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Sample records for defined clinical diagnostic

  1. Diagnostic accuracy of the WHO clinical staging system for defining eligibility for ART in sub-Saharan Africa: a systematic review and meta-analysis

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    Chigomezgo Munthali

    2014-06-01

    Full Text Available Introduction: The World Health Organization (WHO recommends that HIV-positive adults with CD4 count ≤500 cells/mm3 initiate antiretroviral therapy (ART. In many countries of sub-Saharan Africa, CD4 count is not widely available or consistently used and instead the WHO clinical staging system is used to determine ART eligibility. However, concerns have been raised regarding its discriminatory ability to identify patients eligible to start ART. We therefore reviewed the accuracy of WHO stage 3 or 4 assessment in identifying ART eligibility according to CD4 count thresholds for ART initiation. Methods: We systematically searched PubMed and Global Health databases and conference abstracts using a comprehensive strategy for studies that compared the results of WHO clinical staging with CD4 count thresholds. Studies performed in sub-Saharan Africa and published in English between 1998 and 2013 were eligible for inclusion according to our predefined study protocol. Two authors independently extracted data and assessed methodological quality and risk of bias using the Quality Assessment Tool for Diagnostic Accuracy Studies (QUADAS-2 tool. Summary estimates of sensitivity and specificity were derived for each CD4 count threshold and hierarchical summary receiver operator characteristic curves were plotted. Results: Fifteen studies met the inclusion criteria, including 25,032 participants from 14 countries. Most studies assessed individuals attending ART clinics prior to treatment initiation. WHO clinical stage 3 or 4 disease had a sensitivity of 60% (95% CI: 45–73%, Q=914.26, p<0.001 and specificity of 73% (95% CI: 60–83%, Q=1439.43, p<0.001 for a CD4 threshold of ≤200 cells/mm3 (11 studies; sensitivity and specificity for a threshold of CD4 count ≤350 cells/mm3 were 45% (95% CI: 26–66%, Q=1607.31, p<0.001 and 85% (95% CI: 69–93%, Q=896.70, p<0.001, respectively (six studies. For the threshold of CD4 count ≤500 cells/mm3 sensitivity was

  2. Inferences of clinical diagnostic reasoning and diagnostic error.

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    Lawson, Anton E; Daniel, Erno S

    2011-06-01

    This paper discusses clinical diagnostic reasoning in terms of a pattern of If/then/Therefore reasoning driven by data gathering and the inference of abduction, as defined in the present paper, and the inferences of retroduction, deduction, and induction as defined by philosopher Charles Sanders Peirce. The complex inferential reasoning driving clinical diagnosis often takes place subconsciously and so rapidly that its nature remains largely hidden from the diagnostician. Nevertheless, we propose that raising such reasoning to the conscious level reveals not its basic pattern and basic inferences, it also reveals where errors can and do occur and how such errors might be reduced or even eliminated.

  3. Subthreshold anxiety better defined by symptom self-report than by diagnostic interview

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    Karsten, J.; Nolen, W. A.; Penninx, B. W. J. H.; Hartman, C. A.

    Background: There is no consensus on how to define subthreshold anxiety. Based on functional impairment, we aim to evaluate the use of a diagnostic instrument and an anxiety severity questionnaire to derive an empirical cut-off for defining clinically relevant, subthreshold anxiety. Methods: Our

  4. The prevalence and clinical characteristics associated with Diagnostic and Statistical Manual Version-5-defined anxious distress specifier in adults with major depressive disorder

    DEFF Research Database (Denmark)

    McIntyre, Roger S.; Woldeyohannes, Hanna O; Soczynska, Joanna K

    2016-01-01

    OBJECTIVES: The aim of the study was to evaluate the prevalence of and illness characteristics in adults with major depressive disorder (MDD) with anxious distress specifier (ADS) enrolled in the International Mood Disorders Collaborative Project, which is a collaborative research platform...... Manual Version-5-defined ADS was operationalized as the presence of at least two out of three proxy items instead of two out of five specifiers. RESULTS: A total of 464 individuals (i.e. 56%) met criteria for ADS. There were no between-group differences in sociodemographic variables (e.g. gender...

  5. Immunosensors in Clinical Laboratory Diagnostics.

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    Justino, Celine I L; Duarte, Armando C; Rocha-Santos, Teresa A P

    2016-01-01

    The application of simple, cost-effective, rapid, and accurate diagnostic technologies for detection and identification of cardiac and cancer biomarkers has been a central point in the clinical area. Biosensors have been recognized as efficient alternatives for the diagnostics of various diseases due to their specificity and potential for application on real samples. The role of nanotechnology in the construction of immunological biosensors, that is, immunosensors, has contributed to the improvement of sensitivity, since they are based in the affinity between antibody and antigen. Other analytes than biomarkers such as hormones, pathogenic bacteria, and virus have also been detected by immunosensors for clinical point-of-care applications. In this chapter, we first introduced the various types of immunosensors and discussed their applications in clinical diagnostics over the recent 6 years, mainly as point-of-care technologies for the determination of cardiac and cancer biomarkers, hormones, pathogenic bacteria, and virus. The future perspectives of these devices in the field of clinical diagnostics are also evaluated.

  6. Diagnostic discrepancies in clinical practice

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    Issa, Victor Sarli; Dinardi, Layara Fernanda Lipari; Pereira, Thiago Vicente; de Almeida, Lyna Kyria Rodrigues; Barbosa, Thaisa Silveira; Benvenutti, Luiz Alberto; Ayub-Ferreira, Silvia Moreira; Bocchi, Edimar Alcides

    2017-01-01

    Abstract Autopsies are the gold standard for diagnostic accuracy; however, no recent study has analyzed autopsies in heart failure (HF). We reviewed 1241 autopsies (January 2000–May 2005) and selected 232 patients with HF. Clinical and autopsy diagnoses were analyzed and discrepancies categorized according to their importance regarding therapy and prognosis. Mean age was 63.3 ± 15.9 years; 154 (66.4%) patients were male. The causes of death at autopsy were end-stage HF (40.9%), acute myocardial infarction (17.2%), infection (15.9), and pulmonary embolism 36 (15.5). Diagnostic discrepancies occurred in 191 (82.3%) cases; in 56 (24.1%), discrepancies were related to major diagnoses with potential influence on survival or treatment; pulmonary embolism was the cause of death for 24 (42.9%) of these patients. In 35 (15.1%), discrepancies were related to a major diagnosis with equivocal influence on survival or treatment; in 100 (43.1%), discrepancies did not influence survival or treatment. In multivariate analysis, age (OR: 1.03, 95% CI: 1.008–1.052, P = 0.007) and presence of diabetes mellitus (OR: 0.359, 95% CI: 0.168–0.767, P = 0.008) influenced the occurrence discrepancies. Diagnostic discrepancies with a potential impact on prognosis are frequent in HF. These findings warrant reconsideration in diagnostic and therapeutic practices with HF patients. PMID:28121951

  7. Recognizing and defining clinical nurse leaders.

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    Stanley, David

    This article addresses the issue of clinical leadership and how it is defined. The concepts and definitions of clinical leadership are considered as well as the results of new research that suggests that clinical leaders can be seen as experts in their field, and because they are approachable and are effective communicators, are empowered to act as a role model, motivating others by matching their values and beliefs about nursing and care to their practice. This is supported by a new leadership theory, congruent leadership, proposed as the most appropriate leadership theory to support an understanding of clinical leadership. Congruent leaders (clinical nurse leaders) are followed because there is a match between the leader's values and beliefs and their actions.

  8. MDS clinical diagnostic criteria for Parkinson's disease.

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    Postuma, Ronald B; Berg, Daniela; Stern, Matthew; Poewe, Werner; Olanow, C Warren; Oertel, Wolfgang; Obeso, José; Marek, Kenneth; Litvan, Irene; Lang, Anthony E; Halliday, Glenda; Goetz, Christopher G; Gasser, Thomas; Dubois, Bruno; Chan, Piu; Bloem, Bastiaan R; Adler, Charles H; Deuschl, Günther

    2015-10-01

    This document presents the Movement Disorder Society Clinical Diagnostic Criteria for Parkinson's disease (PD). The Movement Disorder Society PD Criteria are intended for use in clinical research but also may be used to guide clinical diagnosis. The benchmark for these criteria is expert clinical diagnosis; the criteria aim to systematize the diagnostic process, to make it reproducible across centers and applicable by clinicians with less expertise in PD diagnosis. Although motor abnormalities remain central, increasing recognition has been given to nonmotor manifestations; these are incorporated into both the current criteria and particularly into separate criteria for prodromal PD. Similar to previous criteria, the Movement Disorder Society PD Criteria retain motor parkinsonism as the core feature of the disease, defined as bradykinesia plus rest tremor or rigidity. Explicit instructions for defining these cardinal features are included. After documentation of parkinsonism, determination of PD as the cause of parkinsonism relies on three categories of diagnostic features: absolute exclusion criteria (which rule out PD), red flags (which must be counterbalanced by additional supportive criteria to allow diagnosis of PD), and supportive criteria (positive features that increase confidence of the PD diagnosis). Two levels of certainty are delineated: clinically established PD (maximizing specificity at the expense of reduced sensitivity) and probable PD (which balances sensitivity and specificity). The Movement Disorder Society criteria retain elements proven valuable in previous criteria and omit aspects that are no longer justified, thereby encapsulating diagnosis according to current knowledge. As understanding of PD expands, the Movement Disorder Society criteria will need continuous revision to accommodate these advances. © 2015 International Parkinson and Movement Disorder Society.

  9. THE PROBLEMS OF EARLY CLINICAL DEFECTOLOGICAL DIAGNOSTICS

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    Aleksandar CORDIC

    1997-06-01

    Full Text Available Clinical defectological diagnostics, related to diagnostics of each individual's impairment of his cognitive and socializing abilities, has been applied in our country for a long time. Since it is a new area in the clinical defectological work and a new form of research in defectology, it poses a series of problems which have not been met so far. We shall to recognize some of them in this paper and to aim at their solution.This time we shall consider only the most prominent problems towards which we direct our interventions:· When does defectological diagnostics take part in diagnosis as treatment of impairments of the handicapped person? When does it function in the process of rehabilitation? For example, is working with a dyslexic child treatment or rehabilitation?· When does the early diagnostics reveal a problem arising from inappropriate intersection of different development courses, which can sometimes be solved without any particular treatment (early stuttering, various convulsions, and when does it reveal actual condition, such as oligophrenia or autism. Thereby we ask ourselves if early stimulative treatment of oligophrenic children or children with early childhood psychosis is treatment or rehabilitation.We tried to classify end explain the problems of diagnostics in the context of treatment and rehabilitation and to define the theoretical grounds for our standpoints.We wanted to point out the unity of the process of any impairment of the handicapped person from early childhood to the end of his life. Treatment and rehabilitation should be a united process and follow the course of development of early disorders which sometimes end up as handicaps, and sometimes, thanks to the treatment, may end up in successful socialization, for example, persons with impaired hearing or sight.We establish defectology as a complete theoretical standpoint and expert procedure which is parallel to and complementary with medicine. The only difference we

  10. Diagnostic accuracy of the defining characteristics of the excessive fluid volume diagnosis in hemodialysis patients

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    Maria Isabel da Conceição Dias Fernandes

    2015-12-01

    Full Text Available Objective: to evaluate the accuracy of the defining characteristics of the excess fluid volume nursing diagnosis of NANDA International, in patients undergoing hemodialysis. Method: this was a study of diagnostic accuracy, with a cross-sectional design, performed in two stages. The first, involving 100 patients from a dialysis clinic and a university hospital in northeastern Brazil, investigated the presence and absence of the defining characteristics of excess fluid volume. In the second step, these characteristics were evaluated by diagnostic nurses, who judged the presence or absence of the diagnosis. To analyze the measures of accuracy, sensitivity, specificity, and positive and negative predictive values were calculated. Approval was given by the Research Ethics Committee under authorization No. 148.428. Results: the most sensitive indicator was edema and most specific were pulmonary congestion, adventitious breath sounds and restlessness. Conclusion: the more accurate defining characteristics, considered valid for the diagnostic inference of excess fluid volume in patients undergoing hemodialysis were edema, pulmonary congestion, adventitious breath sounds and restlessness. Thus, in the presence of these, the nurse may safely assume the presence of the diagnosis studied.

  11. The usefulness of the consensus clinical diagnostic criteria in Brugada syndrome

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    Sarkozy, A.; Paparella, G.; Boussy, T.; Casado-Arroyo, R.; Yazaki, Y.; Chierchia, G.B.; Asmundis, C. de; Bayrak, F.; Namdar, M.; Richter, S.; Brugada, J.; Brugada, P.

    2013-01-01

    BACKGROUND: Consensus statements were proposed for the diagnosis of Brugada syndrome (BS). The clinical diagnostic criteria were defined as documented ventricular fibrillation or ventricular tachycardia (VT), family history of sudden cardiac death at <45 years, diagnostic ECGs of family members,

  12. MDS clinical diagnostic criteria for Parkinson's disease

    NARCIS (Netherlands)

    Postuma, R.B.; Berg, D; Stern, M.; Poewe, W.; Olanow, C.W.; Oertel, W.; Obeso, J.; Marek, K.; Litvan, I.; Lang, A.E.; Halliday, G.; Goetz, C.G.; Gasser, T.; Dubois, B.; Chan, P.; Bloem, B.R.; Adler, C.H.; Deuschl, G.

    2015-01-01

    This document presents the Movement Disorder Society Clinical Diagnostic Criteria for Parkinson's disease (PD). The Movement Disorder Society PD Criteria are intended for use in clinical research but also may be used to guide clinical diagnosis. The benchmark for these criteria is expert clinical di

  13. Defining the clinical course of multiple sclerosis

    DEFF Research Database (Denmark)

    Lublin, Fred D; Reingold, Stephen C; Cohen, Jeffrey A

    2014-01-01

    Accurate clinical course descriptions (phenotypes) of multiple sclerosis (MS) are important for communication, prognostication, design and recruitment of clinical trials, and treatment decision-making. Standardized descriptions published in 1996 based on a survey of international MS experts...

  14. Osteoporosis and osteomalacia - clinical and diagnostic problems

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    A. S. Avrunin

    2014-01-01

    Full Text Available Aim: to define main clinical and diagnostical problems related to osteoporosis and osteomalacia. Literature data showed that not only osteoporosis but osteomalacia may be the reason for decreasing of mechanical properties of skeleton with risk of low-energy fractures. The solution of associated medical and social problems is difficult because DEXA does not allow to differentiate between osteoporosis and osteomalacia that leads to misdiagnosis and unnecessary prescription of antiosteoporotic drugs. This approach is pathogenetically unproved and even may be harmful for the patient. Osteoporosis and osteomalacia does not exclude each other so bone mass reducing in one cohort of patient may be due to osteoporosis, other - osteomalacia and some of them - combinations of both. Another point is that results of controlled clinical trials that evaluated efficacy of antiosteoporotic drugs without differentiative histology tests for osteoporosis and osteomalacia are of doubtful value. As the bone biopsy that is necessary for osteomalacia diagnosis is invasive procedure there is need in definition of clear criteria when it has to be done in patient with reduced bone mass.

  15. Defining the phylogenomics of Shigella species: a pathway to diagnostics.

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    Sahl, Jason W; Morris, Carolyn R; Emberger, Jennifer; Fraser, Claire M; Ochieng, John Benjamin; Juma, Jane; Fields, Barry; Breiman, Robert F; Gilmour, Matthew; Nataro, James P; Rasko, David A

    2015-03-01

    Shigellae cause significant diarrheal disease and mortality in humans, as there are approximately 163 million episodes of shigellosis and 1.1 million deaths annually. While significant strides have been made in the understanding of the pathogenesis, few studies on the genomic content of the Shigella species have been completed. The goal of this study was to characterize the genomic diversity of Shigella species through sequencing of 55 isolates representing members of each of the four Shigella species: S. flexneri, S. sonnei, S. boydii, and S. dysenteriae. Phylogeny inferred from 336 available Shigella and Escherichia coli genomes defined exclusive clades of Shigella; conserved genomic markers that can identify each clade were then identified. PCR assays were developed for each clade-specific marker, which was combined with an amplicon for the conserved Shigella invasion antigen, IpaH3, into a multiplex PCR assay. This assay demonstrated high specificity, correctly identifying 218 of 221 presumptive Shigella isolates, and sensitivity, by not identifying any of 151 diverse E. coli isolates incorrectly as Shigella. This new phylogenomics-based PCR assay represents a valuable tool for rapid typing of uncharacterized Shigella isolates and provides a framework that can be utilized for the identification of novel genomic markers from genomic data.

  16. Defining Characteristics of Diagnostic Classification Models and the Problem of Retrofitting in Cognitive Diagnostic Assessment

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    Gierl, Mark J.; Cui, Ying

    2008-01-01

    One promising application of diagnostic classification models (DCM) is in the area of cognitive diagnostic assessment in education. However, the successful application of DCM in educational testing will likely come with a price--and this price may be in the form of new test development procedures and practices required to yield data that satisfy…

  17. [Spigelian hernia: clinical, diagnostic and therapeutical aspects].

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    Versaci, A; Rossitto, M; Centorrino, T; Barbera, A; Fonti, M T; Broccio, M; Ciccolo, A

    1998-01-01

    The Authors describing a case of Spigelian hernia observed point out clinical, diagnostic and therapeutic considerations about this rare pathology of abdominal wall. They specify the anatomic characteristics of the region and underline as any diagnostic difficulties are by passed by use of USG and TC imaging for formulation of correct preoperative diagnosis. They confirm as surgical treatment by a correct access isn't different by a normal hernioplasty and guarantee the long term surgical outcome.

  18. Clinics in diagnostic imaging (171)

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    Ooi, Su Kai Gideon; Tan, Tien Jin; Ngu, James Chi Yong

    2016-01-01

    A 46-year-old Chinese woman with a history of cholecystectomy and appendicectomy presented to the emergency department with symptoms of intestinal obstruction. Physical examination revealed central abdominal tenderness but no clinical features of peritonism. Plain radiography of the abdomen revealed a grossly distended large bowel loop with the long axis extending from the right lower abdomen toward the epigastrium, and an intraluminal air-fluid level. These findings were suspicious for an acute caecal volvulus, which was confirmed on subsequent contrast-enhanced computed tomography (CT) of the abdomen and pelvis. CT demonstrated an abnormal positional relationship between the superior mesenteric vein and artery, indicative of an underlying intestinal malrotation. This case highlights the utility of preoperative imaging in establishing the diagnosis of an uncommon cause of bowel obstruction. It also shows the importance of recognising the characteristic imaging features early, so as to ensure appropriate and expedient management, thus reducing patient morbidity arising from complications. PMID:27872936

  19. Serumferritin - diagnostic relevance and clinical usefulness

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    Linkesch, W. (Vienna Univ. (Austria). 2. Medizinische Klinik)

    1984-01-01

    The introduction of a WHO Standard for serumferritin effected a standardisation of different methods, improving quality and security for clinical routine diagnostic purposes. Therefore the clinical evaluation of serumferritin gained even more importance. For evaluation of iron stores of children, pregnant women, population studies, patients on hemodialysis or patients with rheumatoid arthritis low serumferritin values give safe results. In addition serumferritin is of clinical usefulness in monitoring therapy of both iron deficiency and iron overload. Evaluating a single serumferritin value one should consider the total clinical situation of the patient. As some tumors can produce and secrete serumferritin, e.g. acute myeloblastic leukemia, germ cell tumors, malignant melanoma, serumferritin might be helpful in monitoring the malignant disease. The ongoing characterization of tissue isoferritin, especially acidic isoferritin, may eventually lead to a clinically significant diagnostic marker of neoplasia.

  20. Defining the primary research question in veterinary clinical studies.

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    Giuffrida, Michelle A

    2016-09-01

    A thoughtful, clearly defined research question should be the foundation of any clinical trial or research study. The research question helps determine key study methods, and defining a specific research question helps avoid problems with inadequate sample size, inappropriate design, or multiple statistical comparisons. Rationales and strategies for formulating research questions and using them to define study protocols are discussed, with a focus on application in clinical trials.

  1. Translating biological parameters into clinically useful diagnostic tests.

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    Arfken, Cynthia L; Carney, Stuart; Boutros, Nash N

    2009-08-01

    Psychiatry has lagged behind other specialties in developing diagnostic laboratory tests for the purpose of confirming or ruling out a diagnosis. Biological research into the pathophysiology of psychiatric disorders has, however, yielded some highly replicable abnormalities that have the potential for development into clinically useful diagnostic tests. To achieve this goal, a process for systematic translation must be developed and implemented. Building on our previous work, we review a proposed process using four clearly defined steps. We conclude that biological parameters currently face challenges in their pathways to becoming diagnostic tests because of both the premature release and premature abandonment of tests. Attention to a systematic translation process aided by these principles may help to avoid these problems.

  2. Assembling Amperometric Biosensors for Clinical Diagnostics

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    Claudia Marina Lagier

    2007-02-01

    Full Text Available Clinical diagnosis and disease prevention routinely require the assessment ofspecies determined by chemical analysis. Biosensor technology offers several benefits overconventional diagnostic analysis. They include simplicity of use, specificity for the targetanalyte, speed to arise to a result, capability for continuous monitoring and multiplexing,together with the potentiality of coupling to low-cost, portable instrumentation. This workfocuses on the basic lines of decisions when designing electron-transfer-based biosensorsfor clinical analysis, with emphasis on the strategies currently used to improve the deviceperformance, the present status of amperometric electrodes for biomedicine, and the trendsand challenges envisaged for the near future.

  3. [The adequacy of the defining characteristics of the diagnostics "impaired gas exange" and spontaneous ventilation" in asmathic children].

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    Carvalho, Ocilia Maria Costa; da Silva, Viviane Martins; Távora, Rafaela Carolini de Oliveira; Chaves, Daniel Bruno Resende; Beltrão, Beatriz Amorim; Lopes, Marcos Venícios de Oliveira

    2015-01-01

    To determine the diagnostic accuracy measures of defining characteristics of respiratory nursing diagnoses "impaired gas exchange" and "impaired spontaneous ventilation" in asmathics children in emergency department. Observational, descriptive transversal study developed between April and September 2013 in a hospital in northeastern Brazil with a sample of 205 children. Diagnoses were established by nurses trained experts in this field. Measures of sensitivity, specificity, positive and negative value prediction right positive and negative likelihood ratio and diagnostic odds for the defining characteristics identified were calculated. 28.8% of the evaluated children had "impaired gas exchange". Dyspnea, abnormal breathing, tachycardia and hypoxemia had higher frequencies. Hypoxemia presented as clinical feature high sensitivity and specificity. 5.9% of the evaluated children had "impaired spontaneous ventilation" and their most frequent defining characteristics were dyspnea, increased heart rate and decreased SaO2. The increasing use of accessory muscles to breathe presented the best measures of validity for this diagnosis. The hypoxemia and increased use of accessory muscles presented the best measures of the validity respectively to "deterioration in gas exchange" and "impairment of spontaneous ventilation". These characteristics is necessary to provide for adequate definition and use of diagnostics in clinical practice. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  4. Comparison of diagnostic tests in distinct well-defined conditions related to dry eye disease.

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    Monica Alves

    Full Text Available PURPOSE: This study compares signs, symptoms and predictive tools used to diagnose dry eye disease (DED and ocular surface disorders in six systemic well-defined and non-overlapping diseases. It is well known that these tests are problematic because of a lack of agreement between them in identifying these conditions. Accordingly, we provide here a comparative clinical profile analysis of these different diseases. METHODS: A spontaneous and continuous sample of patients with Sjögren's syndrome (SS (n=27, graft-versus-host-disease (GVHD (n=28, Graves orbitopathy (n=28, facial palsy (n=8, diabetes mellitus without proliferative retinopathy (n=14 and glaucoma who chronically received topical drugs preserved with benzalkonium chloride (n=20 were enrolled. Evaluation consisted of a comprehensive protocol encompassing: (1 structured questionnaire - Ocular Surface Disease Index (OSDI; (2 tear osmolarity (TearLab Osmolarity System - Ocusense; (3 tear film break-up time (TBUT; (4 fluorescein and lissamine green staining; (5 Schirmer test and (6 severity grading. RESULTS: One hundred and twenty five patients (aged 48.8 years-old ± 14.1, male:female ratio=0.4 were enrolled in the study, along with 24 age and gender matched controls. Higher scores on DED tests were obtained in Sjögren Syndrome (P<0.05, except for tear film osmolarity that was higher in diabetics (P<0.001 and fluorescein staining, that was higher in facial palsy (P<0.001. TFBUT and OSDI correlated better with other tests. The best combination of diagnostic tests for DED was OSDI, TBUT and Schirmer test (sensitivity 100%, specificity 95% and accuracy 99.3%. CONCLUSIONS: DED diagnostic test results present a broad range of variability among different conditions. Vital stainings and TBUT correlated best with one another whereas the best test combination to detect DED was: OSDI/TBUT/Schirmer.

  5. Defining excellence: next steps for practicing clinicians seeking to prevent diagnostic error

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    Paul N. Foster

    2016-09-01

    Full Text Available The Institute of Medicine (IOM released its report on diagnostic errors in September, 2015. The report highlights the urgency of reducing errors and calls for system-level intervention and changes in our basic clinical interactions. Using the report’s controversial definition of diagnostic error as a starting point, we introduce the issues and the potential impact on practicing physicians. We report a case used to illustrate this in an academic conference. Finally, we turn to the challenge of integrating these ideas into the traditional peer-review process. We argue that the medical community must evolve from understanding diagnostic failures to redesigning the diagnostic process. We should see errors as steps toward diagnostic excellence and reliable processes that minimize the risk of mislabeling and harm.

  6. Three principles to define the success of a diagnostic study could be identified

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    Vach, Werner; Gerke, Oke; Høilund-Carlsen, Poul Flemming

    2012-01-01

    and analyzing diagnostic studies, the criterion to define the success of the study should be clearly prespecified. The results of the statistical approach taken should be interpreted in accordance with this criterion. This ensures coherence of results and prevents unnecessarily large sample sizes. The liberal...

  7. Validity of the Research Diagnostic Criteria for Temporomandibular Disorders Axis I in clinical and research settings.

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    Steenks, M.H.; Wijer, A. de

    2009-01-01

    The lack of standardized diagnostic criteria for defining clinical subtypes of temporomandibular disorders (TMD) was the main motive to create the Research Diagnostic Criteria for TMD (RDC/TMD), which were provided to allow standardization and replication of research into the most common forms of mu

  8. Diagnostic accuracy of consensus diagnostic criteria for frontotemporal dementia in a memory clinic population

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    Y. Pijnenburg (Yolande); J.L. Mulder (Jacqueline); J.C. van Swieten (John); B.M. Uitdehaag (Bernard); M. Stevens (Martijn); P. Scheltens (Philip); C. Jonker (Cees)

    2008-01-01

    textabstractBackground/Aims: The goal of the present study was to evaluate the diagnostic accuracy of the core diagnostic criteria for frontotemporal dementia (FTD) [Neary D, et al: Neurology 1998;51:1546-1554] within a memory clinic population. Methods: The 5 core diagnostic criteria for FTD were o

  9. [Clinical importance and diagnostic methods of minimal hepatic encephalopathy].

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    Stawicka, Agnieszka; Zbrzeźniak, Justyna; Świderska, Aleksandra; Kilisińska, Natalia; Świderska, Magdalena; Jaroszewicz, Jerzy; Flisiak, Robert

    2016-02-01

    Minimal hepatic encephalopathy (MHE) encompasses a number of neuropsychological and neurophysiological disorders in patients suffering from liver cirrhosis, who do not display abnormalities during a medical interview or physical examination. A negative influence of MHE on the quality of life of patients suffering from liver cirrhosis was confirmed, which include retardation of ability of operating motor vehicles and disruption of multiple health-related areas, as well as functioning in the society. The data on frequency of traffic offences and accidents amongst patients diagnosed with MHE in comparison to patients diagnosed with liver cirrhosis without MHE, as well as healthy persons is alarming. Those patients are unaware of their disorder and retardation of their ability to operate vehicles, therefore it is of utmost importance to define this group. The term minimal hepatic encephalopathy (formerly "subclinical" encephalopathy) erroneously suggested the unnecessity of diagnostic and therapeutic procedures in patients with liver cirrhosis. Diagnosing MHE is an important predictive factor for occurrence of overt encephalopathy - more than 50% of patients with this diagnosis develop overt encephalopathy during a period of 30 months after. Early diagnosing MHE gives a chance to implement proper treatment which can be a prevention of overt encephalopathy. Due to continuing lack of clinical research there exist no commonly agreed-upon standards for definition, diagnostics, classification and treatment of hepatic encephalopathy. This article introduces the newest findings regarding the importance of MHE, scientific recommendations and provides detailed descriptions of the most valuable diagnostic methods.

