doppler US, the first imaging modality in investigating abdominal symptoms in children with suspected wandering spleen, yielded a diagnostic sensitivity of 54.9%, whereas CT achieved about 71.7%. Radiologic evaluation has a major role in confirming the diagnosis of a suspected wandering spleen and avoiding potentially life-threatening complications requiring immediate surgery. (orig.)

Wandering spleen in children: a report of 3 cases and a brief literature review underlining the importance of diagnostic imaging

International Nuclear Information System (INIS)

Lombardi, Roberta; Menchini, Laura; Corneli, Teresa; Magistrelli, Andrea; Monti, Lidia; Toma, Paolo; Accinni, Antonella

2014-01-01

Wandering spleen is a rare condition in children that is often caused by loss or weakening of the splenic ligaments. Its clinical presentation is variable; 64% of children with wandering spleen have splenic torsion as a complication. To provide up-to-date information on the diagnosis, clinical management and diagnostic imaging approaches for wandering spleen in infants and children and to underline the importance of color Doppler US and CT in providing important information for patient management. We report a series of three children with wandering spleen treated at our children's hospital over the last 6 years. All three underwent clinical evaluation, color Doppler US and CT and were surgically treated. We also reviewed 40 articles that included 55 patients younger than 18 years reported in the Medline database from 2002 to 2012. We correlated pathological data with imaging findings. Color Doppler US, the first imaging modality in investigating abdominal symptoms in children with suspected wandering spleen, yielded a diagnostic sensitivity of 54.9%, whereas CT achieved about 71.7%. Radiologic evaluation has a major role in confirming the diagnosis of a suspected wandering spleen and avoiding potentially life-threatening complications requiring immediate surgery. (orig.)

Potential Diagnostic, Prognostic and Therapeutic Targets of MicroRNAs in Human Gastric Cancer

Directory of Open Access Journals (Sweden)

Ming-Ming Tsai

2016-06-01

Full Text Available Human gastric cancer (GC is characterized by a high incidence and mortality rate, largely because it is normally not identified until a relatively advanced stage owing to a lack of early diagnostic biomarkers. Gastroscopy with biopsy is the routine method for screening, and gastrectomy is the major therapeutic strategy for GC. However, in more than 30% of GC surgical patients, cancer has progressed too far for effective medical resection. Thus, useful biomarkers for early screening or detection of GC are essential for improving patients’ survival rate. MicroRNAs (miRNAs play an important role in tumorigenesis. They contribute to gastric carcinogenesis by altering the expression of oncogenes and tumor suppressors. Because of their stability in tissues, serum/plasma and other body fluids, miRNAs have been suggested as novel tumor biomarkers with suitable clinical potential. Recently, aberrantly expressed miRNAs have been identified and tested for clinical application in the management of GC. Aberrant miRNA expression profiles determined with miRNA microarrays, quantitative reverse transcription-polymerase chain reaction and next-generation sequencing approaches could be used to establish sample specificity and to identify tumor type. Here, we provide an up-to-date summary of tissue-based GC-associated miRNAs, describing their involvement and that of their downstream targets in tumorigenic and biological processes. We examine correlations among significant clinical parameters and prognostic indicators, and discuss recurrence monitoring and therapeutic options in GC. We also review plasma/serum-based, GC-associated, circulating miRNAs and their clinical applications, focusing especially on early diagnosis. By providing insights into the mechanisms of miRNA-related tumor progression, this review will hopefully aid in the identification of novel potential therapeutic targets.