  10. Infectious myocarditis (Clinic, diagnostics, principles of treatment

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    Yu. P. Finogeev

    2016-01-01

    Full Text Available Infective myocarditis can be considered as a case of myocardial damage caused by different infectious agents. Traditionally discusses the questions of diagnostics and treatment infectious myocarditis. The paper has repeatedly stressed the difficulty of clinical diagnosis, and the laboriousness and economic costs of laboratory tests and additional researches. Endomyocardial biopsy findings remain the gold standard for unequivocally establishing the diagnosis. However, it is technically extremely invasive test and can be performed only in specialized cardiology centers. The paper analyzes in detail not only own materials, but also results of researches published in numerous domestic and foreign sources of literature. Publication of «Infectious myocarditis» is necessary due to the fact that patients with a diagnosis of «Myocarditis » account for 11% of all cardiovascular disease in the world. Article is timely and necessary for many professionals, senior students of medical universities.

  11. Orthogonal NGS for High Throughput Clinical Diagnostics.

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    Chennagiri, Niru; White, Eric J; Frieden, Alexander; Lopez, Edgardo; Lieber, Daniel S; Nikiforov, Anastasia; Ross, Tristen; Batorsky, Rebecca; Hansen, Sherry; Lip, Va; Luquette, Lovelace J; Mauceli, Evan; Margulies, David; Milos, Patrice M; Napolitano, Nichole; Nizzari, Marcia M; Yu, Timothy; Thompson, John F

    2016-04-19

    Next generation sequencing is a transformative technology for discovering and diagnosing genetic disorders. However, high-throughput sequencing remains error-prone, necessitating variant confirmation in order to meet the exacting demands of clinical diagnostic sequencing. To address this, we devised an orthogonal, dual platform approach employing complementary target capture and sequencing chemistries to improve speed and accuracy of variant calls at a genomic scale. We combined DNA selection by bait-based hybridization followed by Illumina NextSeq reversible terminator sequencing with DNA selection by amplification followed by Ion Proton semiconductor sequencing. This approach yields genomic scale orthogonal confirmation of ~95% of exome variants. Overall variant sensitivity improves as each method covers thousands of coding exons missed by the other. We conclude that orthogonal NGS offers improvements in variant calling sensitivity when two platforms are used, better specificity for variants identified on both platforms, and greatly reduces the time and expense of Sanger follow-up, thus enabling physicians to act on genomic results more quickly.

  12. Clinically based diagnostic wax-up for optimal esthetics: the diagnostic mock-up.

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    Simon, Harel; Magne, Pascal

    2008-05-01

    A diagnostic wax-up can enhance the predictability of treatment by modeling the desired result in wax prior to treatment. It is critical to correlate the wax-up to the patient to avoid a result that appears optimal on the casts but does not correspond to the patient's smile. This article reviews the applications and techniques for clinically based diagnostic wax-up, and focuses on the diagnostic mock-up philosophy as a means to obtain predictable esthetics and function.

  13. Autoimmune Hepatitis: Clinical Manifestations and Diagnostic Criteria

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    Ian G Mcfarlane

    2001-01-01

    Full Text Available In 1998, the International Autoimmune Hepatitis Group - a panel of 40 hepatologists and hepatopathologists from 17 countries who have a particular interest in autoimmune hepatitis (AIH - undertook a review, in light of subsequent experience, of the descriptive criteria and diagnostic scoring system that it had proposed in 1993 for the diagnosis of AIH. This review (published in 1999 noted that the original descriptive criteria appeared to be quite robust and required only relatively minor modifications to bring them up to date with developments and experience in diagnostic modalities for liver disease in general. Analysis of published data on the application of the original criteria in nearly 1000 patients revealed that the diagnostic scoring system had an overall diagnostic accuracy of 89.8%, with a sensitivity of 98.0%. Specificity for excluding definite AIH in patients with chronic viral hepatitis and circulating autoantibodies or patients with overlapping cholestatic syndromes was 98% to 100%, but specificity for excluding probable AIH in these disorders ranged from only 60% to 80%. Modifications, including adjustments to the weightings against biochemical and histological cholestatic features, have been made to the scoring system to improve its specificity.

  14. The utility and validity of current diagnostic procedures for defining temporomandibular disorder patients.

    Science.gov (United States)

    Clark, G T; Delcanho, R E; Goulet, J P

    1993-08-01

    This paper describes the evolution of different concepts of classifying and defining Temporomandibular Disorders (TMD) for both clinical and research settings. The literature is reviewed with respect to the utility and validity of the different questionnaire and examination procedures that have been used to assess TMD patients. The presented view is that many of these procedures have not been validated, that there is a lack of standardization in the use of the procedures themselves, and that an ideal method of classifying this broad group of patients into better-defined subgroups has not yet been developed. More standardized and better-defined research by trained and calibrated researchers is needed worldwide to elucidate these subgroups so that a better and widely agreed upon research classification system can be developed for widespread use. It also seems clear that as research requirements for defining TMD patient subgroups become more stringent over time, it may not be practical for the clinician to implement them on a day-to-day basis in his or her practice. As such, a practical utilitarian definition of the common subtype of TMD patients is also needed which parallels any research grouping, so that data from research are valuable and generalizable to the practicing clinician.

  15. Clinical presentation and diagnostic difficulties in amoebic liver abscess

    Directory of Open Access Journals (Sweden)

    Kaushal D Suthar

    2014-07-01

    Full Text Available Background Amoebic liver abscess (ALA is a common and major health problem in India. ALA has a highly variable presentation, causing diagnostic difficulties. Early and correct diagnosis of Amoebic liver abscess is essential, because delayed diagnosis and treatment leads to complications which has significantly higher morbidity and mortality than uncomplicated disease. Objective To find out different clinical presentation and its differential diagnosis in order to establish early diagnosis of ALA. Patients and Methods This retrospective, observational study was carried out in the Department of Surgery during February 2010 to May 2013. Inclusion criteria were defined. The data of patients were enrolled according to variables in performa predesigned for this study and analyzed. Results 187 cases of ALA were enrolled with male to female ratio of 2.8:1. Right hypochondrial pain occurred in 69.52%, left hypochondrial pain occurred in 6.41%, pain radiating to tip of right shoulder in 8.02%, fever in 86.64%, co-incident diarrhea in 36.37% and concurrent pulmonary symptoms in 12.84%. The most common signs were tender hepatomegaly in 73.74% and jaundice in 17.65%. 3.20% patients had past history of aspiration of ALA. 23.52% patients had ruptured abscess. 11.12% were due to delayed diagnosis and 1.60% was ruptured despite treatment. Mortality rate was 3.20% amongst patients with ruptured ALA. Diabetes, hypertension, AIDS and alcoholism were commonly associated co morbidities. Right lobe (82.36% is commonly involved than left lobe and single abscess (83.42% was more common than multiple abscess. Diagnosis was missed in 30.48% patients particularly those with atypical presentations. Ultrasonography, Computerized tomography (CT scan with diagnostic aspiration were useful in diagnosing ALA. Conclusion The typical features of ALA, which include pain, fever and tender hepatomegaly, are nonspecific. ALA may be missed because of variable clinical features and

  16. The potential advantages of digital PCR for clinical virology diagnostics.

    Science.gov (United States)

    Hall Sedlak, Ruth; Jerome, Keith R

    2014-05-01

    Digital PCR (dPCR), a new nucleic acid amplification technology, offers several potential advantages over real-time or quantitative PCR (qPCR), the current workhorse of clinical molecular virology diagnostics. Several studies have demonstrated dPCR assays for human cytomegalovirus or HIV, which give more precise and reproducible results than qPCR assays without sacrificing sensitivity. Here we review the literature comparing dPCR and qPCR performance in viral molecular diagnostic assays and offer perspective on the future of dPCR in clinical virology diagnostics.

  17. EAACI taskforce position paper: evidence for autoimmune urticaria and proposal for defining diagnostic criteria.

    Science.gov (United States)

    Konstantinou, G N; Asero, R; Ferrer, M; Knol, E F; Maurer, M; Raap, U; Schmid-Grendelmeier, P; Skov, P S; Grattan, C E H

    2013-01-01

    An autoimmune subset of chronic spontaneous urticaria is increasingly being recognized internationally, based on laboratory and clinical evidence that has accrued over the last 20 years. This evidence has been reviewed by a taskforce of the Dermatology section of the European Academy of Allergy and Clinical Immunology. Functional autoantibodies in chronic urticaria (CU) patient sera have been demonstrated against IgE and FcεRIα by basophil and mast cell histamine release assays and by basophil activation assays. Antibody specificity has been confirmed by immunoassay, but there is a poor correlation between functionality and immunoreactivity. Approximately 25% of CU patients have a positive basophil histamine release assay and show autoreactivity (a positive autologous serum skin test), whereas 50% are negative regarding both. Functionality of CU sera appears to be complement dependent on mast cells but not exclusively on basophils. Basophil activation by CU sera is predominantly restricted to IgG1 and IgG3 subclasses. Circumstantial evidence for CU being an autoimmune disease comes from an observed association with other autoimmune diseases, a strong association between serum functionality and HLA-DR4 haplotype and the good response of CU patients to immunotherapies. It was proposed that a study should be undertaken to prospectively validate potentially relevant clinical criteria (from the history, examination and routinely available clinical investigations) against a new 'gold standard' for the diagnosis of ACU (positive autoreactivity, functional bioassay and immunoassay) to define preliminary criteria sets for the diagnosis of ACU based on clinical and laboratory features with highest individual sensitivity and specificity.

  18. [Celiac disease : Pathogenesis, clinics, epidemiology, diagnostics, therapy].

    Science.gov (United States)

    Schuppan, Detlef

    2016-07-01

    Celiac disease is induced by the consumption of gluten containing cereals (wheat, spelt, barley, rye). With a prevalence of ~ 1 %, it is the most common non-infectious chronic inflammatory intestinal disease worldwide. It manifests in all age groups, either classically with abdominal pain, diarrhoea and growth failure or weight loss, more commonly with indirect consequences of malabsorption, such as anaemia and osteoporosis, or with associated autoimmune diseases like type 1 diabetes, autoimmune thyroiditis or dermatitis herpetiformis. The pathogenesis of celiac disease is well explored. Gluten, the cereal storage protein, is not completely digested and reaches the intestinal mucosa where it activates inflammatory T cells, which cause atrophy of the resorptive villi. This T‑cell activation requires a genetic predisposition (the molecules HLA-DQ2 or -DQ8 on antigen-presenting immune cells). Moreover, the enzyme tissue transglutaminase (TG2) which is released in the mucosa increases the immunogenicity of the gluten peptides by a deamidation reaction. The test for serum antibodies to the autoantigen TG2 is one of the best diagnostic markers in medicine, which in combination with endoscopically obtained biopsies, secures the diagnosis of celiac disease. Despite these tools celiac disease is severely underdiagnosed, with 80-90 % of those affected being undetected. The untreated condition can lead to grave complications. These include the consequences of malabsorption, cancers (especially intestinal T‑cell lymphoma), and likely also the promotion of autoimmune diseases. The therapy of celiac disease, a strict gluten-free diet, is difficult to maintain and not always effective. Alternative, supporting pharmacological therapies are urgently needed and are currently in development.

  19. PERICARDITIS: ETIOLOGY, CLASSIFICATION, CLINIC, DIAGNOSTICS, TREATMENT. PART I

    Directory of Open Access Journals (Sweden)

    A.B. Sugak

    2009-01-01

    Full Text Available Pericarditis is relatively widespread inflammatory disease of pericardium. Symptoms of this disease was described already in the beginning of XIXth century, but it's clinical diagnostics in patient's lifetime is difficult up to now. Majority of acute pericardites have favorable clinical course, but some of them have complications (cardiac tamponade and constrictive pericarditis, which are potentially lethal. Development of non-invasive radiation methods of heart visualization technologies improved diagnostics of pericarditis in last years. Besides, achievements of immunology, virology and microbiology allowed widening of data of etiology and pathogenesis of pericardial diseases. Present lecture gives modern data of etiology, classification, clinical signs, diagnostics and treatment of pericarditis. The description of separate specific types of pericardites is given.Key words: children, pericarditis.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2009;8(2:77-84

  20. Peripheral cementifying fibroma: a clinical diagnostic dilemma.

    Science.gov (United States)

    Choubey, Shikha; Banda, Naveen Reddy; Banda, Vanaja Reddy; Vyawahare, Saket

    2013-05-13

    The peripheral ossifying fibroma (POF) is a reactive gingival overgrowth occurring frequently in the anterior maxilla. It originates in the cells of the periodontal ligament and is more common in children and young adults. In the current article a case of gingival over growth, which was thought to be puberty-induced gingivitis was seen in the lower anterior maxillary gingiva. Histology of the excised tissue showed cellular, fibrous connective tissue stroma with calcified osseous calcifications indicative of POF. The definitive diagnosis is established only by histological examination, which revealed the presence of highly cellular connective tissue with focal calcifications. Surgery is the treatment of choice, though the recurrence rate can reach 20% in case of POF. After histological confirmation the recall and clinical evaluation protocol of POF varies due to its increased recurrence rate, which the general dentist should be aware of.

  1. Shifting Diagnostic Systems for Defining Intellectual Disability in Death Penalty Cases: Hall vs. Florida

    Science.gov (United States)

    Mukherjee, Mina; Westphal, Alexander

    2015-01-01

    The case of Hall vs. Florida tested Florida's so called "bright line rule" in determining intellectual disability in capital cases. The Supreme Court Decision reflects a more general trend from categorical to dimensional approaches in psychiatric diagnostic systems.

  2. Confetti-like Sparing: A Diagnostic Clinical Feature of Melasma.

    Science.gov (United States)

    Wu, Douglas C; Fitzpatrick, Richard E; Goldman, Mitchel P

    2016-02-01

    Diagnostic uncertainty when a patient presents with melasma-like Undings can lead to suboptimal treatment and inaccurate prognostic expectations. In this study, the authors present a unique clinical feature of melasma that they term the "Fitzpatrick macule" and test its Utility in establishing diagnostic certainty. The "Fitzpatrick macule" is a confetti-like macule of regularly pigmented skin located within a larger patch of melasma hyperpigmentation. To test its diagnostic Utility, the authors compared clinical photography of known cases of melasma with common mimickers, such as poikiloderma of Civatte and solar lentiginosis, and determined the positivity rate of the Fitzpatrick macule in each scenario. Their results show that 89.1 percent of clinical photographs of melasma were positive for the presence of Fitzpatrick macules compared to 1.1 percent that were negative. In contrast, 37.5 and 56.3 percent of clinical photographs of poikiloderma of Civatte were positive and negative for Fitzpatrick macules, respectively. Solar lentiginosis showed a 5.6 percent positivity and a 77.8 percent negativity for Fitzpatrick macules. The sensitivity and specificity of Fitzpatrick macules for melasma was 99 and 83 percent, respectively. In summary, the authors report a highly sensitive and specific clinical feature of melasma. In cases of diagnostic uncertainty, the presence of Fitzpatrick macules may aid in establishing a diagnosis of melasma.

  3. Hashimoto thyroiditis: clinical and diagnostic criteria.

    Science.gov (United States)

    Caturegli, P; De Remigis, A; Rose, N R

    2014-01-01

    Hashimoto thyroiditis (HT), now considered the most common autoimmune disease, was described over a century ago as a pronounced lymphoid goiter affecting predominantly women. In addition to this classic form, several other clinico-pathologic entities are now included under the term HT: fibrous variant, IgG4-related variant, juvenile form, Hashitoxicosis, and painless thyroiditis (sporadic or post-partum). All forms are characterized pathologically by the infiltration of hematopoietic mononuclear cells, mainly lymphocytes, in the interstitium among the thyroid follicles, although specific features can be recognized in each variant. Thyroid cells undergo atrophy or transform into a bolder type of follicular cell rich in mitochondria called Hürthle cell. Most HT forms ultimately evolve into hypothyroidism, although at presentation patients can be euthyroid or even hyperthyroid. The diagnosis of HT relies on the demonstration of circulating antibodies to thyroid antigens (mainly thyroperoxidase and thyroglobulin) and reduced echogenicity on thyroid sonogram in a patient with proper clinical features. The treatment remains symptomatic and based on the administration of synthetic thyroid hormones to correct the hypothyroidism as needed. Surgery is performed when the goiter is large enough to cause significant compression of the surrounding cervical structures, or when some areas of the thyroid gland mimic the features of a nodule whose cytology cannot be ascertained as benign. HT remains a complex and ever expanding disease of unknown pathogenesis that awaits prevention or novel forms of treatment.

  4. 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...... advantage of targeted NGS is that multiple disease-specific genes can easily be sequenced simultaneously, which is favorable in genetic heterogeneous diseases. Prior to implementation in our diagnostic setting, we aimed to assess the sensitivity and specificity of targeted NGS by sequencing a collection......, 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...

  5. The clinical inadequacy of the DSM-5 classification of somatic symptom and related disorders: an alternative trans-diagnostic model.

    Science.gov (United States)

    Cosci, Fiammetta; Fava, Giovanni A

    2016-08-01

    The Diagnostic and Statistical of Mental Disorders, Fifth Edition (DSM-5) somatic symptom and related disorders chapter has a limited clinical utility. In addition to the problems that the single diagnostic rubrics and the deletion of the diagnosis of hypochondriasis entail, there are 2 major ambiguities: (1) the use of the term "somatic symptoms" reflects an ill-defined concept of somatization and (2) abnormal illness behavior is included in all diagnostic rubrics, but it is never conceptually defined. In the present review of the literature, we will attempt to approach the clinical issue from a different angle, by introducing the trans-diagnostic viewpoint of illness behavior and propose an alternative clinimetric classification system, based on the Diagnostic Criteria for Psychosomatic Research.

  6. Social Class and Diagnostic Suggestion as Variables in Clinical Judgment

    Science.gov (United States)

    Di Nardo, Peter A.

    1975-01-01

    Sixty graduate students in clinical psychology made diagnostic assessments of one of two staged interviews identical in content but enacted to convey either a middle- or lower-class impression. The results indicate the existence of a class bias and suggest a status differential between psychologists and psychiatrists. (Author)

  7. Teaching perceptual skills in clinical diagnostics using digital media

    NARCIS (Netherlands)

    Scheiter, Katharina; Jarodzka, Halszka

    2011-01-01

    Scheiter, K., & Jarodzka, H. (2011, May). Teaching perceptual skills in clinical diagnostics using digital media. Presentation at the 2nd International Conference “Research in Medical Education”: Shaping diamonds from bench to bedside, Universität Tübingen.

  8. Developments and Clinical Applications in Diagnostic Molecular Microbiology

    NARCIS (Netherlands)

    T. Schuurman (Timothy)

    2008-01-01

    textabstractDiagnostic Microbiology probably started in the late 17th century when the Dutch scientist Antoni van Leeuwenhoek made microorganisms visible for the first time. Since then, 3 major revolutions have taken place, all of which had a major impact on the field of clinical microbiology.

  9. Developments and Clinical Applications in Diagnostic Molecular Microbiology

    NARCIS (Netherlands)

    T. Schuurman (Timothy)

    2008-01-01

    textabstractDiagnostic Microbiology probably started in the late 17th century when the Dutch scientist Antoni van Leeuwenhoek made microorganisms visible for the first time. Since then, 3 major revolutions have taken place, all of which had a major impact on the field of clinical microbiology.

  10. Teaching perceptual skills in clinical diagnostics using digital media

    NARCIS (Netherlands)

    Scheiter, Katharina; Jarodzka, Halszka

    2011-01-01

    Scheiter, K., & Jarodzka, H. (2011, May). Teaching perceptual skills in clinical diagnostics using digital media. Presentation at the 2nd International Conference “Research in Medical Education”: Shaping diamonds from bench to bedside, Universität Tübingen.

  11. PERICARDITIS: ETIOLOGY, CLASSIFICATION, CLINIC, DIAGNOSTICS, TREATMENT. PART I

    OpenAIRE

    A.B. Sugak

    2009-01-01

    Pericarditis is relatively widespread inflammatory disease of pericardium. Symptoms of this disease was described already in the beginning of XIXth century, but it's clinical diagnostics in patient's lifetime is difficult up to now. Majority of acute pericardites have favorable clinical course, but some of them have complications (cardiac tamponade and constrictive pericarditis), which are potentially lethal. Development of non-invasive radiation methods of heart visualization technologies im...

  12. Palmar hyperhidrosis: clinical, pathophysiological, diagnostic and therapeutic aspects*

    Science.gov (United States)

    Romero, Flávio Ramalho; Haddad, Gabriela Roncada; Miot, Hélio Amante; Cataneo, Daniele Cristina

    2016-01-01

    Abstract Palmar hyperhidrosis affects up to 3% of the population and inflict significant impact on quality of life. It is characterized by chronic excessive sweating, not related to the necessity of heat loss. It evolves from a localized hyperactivity of the sympathetic autonomic system and can be triggered by stressful events. In this study, the authors discuss clinical findings, pathophysiological, diagnostic and therapeutic issues (clinical and surgical) related to palmar hyperhidrosis. PMID:28099590

  13. Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes

    Science.gov (United States)

    Matsuo, Hirotaka; Yamamoto, Ken; Nakaoka, Hirofumi; Nakayama, Akiyoshi; Sakiyama, Masayuki; Chiba, Toshinori; Takahashi, Atsushi; Nakamura, Takahiro; Nakashima, Hiroshi; Takada, Yuzo; Danjoh, Inaho; Shimizu, Seiko; Abe, Junko; Kawamura, Yusuke; Terashige, Sho; Ogata, Hiraku; Tatsukawa, Seishiro; Yin, Guang; Okada, Rieko; Morita, Emi; Naito, Mariko; Tokumasu, Atsumi; Onoue, Hiroyuki; Iwaya, Keiichi; Ito, Toshimitsu; Takada, Tappei; Inoue, Katsuhisa; Kato, Yukio; Nakamura, Yukio; Sakurai, Yutaka; Suzuki, Hiroshi; Kanai, Yoshikatsu; Hosoya, Tatsuo; Hamajima, Nobuyuki; Inoue, Ituro; Kubo, Michiaki; Ichida, Kimiyoshi; Ooyama, Hiroshi; Shimizu, Toru; Shinomiya, Nariyoshi

    2016-01-01

    Objective Gout, caused by hyperuricaemia, is a multifactorial disease. Although genome-wide association studies (GWASs) of gout have been reported, they included self-reported gout cases in which clinical information was insufficient. Therefore, the relationship between genetic variation and clinical subtypes of gout remains unclear. Here, we first performed a GWAS of clinically defined gout cases only. Methods A GWAS was conducted with 945 patients with clinically defined gout and 1213 controls in a Japanese male population, followed by replication study of 1048 clinically defined cases and 1334 controls. Results Five gout susceptibility loci were identified at the genome-wide significance level (p<5.0×10−8), which contained well-known urate transporter genes (ABCG2 and SLC2A9) and additional genes: rs1260326 (p=1.9×10−12; OR=1.36) of GCKR (a gene for glucose and lipid metabolism), rs2188380 (p=1.6×10−23; OR=1.75) of MYL2-CUX2 (genes associated with cholesterol and diabetes mellitus) and rs4073582 (p=6.4×10−9; OR=1.66) of CNIH-2 (a gene for regulation of glutamate signalling). The latter two are identified as novel gout loci. Furthermore, among the identified single-nucleotide polymorphisms (SNPs), we demonstrated that the SNPs of ABCG2 and SLC2A9 were differentially associated with types of gout and clinical parameters underlying specific subtypes (renal underexcretion type and renal overload type). The effect of the risk allele of each SNP on clinical parameters showed significant linear relationships with the ratio of the case–control ORs for two distinct types of gout (r=0.96 [p=4.8×10−4] for urate clearance and r=0.96 [p=5.0×10−4] for urinary urate excretion). Conclusions Our findings provide clues to better understand the pathogenesis of gout and will be useful for development of companion diagnostics. PMID:25646370

  14. Validation of the clinical diagnostic criteria for temporomandibular disorders for the diagnostic subgroup of degenerative joint disease.

    Science.gov (United States)

    Brandlmaier, I; Grüner, S; Rudisch, A; Bertram, S; Emshoff, R

    2003-04-01

    Research is needed to assess the validity of the Clinical Diagnostic Criteria for Temporomandibular Disorders (CDC/TMD). The purpose of this study was to test the reliability of the clinical diagnosis of temporomandibular joint (TMJ) degenerative joint disease (DJD) as compared with the magnetic resonance imaging (MRI) 'gold standard'. The TMJ DJD group comprised 48 joints in 24 consecutive patients who were assigned a clinical bilateral diagnosis of TMJ DJD. The TMJ non-DJD group consisted of 82 joints in 41 consecutive patients without a TMJ-related diagnosis of TMD. Bilateral sagittal and coronal MR images were obtained subsequently to establish the corresponding diagnosis of degenerative joint changes. An MRI diagnosis of osteoarthrosis (OA) was defined by the presence of flattening, subchondral sclerosis, surface irregularities, and erosion of the condyle or presence of condylar deformities associated with flattening, subchondral sclerosis, surface irregularities, erosion and osteophyte. For the CDC/TMD interpretations, the positive predictive of DJD for OA was 67%, and for the presence of degenerative joint changes 88%. The overall diagnostic agreement for DJD was 44.6% with a corresponding K-value of 0.01. Most of the disagreement was due to false-negative interpretations of asymptomatic joints. The results suggest CDC/TMD to be predictive for degenerative joint changes but insufficient for determination of OA. Patients assigned a clinical TMJ-related diagnosis of DJD may need to be supplemented by evidence from MRI to determine the presence or absence of OA.

  15. An approach to 'dynamic--DDD (defined daily dose) monitoring' to reduce adverse clinical outcomes and increase patient safety: information repositories and event triggers in clinical practice.

    Science.gov (United States)

    Eryilmaz, Esat N

    2011-01-01

    The goal of every effort and actions/interventions in almost all healthcare settings throughout the world's health systems -primary care, inpatient, outpatient encounters, diagnostic and therapeutic interventions, peri-operative settings- is and has been to achieve a well defined outcome (a kind of improvement in health status of the patient under consideration, an observable and significant change(s) in selected set(s) of clinical parameters confirmed by laboratory results and pathology findings, improvements in clinical outcomes). Clinical inefficiencies, in this context, should be addressed very systematically and scientifically. This is achieved through a continuously monitoring approach to adverse drug events based on information repositories and evidence-based rule sets. For monitoring drug-related outcomes and clinical outcomes in general, the concept of DDD (Defined Daily Dose) compliance is explained in this article to eliminate and avoid adverse clinical outcomes.

  16. Translating RNA sequencing into clinical diagnostics: opportunities and challenges.

    Science.gov (United States)

    Byron, Sara A; Van Keuren-Jensen, Kendall R; Engelthaler, David M; Carpten, John D; Craig, David W

    2016-05-01

    With the emergence of RNA sequencing (RNA-seq) technologies, RNA-based biomolecules hold expanded promise for their diagnostic, prognostic and therapeutic applicability in various diseases, including cancers and infectious diseases. Detection of gene fusions and differential expression of known disease-causing transcripts by RNA-seq represent some of the most immediate opportunities. However, it is the diversity of RNA species detected through RNA-seq that holds new promise for the multi-faceted clinical applicability of RNA-based measures, including the potential of extracellular RNAs as non-invasive diagnostic indicators of disease. Ongoing efforts towards the establishment of benchmark standards, assay optimization for clinical conditions and demonstration of assay reproducibility are required to expand the clinical utility of RNA-seq.

  17. Clinical utility of diagnostic guidelines and putative biomarkers in lymphangioleiomyomatosis

    Directory of Open Access Journals (Sweden)

    Chang William YC

    2012-04-01

    Full Text Available Abstract Background Lymphangioleiomyomatosis is a rare disease occurring almost exclusively in women. Diagnosis often requires surgical biopsy and the clinical course varies between patients with no predictors of progression. We evaluated recent diagnostic guidelines, clinical features and serum biomarkers as diagnostic and prognostic tools. Methods Serum vascular endothelial growth factor-D (VEGF-D, angiotensin converting enzyme (ACE, matrix metalloproteinases (MMP -2 and -9, clinical phenotype, thoracic and abdominal computerised tomography, lung function and quality of life were examined in a cohort of 58 patients. 32 healthy female controls had serum biomarkers measured. Results Serum VEGF-D, ACE and total MMP-2 levels were elevated in patients. VEGF-D was the strongest discriminator between patients and controls (median = 1174 vs. 332 pg/ml p  Conclusions Combining ERS criteria and serum VEGF-D reduces the need for lung biopsy in LAM. VEGF-D was associated with lymphatic disease but not lung function.

  18. Dose the reporting quality of diagnostic test accuracy studies, as defined by STARD 2015, affect citation?

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Young Jun; Chung, Mi Sun; Koo, Hyun Jung; Park, Ji Eun; Yoon, Hee Mang; Park, Seong Ho [Dept. of Radiology and Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul (Korea, Republic of)

    2016-09-15

    To determine the rate with which diagnostic test accuracy studies that are published in a general radiology journal adhere to the Standards for Reporting of Diagnostic Accuracy Studies (STARD) 2015, and to explore the relationship between adherence rate and citation rate while avoiding confounding by journal factors. All eligible diagnostic test accuracy studies that were published in the Korean Journal of Radiology in 2011–2015 were identified. Five reviewers assessed each article for yes/no compliance with 27 of the 30 STARD 2015 checklist items (items 28, 29, and 30 were excluded). The total STARD score (number of fulfilled STARD items) was calculated. The score of the 15 STARD items that related directly to the Quality Assessment of Diagnostic Accuracy Studies (QUADAS)-2 was also calculated. The number of times each article was cited (as indicated by the Web of Science) after publication until March 2016 and the article exposure time (time in months between publication and March 2016) were extracted. Sixty-three articles were analyzed. The mean (range) total and QUADAS-2-related STARD scores were 20.0 (14.5–25) and 11.4 (7–15), respectively. The mean citation number was 4 (0–21). Citation number did not associate significantly with either STARD score after accounting for exposure time (total score: correlation coefficient = 0.154, p = 0.232; QUADAS-2-related score: correlation coefficient = 0.143, p = 0.266). The degree of adherence to STARD 2015 was moderate for this journal, indicating that there is room for improvement. When adjusted for exposure time, the degree of adherence did not affect the citation rate.

  19. Verification and validation of diagnostic laboratory tests in clinical virology.

    Science.gov (United States)

    Rabenau, Holger F; Kessler, Harald H; Kortenbusch, Marhild; Steinhorst, Andreas; Raggam, Reinhard B; Berger, Annemarie

    2007-10-01

    This review summarizes major issues of verification and validation procedures and describes minimum requirements for verification and validation of diagnostic assays in clinical virology including instructions for CE/IVD-labeled as well as for self-developed ("home-brewed") tests or test systems. It covers techniques useful for detection of virus specific antibodies, for detection of viral antigens, for detection of viral nucleic acids, and for isolation of viruses on cell cultures in the routine virology laboratory.

  20. Saliva-based biosensors: noninvasive monitoring tool for clinical diagnostics.

    Science.gov (United States)

    Malon, Radha S P; Sadir, Sahba; Balakrishnan, Malarvili; Córcoles, Emma P

    2014-01-01

    Saliva is increasingly recognised as an attractive diagnostic fluid. The presence of various disease signalling salivary biomarkers that accurately reflect normal and disease states in humans and the sampling benefits compared to blood sampling are some of the reasons for this recognition. This explains the burgeoning research field in assay developments and technological advancements for the detection of various salivary biomarkers to improve clinical diagnosis, management, and treatment. This paper reviews the significance of salivary biomarkers for clinical diagnosis and therapeutic applications, with focus on the technologies and biosensing platforms that have been reported for screening these biomarkers.

  1. Saliva-Based Biosensors: Noninvasive Monitoring Tool for Clinical Diagnostics

    Directory of Open Access Journals (Sweden)

    Radha S. P. Malon

    2014-01-01

    Full Text Available Saliva is increasingly recognised as an attractive diagnostic fluid. The presence of various disease signalling salivary biomarkers that accurately reflect normal and disease states in humans and the sampling benefits compared to blood sampling are some of the reasons for this recognition. This explains the burgeoning research field in assay developments and technological advancements for the detection of various salivary biomarkers to improve clinical diagnosis, management, and treatment. This paper reviews the significance of salivary biomarkers for clinical diagnosis and therapeutic applications, with focus on the technologies and biosensing platforms that have been reported for screening these biomarkers.

  2. Clinical guidelines development and usage: a critical insight and literature review: thyroid disease diagnostic algorithms.

    Science.gov (United States)

    Murgić, Jure; Salopek, Daniela; Prpić, Marin; Jukić, Tomislav; Kusić, Zvonko

    2008-12-01

    Clinical guidelines have been increasingly used in medicine. They represent a system of recommendations for the conduction of specific procedures used in fields from public health to different diagnostic and therapeutic procedures in clinical medicine. Guidelines are designed to facilitate to medical practitioners the adoption, evaluation and application of an increasing body of evidence and arising number of expert opinions regarding the presently best treatment and to help in delivering proper decision for the management of a patient or condition. Clinical guidelines represent a part of complementary activity by which research is implemented into praxis, standards are defined and clinical excellence is promoted in all health care fields. There are specific conditions which quality guidelines should meet. First of all, they need to be founded on comprehensive literature review, apart from clinical studies and trials in the target field. Also, there are more systems for analyzing and grading the strength of clinical evidence and the level of recommendation emerging from it. Algorithms are used to organize and summarize guidelines. The algorithm itself has a form of an informatic record and a logical flow. Algorithms, especially in case of clinical uncertainty, must be used for the improvement of health care, increasing it's availability and integration of the newest scientific knowledge. They should have an important role in the health care rationalisation, fight against non-rational diagnostics manifested as diagnostic procedures with no clinical indications, it's unnecessary repetition and wrong sequence. Several diagnostic algorithms used in the field of thyroid diseases are presented, since they have been proved to be of great use.

  3. Gold Nanoparticles and Nanocomposites in Clinical Diagnostics Using Electrochemical Methods

    Directory of Open Access Journals (Sweden)

    Pranjal Chandra

    2013-01-01

    Full Text Available Progress and development in clinical diagnostics certainly focus upon the advances in the nanomaterials, particularly gold nanoparticles (AuNPs that offer promise to solve the biocompatible and sensitive detection systems. This paper focuses on the recent application of AuNPs in clinical diagnosis. Various important methods of AuNPs synthesis and their application in clinical detection of various biomolecules using electrochemical detection methods have been described. AuNPs alone and in various composites are also described based on the various biosensors design recently published for the detection of cancer biomarkers, proteins, bacteria, and cancer cells. The effect of AuNPs type and size in clinical detection has also been briefly illustrated.

  4. Pyrosequencing for EGFR mutation detection: diagnostic accuracy and clinical implications.

    Science.gov (United States)

    Sahnane, Nora; Gueli, Rossana; Tibiletti, Maria G; Bernasconi, Barbara; Stefanoli, Michele; Franzi, Francesca; Pinotti, Graziella; Capella, Carlo; Furlan, Daniela

    2013-12-01

    EGFR-activating mutations predict responsiveness to EGFR tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer (NSCLC) patients. Mutation screening is crucial to support therapeutic decisions and is commonly conducted using dideoxy sequencing, although its sensitivity is suboptimal in clinical settings. To evaluate the diagnostic performance of pyrosequencing and dideoxy sequencing, we examined EGFR mutation status in a retrospective cohort of 53 patients with NSCLCs clinically selected for TKI therapy and whose clinical outcome was available. Moreover, pyrosequencing quantitative results were compared with EGFR amplification data. EGFR mutations were investigated by pyrosequencing and by dideoxy sequencing. Detection rates of both methods were determined by titration assays using NCI-H1975 and HCC-827 cell lines. Increased EGFR copy number was assessed by fluorescence in situ hybridization (FISH). Pyrosequencing showed a higher detection rate than dideoxy sequencing. Tumor control rate of cases with mutant and wild-type EGFR was 86% and 29%, respectively. EGFR amplification was significantly associated with EGFR mutation and a positive correlation between high percentages of mutant alleles and clinical response to TKI was observed. We concluded that pyrosequencing is more sensitive than dideoxy sequencing in mutation screening for EGFR mutations. Detection rate of dideoxy sequencing was suboptimal when low frequencies of mutant alleles or low tumor cell contents were observed. Pyrosequencing enables quantification of mutant alleles that correlates well with increased EGFR copy number assessed by FISH. Pyrosequencing should be used in molecular diagnostic of NSCLC to appropriately select patients who are likely to benefit from TKI therapy.

  5. Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation

    NARCIS (Netherlands)

    Wolthuis, D.F.; Janssen, M.C; Cassiman, D.; Lefeber, D.J.; Morava-Kozicz, E.

    2014-01-01

    Congenital disorders of N-glycosylation (CDG) form a rapidly growing group of more than 20 inborn errors of metabolism. Most patients are identified at the pediatric age with multisystem disease. There is no systematic review on the long-term outcome and clinical presentation in adult patients. Here

  6. Clinical approach to obscure GI bleeding - Diagnostic testing and management

    Directory of Open Access Journals (Sweden)

    Prashanth Prabakaran

    2013-01-01

    Full Text Available Obscure gastrointestinal bleeding (OGIB can present as a diagnostic dilemma and management can be challenging. The search for causes of OGIB is usually centered on visualizing the small bowel, and in the past decade, the technology to visualize the entire small bowel has significantly advanced. Moreover, small bowel endoscopic imaging has replaced, in many instances, prior radiographic evaluation for obscure GI bleeding. These new modalities, such as small bowel capsule endoscopy (CE, balloon-assisted deep enteroscopy [double balloon enteroscopy (DBE and single balloon enteroscopy (SBE], and overtube-assisted deep enteroscopy (spiral enteroscopy, are paving the way toward more accurately identifying and treating patients with OGIB. We will review the diagnostic modalities available in evaluating a patient with OGIB and also propose the management based on clinical and endoscopic findings.

  7. Clinical Evaluation on Several anti- HIV Diagnostic Reagents

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective We Joined clinical evaluation on 6 anti - HIV diagnostic reagents which was organized by National Reference Laboratory of National Center for AIDS Prevention and Control. Method 100 sera of known result and 100 sera of unknown result were detected with 6 reagents according to test procedure of the reagents. Result The crude agreement (99.5 % ) of Organon Teknika and Determine reagents were higher than that of the other reagents. No anti - HIV positive serum was detected negative with Organon Teknika and Determine reagents. The sensitivity and specificity of Organon Teknika and Determine reagents were higher than those of the other reagents. The capacity of Organon Teknika reagent to detect the mild positive serum was greater than that of the other reagent. Conclusion Organon Teknika and Determine antiHIV diagnostic reagents were qualified for anti - HIV screening test while the other 4 reagents should be improved on sensitivity and specificity.

  8. Risk, diagnostic error, and the clinical science of consciousness

    Directory of Open Access Journals (Sweden)

    Andrew Peterson

    2015-01-01

    Full Text Available In recent years, a number of new neuroimaging techniques have detected covert awareness in some patients previously thought to be in a vegetative state/unresponsive wakefulness syndrome. This raises worries for patients, families, and physicians, as it indicates that the existing diagnostic error rate in this patient group is higher than assumed. Recent research on a subset of these techniques, called active paradigms, suggests that false positive and false negative findings may result from applying different statistical methods to patient data. Due to the nature of this research, these errors may be unavoidable, and may draw into question the use of active paradigms in the clinical setting. We argue that false positive and false negative findings carry particular moral risks, which may bear on investigators' decisions to use certain methods when independent means for estimating their clinical utility are absent. We review and critically analyze this methodological problem as it relates to both fMRI and EEG active paradigms. We conclude by drawing attention to three common clinical scenarios where the risk of diagnostic error may be most pronounced in this patient group.

  9. Hemicrania Continua: Functional Imaging and Clinical Features With Diagnostic Implications.

    Science.gov (United States)

    Sahler, Kristen

    2013-04-10

    This review focuses on summarizing 2 pivotal articles in the clinical and pathophysiologic understanding of hemicrania continua (HC). The first article, a functional imaging project, identifies both the dorsal rostral pons (a region associated with the generation of migraines) and the posterior hypothalamus (a region associated with the generation of cluster and short-lasting unilateral neuralgiform headache with conjunctival injection and tearing [SUNCT]) as active during HC. The second article is a summary of the clinical features seen in a prospective cohort of HC patients that carry significant diagnostic implications. In particular, they identify a wider range of autonomic signs than what is currently included in the International Headache Society criteria (including an absence of autonomic signs in a small percentage of patients), a high frequency of migrainous features, and the presence of aggravation and/or restlessness during attacks. Wide variations in exacerbation length, frequency, pain description, and pain location (including side-switching pain) are also noted. Thus, a case is made for widening and modifying the clinical diagnostic criteria used to identify patients with HC.

  10. Bilateral vestibular hypofunction: Insights in etiologies, clinical subtypes and diagnostics

    Directory of Open Access Journals (Sweden)

    F. eLucieer

    2016-03-01

    Full Text Available Objective:To evaluate the different etiologies and clinical subtypes of bilateral vestibular hypofunction (BVH and the value of diagnostic tools in the diagnostic process of BVH.Materials and methods: A retrospective case review was performed on 154 patients diagnosed with BVH in a tertiary referral center, between 2013 and 2015. Inclusion criteria comprised 1 imbalance and/or oscillopsia during locomotion, and 2 summated slow phase velocity of nystagmus of less than 20 degrees per second during bithermal caloric tests.Results:The definite etiology of BVH was determined in 47% of the cases and the probable etiology in 22%. In 31%, the etiology of BVH remained idiopathic. BVH resulted from more than 20 different etiologies. In the idiopathic group, the percentage of migraine was significantly higher compared to the non-idiopathic group (50% versus 11%, p<0.001. Among all patients, 23.4% were known with autoimmune disorders in their medical history. All 4 clinical subtypes (recurrent vertigo with BVH, rapidly progressive BVH, slowly progressive BVH and slowly progressive BVH with ataxia were found in this population. Slowly progressive BVH with ataxia comprised only 4.5% of the cases. The head impulse test was abnormal in 94% of the cases. The torsion swing test was abnormal in 66%. Bilateral normal hearing to moderate hearing loss was found in 49%. Blood tests did not often contribute to the determination of the etiology of the disease. Abnormal cerebral imaging was found in 21 patients.Conclusion:BVH is a heterogeneous condition with various etiologies and clinical characteristics. Migraine seems to play a significant role in idiopathic BVH and auto-immunity could be a modulating factor in the development of BVH. The distribution of etiologies of BVH probably depends on the clinical setting. In the diagnostic process of BVH, the routine use of some blood tests can be reconsidered and a low-threshold use of audiometry and cerebral imaging is

  11. Primary hyperparathyroidism: epidemiology, clinical features, diagnostic tools and current management

    Directory of Open Access Journals (Sweden)

    Andrea Percivale

    2015-12-01

    Full Text Available Primary hyperparathyroidism (PHPT is a clinical condition characterized by overactive parathyroid gland secretion of parathyroid hormone with concurrent alteration of the phosphocalcemic metabolism. We present a literature review on primary hyperparathyroidism addressing key on clinical presentation, causes, medical and surgical treatment at the best of our knowledge. Based on this review we confirm the role of serum calcium and serum level examination, as well as we define the definitive treatment for PHPT being parathyroidectomy. In case of contraindication for surgery, medical treatment can play a relevant role.

  12. Implications of caries diagnostic strategies for clinical management decisions

    DEFF Research Database (Denmark)

    Baelum, Vibeke; Hintze, Hanne; Wenzel, Ann;

    2012-01-01

    in a low-caries population. METHODS: Each of four examiners independently examined preselected contacting interproximal surfaces in 53 dental students aged 20-37 years using a visual-tactile examination and bitewing radiography. The visual-tactile examination distinguished between noncavitated......OBJECTIVES: In clinical practice, a visual-tactile caries examination is frequently supplemented by bitewing radiography. This study evaluated strategies for combining visual-tactile and radiographic caries detection methods and determined their implications for clinical management decisions......-specificity) were calculated for each diagnostic strategy. RESULTS: Visual-tactile examination provided a true-positive rate of 34.2% and a false-positive rate of 1.5% for the detection of a cavity. The combination of a visual-tactile and a radiographic examination using the lesion in dentin threshold...

  13. Diagnostic and clinical considerations in prolonged grief disorder.

    Science.gov (United States)

    Maercker, Andreas; Lalor, John

    2012-06-01

    This review focuses on the similarities and differences between prolonged grief disorder (PGD) and post-traumatic stress disorder (PTSD). It highlights how a PTSD-related understanding aids the investigation and clinical management of PGD. Grief has long been understood as a natural response to bereavement, as serious psychological and physiological stress has been regarded as a potential outcome of extreme or traumatic stress. PTSD was first included in DSM-III in 1980. In the mid-1980s, the first systematic investigation began into whether there is an extreme or pathological form of mourning. Meanwhile, there is much research literature on complicated, traumatic, or prolonged grief This literature is reviewed in this article, with the following questions: Is it possible to distinguish normal from non-normal grief? Which clinical presentation does PGD have-and how does this compare with PTSD? Finally, diagnostic, preventive, and therapeutic approaches and existing tools are presented.

  14. Clinics in diagnostic imaging (82). Lesser trochanter metastasis.

    Science.gov (United States)

    Peh, W C G; Muttarak, M

    2003-02-01

    A 73-year-old woman who had previous mastectomy for breast carcinoma presented with persistent pain over the left hip area for two to three months. Pelvic radiograph showed an expanded osteolytic lesion involving the lesser trochanter of the left femur, with adjacent ill-defined destructive changes. She subsequently developed a displaced pathological fracture through the lesser trochanteric metastasis. The clinical features and pathophysiology of bone metastases are discussed. The role of imaging, with additional illustrative examples, is emphasised.

  15. Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

    Directory of Open Access Journals (Sweden)

    E. Yu. Pashkova

    2015-01-01

    Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

  16. Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

    Directory of Open Access Journals (Sweden)

    E. Yu. Pashkova

    2015-04-01

    Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

  17. [The sacroiliac joint dysfunction: clinical manifestations, diagnostics and manual therapy].

    Science.gov (United States)

    Grgić, Vjekoslav

    2005-01-01

    Sacroiliac joint dysfunction is one of the proved causes of sacroiliac joint syndrome. We are talking about the restricted mobility of sacrum opposite to ilium the type of "reversible blockage of movement". Main characteristics of dysfunction are as follows: restricted "joint play", referred pain, normal radiological finding, normal lab results and disappearance of clinical symptoms after deblocking of articular bodies. Pain from a blocked joint can be referred to lower back, buttocks, hip, groin, thigh, calf and lower part of abdomen. Dispersion of painful regions is a consequence of a complex and variable innervation of articular capsule. Blocked position of articular bodies and protracted tension of articular capsule causes a stimulus of nociceptors by which a capsule is protected. Nociceptive activity is manifested with referred pains in innervational region of stimulated sensitive nerves. In the article, besides the clinical manifestations, there is described a diagnostics and manual therapy of dysfunction. Springing tests by means of which a passive mobility ("joint play") is being tested, are most valuable in dysfunction diagnostics. Manual therapy (mobilization/manipulation) is indicated and efficacious with the patients suffering from dysfunction.

  18. A Diagnostic Model for Dementia in Clinical Practice-Case Methodology Assisting Dementia Diagnosis.

    Science.gov (United States)

    Londos, Elisabet

    2015-04-02

    Dementia diagnosis is important for many different reasons. Firstly, to separate dementia, or major neurocognitive disorder, from MCI (mild cognitive impairment), mild neurocognitive disorder. Secondly, to define the specific underlying brain disorder to aid treatment, prognosis and decisions regarding care needs and assistance. The diagnostic method of dementias is a puzzle of different data pieces to be fitted together in the best possible way to reach a clinical diagnosis. Using a modified case methodology concept, risk factors affecting cognitive reserve and symptoms constituting the basis of the brain damage hypothesis, can be visualized, balanced and reflected against test results as well as structural and biochemical markers. The model's origin is the case method initially described in Harvard business school, here modified to serve dementia diagnostics.

  19. What is the role of clinical tests and ultrasound in acetabular labral tear diagnostics?

    DEFF Research Database (Denmark)

    Troelsen, Anders; Mechlenburg, Inger; Gelineck, John;

    2009-01-01

    BACKGROUND AND PURPOSE: An acetabular labral tear is a diagnostic challenge. Various clinical tests have been described, but little is known about their diagnostic sensitivity and specificity. We investigated the diagnostic validity of clinical tests and ultrasound as compared with MR arthrograph...

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

    Science.gov (United States)

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

    2009-01-01

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

  1. Updates on chikungunya epidemiology, clinical disease, and diagnostics.

    Science.gov (United States)

    Sam, I-Ching; Kümmerer, Beate M; Chan, Yoke-Fun; Roques, Pierre; Drosten, Christian; AbuBakar, Sazaly

    2015-04-01

    Chikungunya virus (CHIKV) is an Aedes-borne alphavirus, historically found in Africa and Asia, where it caused sporadic outbreaks. In 2004, CHIKV reemerged in East Africa and spread globally to cause epidemics, including, for the first time, autochthonous transmission in Europe, the Middle East, and Oceania. The epidemic strains were of the East/Central/South African genotype. Strains of the Asian genotype of CHIKV continued to cause outbreaks in Asia and spread to Oceania and, in 2013, to the Americas. Acute disease, mainly comprising fever, rash, and arthralgia, was previously regarded as self-limiting; however, there is growing evidence of severe but rare manifestations, such as neurological disease. Furthermore, CHIKV appears to cause a significant burden of long-term morbidity due to persistent arthralgia. Diagnostic assays have advanced greatly in recent years, although there remains a need for simple, accurate, and affordable tests for the developing countries where CHIKV is most prevalent. This review focuses on recent important work on the epidemiology, clinical disease and diagnostics of CHIKV.

  2. Clinical Applications of the Eosinophilic Esophagitis Diagnostic Panel

    Directory of Open Access Journals (Sweden)

    Ting Wen

    2017-07-01

    Full Text Available Eosinophilic esophagitis (EoE is a recently recognized upper gastrointestinal allergic disorder characterized by esophageal dysfunction (e.g., dysphagia and esophageal eosinophilia of ≥15 eosinophils/high-power field in patients who have persistent esophagitis even on proton pump inhibitor (PPI therapy. The histologic method is the gold standard of EoE diagnosis. However, EoE clinical symptoms do not always correlate with histology, and the histologic method has sensitivity and specificity issues due to the patchiness of EoE and the subjective nature of the method. The “EoE transcriptome” was initially discovered in 2006, which led to the invention of the EoE diagnostic panel (EDP. In addition to providing a definitive EoE diagnosis with high accuracy, the EDP has been useful in elucidating several key elements about the disease including the efficacy of specific drugs such as swallowed glucocorticoids and anti-IL-13 humanized antibody therapy, the relationship between EoE and PPI-responsive esophageal eosinophilia, and predicting the disease course and responsiveness to therapy. The EDP’s long-term potential arises from its plasticity to incorporate new genes and uncover novel disease pathogenesis. We expect that the EDP will be increasingly helpful for personalized medicine approaches and improved diagnostics and disease monitoring.

  3. [Clinical value of scanning laser polarimetry in glaucoma diagnostics].

    Science.gov (United States)

    Kremmer, S; Anastassiou, G; Selbach, J M

    2012-02-01

    The term glaucoma is used as a melting pot of many different diseases which have in common that the retinal ganglion cells and their axons are damaged. Untreated, apoptosis can be induced causing ganglion cell death which subsequently leads to typical glaucomatous damage at the optic nerve head, scotomas of the visual fields, and in the worst case scenario to blindness. It is well known that patients with glaucoma can suffer a 20 to 50 % loss of retinal ganglion cells before a defect becomes evident in standard white on white perimetry. To prevent glaucomatous damage, it is important to detect changes of the retinal ganglion cells and their nerve fibre layer as early as possible and to monitor their follow-up as closely as possible in order to find an adequate treatment of glaucoma, and to control its efficiency. In the past few years, scanning laser polarimetry by means of GDx technology (Carl Zeiss Meditec, Dublin, USA) could be established as a new method to measure the retinal nerve fibre layer not only qualitatively but even quantitatively. Presently, the GDx plays an important role in actual glaucoma diagnostics on account of its high resolution, the comfort for both patient and user, and its highly reproducible measurements. Especially in difficult evaluable optic nerve heads (e. g., micro- and macrodiscs), tilted discs, and optic disc anomalies (e. g., optic nerve drusen) modern nerve fibre diagnostics by means of GDx technology is a helpful enrichment in clinical routine.

  4. Clinical Factors and Disease Course Related to Diagnostic Delay in Korean Crohn's Disease Patients: Results from the CONNECT Study.

    Directory of Open Access Journals (Sweden)

    Chang Mo Moon

    Full Text Available Diagnostic delay frequently occurs in Crohn's disease (CD patients because of diagnostic limitations. However, diagnostic delay and its related factors remain poorly defined. Therefore, we aimed to identify the predictors associated with diagnostic delay and to evaluate the impact of diagnostic delay on clinical course in a Korean CD patient cohort. We performed a multicenter retrospective analysis of 1,047 CD patients registered in the Crohn's Disease Clinical Network and Cohort study in Korea. The mean interval of diagnostic delay was 16.0 ± 33.1 months. Multivariate analysis showed that older age at diagnosis (≥40 years (p = 0.014, concomitant upper gastrointestinal (UGI disease (p = 0.012 and penetrating disease behavior at diagnosis (p = 0.001 were positively associated with long diagnostic delay (≥18 months. During the longitudinal follow-up, long diagnostic delay was independently predictive of further development of intestinal stenosis (hazard ratio [HR], 1.43; 95% confidence interval [CI], 1.07-1.93; p = 0.017, internal fistulas (HR, 1.62; 95% CI, 1.12-2.33; p = 0.011, and perianal fistulas (HR, 1.38; 95% CI, 1.06-1.80; p = 0.016. However, as for the risk of abscess formation, bowel perforation, and CD-related abdominal surgery, no significant association with diagnostic delay was observed. Older age at diagnosis, UGI involvement, and penetrating behavior are associated with long diagnostic delay in Korean CD patients. Moreover, diagnostic delay is associated with an increased risk of CD-related complications such as intestinal stenosis, internal fistulas, and perianal fistulas.

  5. Health status instruments for patients with COPD in pulmonary rehabilitation: defining a minimal clinically important difference

    OpenAIRE

    Alma, Harma; Jong, Corina de; Jelusic, Danijel; Wittmann, Michael; Schuler, Michael; Blok, Bertine Flokstra-de; Kocks, Janwillem; Schultz, Konrad; van der Molen, Thys

    2016-01-01

    The minimal clinically important difference (MCID) defines to what extent change on a health status instrument is clinically relevant, which aids scientists and physicians in measuring therapy effects. This is the first study that aimed to establish the MCID of the Clinical chronic obstructive pulmonary disease (COPD) Questionnaire (CCQ), the COPD Assessment Test (CAT) and the St George’s Respiratory Questionnaire (SGRQ) in the same pulmonary rehabilitation population using multiple approache...