ADHD and Present Hedonism: time perspective as a potential diagnostic and therapeutic tool

Directory of Open Access Journals (Sweden)

Weissenberger S

2016-11-01

Full Text Available S Weissenberger,1 M Klicperova-Baker,2 P Zimbardo,3 K Schonova,1 D Akotia,1 J Kostal,2 M Goetz,4 J Raboch,1 R Ptacek1 1First Medical Faculty, Charles University, 2Institute of Psychology, Academy of Sciences of the Czech Republic, Praha, Czech Republic; 3Department of Psychology, Stanford University, Stanford, CA, USA; 4Second Faculty of Medicine, Department of Child Psychiatry, Charles University, Motol University Hospital, Praha, Czech RepublicAbstract: The article draws primarily from the behavioral findings (mainly psychiatric and psychological observations and points out the important relationships between attention-deficit/hyperactivity disorder (ADHD symptoms and time orientation. Specifically, the authors argue that there is a significant overlap between the symptoms of ADHD and Present Hedonism. Present Hedonism is defined by Zimbardo’s time perspective theory and assessed by Zimbardo Time Perspective Inventory. Developmental data on Present Hedonism of males and females in the Czech population sample (N=2201 are also presented. The hypothesis of relationship between ADHD and Present Hedonism is mainly derived from the prevalence of addictive behavior (mainly excessive Internet use, alcohol abuse, craving for sweets, fatty foods, and fast foods, deficits in social learning, and increased aggressiveness both in ADHD and in the population high on Present Hedonism. We conclude that Zimbardo’s time perspective offers both: 1 a potential diagnostic tool – the Zimbardo Time Perspective Inventory, particularly its Present Hedonism scale, and 2 a promising preventive and/or therapeutic approach by the Time Perspective Therapy. Time Perspective Therapy has so far been used mainly to treat past negative trauma (most notably, posttraumatic stress disorder; however, it also has value as a potential therapeutic tool for possible behavioral compensation of ADHD.Keywords: ADHD, time perspective, ZTPI, Zimbardo, addiction, alcoholism, delinquency

Rare earths 1998 market update

International Nuclear Information System (INIS)

Tourre, J.M.

1998-01-01

The rare earth industry has always been a world of rapid change with the emergence of new markets, new ores and new players, as well as the disappearance of old applications. Rare earth based products are used in a great diversity of applications such as hard disk drives, CD drives, batteries, capacitors, pigments, ceramics, polishing powders, fuel cells, flints, catalyst converter, fluid cracking catalysts, etc. South East Asia holds the largest share of the known reserve of rare earth ores and is one of the major markets for rare earth compounds; in the last ten years, China has become the largest producer of rare earth intermediates as well as an important exporter of separated rare earth elements. Today, China has approximately 150 factories producing rare earth compounds, most of which are experiencing financial difficulties due to the lack of knowledge of true market needs, lack of control of their distribution channels and production over-capacity. Recently the Chinese rare earth producers have recognized the situation and efforts are underway to rationalize rare earth production. Japan has dominated many of the major application markets, and is by far the largest market for metal and alloy products. This will remain the case for the next five years; however, new countries are emerging as significant users of rare earth products such as Korea, Taiwan and Malaysia. During the last ten years rare earth producers adjusted to several radical changes that affected the raw materials, the application mix and the price structure. New producers have emerged, especially from China; some have subsequently stopped their activities while others have focused their efforts in a specific market segment

2012 HIV Diagnostics Conference: the molecular diagnostics perspective.

Science.gov (United States)

Branson, Bernard M; Pandori, Mark

2013-04-01

2012 HIV Diagnostic Conference Atlanta, GA, USA, 12-14 December 2012. This report highlights the presentations and discussions from the 2012 National HIV Diagnostic Conference held in Atlanta (GA, USA), on 12-14 December 2012. Reflecting changes in the evolving field of HIV diagnostics, the conference provided a forum for evaluating developments in molecular diagnostics and their role in HIV diagnosis. In 2010, the HIV Diagnostics Conference concluded with the proposal of a new diagnostic algorithm which included nucleic acid testing to resolve discordant screening and supplemental antibody test results. The 2012 meeting, picking up where the 2010 meeting left off, focused on scientific presentations that assessed this new algorithm and the role played by RNA testing and new developments in molecular diagnostics, including detection of total and integrated HIV-1 DNA, detection and quantification of HIV-2 RNA, and rapid formats for detection of HIV-1 RNA.