  6. Constructing diagnostic likelihood: clinical decisions using subjective versus statistical probability.

    Science.gov (United States)

    Kinnear, John; Jackson, Ruth

    2017-07-01

    Although physicians are highly trained in the application of evidence-based medicine, and are assumed to make rational decisions, there is evidence that their decision making is prone to biases. One of the biases that has been shown to affect accuracy of judgements is that of representativeness and base-rate neglect, where the saliency of a person's features leads to overestimation of their likelihood of belonging to a group. This results in the substitution of 'subjective' probability for statistical probability. This study examines clinicians' propensity to make estimations of subjective probability when presented with clinical information that is considered typical of a medical condition. The strength of the representativeness bias is tested by presenting choices in textual and graphic form. Understanding of statistical probability is also tested by omitting all clinical information. For the questions that included clinical information, 46.7% and 45.5% of clinicians made judgements of statistical probability, respectively. Where the question omitted clinical information, 79.9% of clinicians made a judgement consistent with statistical probability. There was a statistically significant difference in responses to the questions with and without representativeness information (χ2 (1, n=254)=54.45, pstatistical probability. One of the causes for this representativeness bias may be the way clinical medicine is taught where stereotypic presentations are emphasised in diagnostic decision making. 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/.

  7. Defining and reconstructing clinical processes based on IHE and BPMN 2.0.

    Science.gov (United States)

    Strasser, Melanie; Pfeifer, Franz; Helm, Emmanuel; Schuler, Andreas; Altmann, Josef

    2011-01-01

    This paper describes the current status and the results of our process management system for defining and reconstructing clinical care processes, which contributes to compare, analyze and evaluate clinical processes and further to identify high cost tasks or stays. The system is founded on IHE, which guarantees standardized interfaces and interoperability between clinical information systems. At the heart of the system there is BPMN, a modeling notation and specification language, which allows the definition and execution of clinical processes. The system provides functionality to define healthcare information system independent clinical core processes and to execute the processes in a workflow engine. Furthermore, the reconstruction of clinical processes is done by evaluating an IHE audit log database, which records patient movements within a health care facility. The main goal of the system is to assist hospital operators and clinical process managers to detect discrepancies between defined and actual clinical processes and as well to identify main causes of high medical costs. Beyond that, the system can potentially contribute to reconstruct and improve clinical processes and enhance cost control and patient care quality.

  8. Clinical practice guideline: tonsillitis I. Diagnostics and nonsurgical management.

    Science.gov (United States)

    Windfuhr, Jochen P; Toepfner, Nicole; Steffen, Gregor; Waldfahrer, Frank; Berner, Reinhard

    2016-04-01

    More than 120,000 patients are treated annually in Germany to resolve repeated episodes of acute tonsillitis. Therapy is aiming at symptom regression, avoidance of complications, reduction in the number of disease-related absences in school or at work, increased cost-effectiveness and improved quality of life. The purpose of this part of the guideline is to provide clinicians in any setting with a clinically focused multi-disciplinary guidance through different conservative treatment options in order to reduce inappropriate variation in clinical care, improve clinical outcome and reduce harm. Surgical management in terms of intracapsular as well as extracapsular tonsillectomy (i.e. tonsillotomy) is the subject of part II of this guideline. To estimate the probability of tonsillitis caused by β-hemolytic streptococci, a diagnostic scoring system according to Centor or McIsaac is suggested. If therapy is considered, a positive score of ≥3 should lead to pharyngeal swab or rapid test or culture in order to identify β-hemolytic streptococci. Routinely performed blood tests for acute tonsillitis are not indicated. After acute streptococcal tonsillitis, there is no need to repeat a pharyngeal swab or any other routine blood tests, urine examinations or cardiological diagnostics such as ECG. The determination of the antistreptolysin O-titer (ASLO titer) and other antistreptococcal antibody titers do not have any value in relation to acute tonsillitis with or without pharyngitis and should not be performed. First-line therapy of β-hemolytic streptococci consists of oral penicillin. Instead of phenoxymethylpenicillin-potassium (penicillin V potassium), also phenoxymethlpenicillin-benzathine with a clearly longer half-life can be used. Oral intake for 7 days of one of both the drugs is recommended. Alternative treatment with oral cephalosporins (e.g. cefadroxil, cefalexin) is indicated only in cases of penicillin failure, frequent recurrences, and whenever a more

  9. 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).

  10. Diagnostic and clinical classification of autoimmune myasthenia gravis.

    Science.gov (United States)

    Berrih-Aknin, Sonia; Frenkian-Cuvelier, Mélinée; Eymard, Bruno

    2014-01-01

    Myasthenia gravis is characterized by muscle weakness and abnormal fatigability. It is an autoimmune disease caused by the presence of antibodies against components of the muscle membrane localized at the neuromuscular junction. In most cases, the autoantibodies are against the acetylcholine receptor (AChR). Recently, other targets have been described such as the MuSK protein (muscle-specific kinase) or the LRP4 (lipoprotein related protein 4). Myasthenia gravis can be classified according to the profile of the autoantibodies, the location of the affected muscles (ocular versus generalized), the age of onset of symptoms and thymic abnormalities. The disease generally begins with ocular symptoms (ptosis and/or diplopia) and extends to other muscles in 80% of cases. Other features that characterize MG include the following: variability, effort induced worsening, successive periods of exacerbation during the course of the disease, severity dependent on respiratory and swallowing impairment (if rapid worsening occurs, a myasthenic crisis is suspected), and an association with thymoma in 20% of patients and with other autoimmune diseases such as hyperthyroidism and Hashimoto's disease. The diagnosis is based on the clinical features, the benefit of the cholinesterase inhibitors, the detection of specific autoantibodies (anti-AChR, anti-MuSK or anti-LRP4), and significant decrement evidenced by electrophysiological tests. In this review, we briefly describe the history and epidemiology of the disease and the diagnostic and clinical classification. The neonatal form of myasthenia is explained, and finally we discuss the main difficulties of diagnosis.

  11. Filtering Medline for a clinical discipline: diagnostic test assessment framework

    Science.gov (United States)

    Iansavichus, Arthur V; Wilczynski, Nancy L; Kastner, Monika; Baier, Leslie A; Shariff, Salimah Z; Rehman, Faisal; Weir, Matthew; McKibbon, K Ann; Haynes, R Brian

    2009-01-01

    Objective To develop and test a Medline filter that allows clinicians to search for articles within a clinical discipline, rather than searching the entire Medline database. Design Diagnostic test assessment framework with development and validation phases. Setting Sample of 4657 articles published in 2006 from 40 journals. Reviews Each article was manually reviewed, and 19.8% contained information relevant to the discipline of nephrology. The performance of 1 155 087 unique renal filters was compared with the manual review. Main outcome measures Sensitivity, specificity, precision, and accuracy of each filter. Results The best renal filters combined two to 14 terms or phrases and included the terms “kidney” with multiple endings (that is, truncation), “renal replacement therapy”, “renal dialysis”, “kidney function tests”, “renal”, “nephr” truncated, “glomerul” truncated, and “proteinuria”. These filters achieved peak sensitivities of 97.8% and specificities of 98.5%. Performance of filters remained excellent in the validation phase. Conclusions Medline can be filtered for the discipline of nephrology in a reliable manner. Storing these high performance renal filters in PubMed could help clinicians with their everyday searching. Filters can also be developed for other clinical disciplines by using similar methods. PMID:19767336

  12. The Diagnostic Accuracy of Clinical and External Pelvimetry in Prediction of Dystocia in Nulliparous Women

    Directory of Open Access Journals (Sweden)

    R Alijahan

    2011-08-01

    Full Text Available Introduction: Clinical pelvimetry is very uncomfortable for the patient and is associated with subjective error, while external pelvimetry is a simple and acceptable method for patients. The objective of this study was to compare the diagnostic accuracy of clinical and external pelvimetry in prediction of dystocia in nulliparous women. Methods: In this study between December 2008 and January 2009, 447 nulliparous women with a single pregnancy in vertex presentation and gestational age 38-42 weeks referring to the Ommolbanin hospital of Mashhad were included. External pelvic dimensions were assessed at the time of admission and clinical pelvimetry was performed by another examiner. These measurements were not available to the clinician in charge of the delivery. Dystocia was defined as caesarean section and vacuum or forceps delivery for abnormal progress of labor ( active uterine contractions, arrest of cervical dilatation or cervical dilatation less than 1 cm /h in the active phase for 2 hours, prolongation of second stage beyond 2 hours or fetal head descent less than 1cm/h. Statistical tests included Fisher exact test and Chi- square test. Results: The highest sensitivity obtained from clinical pelvimetry was 33.3% and related to diagonal conjugate less than 11.5 cm. The sensitivity of external pelvic dimensions was higher than clinical pelvimetry that was highest for the Michaelis transverse diameter(60.72%. Conclusion: External pelvimetry in comparison to clinical pelvimetry is a better method for identifying dystocia in nulliparous women and can replace clinical pelvimetry in antenatal care programs.

  13. Autoimmune liver serology: Current diagnostic and clinical challenges

    Institute of Scientific and Technical Information of China (English)

    Dimitrios P Bogdanos; Pietro Invernizzi; Ian R Mackay; Diego Vergani

    2008-01-01

    Liver-related autoantibodies are crucial for the correct diagnosis and classification of autoimmune liver diseases (AiLD), namely autoimmune hepatitis types 1 and 2 (AIH-1 and 2), primary biliary cirrhosis (PBC),and the sclerosing cholangitis variants in adults and children.AIH-1 is specified by anti-nuclear antibody (ANA) and smooth muscle antibody (SMA). AIH-2 is specified by antibody to liver kidney microsomal antigen type-1 (anti-LKM1) and anti-liver cytosol type 1 (anti-LC1).SMA,ANA and anti-LKM antibodies can be present in de-novo AIH following liver transplantation.PBC is specified by antimitochondrial antibodies (AMA) reacting with enzymes of the 2-oxo-acid dehydrogenase complexes (chiefly pyruvate dehydrogenase complex E2 subunit) and disease-specific ANA mainly reacting with nuclear pore gp210 and nuclear body sp100. Sclerosing cholangitis presents as at least two variants,first the classical primary sclerosing cholangitis (PSC) mostly affecting adult men wherein the only (and nonspecific) reactivity is an atypical perinuclear antineutrophil cytoplasmic antibody (p-ANCA),also termed perinuclear anti-neutrophil nuclear antibodies (p-ANNA) and second the childhood disease called autoimmune sclerosing cholangitis (ASC) with serological features resembling those of type 1 AIH.Liver diagnostic serology is a fast-expanding area of investigation as new purified and recombinant autoantigens,and automated technologies such as ELISAs and bead assays,become available to complement (or even compete with) traditional immunofluorescence procedures.We survey for the first time global trends in quality assurance impacting as it does on (1) manufacturers/purveyors of kits and reagents,(2) diagnostic service laboratories that fulfill clinicians'requirements, and (3) the end-user,the physician providing patient care,who must properly interpret test results in the overall clinical context.

  14. Diagnostic Methods for Bile Acid Malabsorption in Clinical Practice

    Science.gov (United States)

    Vijayvargiya, Priya; Camilleri, Michael; Shin, Andrea; Saenger, Amy

    2013-01-01

    Altered bile acid (BA) concentrations in the colon may cause diarrhea or constipation. BA malabsorption (BAM) accounts for >25% of patients with irritable bowel syndrome (IBS) with diarrhea and chronic diarrhea in Western countries. As BAM is increasingly recognized, proper diagnostic methods are desired in clinical practice to help direct the most effective treatment course for the chronic bowel dysfunction. This review appraises the methodology, advantages and disadvantages of 4 tools that directly measure BAM: 14C-glycocholate breath and stool test, 75Selenium HomotauroCholic Acid Test (SeHCAT), 7 α-hydroxy-4-cholesten-3-one (C4) and fecal BAs. 14C-glycocholate is a laborious test no longer widely utilized. 75SeHCAT is validated, but not available in the United States. Serum C4 is a simple, accurate method that is applicable to a majority of patients, but requires further clinical validation. Fecal measurements to quantify total and individual fecal BAs are technically cumbersome and not widely available. Regrettably, none of these tests are routinely available in the U.S., and a therapeutic trial with a BA binder is used as a surrogate for diagnosis of BAM. Recent data suggest there is an advantage to studying fecal excretion of the individual BAs and their role in BAM; this may constitute a significant advantage of the fecal BA method over the other tests. Fecal BA test could become a routine addition to fecal fat measurement in patients with unexplained diarrhea. In summary, availability determines the choice of test among C4, SeHCAT and fecal BA; more widespread availability of such tests would enhance clinical management of these patients. PMID:23644387

  15. Proposed Diagnostic Criteria for the DSM-5 of Nonsuicidal Self-Injury in Female Adolescents: Diagnostic and Clinical Correlates

    Directory of Open Access Journals (Sweden)

    Tina In-Albon

    2013-01-01

    Full Text Available Nonsuicidal self-injury (NSSI is included as conditions for further study in the DSM-5. Therefore, it is necessary to investigate the proposed diagnostic criteria and the diagnostic and clinical correlates for the validity of a diagnostic entity. The authors investigated the characteristics of NSSI disorder and the proposed diagnostic criteria. A sample of 73 female inpatient adolescents and 37 nonclinical adolescents (aged 13 to 19 years was recruited. Patients were classified into 4 groups (adolescents with NSSI disorder, adolescents with NSSI without impairment/distress, clinical controls without NSSI, and nonclinical controls. Adolescents were compared on self-reported psychopathology and diagnostic cooccurrences. Results indicate that adolescents with NSSI disorder have a higher level of impairment than adolescents with other mental disorders without NSSI. Most common comorbid diagnoses were major depression, social phobia, and PTSD. There was some overlap of adolescents with NSSI disorder and suicidal behaviour and borderline personality disorder, but there were also important differences. Results further suggest that the proposed DSM-5 diagnostic criteria for NSSI are useful and necessary. In conclusion, NSSI is a highly impairing disorder characterized by high comorbidity with various disorders, providing further evidence that NSSI should be a distinct diagnostic entity.

  16. [20-year experience with laserofluorescent diagnostics in clinical microbiology].

    Science.gov (United States)

    Aleksandrov, M T; Pashkov, E P; Bykov, A S; Gun'ko, V I; Popov, S N; Ivanchenko, O N; Rodionov, A D; Gizatullin, R M

    2011-01-01

    Results of rapid laser-assisted identification of microorganisms for diagnostics of microbial processes based on auto-fluorescence effect in bacteria-containing materials are summarized. It is proposed to use the auto-fluorescence technique for express diagnostics of pyoinflammatory diseases, evaluation of microflora conditions (eubiosis, dysbiosis) and sensitivity to antibiotics, monitoring and prognostication, assessment of the quality of antibiotic therapy. Priority in the development of this medical technology for laserofluorescent diagnostics and its practical application is protected by 15 patents.

  17. CLINICAL PICTURE, DIAGNOSTICS AND TREATMENT OF GIARDIASIS IN CHILDREN

    Directory of Open Access Journals (Sweden)

    E.A. Kornienko

    2009-01-01

    Full Text Available According to the WHO, giardiasis incidence rate in children in the world is 15 to 20%. In Russia, over 130,000 cases of giardiasis are registered annually, of which children under 14 years account for more than 70%. The study of 124 children with giardiasis conducted by the authors has shown that giardiasis in children always triggers development of chronic duodenitis, in 55% of cases that coupled with lymphostasis, in 45% — that with atrophy of duodenum mucous lining. In 40% of cases, chronic duodenitis with giardiasis is accompanied with duodenogastric reflux, in 88% — with development of lactase deficiency, in 81% — by functional biliary system distress and in all cases with intestinal tract microbiocenosis distress. Along with clinical manifestations of the disease, the researchers have studied immunological modifications in children with giardiasis, and have evaluated the information content of various diagnostic techniques, efficiency of medication. The authors have demonstrated that mono therapy with any of anti giardiasis drugs (metronidazole, nifuratel, albendozole has low efficiency. Saccharomyces boulardii have a powerful comprehensive effect on many links of giardiasis pathogenesis.Key words: giardiasis, infestation, scatoscopy, Saccharomyces boulardii.

  18. Generalized anxiety disorder: clinical presentation, diagnostic features, and guidelines for clinical practice.

    Science.gov (United States)

    van der Heiden, Colin; Methorst, Gerda; Muris, Peter; van der Molen, Henk T

    2011-01-01

    Generalized anxiety disorder (GAD) is a prevalent and disabling disorder characterised by persistent worrying, anxiety symptoms, and tension. General practitioners and mental healthcare professionals frequently misdiagnose the presenting symptoms. This article addresses the clinical presentation of GAD and provides guidelines for discriminating GAD from other disorders, based on theoretical considerations and clinical experience. Debate relating to the validity of the definition of GAD is discussed, and suggestions are made for improving the criteria for GAD, which may guide future versions of classification systems such as the Diagnostic and Statistical Manual.

  19. Computer-assisted Diagnostic Checklist in Clinical Neurology.

    Science.gov (United States)

    Finelli, Pasquale F; McCabe, Andrew L

    2016-03-01

    Considering computers are more efficient at processing large amounts of information than the human brain, speaks to the need to explore more intelligent computer-assisted diagnostic approaches. Two diagnostic checklist programs, one for single key term entry (NeurologyINDEX), and another, with more advanced algorithms to process multiple key terms and perform additional functions (NeurologicDx) are discussed. Both programs are internet based, access the same database, and are designed to generate diagnostic checklists and disease profiles accessible with hand-held or other computer device. The development of systems that use "smart algorithms" to generate valid diagnostic checklists is the goal.

  20. Biomarkers of treatment outcome in schizophrenia: Defining a benchmark for clinical significance.

    Science.gov (United States)

    Levine, Stephen Z; Rabinowitz, Jonathan; Uher, Rudolf; Kapur, Shitij

    2015-10-01

    Emerging data from on imaging and genetic studies have generated interest in "clinically significant" biomarkers to predict response and prognosis. What constitutes "clinical significance" and how a biomarker would reach that threshold are unclear. To develop a benchmark we reviewed different approaches for defining "clinical significance" applied in schizophrenia research and identified that an improvement of 15 points on the PANSS Total is considered meaningful in clinical settings. Using this benchmark and we simulated thousands of schizophrenia trials, using characteristics derived from the NEWMEDS database with over 8000 patients with schizophrenia, to the kind of imaging, genetic, and other biomarkers that could attain clinical significance. We plotted the interaction between frequency-of-occurrence, the effect size of biomarkers and their relationship to the clinical significance threshold. Results show that categorical biomarkers are likely to attain clinical significance when they occur in 20-50% of the clinical population, and can predict at least a 8-10 point PANSS scale difference. Genetic markers are likely to have clinical significance when they occur in 20-50% of the population and can predict 7-9 points on the PANSS scale. A marker with a lower frequency or lesser effect size would find it hard to meet clinical significance thresholds for schizophrenia. The assumptions and limitations of this approach are discussed. Compared with standards in the rest of medicine, biomarkers that can attain this benchmark will be cost-effective and are likely to be adopted by clinical systems.

  1. Validation of computerized diagnostic information in a clinical database from a national equine clinic network

    Directory of Open Access Journals (Sweden)

    Egenvall Agneta

    2009-12-01

    Full Text Available Abstract Background Computerized diagnostic information offers potential for epidemiological research; however data accuracy must be addressed. The principal aim of this study was to evaluate the completeness and correctness of diagnostic information in a computerized equine clinical database compared to corresponding hand written veterinary clinical records, used as gold standard, and to assess factors related to correctness. Further, the aim was to investigate completeness (epidemiologic sensitivity, correctness (positive predictive value, specificity and prevalence for diagnoses for four body systems and correctness for affected limb information for four joint diseases. Methods A random sample of 450 visits over the year 2002 (nvisits = 49,591 was taken from 18 nation wide clinics headed under one company. Computerized information for the visits selected and copies of the corresponding veterinary clinical records were retrieved. Completeness and correctness were determined using semi-subjective criteria. Logistic regression was used to examine factors associated with correctness for diagnosis. Results Three hundred and ninety six visits had veterinary clinical notes that were retrievable. The overall completeness and correctness were 91% and 92%, respectively; both values considered high. Descriptive analyses showed significantly higher degree of correctness for first visits compared to follow up visits and for cases with a diagnostic code recorded in the veterinary records compared to those with no code noted. The correctness was similar regardless of usage category (leisure/sport horse, racing trotter and racing thoroughbred or gender. For the four body systems selected (joints, skin and hooves, respiratory, skeletal the completeness varied between 71% (respiration and 91% (joints and the correctness ranged from 87% (skin and hooves to 96% (respiration, whereas the specificity was >95% for all systems. Logistic regression showed that

  2. Defining Emergency Department Necessary Policies Based on Clinical Governance Accreditation Scores

    Directory of Open Access Journals (Sweden)

    Mehrdad Esmailian

    2015-05-01

    Full Text Available Introduction: The role of accreditation scheme in quality improvement of emergency departments (ED has not been thoroughly evaluated in studies. Therefore, this study was designed to appraise the effects of policies defined based on clinical governance accreditation scores, on improvement of the procedures in ED. Methods: The present cohort study was carried out in the ED of Alzahra University Hospital, Isfahan, Iran in 2012-2013. In 2012 the deficiencies in ED of this hospital was determined based on clinical governance indicators. Then the deficiencies were classified based on their importance and changes were made in the ED. Finally, the effects of the changes were evaluated in August 2013. Results: The evaluation made in 2012 showed that 23 clinical and non-clinical procedures were carried out with deficiencies. Over the mentioned period, 6 (26.1% procedures were not done at all, while 17 (73.9% were done without a policy and irregularly. The overall score for clinical and non-clinical procedures in the ED before carrying out the accreditation scheme was 43 / 230 (18.7% of the maximum possible score. The score was raised to 222 equal to 96.5% of the maximum possible score after carrying out the scheme. This increase was statistically significant (p < 0.001. Conclusion: The findings of the present study showed that defining policies for improving the procedures carried out in ED based on accreditation scheme leads to improvement of medical services in ED.

  3. Clinical significance of CT-defined minimal ascites in patients with gastric cancer

    Institute of Scientific and Technical Information of China (English)

    Dong Kyung Chang; Ji Won Kim; Byung Kwan Kim; Kook Lae Lee; Chi Sung Song; Joon Koo Han; In Sung Song

    2005-01-01

    AIM: To study the clinical significance of minimal ascites,which was only defined by the CT and whose nature was not determined preoperatively, in the relationship with the peritoneal carcinomatosis.METHODS: The medical records and the dynamic CT films of 118 patients with gastric cancer were reviewed.Factors associated with peritoneal carcinomatosis were analyzed in 40 patients who had CT-defined ascites of which the nature was surgically confirmed.RESULTS: Only 12.5-25% of the CT-defined minimal ascites, whose volume was estimated to be less than 50 mL, were associated with peritoneal carcinomatosis.When the estimated CT-defined ascitic volume was 50 mL or more, peritoneal carcinomatosis was identified in 75-100%. When CT-defined lymph node enlargements were not found beyond the regional gastric area,perigastricinvasions were not suspected, and the size of tumor was less than 3 cm, peritoneal carcinomatosis seemed significantly less accompanied at the univariate analysis. However, except for the minimal volume of CTdefined ascites in comparison with the mild or more,other factors were not confirmed multivariately.CONCLUSION: In the patients with gastric cancer, CTdefined minimal ascites alone is rarely associated with peritoneal carcinomatosis, if it does not accompany other signs suggestive of malignant seeding. Therefore,consideration of active curative resection should not be hesitated, if CT-defined minimal ascites is the only delusive sign.

  4. [Diagnostics in clinically occult, radiologically suspect breast lesions more often surgery than needle diagnostics with image monitoring

    NARCIS (Netherlands)

    Pijnappel, R.M.; Peeters, P.M.; Rinkes, M.J.; Peterse, J.L.; Holland, R.; Mali, W.P.Th.

    2001-01-01

    OBJECTIVE: To inventory the diagnostic methods used in patients with clinically occult, radiologically suspect breast lesions. DESIGN: Enquiry. METHOD: The departments of radiology of all Dutch hospitals were sent a list in January 2000 containing questions concerning the number of thread localizati

  5. 50 years LASERS: in vitro diagnostics, clinical applications and perspectives.

    Science.gov (United States)

    Spyropoulos, Basile

    2011-01-01

    1960 Theodore Maiman built the first Ruby-LASER, starting-point for half a century of R&D on Biomedical LASER continuous improvement. The purpose of this paper is to contribute a review of the often disregarded, however, extremely important Industrial Property documents of LASER-based in vitro Diagnostics devices. It is an attempt to sketch-out the patent-trail leading towards the modern Biomedical Laboratory and to offer an introduction to the employment of "exotic" systems, such as the Free Electron LASER (FEL), that are expected to focus on the fundamental processes of life, following chemical reactions and biological processes as they happen, on unprecedented time and size scales. There are various in vitro LASER applications, however, the most important ones include: Hybrid Coulter Principle-LASER Hematology Analyzers. Flow Cytometry systems. Fluorescent in situ Hybridization (FISH Techniques). Confocal LASER Scanning Microscopy and Cytometry. From the first fluorescence-based flow Cytometry device developed in 1968 by Wolfgang Göhde until nowadays, numerous improvements and new features related to these devices appeared. The relevant industrial property milestone-documents and their overall numeral trends are presented. In 1971, J. Madey invented and developed the Free Electron LASER (FEL), a vacuum-tube that uses a beam of relativistic electrons passing through a periodic, transverse magnetic field (wiggler) to produce coherent radiation, contained in an optical cavity defined by mirrors. A resonance condition that involves the energy of the electron beam, the strength of the magnetic field, and the periodicity of the magnet determines the wavelength of the radiation. The FEL Coherent Light Sources like the Linac Coherent Light Source (LCLS) at Stanford, CA, USA or the Xray Free Electron LASER (XFEL) at Hamburg, Germany, will work much like a high-speed (LASERS. If the diodes brought a LASER into almost everyone's pocket, the above-mentioned super

  6. Assessing Professionalism: A Theoretical Framework for Defining Clinical Rotation Assessment Criteria.

    Science.gov (United States)

    Armitage-Chan, Elizabeth

    Although widely accepted as an important graduate competence, professionalism is a challenging outcome to define and assess. Clinical rotations provide an excellent opportunity to develop student professionalism through the use of experiential learning and effective feedback, but without appropriate theoretical frameworks, clinical teachers may find it difficult to identify appropriate learning outcomes. The adage "I know it when I see it" is unhelpful in providing feedback and guidance for student improvement, and criteria that are more specifically defined would help students direct their own development. This study sought first to identify how clinical faculty in one institution currently assess professionalism, using retrospective analysis of material obtained in undergraduate teaching and faculty development sessions. Subsequently, a faculty workshop was held in which a round-table type discussion sought to develop these ideas and identify how professionalism assessment could be improved. The output of this session was a theoretical framework for teaching and assessing professionalism, providing example assessment criteria and ideas for clinical teaching. This includes categories such as client and colleague interaction, respect and trust, recognition of limitations, and understanding of different professional identities. Each category includes detailed descriptions of the knowledge, skills, and behaviors expected of students in these areas. The criteria were determined by engaging faculty in the development of the framework, and therefore they should represent a focused development of criteria already used to assess professionalism, and not a novel and unfamiliar set of assessment guidelines. The faculty-led nature of this framework is expected to facilitate implementation in clinical teaching.

  7. Lead intoxication: clinic and diagnostic evaluation in children

    Directory of Open Access Journals (Sweden)

    Martínez-Riera Nora

    2012-03-01

    Full Text Available Poverty, poor nutrition, environmental and social injustice prevailing in Latin America are factorsthat determine the action of pollutants on children. Lead poisoning and pollution constitute apublic health problem throughout the world. Lead affects multiple organs: nervous system particularly,hematopoietic, renal, endocrine, bone and others. Objective: to assess clinical, biochemicaland vascular effects in children exposed to known source of lead. Materials and methods: Sevenchildren with defined source lead exposure were studied, general and specific lead laboratorywere made. Endothelial function and electrocardiographic parameters were assessed. Statistic:descriptive. Results: Age average was 6,2 years (DE± 1, 6, average haematocrit 31% (DE±0,02;hemoglobin average 10,2 g/dl (DE± 0,78. 100% presented hypochromia, microcitosis, anemiaand marked anisocytosis. Lead average: 37,9 ug/dl (DE±6,22, ALA-D average: 8,9 U/L (DE±4,5.No changes were found in lipid profile and kidney function. All presented microalbuminuriaand endothelial dysfunction. Conclusion: These results show the effects of environmental leadexposure that can result in children not occupationally exposed.

  8. [Diagnostic and clinical behaviour with Tarlov cyst in gynaecology practice].

    Science.gov (United States)

    Hristova, R; Hadjidekov, G

    2011-01-01

    The following presents cases from the gynaecological practice which resulted in a surgical intervention due to the detection of cystic formations of origin out of the reproductive system. Although rare, Tarlov cyst has its place in the differential diagnostic plan of ovarian formations. MRI scan remains an alternative to the ultrasound imagery and is the main diagnostic method for obtaining the right diagnosis. This further aids the set of actions appropriate with patients suffering from Tarlov cyst. Thus, unnecessary abdominal surgical interventions are not to be undertaken.

  9. Defining the clinical outcome status (COS) in sarcoidosis: results of WASOG Task Force.

    Science.gov (United States)

    Baughman, R P; Nagai, S; Balter, M; Costabel, U; Drent, M; du Bois, R; Grutters, J C; Judson, M A; Lambiri, I; Lower, E E; Muller-Quernheim, J; Prasse, A; Rizzato, G; Rottoli, P; Spagnolo, P; Teirstein, A

    2011-07-01

    The clinical outcome of sarcoidosis is quite variable. Several scoring systems have been used to assess the level of disease and clinical outcome. The definition of clinical phenotypes has become an important goal as genetic studies have identified distinct genotypes associated with different clinical phenotypes. In addition, treatment strategies have been developed for patients with resolving versus non resolving disease. A task force was established by the World Association of Sarcoidosis and Other Granulomatous diseases (WASOG) to define clinical phenotypes of the disease based on the clinical outcome status (COS). The committee chose to examine patients five years after diagnosis to determine the COS. Several features of the disease were incorporated into the final nine categories of the disease. These included the current or past need for systemic therapy, the resolution of the disease, and current status of the condition. Sarcoidosis patients who were African American or older were likely to have a higher COS, indicating more chronic disease. The COS may be useful in future studies of sarcoidosis.

  10. [Clinical decision making and critical thinking in the nursing diagnostic process].

    Science.gov (United States)

    Müller-Staub, Maria

    2006-10-01

    The daily routine requires complex thinking processes of nurses, but clinical decision making and critical thinking are underestimated in nursing. A great demand for educational measures in clinical judgement related with the diagnostic process was found in nurses. The German literature hardly describes nursing diagnoses as clinical judgements about human reactions on health problems / life processes. Critical thinking is described as an intellectual, disciplined process of active conceptualisation, application and synthesis of information. It is gained through observation, experience, reflection and communication and leads thinking and action. Critical thinking influences the aspects of clinical decision making a) diagnostic judgement, b) therapeutic reasoning and c) ethical decision making. Human reactions are complex processes and in their course, human behavior is interpreted in the focus of health. Therefore, more attention should be given to the nursing diagnostic process. This article presents the theoretical framework of the paper "Clinical decision making: Fostering critical thinking in the nursing diagnostic process through case studies".

  11. Comparison of clinical judgment and diagnostic ultrasonography in the diagnosis of acute appendicitis

    DEFF Research Database (Denmark)

    Jahn, H; Mathiesen, F K; Neckelmann, K

    1997-01-01

    OBJECTIVE: To evaluate the diagnostic accuracy of clinical judgment and diagnostic ultrasonography (US) used routinely and to create a scoring system to aid diagnosis. DESIGN: Prospective, double-blind study. SETTING: University hospital, Denmark. SUBJECTS: 222 Consecutive patients suspected...... to create a scoring system. MAIN OUTCOME MEASURES: Results of surgical pathological findings, clinical outcome (observed group), diagnostic US, and values of diagnostic score. RESULTS: The decision to operate was made by a junior surgeon solely on the clinical examination, which yielded a diagnostic......%. Of the 21 predictive factors for acute appendicitis 11 were significant (p 10 x 10[9]/1), migration of pain to the right lower quadrant, gradual onset of pain, increasing intensity of pain, pain aggravated by movement, pain aggravated by coughing, anorexia, vomiting...

  12. Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

    Science.gov (United States)

    Ferre, Elise M.N.; Rose, Stacey R.; Rosenzweig, Sergio D.; Burbelo, Peter D.; Romito, Kimberly R.; Niemela, Julie E.; Rosen, Lindsey B.; Break, Timothy J.; Gu, Wenjuan; Hunsberger, Sally; Browne, Sarah K.; Hsu, Amy P.; Rampertaap, Shakuntala; Swamydas, Muthulekha; Collar, Amanda L.; Kong, Heidi H.; Chascsa, David; Simcox, Thomas; Pham, Angela; Bondici, Anamaria; Natarajan, Mukil; Monsale, Joseph; Kleiner, David E.; Quezado, Martha; Alevizos, Ilias; Moutsopoulos, Niki M.; Yockey, Lynne; Frein, Cathleen; Soldatos, Ariane; Calvo, Katherine R.; Adjemian, Jennifer; Similuk, Morgan N.; Lang, David M.; Stone, Kelly D.; Uzel, Gulbu; Bishop, Rachel J.; Holland, Steven M.; Olivier, Kenneth N.; Fleisher, Thomas A.; Heller, Theo; Winer, Karen K.

    2016-01-01

    Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE mutations. It classically presents with chronic mucocutaneous candidiasis and autoimmunity that primarily targets endocrine tissues; hypoparathyroidism and adrenal insufficiency are most common. Developing any two of these classic triad manifestations establishes the diagnosis. Although widely recognized in Europe, where nonendocrine autoimmune manifestations are uncommon, APECED is less defined in patients from the Western Hemisphere. We enrolled 35 consecutive American APECED patients (33 from the US) in a prospective observational natural history study and systematically examined their genetic, clinical, autoantibody, and immunological characteristics. Most patients were compound heterozygous; the most common AIRE mutation was c.967_979del13. All but one patient had anti–IFN-ω autoantibodies, including 4 of 5 patients without biallelic AIRE mutations. Urticarial eruption, hepatitis, gastritis, intestinal dysfunction, pneumonitis, and Sjögren’s-like syndrome, uncommon entities in European APECED cohorts, affected 40%–80% of American cases. Development of a classic diagnostic dyad was delayed at mean 7.38 years. Eighty percent of patients developed a median of 3 non-triad manifestations before a diagnostic dyad. Only 20% of patients had their first two manifestations among the classic triad. Urticarial eruption, intestinal dysfunction, and enamel hypoplasia were prominent among early manifestations. Patients exhibited expanded peripheral CD4+ T cells and CD21loCD38lo B lymphocytes. In summary, American APECED patients develop a diverse syndrome, with dramatic enrichment in organ-specific nonendocrine manifestations starting early in life, compared with European patients. Incorporation of these new manifestations into American diagnostic criteria would accelerate diagnosis by approximately 4 years and

  13. The Added Value of the Combined Use of the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule: Diagnostic Validity in a Clinical Swedish Sample of Toddlers and Young Preschoolers

    Science.gov (United States)

    Zander, Eric; Sturm, Harald; Bölte, Sven

    2015-01-01

    The diagnostic validity of the new research algorithms of the Autism Diagnostic Interview-Revised and the revised algorithms of the Autism Diagnostic Observation Schedule was examined in a clinical sample of children aged 18-47 months. Validity was determined for each instrument separately and their combination against a clinical consensus…

  14. Protease activity measurement in milk as a diagnostic test for clinical mastitis in dairy cows

    NARCIS (Netherlands)

    Koop, G.; Werven, van T.; Roffel, S.; Hogeveen, H.; Nazmi, K.; Bikker, F.J.

    2015-01-01

    Due to the increasing use of automated milking systems, automated detection of clinical mastitis is becoming more important. Various in- or on-line diagnostic tests are in use, but generally suffer from false mastitis alerts. In this study, we explored a new diagnostic approach based on measureme

  15. Companion diagnostics and molecular imaging-enhanced approaches for oncology clinical trials.

    Science.gov (United States)

    Van Heertum, Ronald L; Scarimbolo, Robert; Ford, Robert; Berdougo, Eli; O'Neal, Michael

    2015-01-01

    In the era of personalized medicine, diagnostic approaches are helping pharmaceutical and biotechnology sponsors streamline the clinical trial process. Molecular assays and diagnostic imaging are routinely being used to stratify patients for treatment, monitor disease, and provide reliable early clinical phase assessments. The importance of diagnostic approaches in drug development is highlighted by the rapidly expanding global cancer diagnostics market and the emergent attention of regulatory agencies worldwide, who are beginning to offer more structured platforms and guidance for this area. In this paper, we highlight the key benefits of using companion diagnostics and diagnostic imaging with a focus on oncology clinical trials. Nuclear imaging using widely available radiopharmaceuticals in conjunction with molecular imaging of oncology targets has opened the door to more accurate disease assessment and the modernization of standard criteria for the evaluation, staging, and treatment responses of cancer patients. Furthermore, the introduction and validation of quantitative molecular imaging continues to drive and optimize the field of oncology diagnostics. Given their pivotal role in disease assessment and treatment, the validation and commercialization of diagnostic tools will continue to advance oncology clinical trials, support new oncology drugs, and promote better patient outcomes.

  16. The value of clinical and laboratory diagnostics for chest pain patients at the emergency department

    NARCIS (Netherlands)

    Jellema, Laurens-Jan C.; Backus, Barbra E.; Six, A. Jacob; Braam, Richard; Groenemeijer, Bjorn; van der Zaag-Loonen, Hester J.; Tio, Rene; van Suijlen, Jeroen D. E.

    2014-01-01

    Background: The focus during the diagnostic process for patients with acute chest pain is to discriminate patients who can be safely discharged from those who are at risk for an acute coronary syndrome (ACS). In this study the diagnostic value of the clinical examination is compared with laboratory

  17. The asthma–COPD overlap syndrome: how is it defined and what are its clinical implications?

    Directory of Open Access Journals (Sweden)

    van den Berge M

    2016-02-01

    Full Text Available Maarten van den Berge,1,2 René Aalbers,31Department of Pulmonary Diseases, University Medical Center Groningen, University of Groningen, 2GRIAC Research Institute, University Medical Center Groningen, University of Groningen, 3Department of Pulmonary Diseases, Martini Hospital, Groningen, the Netherlands Abstract: It is increasingly recognized that both asthma and chronic obstructive pulmonary disease (COPD are heterogeneous diseases with a large inter-individual variability with respect to their clinical expression, disease progression, and responsiveness to the available treatments. The introduction of asthma–COPD overlap syndrome (ACOS may lead to a better clinical characterization and improved treatment of patients with obstructive airways disease. However, it is still in its early phase and several improvements will have to be made. First, a clear definition of ACOS and preferably also its sub-phenotypes, eg, asthma–ACOS and COPD–ACOS, is urgently needed. That would also allow researchers to design clinical studies in well-defined patients. The latter is important since the interpretation of clinical studies performed so far is hampered by the use of many different definitions of ACOS. Second, future studies are needed to investigate the role of state-of-the-art techniques such as computed tomography, genetics, and genomics in the phenotyping of patients with obstructive airways disease, ie, asthma, COPD, and ACOS. Third, longitudinal studies are now needed to better define the clinical implications of ACOS with respect to the long-term outcome and treatment of ACOS and its sub-phenotypes compared to only asthma or COPD. Keywords: ACOS, asthma, COPD, inflammation, remodeling, overlap phenotype

  18. Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes.

    Directory of Open Access Journals (Sweden)

    Hilgo Bruining

    Full Text Available BACKGROUND: The etiology of autism spectrum disorders (ASD is largely determined by different genetic factors of variable impact. This genetic heterogeneity could be a factor to explain the clinical heterogeneity of autism spectrum disorders. Here, a first attempt is made to assess whether genetically more homogeneous ASD groups are associated with decreased phenotypic heterogeneity with respect to their autistic symptom profile. METHODOLOGY: The autistic phenotypes of ASD subjects with 22q11 deletion syndrome (22q11DS and ASD subjects with Klinefelter Syndrome (KS were statistically compared to the symptom profile of a large (genetically heterogeneous ASD sample. Autism diagnostic interview-revised (ADI-R variables were entered in different statistical analyses to assess differences in symptom homogeneity and the feasibility of discrimination of group-specific ASD-symptom profiles. PRINCIPAL FINDINGS: The results showed substantially higher symptom homogeneity in both the genetic disorder ASD groups in comparison to the heterogeneous ASD sample. In addition, a robust discrimination between 22q11-ASD and KS-ASD and idiopathic ASD phenotypes was feasible on the basis of a reduced number of autistic scales and symptoms. The lack of overlap in discriminating subscales and symptoms between KS-ASD and 22q11DS-ASD suggests that their autistic symptom profiles cluster around different points in the total diagnostic space of profiles present in the general ASD population. CONCLUSION: The findings of the current study indicate that the clinical heterogeneity of ASDs may be reduced when subgroups based on a specific genotype are extracted from the idiopathic ASD population. The current strategy involving the widely used ADI-R offers a relatively straightforward possibility for assessing genotype-phenotype ASD relationships. Reverse phenotype strategies are becoming more feasible, given the accumulating evidence for the existence of genetic variants of

  19. Complement analysis 2016: Clinical indications, laboratory diagnostics and quality control.

    Science.gov (United States)

    Prohászka, Zoltán; Nilsson, Bo; Frazer-Abel, Ashley; Kirschfink, Michael

    2016-11-01

    In recent years, complement analysis of body fluids and biopsies, going far beyond C3 and C4, has significantly enhanced our understanding of the disease process. Such expanded complement analysis allows for a more precise differential diagnosis and for critical monitoring of complement-targeted therapy. These changes are a result of the growing understanding of the involvement of complement in a diverse set of disorders. To appreciate the importance of proper complement analysis, it is important to understand the role it plays in disease. Historically, it was the absence of complement as manifested in severe infection that was noted. Since then complement has been connected to a variety of inflammatory disorders, such as autoimmune diseases and hereditary angioedema. While the role of complement in the rejection of renal grafts has been known longer, the significant impact of complement. In certain nephropathies has now led to the reclassification of some rare kidney diseases and an increased role for complement analysis in diagnosis. Even more unexpected is that complement has also been implicated in neural, ophtalmological and dermatological disorders. With this level of involvement in some varied and impactful health issues proper complement testing is clearly important; however, analysis of the complement system varies widely among laboratories. Except for a few proteins, such as C3 and C4, there are neither well-characterized standard preparations nor calibrated assays available. This is especially true for the inter-laboratory variation of tests which assess classical, alternative, or lectin pathway function. In addition, there is a need for the standardization of the measurement of complement activation products that are so critical in determining whether clinically relevant complement activation has occurred in vivo. Finally, autoantibodies to complement proteins (e.g. anti-C1q), C3 and C4 convertases (C3 and C4 nephritic factor) or to regulatory proteins

  20. Vectorcardiographic diagnostic & prognostic information derived from the 12-lead electrocardiogram: Historical review and clinical perspective.

    Science.gov (United States)

    Man, Sumche; Maan, Arie C; Schalij, Martin J; Swenne, Cees A

    2015-01-01

    In the course of time, electrocardiography has assumed several modalities with varying electrode numbers, electrode positions and lead systems. 12-lead electrocardiography and 3-lead vectorcardiography have become particularly popular. These modalities developed in parallel through the mid-twentieth century. In the same time interval, the physical concepts underlying electrocardiography were defined and worked out. In particular, the vector concept (heart vector, lead vector, volume conductor) appeared to be essential to understanding the manifestations of electrical heart activity, both in the 12-lead electrocardiogram (ECG) and in the 3-lead vectorcardiogram (VCG). Not universally appreciated in the clinic, the vectorcardiogram, and with it the vector concept, went out of use. A revival of vectorcardiography started in the 90's, when VCGs were mathematically synthesized from standard 12-lead ECGs. This facilitated combined electrocardiography and vectorcardiography without the need for a special recording system. This paper gives an overview of these historical developments, elaborates on the vector concept and seeks to define where VCG analysis/interpretation can add diagnostic/prognostic value to conventional 12-lead ECG analysis.

  1. Developing computational model-based diagnostics to analyse clinical chemistry data

    NARCIS (Netherlands)

    Schalkwijk, D.B. van; Bochove, K. van; Ommen, B. van; Freidig, A.P.; Someren, E.P. van; Greef, J. van der; Graaf, A.A. de

    2010-01-01

    This article provides methodological and technical considerations to researchers starting to develop computational model-based diagnostics using clinical chemistry data.These models are of increasing importance, since novel metabolomics and proteomics measuring technologies are able to produce large

  2. Using the Revised Bloom's Taxonomy in the clinical laboratory: thinking skills involved in diagnostic reasoning.

    Science.gov (United States)

    Su, Whei Ming; Osisek, Paul J; Starnes, Beth

    2005-01-01

    Achieving effective transfer of theoretical knowledge to clinical practice requires knowledge of thinking paradigms in relation to specific nursing content. It is a challenge to develop instructional designs for teaching and assessing implicit thought processes involved in clinical reasoning. The authors demonstrate the use of the Revised Bloom's Taxonomy to teach thinking skills involved in diagnostic reasoning in a clinical laboratory.

  3. Implementation of a companion diagnostic in the clinical laboratory

    DEFF Research Database (Denmark)

    Mancini, Irene; Pinzani, Pamela; Simi, Lisa

    2015-01-01

    A companion diagnostic test provides information that is essential for the safe and effective use of a corresponding therapeutic product as indicated in the drug instructions. The implementation of a companion diagnostic follows the rules of a molecular test for somatic mutations in a routine...... of mutation under study, the sample to be assayed and its preparation procedure. In addition, the results of a molecular assay require a complex interpretation process of the analytical data as the patient's genotype, the translation of the identified variant into a predicted phenotype and knowledge......, as an example, the BRAF genotype analysis in tumor tissue samples for identification of melanoma patients that can benefit treatment with BRAF inhibitors. The manuscript is focused on the following aspects: i) medical rationale, ii) methodologies of analysis, iii) laboratory performance evaluation and iv...

  4. Interesting clinical presentation of anterior knee pain causing diagnostic dilemma.

    Science.gov (United States)

    Morgan, Samer S; Balasubramanian, S; Teanby, D

    2009-09-01

    A diverse variety of lesions may occasionally occur in the patella. In this case report, we are presenting an interesting case of anterior knee pain in middle aged gentleman. Initial investigations including Magnetic Resonance Imaging not showed any abnormality. Due to prolonged continued pain he had bone scan and MRI, which confirmed the diagnosis of Brodie's abscess. We are presenting this case of Brodie's abscess of the patella causing diagnostic dilemma because of its rarity.

  5. [THE RESULTS OF CLINICAL AND PSYCHOPATHOLOGICAL AND PSYCHOLOGICAL DIAGNOSTIC INVESTIGATIONS EMPLOYEES OF FINANCIAL INSTITUTIONS WHICH WERE IDENTIFIED NEUROTIC DISORDERS].

    Science.gov (United States)

    Solovyova, M

    2014-12-01

    The article presents the results of the clinical and psychopathological and psychological diagnostic, investigations mental health employees of financial institutions, description and analysis of clinical forms identified disorders.

  6. IgE Abs to Der p 1 and Der p 2 as diagnostic markers of house dust mite allergy as defined by a bronchoprovocation test

    Directory of Open Access Journals (Sweden)

    Takafumi Minami

    2015-01-01

    Conclusions: IgE to nDer p 1 and/or rDer p 2 was highly predictive of allergen-induced IAR. These findings validate the clinical usefulness of measuring the levels of IgE to nDer p 1 and rDer p 2 as a diagnostic tool for genuine HDM allergy.

  7. Pediatric Brain Tumors: Innovative Genomic Information Is Transforming the Diagnostic and Clinical Landscape.

    Science.gov (United States)

    Gajjar, Amar; Bowers, Daniel C; Karajannis, Matthias A; Leary, Sarah; Witt, Hendrik; Gottardo, Nicholas G

    2015-09-20

    Pediatric neuro-oncology has undergone an exciting and dramatic transformation during the past 5 years. This article summarizes data from collaborative group and institutional trials that have advanced the science of pediatric brain tumors and survival of patients with these tumors. Advanced genomic analysis of the entire spectrum of pediatric brain tumors has heralded an era in which stakeholders in the pediatric neuro-oncology community are being challenged to reconsider their current research and diagnostic and treatment strategies. The incorporation of this new information into the next-generation treatment protocols will unleash new challenges. This review succinctly summarizes the key advances in our understanding of the common pediatric brain tumors (ie, medulloblastoma, low- and high-grade gliomas, diffuse intrinsic pontine glioma, and ependymoma) and some selected rare tumors (ie, atypical teratoid/rhabdoid tumor and CNS primitive neuroectodermal tumor). The potential impact of this new information on future clinical protocols also is discussed. Cutting-edge genomics technologies and the information gained from such studies are facilitating the identification of molecularly defined subgroups within patients with particular pediatric brain tumors. The number of evaluable patients in each subgroup is small, particularly in the subgroups of rare diseases. Therefore, international collaboration will be crucial to draw meaningful conclusions about novel approaches to treating pediatric brain tumors. © 2015 by American Society of Clinical Oncology.

  8. 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.

  9. Using a web-based application to define the accuracy of diagnostic tests when the gold standard is imperfect.

    Science.gov (United States)

    Lim, Cherry; Wannapinij, Prapass; White, Lisa; Day, Nicholas P J; Cooper, Ben S; Peacock, Sharon J; Limmathurotsakul, Direk

    2013-01-01

    Estimates of the sensitivity and specificity for new diagnostic tests based on evaluation against a known gold standard are imprecise when the accuracy of the gold standard is imperfect. Bayesian latent class models (LCMs) can be helpful under these circumstances, but the necessary analysis requires expertise in computational programming. Here, we describe open-access web-based applications that allow non-experts to apply Bayesian LCMs to their own data sets via a user-friendly interface. Applications for Bayesian LCMs were constructed on a web server using R and WinBUGS programs. The models provided (http://mice.tropmedres.ac) include two Bayesian LCMs: the two-tests in two-population model (Hui and Walter model) and the three-tests in one-population model (Walter and Irwig model). Both models are available with simplified and advanced interfaces. In the former, all settings for Bayesian statistics are fixed as defaults. Users input their data set into a table provided on the webpage. Disease prevalence and accuracy of diagnostic tests are then estimated using the Bayesian LCM, and provided on the web page within a few minutes. With the advanced interfaces, experienced researchers can modify all settings in the models as needed. These settings include correlation among diagnostic test results and prior distributions for all unknown parameters. The web pages provide worked examples with both models using the original data sets presented by Hui and Walter in 1980, and by Walter and Irwig in 1988. We also illustrate the utility of the advanced interface using the Walter and Irwig model on a data set from a recent melioidosis study. The results obtained from the web-based applications were comparable to those published previously. The newly developed web-based applications are open-access and provide an important new resource for researchers worldwide to evaluate new diagnostic tests.

  10. Shoulder pain in primary care: diagnostic accuracy of clinical examination tests for non-traumatic acromioclavicular joint pain

    Science.gov (United States)

    2013-01-01

    Background Despite numerous methodological flaws in previous study designs and the lack of validation in primary care populations, clinical tests for identifying acromioclavicular joint (ACJ) pain are widely utilised without concern for such issues. The aim of this study was to estimate the diagnostic accuracy of traditional ACJ tests and to compare their accuracy with other clinical examination features for identifying a predominant ACJ pain source in a primary care cohort. Methods Consecutive patients with shoulder pain were recruited prospectively from primary health care clinics. Following a standardised clinical examination and diagnostic injection into the subacromial bursa, all participants received a fluoroscopically guided diagnostic block of 1% lidocaine hydrochloride (XylocaineTM) into the ACJ. Diagnostic accuracy statistics including sensitivity, specificity, predictive values, positive and negative likelihood ratios (LR+ and LR-) were calculated for traditional ACJ tests (Active Compression/O’Brien’s test, cross-body adduction, localised ACJ tenderness and Hawkins-Kennedy test), and for individual and combinations of clinical examination variables that were associated with a positive anaesthetic response (PAR) (P≤0.05) defined as 80% or more reduction in post-injection pain intensity during provocative clinical tests. Results Twenty two of 153 participants (14%) reported an 80% PAR. None of the traditional ACJ tests were associated with an 80% PAR (P0.05). Five clinical examination variables (repetitive mechanism of pain onset, no referred pain below the elbow, thickened or swollen ACJ, no symptom provocation during passive glenohumeral abduction and external rotation) were associated with an 80% PAR (P<0.05) and demonstrated an ability to accurately discriminate between an PAR and NAR (AUC 0.791; 95% CI 0.702, 0.880; P<0.001). Less than two positive clinical features resulted in 96% sensitivity (95% CI 0.78, 0.99) and a LR- 0.09 (95% CI 0.02, 0

  11. Adipose Tissue Dysfunction : Clinical Relevance and Diagnostic Possibilities

    NARCIS (Netherlands)

    Schrover, I. M.; Spiering, W.; Leiner, T.; Visseren, F. L J

    2016-01-01

    Adipose tissue dysfunction is defined as an imbalance between pro- and anti-inflammatory adipokines, causing insulin resistance, systemic low-grade inflammation, hypercoagulability, and elevated blood pressure. These can lead to cardiovascular disease and diabetes mellitus type 2. Although quantity

  12. Adipose Tissue Dysfunction : Clinical Relevance and Diagnostic Possibilities

    NARCIS (Netherlands)

    Schrover, I. M.; Spiering, W.; Leiner, T.; Visseren, F. L J

    2016-01-01

    Adipose tissue dysfunction is defined as an imbalance between pro- and anti-inflammatory adipokines, causing insulin resistance, systemic low-grade inflammation, hypercoagulability, and elevated blood pressure. These can lead to cardiovascular disease and diabetes mellitus type 2. Although quantity

  13. Clinical presentation and diagnostic approach in cases of genitourinary tuberculosis

    Directory of Open Access Journals (Sweden)

    Rakesh Kapoor

    2008-01-01

    Full Text Available Objective: We herein describe the various modes of presentation in genitourinary tuberculosis (GUTB and a simple diagnostic approach to it. Materials and Methods: We made a literature search through Medline database and various other peer-reviewed online journals to study the various modes of presentation in GUTB. We reviewed over 100 articles published in the last 10 years (1998 -- 2007, which were tracked through the key words like GUTB and extrapulmonary tuberculosis. Results: GUTB has varied presentation and the most common way of presentation is in the form of irritative voiding symptoms, which are found in more than 50% of the patients. The usual frequency of organ involvement is: kidney, bladder, fallopian tube, and scrotum. The usual tests used to diagnose GUTB are the demonstration of mycobacterium in urine or body fluid and radiographic examination. Intravenous urography (IVU has been considered to be one of the most useful tests for the anatomical as well as the functional details of kidneys and ureters. In cases of renal failure, MRI can be used. Newer examinations such as radiometric liquid culture systems (i.e., BACTEC ® , Becton Dickinson,USA and polymerase chain reaction (PCR give rapid results and are highly sensitive in the identification of mycobacterium. Conclusion: GUTB can involve any part of the genitourinary system and presentation may vary from vague urinary symptoms to chronic kidney disease. Newer tests like radiometric liquid culture systems and polymerase chain reaction give rapid results and carry high diagnostic value.