Comparison of Different Matrices as Potential Quality Control Samples for Neurochemical Dementia Diagnostics

NARCIS (Netherlands)

Lelental, Natalia; Brandner, Sebastian; Kofanova, Olga; Blennow, Kaj; Zetterberg, Henrik; Andreasson, Ulf; Engelborghs, Sebastiaan; Mroczko, Barbara; Gabryelewicz, Tomasz; Teunissen, Charlotte; Mollenhauer, Brit; Parnetti, Lucilla; Chiasserini, Davide; Molinuevo, Jose Luis; Perret-Liaudet, Armand; Verbeek, Marcel M.; Andreasen, Niels; Brosseron, Frederic; Bahl, Justyna M. C.; Herukka, Sanna-Kaisa; Hausner, Lucrezia; Froelich, Lutz; Labonte, Anne; Poirier, Judes; Miller, Anne-Marie; Zilka, Norbert; Kovacech, Branislav; Urbani, Andrea; Suardi, Silvia; Oliveira, Catarina; Baldeiras, Ines; Dubois, Bruno; Rot, Uros; Lehmann, Sylvain; Skinningsrud, Anders; Betsou, Fay; Wiltfang, Jens; Gkatzima, Olymbia; Winblad, Bengt; Buchfelder, Michael; Kornhuber, Johannes; Lewczuk, Piotr

2016-01-01

Background: Assay-vendor independent quality control (QC) samples for neurochemical dementia diagnostics (NDD) biomarkers are so far commercially unavailable. This requires that NDD laboratories prepare their own QC samples, for example by pooling leftover cerebrospinal fluid (CSF) samples.

Diagnostics of vascular diseases as a cause for acute abdomen

International Nuclear Information System (INIS)

Juchems, M.S.; Aschoff, A.J.

2010-01-01

Vascular pathologies are rare causes of an acute abdomen. If the cause is a vascular disease a rapid diagnosis is desired as vascular pathologies are associated with high mortality. A differentiation must be made between arterial and venous diseases. An occlusion of the superior mesenteric artery is the most common reason for acute mesenteric ischemia but intra-abdominal arterial bleeding is also of great importance. Venous pathologies include thrombotic occlusion of the portal vein, the mesenteric vein and the vena cava. Multi-detector computed tomography (MDCT) is predestined for the diagnostics of vascular diseases of the abdomen. Using multiphasic contrast protocols enables reliable imaging of the arterial and venous vessel tree and detection of disorders with high sensitivity and specificity. Although conventional angiography has been almost completely replaced by MDCT as a diagnostic tool, it is still of high importance for minimally invasive interventions, for example in the management of gastrointestinal bleeding. (orig.) [de

Rare species support vulnerable functions in high-diversity ecosystems.

Science.gov (United States)

Mouillot, David; Bellwood, David R; Baraloto, Christopher; Chave, Jerome; Galzin, Rene; Harmelin-Vivien, Mireille; Kulbicki, Michel; Lavergne, Sebastien; Lavorel, Sandra; Mouquet, Nicolas; Paine, C E Timothy; Renaud, Julien; Thuiller, Wilfried

2013-01-01

Around the world, the human-induced collapses of populations and species have triggered a sixth mass extinction crisis, with rare species often being the first to disappear. Although the role of species diversity in the maintenance of ecosystem processes has been widely investigated, the role of rare species remains controversial. A critical issue is whether common species insure against the loss of functions supported by rare species. This issue is even more critical in species-rich ecosystems where high functional redundancy among species is likely and where it is thus often assumed that ecosystem functioning is buffered against species loss. Here, using extensive datasets of species occurrences and functional traits from three highly diverse ecosystems (846 coral reef fishes, 2,979 alpine plants, and 662 tropical trees), we demonstrate that the most distinct combinations of traits are supported predominantly by rare species both in terms of local abundance and regional occupancy. Moreover, species that have low functional redundancy and are likely to support the most vulnerable functions, with no other species carrying similar combinations of traits, are rarer than expected by chance in all three ecosystems. For instance, 63% and 98% of fish species that are likely to support highly vulnerable functions in coral reef ecosystems are locally and regionally rare, respectively. For alpine plants, 32% and 89% of such species are locally and regionally rare, respectively. Remarkably, 47% of fish species and 55% of tropical tree species that are likely to support highly vulnerable functions have only one individual per sample on average. Our results emphasize the importance of rare species conservation, even in highly diverse ecosystems, which are thought to exhibit high functional redundancy. Rare species offer more than aesthetic, cultural, or taxonomic diversity value; they disproportionately increase the potential breadth of functions provided by ecosystems across

Prostate cancer diagnostics: Clinical challenges and the ongoing need for disruptive and effective diagnostic tools.

Science.gov (United States)

Sharma, Shikha; Zapatero-Rodríguez, Julia; O'Kennedy, Richard

The increased incidence and the significant health burden associated with carcinoma of the prostate have led to substantial changes in its diagnosis over the past century. Despite technological advancements, the management of prostate cancer has become progressively more complex and controversial for both early and late-stage disease. The limitations and potential harms associated with the use of prostate-specific antigen (PSA) as a diagnostic marker have stimulated significant investigation of numerous novel biomarkers that demonstrate varying capacities to detect prostate cancer and can decrease unnecessary biopsies. However, only a few of these markers have been approved for specific clinical settings while the others have not been adequately validated for use. This review systematically and critically assesses ongoing issues and emerging challenges in the current state of prostate cancer diagnostic tools and the need for disruptive next generation tools based on analysis of combinations of these biomarkers to enhance predictive accuracy which will benefit clinical diagnostics and patient welfare. Copyright © 2016. Published by Elsevier Inc.

POTENTIAL FOR RARE EARTH ELEMENT RESOURCE EFFICIENCY IMPROVEMENTS IN PERMANENT MAGNET MOTORS THROUGH AN EXTENSION OF THE ELECTRIC MOTOR PRODUCT GROUP REGULATION UNDER THE EU ECODESIGN DIRECTIVE

OpenAIRE

Machacek, Erika; Dalhammar, Carl

2013-01-01

It has been proposed that the EU Ecodesign Directive can promote resource efficiency through relevant ecodesign requirements. This paper examines the potential for rare earth element (REE) resource efficiency improvements in the event the current regulation for electric motors under the Ecodesign Directive is to be extended to comprise REE-based permanent magnet motors. The research is based on literature studies, questionnaires and semi-structured interviews with representatives from industr...

Rare earths: occurrence, production and applications

International Nuclear Information System (INIS)

Murthy, T.K.S.; Mukherjee, T.K.

2002-01-01

The mining and processing of rare earth minerals, particularly of monazite, began in a modest way in 1880s for commercialized production of mantle for gas lighting. For all major applications up to mid-twentieth century- production of lighter flints, misch metal as a metallurgical alloying agent, colouring, decolourizing and polishing agents for glass, petroleum cracking catalysts and arc-carbons, unseparated or partially separated rare earths were adequate. These applications continue till today. With the development and industrial application of powerful techniques like ion exchange and solvent extraction for the separation of rare earths, the decades after 1960 saw increasing utilization of the specific properties of the individual rare earths. Some of these advanced technological applications include: special glass for optical systems including camera lenses, phosphors for colour television, cathode ray tubes and fluorescent lighting, X-ray intensification screens, high intensity permanent magnets, electro optical devices, lasers, hydrogen storage materials, hydride rechargeable batteries, photomagnetic data storage systems, autoexhaust catalysts, special ceramics of unusual toughness, artificial diamonds and nonpoisonous plastic colorants. The topics covered in the book include rare earths: their story identity, rare earth resources, processing of ores and recovery of mixed rare earths products, separation and purification of rare earths, nonmetallic applications of rare earths, rare earth metals: production and applications, rare earth alloys and their applications, analysis of rare earth, processing of rare earth resources in India by Indian Rare Earth Ltd. and availability and market conditions