  14. Defining a Bobath clinical framework - A modified e-Delphi study.

    Science.gov (United States)

    Vaughan-Graham, Julie; Cott, Cheryl

    2016-11-01

    To gain consensus within the expert International Bobath Instructors Training Association (IBITA) on a Bobath clinical framework on which future efficacy studies can be based. A three-round modified e-Delphi approach was used with 204 full members of the IBITA. Twenty-one initial statements were generated from the literature. Consensus was defined a priori as at least 80% of the respondents with a level of agreement on a Likert scale of 4 or 5. The Delphi questionnaire for each round was available online for two weeks. Summary reports and subsequent questionnaires were posted within four weeks. Ninety-four IBITA members responded, forming the Delphi panel, of which 68 and 66 responded to Rounds Two and Three, respectively. The 21 initial statements were revised to 17 statements and five new statements in Round Two in which eight statements were accepted and two statements were eliminated. Round Three presented 12 revised statements, all reaching consensus. The Delphi was successful in gaining consensus on a Bobath clinical framework in a geographically diverse expert association, identifying the unique components of Bobath clinical practice. Discussion throughout all three Rounds revolved primarily around the terminology of atypical and compensatory motor behavior and balance.

  15. Diagnostic Consideration for Sinonasal Wegener's Granulomatosis Clinically Mistaken for Carcinoma

    Science.gov (United States)

    La Rosa, Cristina; Emmanuele, Carmela; Tranchina, Maria Grazia; Ippolito, Massimo; Cosentino, Sebastiano; Saita, Vincenzo; Fraggetta, Filippo

    2013-01-01

    We report a case of Wegener's granulomatosis clinically mistaken for carcinoma in a 21-year-old girl presenting with an ulcerated mass of the nasopharynx associated with enlarged laterocervical nodes. The lesion was clinically suspected as malignant on the basis of clinical and radiological findings (namely, computed tomography scan and positron emission tomography). However, multiple biopsies were not conclusive for malignancy showing histological change suggestive of Wegener's granulomatosis. A serum determination of cANCA supported the diagnosis of Wegener's granulomatosis. Clinical findings and image studies suggested an erroneous diagnosis of malignancy whereas a definitive diagnosis of Wegener's granulomatosis was achieved only after repeated biopsies thus leading to a correct therapeutic approach. The Wegener granulomatosis must be added to the list of the differential diagnoses of the masses of the nasopharynx associated with or without enlarged laterocervical nodes. PMID:24106630

  16. The clinical features of mania and their representation in modern diagnostic criteria.

    Science.gov (United States)

    Kendler, K S

    2017-04-01

    This review seeks to determine the degree to which modern operationalized diagnostic criteria for mania reflect the clinical features of mania described historically by expert textbook authors. Clinical descriptions of mania appearing in 18 textbooks published between 1899 and 1956 were reviewed and compared to the criteria for mania from six modern operationalized diagnostic systems. Twenty-two prominent symptoms and signs were reported by five or more authors. Two symptoms (elevated mood and grandiosity) and four signs (hyperactivity, pressured speech, irritability, and new activities with painful consequences) were reported by every author. A strong relationship was seen between the frequency with which the clinical features were reported and the likelihood of their inclusion in modern diagnostic systems. However, many symptoms and signs including impulsivity, hypersexuality, mood lability, altered moral standards, increased humor, hypergraphia, and a vigorous physical appearance were not included in any modern criteria. Indeed, DSM-5 contains only eight of the historically noted clinical features. We conclude that modern operationalized criteria for mania well reflect symptoms and signs frequently reported by historical experts. This suggests that the clinical construct of mania has been relatively stable in western Psychiatry since the turn of the 20th century. However, many useful clinical features of mania described in these textbooks are missing from these criteria thereby illustrating the limitations of clinical evaluations restricted to the assessment of only current diagnostic criteria. The disorders we study and treat are considerably richer clinically than is reflected in the DSM criteria which we use to diagnose them.

  17. Schizoaffective disorder-- the reliability of its clinical diagnostic use

    DEFF Research Database (Denmark)

    Vollmer-Larsen, Anne; Jacobsen, TB; Hemmingsen, R;

    2006-01-01

    OBJECTIVE: Patients with psychoses often suffer from affective symptoms. The originally broad concept of schizoaffective disorder (SAD) has been significantly narrowed, transformed into a convoluted set of criteria both in the ICD-10 and DSM-IV. We examined the reliability of the clinical use....... Diagnoses were allocated by OPCRIT algorithm and by consensus of two psychiatrists. RESULTS: No patients fulfilled the SAD lifetime diagnosis according to DSM-IV criteria and the raters diagnosed only six patients as possible ICD-10 SAD. CONCLUSION: A moratorium on the clinical use of the SAD diagnosis...

  18. Ectopic pancreas in gallbladder: clinical significance, diagnostic and therapeutic implications

    Directory of Open Access Journals (Sweden)

    Elena M. Sanchiz-Cárdenas

    2015-11-01

    Full Text Available Ectopic or heterotopic pancreas is defined as the presence of pancreatic tissue in an anatomical place not related to the pancreas, being it most frequent locations the stomach and small bowel. Its finding in the gallbladder is exceptional. Since the first case was reported by Otschkin in 1916, about 30 cases have been described in literature. We report the case of a 43 years-old male patient who had an urgent laparoscopic cholecystectomy with the diagnosis of acute cholecystitis, which pathological study showed the existence of chronic cholecystitis with heterotopic pancreatic tissue in the gallbladder wall.

  19. Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

    Science.gov (United States)

    Zilina, Olga; Teek, Rita; Tammur, Pille; Kuuse, Kati; Yakoreva, Maria; Vaidla, Eve; Mölter-Väär, Triin; Reimand, Tiia; Kurg, Ants; Ounap, Katrin

    2014-03-01

    Chromosomal microarray analysis (CMA) is now established as the first-tier cytogenetic diagnostic test for fast and accurate detection of chromosomal abnormalities in patients with developmental delay/intellectual disability (DD/ID), multiple congenital anomalies (MCA), and autism spectrum disorders (ASD). We present our experience with using CMA for postnatal and prenatal diagnosis in Estonian patients during 2009-2012. Since 2011, CMA is on the official service list of the Estonian Health Insurance Fund and is performed as the first-tier cytogenetic test for patients with DD/ID, MCA or ASD. A total of 1191 patients were analyzed, including postnatal (1072 [90%] patients and 59 [5%] family members) and prenatal referrals (60 [5%] fetuses). Abnormal results were reported in 298 (25%) patients, with a total of 351 findings (1-3 per individual): 147 (42%) deletions, 106 (30%) duplications, 89 (25%) long contiguous stretches of homozygosity (LCSH) events (>5 Mb), and nine (3%) aneuploidies. Of all findings, 143 (41%) were defined as pathogenic or likely pathogenic; for another 143 findings (41%), most of which were LCSH, the clinical significance remained unknown, while 61 (18%) reported findings can now be reclassified as benign or likely benign. Clinically relevant findings were detected in 126 (11%) patients. However, the proportion of variants of unknown clinical significance was quite high (41% of all findings). It seems that our ability to detect chromosomal abnormalities has far outpaced our ability to understand their role in disease. Thus, the interpretation of CMA findings remains a rather difficult task requiring a close collaboration between clinicians and cytogeneticists.

  20. Diagnostic value of urinary dysmorphic erythrocytes in clinical practice

    NARCIS (Netherlands)

    M.J. Crop (Meindert); Y.B. de Rijke (Yolanda); P.C.M.S. Verhagen (Paul); K. Cransberg (Karlien); R. Zietse (Bob)

    2010-01-01

    textabstractBackground: In clinical practice, discriminating between glomerular and nonglomerular causes of hematuria is often difficult. Dysmorphic red blood cells (dRBC) in the urinary sediment are claimed to be effective, but the cutoff points in the literature vary. This follow-up study aimed to

  1. Schizoaffective disorder-- the reliability of its clinical diagnostic use

    DEFF Research Database (Denmark)

    Vollmer-Larsen, Anne; Jacobsen, TB; Hemmingsen, R

    2006-01-01

    OBJECTIVE: Patients with psychoses often suffer from affective symptoms. The originally broad concept of schizoaffective disorder (SAD) has been significantly narrowed, transformed into a convoluted set of criteria both in the ICD-10 and DSM-IV. We examined the reliability of the clinical use...

  2. Subjective experiences in psychotic disorders: diagnostic value and clinical correlates.

    Science.gov (United States)

    Peralta, V; Cuesta, M J

    1998-01-01

    This study evaluated the prevalence and clinical correlates of abnormal subjective experiences across functional psychotic disorders. Patients were recruited from consecutive admissions with the following diagnoses; schizophrenia (n = 40), schizophreniform disorder (n = 40), schizoaffective disorder (n = 21), mood disorder (n = 18), brief reactive psychosis (n = 15), and atypical psychosis (n = 16). Subjective experiences were assessed using the Frankfurt Complaint Questionnaire (FCQ), and the clinical status was assessed with the Scales for the Assessment of Positive and Negative Symptoms (SAPS and SANS) and the Manual for the Assessment and Documentation of Psychopathology (AMDP). Neither the FCQ total score nor individual subjective experiences displayed significant differences across diagnoses. When the clinical predictors of subjective experiences were studied by multiple regression analyses, a different pattern resulted for individual psychotic disorders. In schizophrenic patients, subjective experiences were predicted by female gender, euphoria, lack of insight, greater illness severity, and more positive symptoms. The only predictors of subjective experiences in the schizophreniform disorder group were the negative symptoms. Within the affective disorders group, subjective experiences had no clinical predictors.

  3. Clinical and diagnostic aspects of gluten related disorders.

    Science.gov (United States)

    Tovoli, Francesco; Masi, Chiara; Guidetti, Elena; Negrini, Giulia; Paterini, Paola; Bolondi, Luigi

    2015-03-16

    Gluten is one of the most abundant and widely distributed components of food in many areas. It can be included in wheat, barley, rye, and grains such as oats, barley, spelt, kamut, and triticale. Gluten-containing grains are widely consumed; in particular, wheat is one of the world's primary sources of food, providing up to 50% of the caloric intake in both industrialized and developing countries. Until two decades ago, celiac disease (CD) and other gluten-related disorders were believed to be exceedingly rare outside of Europe and were relatively ignored by health professionals and the global media. In recent years, however, the discovery of important diagnostic and pathogenic milestones led CD from obscurity to global prominence. In addition, interestingly, people feeding themselves with gluten-free products greatly outnumber patients affected by CD, fuelling a global consumption of gluten-free foods with approximately $2.5 billion in United States sales each year. The acknowledgment of other medical conditions related to gluten that has arisen as health problems, providing a wide spectrum of gluten-related disorders. In February 2011, a new nomenclature for gluten-related disorders was created at a consensus conference in London. In this review, we analyse innovations in the field of research that emerged after the creation of the new classification, with particular attention to the new European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines for CD and the most recent research about non-celiac gluten sensitivity.

  4. High-throughput cell analysis and sorting technologies for clinical diagnostics and therapeutics

    Science.gov (United States)

    Leary, James F.; Reece, Lisa M.; Szaniszlo, Peter; Prow, Tarl W.; Wang, Nan

    2001-05-01

    A number of theoretical and practical limits of high-speed flow cytometry/cell sorting are important for clinical diagnostics and therapeutics. Three applications include: (1) stem cell isolation with tumor purging for minimal residual disease monitoring and treatment, (2) identification and isolation of human fetal cells from maternal blood for prenatal diagnostics and in-vitro therapeutics, and (3) high-speed library screening for recombinant vaccine production against unknown pathogens.

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

    Science.gov (United States)

    Joensen, K G; Engsbro, A L Ø; Lukjancenko, O; Kaas, R S; Lund, O; Westh, H; Aarestrup, F M

    2017-03-11

    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. DNA was extracted from faecal samples and sequenced on the Illumina MiSeq system. Species distribution was determined with MGmapper and NGS-based diagnostic prediction was performed based on the relative abundance of pathogenic bacteria and Giardia and detection of pathogen-specific virulence genes. NGS-based diagnostic results were compared to conventional findings for 55 of the diarrhoeal samples; 38 conventionally positive for bacterial pathogens, two positive for Giardia, four positive for virus and 11 conventionally negative. The NGS-based approach enabled detection of the same bacterial pathogens as the classical approach in 34 of the 38 conventionally positive bacterial samples and predicted the responsible pathogens in five of the 11 conventionally negative samples. Overall, the NGS-based approach enabled pathogen detection comparable to conventional diagnostics and the approach has potential to be extended for the detection of all pathogens. At present, however, this approach is too expensive and time-consuming for routine diagnostics.

  6. CLINICAL DIAGNOSTIC VALUE OF AUTOANTIBODIES IN THE DIAGNOSIS OF AUTOIMMUNE LIVER DISEASES

    Directory of Open Access Journals (Sweden)

    V. V. Bazarnyi

    2015-01-01

    Full Text Available We are studied the 15 patients with autoimmune liver diseases and 36 patients without autoimmune pathology found the diagnostic value of antinuclear and antimitochondrial autoantibodies (AMA-M2 tests, and antibodies to asialoglycoprotein receptor (anti-ASGPR. Based on the ROC analysis showed that the diagnostic sensitivity and diagnostic specificity of AMA-M2 was 73% and 100% and for anti-ASGPR – 60% and 77%, respectively. Therefore, the test for anti-ASGPR in autoimmune diseases of the liver showed no advantages over standart tests, and its using in clinical practice requires clarification. 

  7. Diagnostic accuracy of clinical tests for the diagnosis of hip femoroacetabular impingement/labral tear

    DEFF Research Database (Denmark)

    Reiman, M P; Goode, A P; Cook, C E;

    2015-01-01

    to summarise sensitivities (SN), specificities (SP), diagnostic odds ratio (DOR) and respective confidence intervals (CI). RESULTS: The employed search strategy revealed 21 potential articles, with one demonstrating high quality. Nine articles qualified for meta-analysis. The meta-analysis demonstrated...... surgical decision-making. OBJECTIVE: Summarise/evaluate the current diagnostic accuracy of various clinical tests germane to hip FAI/ALT pathology. METHODS: A computer-assisted literature search of MEDLINE, CINAHL and EMBASE databases using keywords related to diagnostic accuracy of the hip joint, as well...

  8. Bacteriophages in clinical samples can interfere with microbiological diagnostic tools.

    Science.gov (United States)

    Brown-Jaque, Maryury; Muniesa, Maite; Navarro, Ferran

    2016-09-09

    Bacteriophages are viruses that infect bacteria, and they are found everywhere their bacterial hosts are present, including the human body. To explore the presence of phages in clinical samples, we assessed 65 clinical samples (blood, ascitic fluid, urine, cerebrospinal fluid, and serum). Infectious tailed phages were detected in >45% of ascitic fluid and urine samples. Three examples of phage interference with bacterial isolation were observed. Phages prevented the confluent bacterial growth required for an antibiogram assay when the inoculum was taken from an agar plate containing lysis plaques, but not when taken from a single colony in a phage-free area. In addition, bacteria were isolated directly from ascitic fluid, but not after liquid enrichment culture of the same samples, since phage propagation lysed the bacteria. Lastly, Gram-negative bacilli observed in a urine sample did not grow on agar plates due to the high densities of infectious phages in the sample.

  9. Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma.

    Science.gov (United States)

    Jamroz, Ewa; Paprocka, Justyna; Adamek, Dariusz; Pytel, Justyna; Szczechowska, Katarzyna; Grabska, Natalia; Malec, Michalina; Głuszkiewicz, Ewa; Daab, Michał; Wodołażski, Anatolij

    2011-01-01

    Increased ethylmalonic acid (EMA) in urine is a non-specific finding, and is observed in a number of inborn errors of metabolism, as well as in individuals who carry one of two common polymorphisms identified in the SCAD coding region. The authors present an 8-month-old girl with a suspicion of neuroinfection, although the clinical presentation led to diagnosis of ethylmalonic aciduria. From the neuropathological point of view the most remarkable changes were observed in the brain cortex, which was diffusely damaged practically in all regions of the brain. Of note, the most severe destruction was observed in the deepest regions of the sulci. The cortex of the affected regions showed no normal stratification and its structure was almost totally replaced by a form of "granulation tissue" with a markedly increased number of capillaries. To the authors' knowledge this is the first clinical report of ethylmalonic aciduria with brain autopsy findings.

  10. Bacteriophages in clinical samples can interfere with microbiological diagnostic tools

    Science.gov (United States)

    Brown-Jaque, Maryury; Muniesa, Maite; Navarro, Ferran

    2016-01-01

    Bacteriophages are viruses that infect bacteria, and they are found everywhere their bacterial hosts are present, including the human body. To explore the presence of phages in clinical samples, we assessed 65 clinical samples (blood, ascitic fluid, urine, cerebrospinal fluid, and serum). Infectious tailed phages were detected in >45% of ascitic fluid and urine samples. Three examples of phage interference with bacterial isolation were observed. Phages prevented the confluent bacterial growth required for an antibiogram assay when the inoculum was taken from an agar plate containing lysis plaques, but not when taken from a single colony in a phage-free area. In addition, bacteria were isolated directly from ascitic fluid, but not after liquid enrichment culture of the same samples, since phage propagation lysed the bacteria. Lastly, Gram-negative bacilli observed in a urine sample did not grow on agar plates due to the high densities of infectious phages in the sample. PMID:27609086

  11. Schizoaffective disorder-- the reliability of its clinical diagnostic use

    DEFF Research Database (Denmark)

    Vollmer-Larsen, Anne; Jacobsen, TB; Hemmingsen, R

    2006-01-01

    OBJECTIVE: Patients with psychoses often suffer from affective symptoms. The originally broad concept of schizoaffective disorder (SAD) has been significantly narrowed, transformed into a convoluted set of criteria both in the ICD-10 and DSM-IV. We examined the reliability of the clinical use...... of this diagnosis in university settings. METHOD: All patients discharged from two university hospitals in Copenhagen in year 2002 with a diagnosis of ICD-10 SAD (n = 59) were re-evaluated using the Operational Criteria (OPCRIT) checklist expanded by additional items and applied to hospital chart material....... Diagnoses were allocated by OPCRIT algorithm and by consensus of two psychiatrists. RESULTS: No patients fulfilled the SAD lifetime diagnosis according to DSM-IV criteria and the raters diagnosed only six patients as possible ICD-10 SAD. CONCLUSION: A moratorium on the clinical use of the SAD diagnosis...

  12. Clinical aspects of MR colonography as a diagnostic tool

    DEFF Research Database (Denmark)

    Achiam, Michael

    2010-01-01

    Since first described in 1997, MR colonography (MRC) has since been labelled as a promising new, non-invasive technique for examining the colon. At present time, the examination is ready to be implemented as a supplement to incomplete colonoscopy or preoperative colonic evaluation. Furthermore, MRC...... and that polypectomy might be curative. Colonoscopy remains the gold standard for full colon evaluation. However, the result of our studies can justify clinical use of MRC on selected indications, e.g. in the cases where colonoscopy is incomplete or technically difficult. Since up to 54% of all preoperative colon...... evaluations in patients with colorectal cancer and up to 17-23% of regular colonoscopies are incomplete, the clinical potential of MRC is evident. Furthermore, in our studies we have shown the insufficiency of preoperative colonic evaluation by CC. In addition, considering the invasiveness, the serious...

  13. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

    Science.gov (United States)

    Yavarna, Tarunashree; Al-Dewik, Nader; Al-Mureikhi, Mariam; Ali, Rehab; Al-Mesaifri, Fatma; Mahmoud, Laila; Shahbeck, Noora; Lakhani, Shenela; AlMulla, Mariam; Nawaz, Zafar; Vitazka, Patrik; Alkuraya, Fowzan S; Ben-Omran, Tawfeg

    2015-09-01

    Clinical exome sequencing (CES) has become an increasingly popular diagnostic tool in patients with heterogeneous genetic disorders, especially in those with neurocognitive phenotypes. Utility of CES in consanguineous populations has not yet been determined on a large scale. A clinical cohort of 149 probands from Qatar with suspected Mendelian, mainly neurocognitive phenotypes, underwent CES from July 2012 to June 2014. Intellectual disability and global developmental delay were the most common clinical presentations but our cohort displayed other phenotypes, such as epilepsy, dysmorphism, microcephaly and other structural brain anomalies and autism. A pathogenic or likely pathogenic mutation, including pathogenic CNVs, was identified in 89 probands for a diagnostic yield of 60%. Consanguinity and positive family history predicted a higher diagnostic yield. In 5% (7/149) of cases, CES implicated novel candidate disease genes (MANF, GJA9, GLG1, COL15A1, SLC35F5, MAGE4, NEUROG1). CES uncovered two coexisting genetic disorders in 4% (6/149) and actionable incidental findings in 2% (3/149) of cases. Average time to diagnosis was reduced from 27 to 5 months. CES, which already has the highest diagnostic yield among all available diagnostic tools in the setting of Mendelian disorders, appears to be particularly helpful diagnostically in the highly consanguineous Middle Eastern population.

  14. Kinematic Measures during a Clinical Diagnostic Technique for Human Neck Disorder: Inter- and Intraexaminer Comparisons

    Directory of Open Access Journals (Sweden)

    Joseph Vorro

    2013-01-01

    Full Text Available Diagnoses of human musculoskeletal dysfunction of the cervical spine are indicated by palpable clues of a patient’s structural compliance/noncompliance as this body segment responds to diagnostic motion demands applied by a clinician. This process includes assessments of motion range, motion performance, and changes in tissue responses. However, biomechanical quantification of these diagnostic actions and their reproducible components is lacking. As a result, this study sought to use objective kinematic measures to capture aspects of the diagnostic process to compare inter- and intraexaminer motion behaviors when performing a specific clinical diagnostic protocol. Pain-free volunteers and a group determined to be symptomatic based on a psychometric pain score were examined by two clinicians while three-dimensional kinematic data were collected. Intraexaminer diagnostic motion ranges of cervical lateral flexion and secondary rotations were consistent for each examiner and for each subject group. However, interexaminer comparisons for motion range, secondary rotations, and average velocities yielded consistently larger measures for one examiner for both subject groups (P<0.05. This research demonstrates that fundamental aspects of the clinical diagnostic process for human neck disorders can be identified and measured using kinematic parameters. Further, these objective data have the potential to be linked to clinical decision making.

  15. Clinics in diagnostic imaging (58). Chronic cerebral paragonimiasis.

    Science.gov (United States)

    Kaw, G J; Sitoh, Y Y

    2001-02-01

    A 36-year-old Korean man presented with a history of epilepsy. MR imaging of the brain revealed multiple conglomerated round nodules that were hypointense on both T1-and-T2 weighted images. These were located at the left temporal and occipital lobes and had surrounding encephalomalacia. CT scan confirmed the presence of large calcified nodules in the corresponding regions. These imaging findings were typical of chronic cerebral paragonimiasis. The clinical, CT and MR features of cerebral paragonimiasis are reviewed.

  16. Epidemiological, clinical and diagnostic aspects of sheep conidiobolomycosis in Brazil

    Directory of Open Access Journals (Sweden)

    Carla Weiblen

    2016-05-01

    Full Text Available ABSTRACT: Conidiobolomycosis is an emerging disease caused by fungi of the cosmopolitan genus Conidiobolus . Particular strains of Conidiobolus coronatus, Conidiobolus incongruus and Conidiobolus lamprauges , mainly from tropical or sub-tropical origin, cause the mycosis in humans and animals, domestic or wild. Lesions are usually granulomatous and necrotic in character, presenting two clinical forms: rhinofacial and nasopharyngeal. This review includes the main features of the disease in sheep, with an emphasis on the epidemiology, clinical aspects, and diagnosis of infections caused by Conidiobolus spp. in Brazil. In this country, the disease is endemic in the Northeast and Midwest, affecting predominantly woolless sheep breeds and occasioning death in the majority of the studied cases. The species responsible for infections of sheep are C. coronatus and C. lamprauges and the predominant clinical presentation is nasopharyngeal. These fungal infections are very important, since they compromise the health status of the sheep flock and cause serious economic losses to the sheep industry. Thus, research is needed to investigate faster tools for diagnosis and effective methods for the control and treatment of conidiobolomycosis.

  17. Clinical and diagnostic characteristics of hyperprolactinemia in childhood and adolescence.

    Science.gov (United States)

    Catli, Gonul; Abaci, Ayhan; Bober, Ece; Büyükgebiz, Atilla

    2013-01-01

    Pituitary adenoma is the most common cause of hyperprolactinemia, which is a rare endocrine disorder encountered in pediatric patient care. Epidemiological and clinical information about hyperprolactinemia in childhood and adolescence is limited. Clinical signs of hyperprolactinemia are very heterogeneous. In girls, disturbances in menstrual function and galactorrhea may be seen, whereas in boys, headache, visual disturbances, delayed pubertal development and hypogonadism are often present. Owing to the ease of ordering a serum prolactin measurement, an evidence-based, cost-effective approach to the management of this endocrine disorder is required. Before a diagnosis of hyperprolactinemia is made, drug use, renal insufficiency, hypothyroidism, and parasellar tumors should be excluded. The main objectives of treatment are normalization of prolactin level, adenoma shrinkage, and recovery from clinical signs related to hyperprolactinemia. In patients with microadenoma, invasive or non-invasive macroadenoma, and even in patients with visual field defects, dopamine agonists are the first-line treatment. Surgical treatment is indicated in patients who are unresponsive or intolerant to medical treatment or who have persistent neurological signs. Radiotherapy should be considered as a supportive treatment for patients in whom surgery fails or medical response is not achieved.

  18. The road map towards providing a robust Raman spectroscopy-based cancer diagnostic platform and integration into clinic

    Science.gov (United States)

    Lau, Katherine; Isabelle, Martin; Lloyd, Gavin R.; Old, Oliver; Shepherd, Neil; Bell, Ian M.; Dorney, Jennifer; Lewis, Aaran; Gaifulina, Riana; Rodriguez-Justo, Manuel; Kendall, Catherine; Stone, Nicolas; Thomas, Geraint; Reece, David

    2016-03-01

    Despite the demonstrated potential as an accurate cancer diagnostic tool, Raman spectroscopy (RS) is yet to be adopted by the clinic for histopathology reviews. The Stratified Medicine through Advanced Raman Technologies (SMART) consortium has begun to address some of the hurdles in its adoption for cancer diagnosis. These hurdles include awareness and acceptance of the technology, practicality of integration into the histopathology workflow, data reproducibility and availability of transferrable models. We have formed a consortium, in joint efforts, to develop optimised protocols for tissue sample preparation, data collection and analysis. These protocols will be supported by provision of suitable hardware and software tools to allow statistically sound classification models to be built and transferred for use on different systems. In addition, we are building a validated gastrointestinal (GI) cancers model, which can be trialled as part of the histopathology workflow at hospitals, and a classification tool. At the end of the project, we aim to deliver a robust Raman based diagnostic platform to enable clinical researchers to stage cancer, define tumour margin, build cancer diagnostic models and discover novel disease bio markers.

  19. [Modern clinical and radiological approach to diagnostics of odontogenic sinusitis].

    Science.gov (United States)

    Khomutova, E Yu; Ignat'ev, Yu T; Demyanchuk, A N; Demyanchuk, A B

    2015-01-01

    Inflammatory diseases of the maxillary sinuses affect up to 70% of the adult population. Odontogenic maxillary sinusitis represents 13-86% of the inflammatory processes of maxillofacial area, with the incidence range being explained rather by varying diagnosis criteria than the true incidence difference of odontogenic lesions. The aim of the study was to summarize the clinical and radiological characteristics of odontogenic sinusitis according to patients records in the Department of Maxillofacial Surgery of Omsk Clinical Hospital No11 and the oral surgery department of BUZ GKSP No1 in 2009-2014. A total of 948 records of patient (aged 17 to 68 years) with maxillary sinusitis were identified. X-ray examinations were performed by CT PISASSO TRIO ("KoYo", South Korea) and MSCT Brillians 6 and Brillians 64 ((Philips HealthCare), Netherlands). Images were obtained in axial projection with slice thickness of 0.2-0.6 mm with multiplanar reconstructions (MPR) in a variety of direct and oblique projections. Altogether 664 patients were diagnosed with foreign bodies in the maxillary sinuses (filling material in 569 cases, roots or root fragments? implants, rubber drains, fragments of endodontic instruments in 95 cases). In 284 persons odontogenic cysts were found. Almost every fifth case was complicated by mycotic infection. Analysis of the results showed that only a multidisciplinary approach including dentists, maxillofacial surgeons, otolaryngologists and radiologists, as well as dental volumetric tomography or multislice CT can ensure the correct clinical and radiological approaches to determine the tactics of treatment in patients with sinusitis, reduce the incidence of relapses and chronic inflammatory processes in the maxillary sinuses.

  20. Clinics in diagnostic imaging (114). Rupture of the right testis.

    Science.gov (United States)

    Muttarak, M; Thinyu, S; Lojanapiwat, B

    2007-03-01

    A 22-year-old man, who was kicked in the scrotum during Thai kickboxing, presented with a painful swelling of the right hemiscrotum. Scrotal ultrasonography (US) showed an enlarged right testis with heterogeneous echogenicity and irregular contours. Colour Doppler US showed vascularity in the upper pole of the right testis and avascularity in the lower pole. Emergency exploration of the right hemiscrotum revealed laceration of the lower pole of the right testis. Debridement and repair of the right testis were performed. The clinical manifestations, role of US and US findings of scrotal trauma are discussed.

  1. Clinics in diagnostic imaging (112). Perinatal lethal hypophosphatasia (PLH).

    Science.gov (United States)

    Kritsaneepaiboon, S; Jaruratanasirikul, S; Dissaneevate, S

    2006-11-01

    A two-hour-old female infant presented with respiratory distress and short limbs. Neonatal radiographs showed micromelic dwarfism and generalised demineralisation, especially at the ribs, long bones of both forearms and both fibulae. The spine showed a flattened shape. All long bones showed metaphyseal irregularities and flaring. Normal serum calcium and elevated serum phosphorus were found, while serum alkaline phosphatase was markedly reduced. A diagnosis of perinatal lethal hypophosphatasia was made. The aetiology, clinical manifestations, radiographical findings, laboratory assays, prenatal diagnosis and treatment of hypophosphatasia are discussed.

  2. A clinical diagnostic model for predicting influenza among young adult military personnel with febrile respiratory illness in Singapore.

    Directory of Open Access Journals (Sweden)

    Vernon J Lee

    Full Text Available INTRODUCTION: Influenza infections present with wide-ranging clinical features. We aim to compare the differences in presentation between influenza and non-influenza cases among those with febrile respiratory illness (FRI to determine predictors of influenza infection. METHODS: Personnel with FRI (defined as fever ≥ 37.5 °C, with cough or sore throat were recruited from the sentinel surveillance system in the Singapore military. Nasal washes were collected, and tested using the Resplex II and additional PCR assays for etiological determination. Interviewer-administered questionnaires collected information on patient demographics and clinical features. Univariate comparison of the various parameters was conducted, with statistically significant parameters entered into a multivariate logistic regression model. The final multivariate model for influenza versus non-influenza cases was used to build a predictive probability clinical diagnostic model. RESULTS: 821 out of 2858 subjects recruited from 11 May 2009 to 25 Jun 2010 had influenza, of which 434 (52.9% had 2009 influenza A (H1N1, 58 (7.1% seasonal influenza A (H3N2 and 269 (32.8% influenza B. Influenza-positive cases were significantly more likely to present with running nose, chills and rigors, ocular symptoms and higher temperature, and less likely with sore throat, photophobia, injected pharynx, and nausea/vomiting. Our clinical diagnostic model had a sensitivity of 65% (95% CI: 58%, 72%, specificity of 69% (95% CI: 62%, 75%, and overall accuracy of 68% (95% CI: 64%, 71%, performing significantly better than conventional influenza-like illness (ILI criteria. CONCLUSIONS: Use of a clinical diagnostic model may help predict influenza better than the conventional ILI definition among young adults with FRI.

  3. Clinical and diagnostic characteristics of patients with suspected polyneuropathy

    Directory of Open Access Journals (Sweden)

    Mikhailova Е.V.

    2013-09-01

    Full Text Available Objective: to study the causes and clinical manifestations of disease in children referred for hospitalization in children infectious diseases hospital in Saratov with a diagnosis of «acute flaccid paralysis». Material and methods: 157 children with the diagnosis on admission of the guide «acute flaccid paralysis». Conducted clinical examination and laboratory tests included a general analysis of cerebrospinal fluid, urine, virological examination of nasal swabs and faeces, with the definition of a serological ELISA method and RPHA immunoglobulins to influenza, rubella, and enterovirus, immunological study of blood, cerebrospinal fluid PCR, electromyography of the affected limbs. Results. 77 patients (49% with the disease associated with the violation of the musculoskeletal system were registered. In the other cases revealed polyneuropathy was not of poliovirus etiology. Etiological nature of the disease could be explained by 54% of patients. In 37 (46% patients the diagnosis was formulated in accordance with the severity of paralysis. One child was diagnosed with a vaccine-associated poliomyelitis. Conclusion. The diagnosis of «acute flaccid paralysis» used as administered requires a detailed interpretation in a hospital.

  4. CLINICAL AND MORPHOLOGICAL DIAGNOSTIC INTRAHEPATIC BILE DUCTS PAUCITY

    Directory of Open Access Journals (Sweden)

    O. E. Iryshkin

    2013-01-01

    Full Text Available Aim. To study the clinica-morphological features of syndromatic and nonsyndromatic paucity of intrahepatic bile ducts in pediatric liver transplant recipients. Methods and results. The clinical records were analyzed and histological studies of native livers of 20 children, who had suffered from paucity of intrahepatic bile ducts and to whom liver transplantation were made, were completed. The obtained data indicate higher levels of AST in patients with nonsyndromatic paucity of intrahepaticbile ducts (p = 0,023. Ductopenia was the more frequent indication of syndromatic form of paucity of intrahepatic bile ducts (p = 0,01, while ductular proliferations, which form «ductular structure», were discovered more often in nonsyndromatic paucity of intrahepaticbile ducts (p = 0,03. The extent of inflammatory-destructive changes was more expressed in nonsyndromatic pauci- ty of intrahepatic bile ducts (p = 0,01. Fibrosis or cirrhosis was formed more often in nonsyndromatic paucity of intrahepatic bile ducts (p = 0,008. Conclusion. Our results indicate more severe clinical and morphological manifestations in nonsyndromatic paucity of intrahepatic bile ducts. These findings may suggest about heavier liver condition in patient with nonsyndromatic form of paucity of intrahepatic bile ducts. 

  5. [The integrated approach to diagnostics of metabolic syndrome in clinical practice].

    Science.gov (United States)

    Roĭtberg, G E; Ushakova, T I; Sharkhun, O O; Dorosh, Zh V

    2012-01-01

    Basic criteria of diagnostics and definitions of metabolic syndrome recommended by various international associations and expert groups are discussed. Permanent changes of criteria and usage of various approaches to diagnostics influence prevalence of metabolic syndrome among populations and estimation of its association with unfavorable outcomes. Some definitions of metabolic syndrome are more sensitive in detection of risk groups for cardiovascular diseases, and others in - detection of persons with high risk of type 2 diabetes mellitus. New integrated definition of metabolic syndrome which unites pathophysiological and clinical epidemiological approaches for assessment of metabolic disorders and detection of high risk groups of patients applicable for use in everyday clinical practice is presented.

  6. Clinical characteristics and diagnostic imaging of cranial osteoblastoma.

    Science.gov (United States)

    Pelargos, Panayiotis E; Nagasawa, Daniel T; Ung, Nolan; Chung, Lawrance K; Thill, Kimberly; Tenn, Stephen; Gopen, Quinton; Yang, Isaac

    2015-03-01

    Benign osteoblastoma is a rare, vascular, osteoid-forming bone tumor that occurs even less frequently in the cranial bones. Benign osteoblastoma of the cranium affects women slightly more often than men and typically presents in the first three decades of life. Although clinical presentation can vary depending on location, cranial osteoblastoma usually presents as a painful, non-mobile, subcutaneous mass or swelling. On CT scan, it generally presents as a well-demarcated, mixed lytic and sclerotic lesion, with enlarged diploe, thinning outer and/or inner tables, and varying degrees of calcification. It is hypo to isointense on T1-weighted MRI and has variable presentation on T2-weighted MRI. Gross total resection is the definitive treatment, while subtotal resection is utilized when it is necessary to preserve critical adjacent neurovascular structures.

  7. Diagnostic tests for influenza and other respiratory viruses: determining performance specifications based on clinical setting.

    Science.gov (United States)

    Takahashi, Hiroshi; Otsuka, Yoshihito; Patterson, Bruce K

    2010-06-01

    The lack of sensitivity of rapid immunoassays in detecting the novel 2009 H1N1 influenza virus infection has led to recommendations on influenza diagnostic testing for clinicians treating patients as well as advising clinicians on testing decisions. Studies have also shown that rapid immunoassays for seasonal influenza virus show considerable variability in performance characteristics, based on age of patient, prevalence of disease, course of infection, and the quality of the kit used. While public health authorities are currently focused on influenza virus diagnostics, a lack of sensitivity of rapid immunoassays for other viral respiratory pathogens has been widely reported, such as the very limited value of rapid immunoassays for the detection of respiratory syncytial virus in adults. In light of the lack of sensitivity of diagnostic tests for suspected 2009 H1N1 influenza virus infection, as well as their variable performance characteristics for seasonal influenza virus, a number of recommendations have been made by public health authorities advising clinicians on the need for clinical judgment as an important part of testing and treatment decisions as well as reliance on local epidemiologic and surveillance data. With the availability of new molecular methodologies that are user-friendly and allow the front-line physician as well as hospital infection control programs to significantly improve respiratory viral diagnostics, there is a need to carefully determine the most optimal diagnostic testing methodology based on the clinical setting. This review will describe the historical, current, and changing dynamics of respiratory virus infection diagnostics.

  8. Leveraging arthropod-borne disease surveillance assays for clinical diagnostic use.

    Science.gov (United States)

    Melanson, Vanessa R; Scheirer, Jessica L; Van de Wyngaerde, Marshall T; Bourzac, Kevin; Wu, Shuenn-Jue; Kochel, Tadeusz; McAvin, James C

    2014-11-01

    Researchers at the Walter Reed Army Institute of Research have taken a joint service approach to filling an identified diagnostic capability gap by leveraging a vector surveillance assay. Specifically, the Army took a field-stable real-time polymerase chain reaction assay, developed by the Air Force, for dengue virus surveillance in arthropod vectors and collaborated with Navy researchers for utility in human diagnostics. As current Department of Defense diagnostic PCR assays employ the Joint Biological Agent Identification and Diagnostic System, the dengue assay was tested for use on this platform. The low rates of false negative and false positive dengue samples in clinical matrices demonstrate excellent utility as a human diagnostic assay. Overall, converting an arboviral vector surveillance assay to human diagnostic assay and potentially vice versa is both cost effective and labor reducing. Codevelopment with harmonization of vector surveillance and diagnostics offers monetary and resource advantages to the Department of Defense and should be considered as a path forward in times when downsizing threatens assay development and pathogen discovery. Reprint & Copyright © 2014 Association of Military Surgeons of the U.S.

  9. [Diagnostics of the genetic causes of autism spectrum disorders - a clinical geneticist's view].

    Science.gov (United States)

    Szczaluba, Krzysztof

    2014-01-01

    Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different categories, and include congenital defects/anomalies, dysmorphism and macro-/microcephaly, to name the few. Thus, the choice of the diagnostic strategy depends on the clinical and pedigree information and, under Polish circumstances, the availability of specific diagnostic techniques and the amount of reimbursement under the National Health Service. Overall, the identification of the genetic causes of autism spectrum disorders is possible in about 10-30% of patients. In this paper the practical aspects of the use of different diagnostic techniques are briefly described. Some clinical examples and current recommendations for the diagnosis of patients with autism spectrum disorders are also presented. The point of view of a specialist in clinical genetics, increasingly involved, as part of the multidisciplinary care team, in the diagnostics of an autistic child has been demonstrated.

  10. A Diagnostic Approach to Autoimmune Disorders: Clinical Manifestations: Part 1.

    Science.gov (United States)

    Sahai, Shashi; Adams, Matthew; Kamat, Deepak

    2016-06-01

    Autoimmune disorders are not commonly encountered in a general pediatric practice, but they may mimic many other disorders. Although they occur infrequently, it is always important to pause and consider an autoimmune disorder in the differential diagnosis. A detailed history and careful physical examination play an important role in guiding laboratory evaluation for these disorders. Many autoimmune disorders present with symptoms that involve multiple organ systems. The common symptoms that may make one consider a rheumatic disorder in the differential diagnosis are fever, fatigue, joint pain, rash, ulcers, and muscle weakness. The most common reason for referral to a pediatric rheumatologist is joint pain. A good joint examination may be performed by the use of the pediatric Gait, Arms, Legs, Spine screen, which is a validated screening tool. A small portion of children with fever of unknown origin may have an autoimmune disorder, with a majority of them having an infectious disease. Some patients with undiagnosed rheumatic disorders may present to the emergency. department. The characteristics of historic and clinical examination features of various autoimmune disorders are discussed in this article. [Pediatr Ann. 2016;45(6):e223-e229.].

  11. [Vasculitic Peripheral Neuropathies: Clinical Features and Diagnostic Laboratory Tests].

    Science.gov (United States)

    Ogata, Katsuhisa

    2016-03-01

    Vasculitic peripheral neuropathy (VPN) occurs due to ischemic changes of peripheral nerves, resulting from a deficit of vascular blood supply due to damaged vasa nervorum leading to vasculitis. VPN usually manifests as sensorimotor or sensory disturbances accompanied by pain, presenting as a type of multiple mononeuropathy, with a scattered distribution in distal limbs. VPN may also present as a mononeuropathy, distal symmetric polyneuropathy, plexopathy, or radiculopathy. The rapidity of VPN is variable, ranging from days to months, with symptoms occasionally changing with the appearance of new lesions. Careful history taking and neurological examination provides an exact diagnosis. The most common cause of VPN is primary vasculitis predominantly affecting small vessels, including vasa nervorum, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, and polyarteritis nodosa. Similar vasculitic processes can also result from a systemic collagen disorder or secondary vasculitis. Electrophysiological studies and pathological investigation of biopsied peripheral nerves and muscles are important for diagnosis of vasculitis. Serological tests, including ANCA, are useful for diagnosis of vasculitis. Accurate neurological examinations are essential for diagnosis and evaluation of clinical course.

  12. HYPOPARATHYROIDISM: ETIOLOGY, CLINICAL MANIFESTATION, CURRENT DIAGNOSTICS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    N. G. Mokrysheva

    2016-01-01

    treatment with recombinant PTH is not widely used. Replacement therapy with recombinant human PTH is a  promising area, especially in severe clinical cases, refractory to conventional treatment.

  13. Reliability and diagnostic efficiency of the abbreviated-diagnostic interview for borderlines in an adolescent clinical population.

    Science.gov (United States)

    Guilé, Jean Marc; Greenfield, Brian; Berthiaume, Claude; Chapdelaine, Cimon; Bergeron, Lise

    2009-09-01

    Examine the reliability as well as the concurrent validity and diagnostic efficiency of the Abbreviated version of the diagnostic interview for borderlines revised (Ab-DIB) as a screening measure of borderline psychopathology in an adolescent clinical population. The Ab-DIB is a DIB-R-derived self-report covering the impulsiveness as well as the affect and cognitive components of the borderline construct. Its administration lasts 10 min. The Ab-DIB was tested on 139 suicidal youths for reliability and concurrent validity against the DIB-R and the Columbia Impairment Scale (CIS). Internal consistencies and test-retest Intra-Class-Correlations ranged from 0.80 to 0.86 and 0.77 to 0.95, respectively. ROC analysis yielded an area under the curve of 0.87 (p < 0.001). Sensitivity was 0.88 and specificity ranged from 0.82 to 0.73 depending on the age-range. Correlation of the Ab-DIB's continuous score with the CIS was 0.42 (p < 0.001). In conclusion, The Ab-DIB's brief duration and psychometric properties suggest its utility in time-limited settings.

  14. Comparative Capabilities of Clinical Assessment, Diagnostic Criteria, and Polysomnography in Detecting Sleep Bruxism

    Science.gov (United States)

    Palinkas, Marcelo; De Luca Canto, Graziela; Rodrigues, Laíse Angélica Mendes; Bataglion, César; Siéssere, Selma; Semprini, Marisa; Regalo, Simone Cecilio Hallak

    2015-01-01

    Objective: To evaluate the diagnostic capability of signs and symptoms of sleep bruxism (SB) as per the American Academy of Sleep Medicine (AASM) criteria and a diagnostic grading system proposed by international experts for assessing SB. Methods: The study was conducted in three phases (interview, physical examination, and sleep studies). Subjects were asked about self-reported tooth grinding sounds occurring during sleep, muscle fatigue, temporal headaches, jaw muscle pain, and jaw locking. A visual examination was conducted to check for presence of abnormal tooth wear. A full-night polysomnography (PSG) was performed. After three phases, the subjects were divided into two groups matched by age and gender: Case Group, 45 SB subjects, and Control Group, 45 non-SB subjects. Diagnostic accuracy measurements were calculated for each sign or symptom individually and for the two diagnostic criteria analyzed. Results: Muscle fatigue, temporal headaches, and AASM criteria were associated with highest sensitivity (78%, 67%, 58%, respectively) and also with highest diagnostic odds ratio (OR = 9.63, 9.25, 6.33, respectively). Jaw locking, muscle pain, and the criterion of “probable SB” were associated with the worst sensitivity (16%, 18%, 22%, respectively). Conclusions: Presence of muscle fatigue and temporal headaches can be considered good tools to screen SB patients. None of the diagnostic criteria evaluated was able to accurately identify patients with SB. AASM criteria had the strongest diagnostic capabilities and—although they do not attain diagnostic values high enough to replace the current gold standard (PSG)—should be used as a screening tool to identify SB. Citation: Palinkas M, De Luca Canto G, Rodrigues LA, Bataglion C, Siéssere S, Semprini M, Regalo SC. Comparative capabilities of clinical assessment, diagnostic criteria, and polysomnography in detecting sleep bruxism. J Clin Sleep Med 2015;11(11):1319–1325. PMID:26235152

  15. Biopsies of colorectal clinical polyps--emergence of diagnostic information on deeper levels

    DEFF Research Database (Denmark)

    Warnecke, Mads; Engel, Ulla; Bernstein, Inge;

    2009-01-01

    Although the occasional appearance of a normal histology of biopsies from endoscopic colorectal (CR) polyps is generally held knowledge, its prevalence has rarely been focused on, and the yield of additional sections in such cases has been previously addressed in merely four communications....... Hitherto, this issue has not been discussed in the context of the clinical setting. The prime aim of this study was to evaluate the yield of step sectioning CR biopsies, considered non-diagnostic (non-diagnostic biopsies (NDB)) on routine sections. The results are correlated with the indications...... for endoscopy. Additionally, an appropriate, cost-effective approach for handling NDB was sought. Biopsies from 480 clinical polyps were prospectively evaluated by one of three gastrointestinal pathologists and classified as (a) diagnostic biopsies (DB), comprising neoplastic polyps, hyperplastic polyps (HP...

  16. Diagnostic stability among chronic patients with functional psychoses: an epidemiological and clinical study

    Directory of Open Access Journals (Sweden)

    Jakobsen Klaus D

    2007-08-01

    Full Text Available Abstract Background Diagnostic stability and illness course of chronic non-organic psychoses are complex phenomena and only few risk factors or predictors are known that can be used reliably. This study investigates the diagnostic stability during the entire course of illness in patients with non-organic psychoses and attempts to identify non-psychopathological risk factors or predictors. Method 100 patients with functional psychosis were initially characterised using the Operational Criteria Checklist for Psychotic Illness and Affective Illness (OPCRIT, medical records and health registers. To study the stability of diagnoses (i.e. shifts per time, we used registry data to define four measures of diagnostic variation that were subsequently examined in relation to four possible measures of time (i.e. observation periods or hospitalisation events. Afterwards, we identified putative co-variables and predictors of the best measures of diagnostic stability. Results All four measures of diagnostic variation are very strongly associated with numbers-of-hospitalisations and less so with duration-of-illness, duration-of-hospitalisation and with year-of-first-admission. The four measures of diagnostic variation corrected for numbers-of-hospitalisations were therefore used to study the diagnostic stability. Conventional predictors of illness course – e.g. age-of-onset and premorbid-functioning – are not significantly associated with stability. Only somatic-comorbidity is significantly associated with two measures of stability, while family-history-of-psychiatric-illness and global-assessment-of-functioning (GAF scale score show a trend. However, the traditional variables age-of-first-admission, civil-status, first-diagnosis-being-schizophrenia and somatic-comorbidity are able to explain two-fifth of the variation in numbers-of-hospitalisations. Conclusion Diagnostic stability is closely linked with the contact between patient and the healthcare system

  17. Diagnostic performance of amyloid A protein quantification in fat tissue of patients with clinical AA amyloidosis

    NARCIS (Netherlands)

    Hazenberg, Bouke P. C.; Bijzet, Johannes; Limburg, Pieter C.; Skinner, Martha; Hawkins, Philip N.; Butrimiene, Irena; Livneh, Avi; Lesnyak, Olga; Nasonov, Evgeney L.; Filipowicz-Sosnowska, Anna; Guel, Ahmet; Merlini, Giampaolo; Wiland, Piotr; Oezdogan, Huri; Gorevic, Peter D.; Ben Maiz, Hedi; Benson, Merrill D.; Direskeneli, Haner; Kaarela, Kalevi; Garceau, Denis; Hauck, Wendy; van Rijswijk, Martin

    2007-01-01

    Objective. Amyloid A protein quantification in fat tissue is a new immunochemical method for detecting AA amyloidosis, a rare but serious disease. The objective was to assess diagnostic performance in clinical AA amyloidosis. Methods. Abdominal subcutaneous fat tissue of patients with AA amyloidosis

  18. Sharing the Diagnostic Process in the Clinical Teaching Environment: A Case Study

    Science.gov (United States)

    Cuello-Garcia; Carlos

    2005-01-01

    Revealing or visualizing the thinking involved in making clinical decisions is a challenge. A case study is presented with a visual implement for sharing the diagnostic process. This technique adapts the Bayesian approach to the case presentation. Pretest probabilities and likelihood ratios are gathered to obtain post-test probabilities of every…

  19. Prediction of 6-yr symptom course trajectories of anxiety disorders by diagnostic, clinical and psychological variables

    NARCIS (Netherlands)

    Spinhoven, Philip; Batelaan, Neeltje; Rhebergen, Didi; van Balkom, Anton; Schoevers, Robert; Penninx, Brenda W.

    2016-01-01

    This study aimed to identify course trajectories of anxiety disorder using a data-driven method and to determine the incremental predictive value of clinical and psychological variables over and above diagnostic categories. 703 patients with DSM-IV panic disorder with or without agoraphobia, agoraph

  20. Impact of molecular imaging on the diagnostic process in a memory clinic

    NARCIS (Netherlands)

    Ossenkoppele, R.; Prins, N.D.; Pijnenburg, Y.A.; Lemstra, A.W.; Flier, W.M. van der; Adriaanse, S.F.; Windhorst, A.D.; Handels, R.L.; Wolfs, C.A.; Aalten, P.; Verhey, F.R.J.; Verbeek, M.M.; Buchem, M.A. van; Hoekstra, O.S.; Lammertsma, A.A.; Scheltens, P.; Berckel, B.N. van

    2013-01-01

    BACKGROUND: [(11)C]Pittsburgh compound B ([(11)C]PIB) and [(18)F]-2-fluoro-2-deoxy-D-glucose ([(18)F]FDG) PET measure fibrillar amyloid-beta load and glucose metabolism, respectively. We evaluated the impact of these tracers on the diagnostic process in a memory clinic population. METHODS: One hundr

  1. Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

    NARCIS (Netherlands)

    Sikkema-Raddatz, B.; Johansson, L.F.; de Boer, E.N.; Almomani, R.; Boven, L.G.; van den Berg, M.P.; van Spaendonck-Zwarts, K.Y.; van Tintelen, J.P.; Sijmons, R.H.; Jongbloed, J.D.H.; Sinke, R.J.

    2013-01-01

    Mutation detection through exome sequencing allows simultaneous analysis of all coding sequences of genes. However, it cannot yet replace Sanger sequencing (SS) in diagnostics because of incomplete representation and coverage of exons leading to missing clinically relevant mutations. Targeted next-g

  2. Towards a rapid molecular diagnostic for melioidosis: comparison of DNA extraction methods from clinical specimens

    Science.gov (United States)

    Richardson, Leisha J; Kaestli, Mirjam; Mayo, Mark; Bowers, Jolene R; Tuanyok, Apichai; Schupp, Jim; Engelthaler, David; Wagner, David M; Keim, Paul S; Currie, Bart J

    2011-01-01

    Optimising DNA extraction from clinical samples for Burkholderia pseudomallei Type III secretion system real-time PCR in suspected melioidosis patients confirmed that urine and sputum are useful diagnostic samples. Direct testing on blood remains problematic; testing DNA extracted from plasma was superior to DNA from whole blood or buffy coat. PMID:22108495

  3. Diagnostic performance of amyloid A protein quantification in fat tissue of patients with clinical AA amyloidosis

    NARCIS (Netherlands)

    Hazenberg, Bouke P. C.; Bijzet, Johannes; Limburg, Pieter C.; Skinner, Martha; Hawkins, Philip N.; Butrimiene, Irena; Livneh, Avi; Lesnyak, Olga; Nasonov, Evgeney L.; Filipowicz-Sosnowska, Anna; Guel, Ahmet; Merlini, Giampaolo; Wiland, Piotr; Oezdogan, Huri; Gorevic, Peter D.; Ben Maiz, Hedi; Benson, Merrill D.; Direskeneli, Haner; Kaarela, Kalevi; Garceau, Denis; Hauck, Wendy; van Rijswijk, Martin

    2007-01-01

    Objective. Amyloid A protein quantification in fat tissue is a new immunochemical method for detecting AA amyloidosis, a rare but serious disease. The objective was to assess diagnostic performance in clinical AA amyloidosis. Methods. Abdominal subcutaneous fat tissue of patients with AA amyloidosis

  4. Clinical reasoning in the real world is mediated by bounded rationality: implications for diagnostic clinical practice guidelines.

    Directory of Open Access Journals (Sweden)

    Ana Paula Ribeiro Bonilauri Ferreira

    Full Text Available BACKGROUND: Little is known about the reasoning mechanisms used by physicians in decision-making and how this compares to diagnostic clinical practice guidelines. We explored the clinical reasoning process in a real life environment. METHOD: This is a qualitative study evaluating transcriptions of sixteen physicians' reasoning during appointments with patients, clinical discussions between specialists, and personal interviews with physicians affiliated to a hospital in Brazil. RESULTS: FOUR MAIN THEMES WERE IDENTIFIED: simple and robust heuristics, extensive use of social environment rationality, attempts to prove diagnostic and therapeutic hypothesis while refuting potential contradictions using positive test strategy, and reaching the saturation point. Physicians constantly attempted to prove their initial hypothesis while trying to refute any contradictions. While social environment rationality was the main factor in the determination of all steps of the clinical reasoning process, factors such as referral letters and number of contradictions associated with the initial hypothesis had influence on physicians' confidence and determination of the threshold to reach a final decision. DISCUSSION: Physicians rely on simple heuristics associated with environmental factors. This model allows for robustness, simplicity, and cognitive energy saving. Since this model does not fit into current diagnostic clinical practice guidelines, we make some propositions to help its integration.

  5. Implementing the K-SADS-PL as a standard diagnostic tool: Effects on clinical diagnoses.

    Science.gov (United States)

    Matuschek, Tina; Jaeger, Sonia; Stadelmann, Stephanie; Dölling, Katrin; Grunewald, Madlen; Weis, Steffi; von Klitzing, Kai; Döhnert, Mirko

    2016-02-28

    Diagnostic interviews are valuable tools for generating reliable and valid psychiatric diagnoses. However, little is known about the diagnostic effects of implementing such an interview into the standard diagnostic procedure of a child psychiatric clinic. Therefore, we reviewed discharge diagnoses of psychiatric patients (age: 8-12 years; combined sample of inpatients and day hospital patients) over two intervals before and after implementing the semi-structured diagnostic interview K-SADS-PL as a diagnostic tool during intake. Each interval was a two year period spanning from 2009-2010 (pre sample; n=177) and from 2012-2013 (post sample; n=132). The number of diagnoses per patient and the co-morbidity rate increased significantly in the post sample. Furthermore, the percentage of children with a nonspecific diagnosis "other mixed disorders of conduct and emotions" (ICD-10: F92.8) decreased significantly after using the K-SADS-PL. Regarding the main diagnostic categories, a significant increase in the number of anxiety disorders and stress-related and somatoform disorders was found in the post sample. The results suggest that implementing a semi-structured interview into the daily routine of child psychiatry may have a substantial impact on discharge diagnoses. Practical implications are discussed and ideas for future research are given.