RARE DISEASES AND GENETIC DISCRIMINATION

Directory of Open Access Journals (Sweden)

Mariela Yaneva – Deliverska

2011-04-01

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

Subdural empyema following lumbar facet joint injection: An exceeding rare complication.

Science.gov (United States)

Fayeye, Oluwafikayo; Silva, Adikarige Haritha Dulanka; Chavda, Swarupsinh; Furtado, Navin Raoul

2016-01-01

Chronic low back pain is extremely common with a life time prevalence estimated at greater than 70%. Facet joint arthrosis is thought to be the causative aetiological substrate in approximately 25% of chronic low back pain cases. Facet joint injection is a routine intervention in the armamentarium for both the diagnostic and therapeutic management of chronic low back pain. In fact, a study by Carrino et al. reported in excess of 94,000 facet joint injection procedures were carried out in the US in 1999. Although generally considered safe, the procedure is not entirely without risk. Complications including bleeding, infection, exacerbation of pain, dural puncture headache, and pneumothorax have been described. We report a rare case of a 47-year-old female patient who developed a left L4/5 facet septic arthrosis with an associated subdural empyema and meningitis following facet joint injection. This case is unique, as to the best of our knowledge no other case of subdural empyema following facet joint injection has been reported in the literature. Furthermore this case serves to highlight the potential serious adverse sequelae of a routine and apparently innocuous intervention. The need for medical practitioners to be alert to and respond rapidly to the infective complications of facet joint injection cannot be understated. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Primary Iliac Venous Leiomyosarcoma: A Rare Cause of Deep Vein Thrombosis in a Young Patient

Directory of Open Access Journals (Sweden)

Nelson Oliveira

2011-01-01

Full Text Available Introduction. Primary venous tumours are a rare cause of deep vein thrombosis. The authors present a case where the definitive diagnosis was delayed by inconclusive complementary imaging. Clinical Case. A thirty-seven-year-old female presented with an iliofemoral venous thrombosis of the right lower limb. The patient had presented with an episode of femoral-popliteal vein thrombosis five months before and was currently under anticoagulation. Phlegmasia alba dolens installed progressively, as thrombus rapidly extended to the inferior vena cava despite systemic thrombolysis and anticoagulation. Diagnostic imaging failed to identify the underlying aetiology of the deep vein thrombosis. The definitive diagnosis of primary venous leiomyosarcoma was reached by a subcutaneous abdominal wall nodule biopsy. Conclusion. Primary venous leiomyosarcoma of the iliac vein is a rare cause of deep vein thrombosis, which must be considered in young patients with recurrent or refractory to treatment deep vein thrombosis.

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

Institute of Scientific and Technical Information of China (English)

2015-01-01

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

Differentially expressed androgen-regulated genes in androgen-sensitive tissues reveal potential biomarkers of early prostate cancer.

Directory of Open Access Journals (Sweden)

Dogus Murat Altintas

Full Text Available BACKGROUND: Several data favor androgen receptor implication in prostate cancer initiation through the induction of several gene activation programs. The aim of the study is to identify potential biomarkers for early diagnosis of prostate cancer (PCa among androgen-regulated genes (ARG and to evaluate comparative expression of these genes in normal prostate and normal prostate-related androgen-sensitive tissues that do not (or rarely give rise to cancer. METHODS: ARG were selected in non-neoplastic adult human prostatic epithelial RWPE-1 cells stably expressing an exogenous human androgen receptor, using RNA-microarrays and validation by qRT-PCR. Expression of 48 preselected genes was quantified in tissue samples (seminal vesicles, prostate transitional zones and prostate cancers, benign prostatic hypertrophy obtained from surgical specimens using TaqMan® low-density arrays. The diagnostic performances of these potential biomarkers were compared to that of genes known to be associated with PCa (i.e. PCA3 and DLX1. RESULTS AND DISCUSSION: By crossing expression studies in 26 matched PCa and normal prostate transitional zone samples, and 35 matched seminal vesicle and PCa samples, 14 genes were identified. Similarly, 9 genes were overexpressed in 15 benign prostatic hypertrophy samples, as compared to PCa samples. Overall, we selected 8 genes of interest to evaluate their diagnostic performances in comparison with that of PCA3 and DLX1. Among them, 3 genes: CRYAB, KCNMA1 and SDPR, were overexpressed in all 3 reference non-cancerous tissues. The areas under ROC curves of these genes reached those of PCA3 (0.91 and DLX1 (0.94. CONCLUSIONS: We identified ARG with reduced expression in PCa and with significant diagnostic values for discriminating between cancerous and non-cancerous prostatic tissues, similar that of PCA3. Given their expression pattern, they could be considered as potentially protective against prostate cancer. Moreover, they could

The role of rare earths in narrow energy gap semiconductors

International Nuclear Information System (INIS)

Partin, D.L.; Heremans, J.; Morelli, D.T.; Thrush, C.M.

1991-01-01

Narrow energy band gap semiconductors are potentially useful for various devices, including infrared detectors and diode lasers. Rare earth elements have been introduced into lead chalcogenide semiconductors using the molecular beam epitaxy growth process. Europium and ytterbium increase the energy band gap, and nearly lattice-matched heterojunctions have been grown. In some cases, valence changes in the rare earth element cause doping of the alloy. In this paper some initial investigations of the addition of europium to indium antimonide are reported, including the variation of lattice parameter and optical transmission with composition and a negative magnetoresistance effect

A Rare Presentation of a Rare Disease: Pulmonary Lymphomatoid Granulomatosis

Directory of Open Access Journals (Sweden)

Ghulam Rehman Mohyuddin

2012-01-01

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

Maxillary Osteomyelitis: A Rare Entity

Directory of Open Access Journals (Sweden)

Ayaaz Habib

2016-01-01

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

Measures to Improve Diagnostic Safety in Clinical Practice.

Science.gov (United States)

Singh, Hardeep; Graber, Mark L; Hofer, Timothy P

2016-10-20

Timely and accurate diagnosis is foundational to good clinical practice and an essential first step to achieving optimal patient outcomes. However, a recent Institute of Medicine report concluded that most of us will experience at least one diagnostic error in our lifetime. The report argues for efforts to improve the reliability of the diagnostic process through better measurement of diagnostic performance. The diagnostic process is a dynamic team-based activity that involves uncertainty, plays out over time, and requires effective communication and collaboration among multiple clinicians, diagnostic services, and the patient. Thus, it poses special challenges for measurement. In this paper, we discuss how the need to develop measures to improve diagnostic performance could move forward at a time when the scientific foundation needed to inform measurement is still evolving. We highlight challenges and opportunities for developing potential measures of "diagnostic safety" related to clinical diagnostic errors and associated preventable diagnostic harm. In doing so, we propose a starter set of measurement concepts for initial consideration that seem reasonably related to diagnostic safety and call for these to be studied and further refined. This would enable safe diagnosis to become an organizational priority and facilitate quality improvement. Health-care systems should consider measurement and evaluation of diagnostic performance as essential to timely and accurate diagnosis and to the reduction of preventable diagnostic harm.This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

[Sirenomelia--a rare cause of an oligoanhydramnion in the second trimester--a case report].

Science.gov (United States)

Morfeld, C A; Hofstaetter, C; Adolf, S; Radner, H; Schild, R L

2012-02-01