  6. Comparison of novel clinically applicable methodology for sensitive diagnostics of cartilage degeneration

    Directory of Open Access Journals (Sweden)

    P Kiviranta

    2007-04-01

    Full Text Available In order efficiently to target therapies intending to stop or reverse degenerative processes of articular cartilage, it would be crucial to diagnose osteoarthritis (OA earlier and more sensitively than is possible with the existing clinical methods. Unfortunately, current clinical methods for OA diagnostics are insensitive for detecting the early degenerative changes, e.g., arising from collagen network damage or proteoglycan depletion. We have recently investigated several novel quantitative biophysical methods, including ultrasound indentation, quantitative ultrasound techniques and magnetic resonance imaging, for diagnosing the degenerative changes of articular cartilage, typical for OA. In this study, the combined results of these novel diagnostic methods were compared with histological (Mankin score, MS, compositional (proteoglycan, collagen and water content and mechanical (dynamic and equilibrium moduli reference measurements of the same bovine cartilage samples. Receiver operating characteristics (ROC analysis was conducted to judge the diagnostic performance of each technique. Indentation and ultrasound techniques provided the most sensitive measures to differentiate samples of intact appearance (MS=0 from early (13 degeneration. Furthermore, these techniques were good predictors of tissue composition and mechanical properties. The specificity and sensitivity analyses revealed that the mechano-acoustic methods, when further developed for in vivo use, may provide more sensitive probes for OA diagnostics than the prevailing qualitative X-ray and arthroscopic techniques. Noninvasive quantitative MRI measurements showed slightly lower diagnostic performance than mechano-acoustic techniques. The compared methods could possibly also be used for the quantitative monitoring of success of cartilage repair.

  7. Diagnostic Approaches to Sjögren’s Syndrome: a Literature Review and Own Clinical Experience

    Directory of Open Access Journals (Sweden)

    Pedro de Sousa Gomes

    2012-03-01

    Full Text Available Objectives: The purpose of present paper is to critically address the recent advances on diagnostic procedures of Sjögren’s syndrome, taking into account the attained local and systemic features of the disease. Material and Methods: A comprehensive review of the available literature regarding to the diagnostic approaches to Sjögren’s syndrome was conducted. Eligible studies were identified by searching the electronic literature PubMed, Medline, Embase, and ScienceDirect databases for relevant reports (last search update January 2012 combining the MESH heading term “Sjögren’s syndrome”, with the words "diagnosis, diagnostic procedures, salivary gland function, ocular tests, histopathology, salivary gland imaging, serology". The authors checked the references of the selected articles to identify additional eligible publications and contacted the authors, if necessary. Results: Presented article addresses the established diagnostic criteria for Sjögren’s syndrome and critically evaluates the most commonly used diagnostic procedures, presenting data from author’s own clinical experience. Diagnostic criteria for Sjögren’s syndrome are required both by healthcare professionals and patients, namely in order to provide a rational basis for the assessment of the symptoms, establish an individual disease prognosis, and orientate the therapeutic intervention. Conclusions: Sjögren’s syndrome is quite a common autoimmune disease of which the diagnosis and treatment are not easily established. Due to its systemic involvement, it can exhibit a wide range of clinical manifestations that contribute to confusion and delay in diagnosis. The use of proper diagnostic modalities will help to reduce the time to diagnosis and preserve the health and quality of life of patients with Sjögren’s syndrome.

  8. Limited diagnostic accuracy of magnetic resonance imaging and clinical tests for detecting partial-thickness tears of the rotator cuff.

    Science.gov (United States)

    Brockmeyer, Matthias; Schmitt, Cornelia; Haupert, Alexander; Kohn, Dieter; Lorbach, Olaf

    2017-09-23

    The reliable diagnosis of partial-thickness tears of the rotator cuff is still elusive in clinical practise. Therefore, the purpose of the study was to determine the diagnostic accuracy of MR imaging and clinical tests for detecting partial-thickness tears of the rotator cuff as well as the combination of these parameters. 334 consecutive shoulder arthroscopies for rotator cuff pathologies performed during the time period between 2010 and 2012 were analyzed retrospectively for the findings of common clinical signs for rotator cuff lesions and preoperative MR imaging. These were compared with the intraoperative arthroscopic findings as "gold standard". The reports of the MR imaging were evaluated with regard to the integrity of the rotator cuff. The Ellman Classification was used to define partial-thickness tears of the rotator cuff in accordance with the arthroscopic findings. Descriptive statistics, sensitivity, specificity, positive and negative predictive value were calculated. MR imaging showed 80 partial-thickness and 70 full-thickness tears of the rotator cuff. The arthroscopic examination confirmed 64 partial-thickness tears of which 52 needed debridement or refixation of the rotator cuff. Sensitivity for MR imaging to identify partial-thickness tears was 51.6%, specificity 77.2%, positive predictive value 41.3% and negative predictive value 83.7%. For the Jobe-test, sensitivity was 64.1%, specificity 43.2%, positive predictive value 25.9% and negative predictive value 79.5%. Sensitivity for the Impingement-sign was 76.7%, specificity 46.6%, positive predictive value 30.8% and negative predictive value 86.5%. For the combination of MR imaging, Jobe-test and Impingement-sign sensitivity was 46.9%, specificity 85.4%, positive predictive value 50% and negative predictive value 83.8%. The diagnostic accuracy of MR imaging and clinical tests (Jobe-test and Impingement-sign) alone is limited for detecting partial-thickness tears of the rotator cuff. Additionally

  9. Feasibility of streamlining an interactive Bayesian-based diagnostic support tool designed for clinical practice

    Science.gov (United States)

    Chen, Po-Hao; Botzolakis, Emmanuel; Mohan, Suyash; Bryan, R. N.; Cook, Tessa

    2016-03-01

    In radiology, diagnostic errors occur either through the failure of detection or incorrect interpretation. Errors are estimated to occur in 30-35% of all exams and contribute to 40-54% of medical malpractice litigations. In this work, we focus on reducing incorrect interpretation of known imaging features. Existing literature categorizes cognitive bias leading a radiologist to an incorrect diagnosis despite having correctly recognized the abnormal imaging features: anchoring bias, framing effect, availability bias, and premature closure. Computational methods make a unique contribution, as they do not exhibit the same cognitive biases as a human. Bayesian networks formalize the diagnostic process. They modify pre-test diagnostic probabilities using clinical and imaging features, arriving at a post-test probability for each possible diagnosis. To translate Bayesian networks to clinical practice, we implemented an entirely web-based open-source software tool. In this tool, the radiologist first selects a network of choice (e.g. basal ganglia). Then, large, clearly labeled buttons displaying salient imaging features are displayed on the screen serving both as a checklist and for input. As the radiologist inputs the value of an extracted imaging feature, the conditional probabilities of each possible diagnosis are updated. The software presents its level of diagnostic discrimination using a Pareto distribution chart, updated with each additional imaging feature. Active collaboration with the clinical radiologist is a feasible approach to software design and leads to design decisions closely coupling the complex mathematics of conditional probability in Bayesian networks with practice.

  10. [Abdominal masses in pediatric age; clinical aspects and diagnostic approach in 52 cases (author's transl)].

    Science.gov (United States)

    Perrelli, L; Calisti, A; Molle, P

    1981-01-01

    A large series of malignant and benign conditions are generally collected under the term of abdominal masses. Their common aspect is the lack, in most of the cases, of peculiar clinical features which may help early differential diagnosis. In many cases the mass is detected late after a long period of vague, aspecific symptoms. 40% of these space occupying lesions of the abdomen are of malignant origin and delayed detection and investigation affect clinical course. Preoperative study of abdominal masses is a problem of primary importance in pediatric surgical practice. A changing attitude is registered towards many diagnostic procedures and the role of largely diffused techniques like angiography is controversial. The introduction of ultrasonography makes in many cases intensive radiologic investigation unwarranted and academic. The Authors discuss the real role and targets of preoperative investigations of abdominal masses and refer on their experience based on 52 cases, to underline some clinical aspects and analyse their diagnostic approach to this pathology.

  11. Clinical and diagnostic challenges in a rare case of motor weakness with endocrinopathy: A case report

    Directory of Open Access Journals (Sweden)

    Ravinder Garg

    2016-01-01

    Full Text Available Electrolyte imbalance always poses challenging situations to the attending intensivists, particularly if it is associated with endocrinopathies and other comorbidities. One such rare clinical scenario is hypokalemic periodic paralysis (HPP due to hyperthyroidism. The epidemiology of such a condition is slightly higher among males of Asian origin as compared to its universal occurrence. The diagnostic challenges in this clinical situation can lead to higher morbidity if timeliness is compromised from the presentation to active management. Moreover, atypical presentation of this pathologic condition further compounds the problem if it is associated with overt hyperthyroidism. Here, we report a unique case that presented to the emergency medicine department of our institute with weakness of all the four limbs and in which we faced all the diagnostic and management challenges as the clinical condition of hypokalemia was somehow dominated by overt hyperthyroidism.

  12. Defining moderate asthma exacerbations in clinical trials based on ATS/ERS joint statement

    DEFF Research Database (Denmark)

    Virchow, J Christian; Backer, Vibeke; de Blay, Frédéric;

    2015-01-01

    BACKGROUND: Exacerbations are a key outcome in clinical research, providing patient-relevant information about symptomatic control, health state and disease progression. Generally considered as an episode of (sub)acute deterioration of respiratory symptoms, a precise, clinically useful definition...

  13. Guideline-Defining Asthma Clinical Trials of the NHLBI ACRN and CARE Networks

    OpenAIRE

    Loren C Denlinger; Sorkness, Christine A.; Chinchilli, Vernon M.; Lemanske, Robert F.

    2006-01-01

    Due to an increasing prevalence, morbidity and mortality associated with asthma, the National Heart, Lung and Blood Institute created the Asthma Clinical Research Network (ACRN) and the Childhood Asthma Research and Education (CARE) Network to improve public health. The objectives of these clinical research networks are to conduct multiple, well designed clinical trials for rapid evaluation of new and existing therapeutic approaches to asthma and to disseminate laboratory and clinical finding...

  14. Clinical deterioration during antitubercular treatment at a district hospital in South Africa: the importance of drug resistance and AIDS defining illnesses.

    Directory of Open Access Journals (Sweden)

    Dominique J Pepper

    Full Text Available BACKGROUND: Clinical deterioration on drug therapy for tuberculosis is a common cause of hospital admission in Africa. Potential causes for clinical deterioration in settings of high HIV-1 prevalence include drug resistant Mycobacterium tuberculosis (M.tb, co-morbid illnesses, poor adherence to therapy, tuberculosis associated-immune reconstitution inflammatory syndrome (TB-IRIS and subtherapeutic antitubercular drug levels. It is important to derive a rapid diagnostic work-up to determine the cause of clinical deterioration as well as specific management to prevent further clinical deterioration and death. We undertook this study among tuberculosis (TB patients referred to an adult district level hospital situated in a high HIV-1 prevalence setting to determine the frequency, reasons and outcome for such clinical deterioration. METHOD: A prospective observational study conducted during the first quarter of 2007. We defined clinical deterioration as clinical worsening or failure to stabilise after 14 or more days of antitubercular treatment, resulting in hospital referral. We collected data on tuberculosis diagnosis and treatment, HIV-1 status and antiretroviral treatment, and investigated reasons for clinical deterioration as well as outcome. RESULTS: During this period, 352 TB patients met inclusion criteria; 296 were admitted to hospital accounting for 17% of total medical admissions (n = 1755. Eighty three percent of TB patients (291/352 were known to be HIV-1 co-infected with a median CD4 count of 89cells/mm(3 (IQR 38-157. Mortality among TB patients admitted to hospital was 16% (n = 48. The median duration of hospital admission was 9.5 days (IQR 4-18, longer than routine in this setting (4 days. Among patients in whom HIV-1 status was known (n = 324, 72% of TB patients (n = 232 had an additional illness to tuberculosis; new AIDS defining illnesses (n = 80 were the most frequent additional illnesses (n = 208 in HIV-1 co-infected patients (n

  15. The Hampstead Clinic at work. Discussions in the Diagnostic Profile Research Group.

    Science.gov (United States)

    Koch, Ehud

    2012-01-01

    Minutes of the Hampstead Clinic's Diagnostic Profile Research Group during a fifteen-month period (1964-1965) are reviewed and discussed. A wide range of topics were considered and discussed, with a special focus on the affective life, object relations, and ego function of atypical children in comparison to the early ego functions and differentiation of normal and neurotic children. These lively clinical and theoretical discussions and their implications for therapeutic work with a wide range of children, demonstrate the multifaceted leadership and contributions of Anna Freud as teacher, clinician, and thinker, and of the Hampstead Clinic as a major center for psychoanalytic studies.

  16. Synthetic–schematic representation of the model of clinical diagnostic-therapeutic method

    Directory of Open Access Journals (Sweden)

    Luis Alberto Corona Martínez

    2007-04-01

    Full Text Available The use of a systemic approach in the theoretical analysis of the clinical method has allowed the elaboration of an schematic and synthetic representation of the new model of clinical diagnostic- therapeutic method developed from the conception of the medical assistance as a taking decisions process. The identification of the main components of the clinical method system, as well as of the interrelations established among these, facilitate the understanding of the medical attention process, and also allows the establishment of some of the regularities whose knowledge by the student is of great importance for the learning and application of the method by our Medicine students.

  17. DIAGNOSTIC ACCURACY OF CLINICAL AND MAGNETIC RESONANCE IN KNEE MENISCI AND LIGAMENTOUS INJURIES

    Directory of Open Access Journals (Sweden)

    Nilesh

    2016-03-01

    Full Text Available OBJECTIVE The purpose of this study was to evaluate the reliability of clinical diagnosis compared to MRI findings in ligamentous and meniscal injuries with respect to arthroscopic confirmation as a gold standard. METHODS 485 patients with knee injuries were prospectively assessed by clinical evaluation and magnetic resonance imaging and correlated after therapeutic arthroscopy. The overall accuracy, clinically productive values of sensitivity and specificity was derived. The actual value of the test with respect to positive predictive and negative predictive value was also derived, taking arthroscopic findings as confirmatory. The overall partial and total agreement among the clinical, MRI and arthroscopy was documented. RESULTS The overall accuracy for clinical examination was 85, 92, 100 and 100 and accuracy for MRI was 90, 97, 97 and 97 for detecting medial meniscus, lateral meniscus, ACL and PCL tears respectively. Clinically lateral meniscus tears are difficult to diagnose clinically with negative predictive value (90 whereas ACL injuries do not need MRI for diagnosis as evident by a high negative predictive value (100 of clinical examination. Total agreement with the clinical findings confirmed by arthroscopy was 64.40% which was relatively high as compared to total agreement of MRI findings which was only 31.50%. We found similar total agreement versus total disagreement of both clinical and MRI to be only 2.74% indicating very high accuracy in clinical diagnosis of meniscal and ligamentous injuries combined. CONCLUSION The clinical evaluation alone is sufficient to diagnose meniscal and ACL/PCL pathologies and MRI should be considered only as a powerful negative diagnostic tool. The arthroscopy decision should not be heavily dependent on MRI for ligamentous injuries but reverse is true for meniscal lesions. MR evaluation functions as a powerful negative diagnostic tool to rule out doubtful and complex knee injuries.

  18. Prevalence of neuropathic features of back pain in clinical populations: implications for the diagnostic triage paradigm.

    Science.gov (United States)

    Hush, Julia M; Marcuzzi, Anna

    2012-07-01

    SUMMARY Contemporary clinical assessment of back pain is based on the diagnostic triage paradigm. The most common diagnostic classification is nonspecific back pain, considered to be of nociceptive etiology. A small proportion are diagnosed with radicular pain, of neuropathic origin. In this study we review the body of literature on the prevalence of neuropathic features of back pain, revealing that the point prevalence is 17% in primary care, 34% in mixed clinical settings and 53% in tertiary care. There is evidence that neuropathic features of back pain are not restricted to typical clinical radicular pain phenotypes and may be under-recognized, particularly in primary care. The consequence of this is that in the clinic, diagnostic triage may erroneously classify patients with nonspecific back pain or radicular pain. A promising alternative is the development of mechanism-based pain phenotyping in patients with back pain. Timely identification of contributory pain mechanisms may enable greater opportunity to select appropriate therapeutic targets and improve patient outcomes.

  19. Diagnostic outcome following routine genetics clinic referral for the assessment of global developmental delay.

    LENUS (Irish Health Repository)

    Shahdadpuri, R

    2012-02-01

    The aim of this study was to ascertain the diagnostic yield following a routine genetics clinic referral for the assessment of global developmental delay. Detailed retrospective review of 119 complete consecutive case notes of patients referred to one single clinical geneticist over a 14 month time period was undertaken (n = 119; 54 males, 65 females). The age at initial review ranged from 2 months to 37 years 3 months (mean 8 y 3 mo [SD 7 y 10 mo]). We made a diagnosis in 36\\/119 (30%); 21\\/36 were new diagnoses and 15\\/36 were confirmations of diagnoses. We removed a wrong diagnostic label in 8\\/119 (7%). In 3\\/8 we were able to achieve a diagnosis but in 5\\/8 no alternative diagnosis was reached. We had a better diagnostic rate where the patients were dysmorphic (odds ratio [OR] 1.825; 95% confidence interval [CI] 1.065 to 3.128, p = 0.044). In the majority, the diagnosis was made by clinical examination only. Molecular diagnosis was reached in seven cases. Five cases were confirmed by cytogenetic analysis. Brain magnetic resonance imaging (MRI) revealed a diagnosis in three cases. This study confirms the importance of a clinical genetics assessment in the investigation of global developmental delay.

  20. [Neurofibromatosis von Recklinghausen type 1 (NF1) - clinical picture and molecular-genetics diagnostic].

    Science.gov (United States)

    Petrák, Bořivoj; Bendová, Šárka; Lisý, Jiří; Kraus, Josef; Zatrapa, Tomáš; Glombová, Marie; Zámečník, Josef

    2015-01-01

    Neurofibromatosis von Recklinghausen type 1 (NF1) is a multisystem, autosomal dominant hereditary neurocutaneous disease characterized by skin, central and peripheral nervous system , eyes , bone, endocrine, gastrointestinal and blood vessel wall involvement. It has an estimated frequency of 1 in 3000. Neurofibromatosis type 1 is caused by mutations in the large NF1 gene located on chromosome 17q11.2, encoding the cytoplasmic protein neurofibromin. It is expressed in multiple cell types but is highly expressed in Schwann cells, oligodendrocytes, neurons, astrocytes and leukocytes. Neurofibromin is known to act as a tumor suppressor via Ras-GTPase activation, which causes down-regulation of cellular signaling via the Ras/mitogen-activated protein kinase (MAPK) pathway. Failure of this function is associated with a tendency to form tumors which are histologically hamartomas as well as benign tumors. Tumors of the central nervous system include low-grade gliomas (pilocytic astrocytomas grade I), especially optic pathway gliomas. They are often clinically asymptomatic. Other intracranial tumors are in the brain stem and also elsewhere in the brain and spinal cord. Hydrocephalus may be a complication of NF1 gliomas or due to stenosis of the distal part of the aqueduct Silvii. Cutaneous and subcutaneous neurofibromas or plexiform neurofibromas are localized in the peripheral nervous system. Plexiform neurofibromas have a significant lifetime risk of malignancy. The clinical diagnosis of NF1 is defined by diagnostic criteria. The NF1 diagnosis is satisfied when at least two of the seven conditions are met. The method of direct DNA analysis of large NF1 gene (61 exons) is available. The results of studies of genotype - phenotype established few correlations. But predicting the disease by finding mutations is not currently possible. NF1 exhibits a wide range of variability of expression and complete penetrance, even within the same family. About half of cases are new

  1. Implementation of Point-of-Care Diagnostics in Rural Primary Healthcare Clinics in South Africa: Perspectives of Key Stakeholders

    Directory of Open Access Journals (Sweden)

    Tivani P. Mashamba-Thompson

    2017-01-01

    Full Text Available Introduction: Key stakeholders’ involvement is crucial to the sustainability of quality point-of-care (POC diagnostics services in low-and-middle income countries. The aim of this study was to explore key stakeholder perceptions on the implementation of POC diagnostics in rural primary healthcare (PHC clinics in South Africa. Method: We conducted a qualitative study encompassing in-depth interviews with multiple key stakeholders of POC diagnostic services for rural and resource-limited PHC clinics. Interviews were digitally recorded and transcribed verbatim prior to thematic content analysis. Thematic content analysis was conducted using themes guided by the World Health Organisation (WHO quality-ASSURED (Affordable, Sensitive, Specific, User friendly, Rapid and to enable treatment at first visit and Robust, Equipment free and Delivered to those who need it criteria for POC diagnostic services in resource-limited settings. Results: 11 key stakeholders participated in the study. All stakeholders perceived the main advantage of POC diagnostics as enabling access to healthcare for rural patients. Stakeholders perceived the current POC diagnostic services to have an ability to meet patients’ needs, but recommended further improvement of the following areas: research on cost-effectiveness; improved quality management systems; development of affordable POC diagnostic and clinic-based monitoring and evaluation. Conclusions: Key stakeholders of POC diagnostics in rural PHC clinics in South Africa highlighted the need to assess affordability and ensure quality assurance of current services before adopting new POC diagnostics and scaling up current POC diagnostics.

  2. Implementation of Point-of-Care Diagnostics in Rural Primary Healthcare Clinics in South Africa: Perspectives of Key Stakeholders

    Science.gov (United States)

    Mashamba-Thompson, Tivani P.; Jama, Ngcwalisa A.; Sartorius, Benn; Drain, Paul K.; Thompson, Rowan M.

    2017-01-01

    Introduction: Key stakeholders’ involvement is crucial to the sustainability of quality point-of-care (POC) diagnostics services in low-and-middle income countries. The aim of this study was to explore key stakeholder perceptions on the implementation of POC diagnostics in rural primary healthcare (PHC) clinics in South Africa. Method: We conducted a qualitative study encompassing in-depth interviews with multiple key stakeholders of POC diagnostic services for rural and resource-limited PHC clinics. Interviews were digitally recorded and transcribed verbatim prior to thematic content analysis. Thematic content analysis was conducted using themes guided by the World Health Organisation (WHO) quality-ASSURED (Affordable, Sensitive, Specific, User friendly, Rapid and to enable treatment at first visit and Robust, Equipment free and Delivered to those who need it) criteria for POC diagnostic services in resource-limited settings. Results: 11 key stakeholders participated in the study. All stakeholders perceived the main advantage of POC diagnostics as enabling access to healthcare for rural patients. Stakeholders perceived the current POC diagnostic services to have an ability to meet patients’ needs, but recommended further improvement of the following areas: research on cost-effectiveness; improved quality management systems; development of affordable POC diagnostic and clinic-based monitoring and evaluation. Conclusions: Key stakeholders of POC diagnostics in rural PHC clinics in South Africa highlighted the need to assess affordability and ensure quality assurance of current services before adopting new POC diagnostics and scaling up current POC diagnostics. PMID:28075337

  3. [The clinical manifestations and diagnostics of otitis media caused by tuberculosis].

    Science.gov (United States)

    Kriukov, A I; Garov, E V; Ivoĭlov, A Y U; Shadrin, G B; Sidorina, N G; Lavrova, A S

    2015-01-01

    The objective of the present study was to clarify the characteristic pathognomonic features of middle ear lesions associated with tuberculosis and the approaches to their diagnostics under the present-day conditions. The study included 11 cases (18 ears) of tuberculosis otitis media and the related lesions of the mastoid process diagnosed with the use of clinical, roentgenological, cytological, bacteriological, pathomorphological, and molecular-genetic methods (including PCR diagnostics). The primary localization of tuberculosis in the middle ear was documented in 6 patients; in 5 patients, it was associated with pulmonary involvement. Five patients presented with smoldering exudative otitis media and the remaining six ones with suppurative perforating otitis media. The tuberculous process was diagnosed with the use of various methods including clinical examination, bacteriological (9%), cytological (27.3%), pathomorphological (18%) studies, and PCR diagnostics (55%). Diagnosis was made within a period from 1 month to 1.5 years after the application of the patients for medical assistance which suggests the difficulty of verification of tuberculous etiology of the disease of the middle ear. It is concluded that the high index of suspicion in the case of smoldering middle ear pathology facilitates its early diagnostics and successful treatment.

  4. Chronic kidney disease : Defining clinical cut-offs for albumin:creatinine ratio

    NARCIS (Netherlands)

    Bakker, Stephan J L

    2013-01-01

    Albuminuria is rapidly gaining recognition as a marker of the presence and of the progression of chronic kidney disease (CKD). In a new study, Naresh et al. attempt to define cut-off values for percentage change in urinary albumin:creatinine ratio that reflect changes in CKD status rather than

  5. Chronic kidney disease : Defining clinical cut-offs for albumin:creatinine ratio

    NARCIS (Netherlands)

    Bakker, Stephan J L

    2013-01-01

    Albuminuria is rapidly gaining recognition as a marker of the presence and of the progression of chronic kidney disease (CKD). In a new study, Naresh et al. attempt to define cut-off values for percentage change in urinary albumin:creatinine ratio that reflect changes in CKD status rather than rando

  6. Non-allergic rhinitis in children: Epidemiological aspects, pathological features, diagnostic methodology and clinical management.

    Science.gov (United States)

    Poddighe, Dimitri; Gelardi, Matteo; Licari, Amelia; Del Giudice, Michele Miraglia; Marseglia, Gian Luigi

    2016-12-26

    Chronic rhinitis is a very common disease, as the prevalence in the general population resulted to be 40%. Allergic rhinitis has been considered to be the most frequent form of chronic rhinitis, as non-allergic rhinitis has been estimated to account for 25%. However, several evidences suggested that non-allergic rhinitis have been underrated, especially in children. In pediatrics, the diagnostic definition of non-allergic rhinitis has been often limited to the exclusion of an allergic sensitization. Actually, local allergic rhinitis has been often misdiagnosed as well as mixed rhinitis has not been recognized in most cases. Nasal cytology is a diagnostic procedure being suitable for routine clinical practice with children and could be a very useful tool to characterize and diagnose non-allergic rhinitis, providing important clues for epidemiological analysis and clinical management.

  7. BRIEF REVIEW ON DIAGNOSTIC TECHNIQUE AND NOVEL MOLECULES IN CLINICAL TRIALS FOR TREATMENT OF BREAST CANCER

    Directory of Open Access Journals (Sweden)

    VISHAL KUMAR S. MODI

    2015-01-01

    Full Text Available Breast cancer is the most common cancer in women in both developed and undeveloped countries, and the second most frequent cause of cancer deaths after lung cancer. Although there have been many chemotherapeutic agents like 5-fluorouracil, taxol, tamoxifen, doxorubicin, cisplatin, and camptothecin and hormones are used to treat breast cancer. This review focuses on the causes of breast cancer, latest diagnostic techniques and various molecules under clinical trials for the treatment of breast cancer.

  8. Validation of secondary data sources to identify Parkinson disease against clinical diagnostic criteria.

    Science.gov (United States)

    Jain, Samay; Himali, Jayandra; Beiser, Alexa; Ton, Thanh G N; Kelly-Hayes, Margaret; Biggs, Mary Lou; Delaney, Joseph A C; Rosano, Caterina; Seshadri, Sudha; Frank, Samuel A

    2015-02-01

    Parkinson disease (PD) is the second most common neurodegenerative disorder. Its diagnosis relies solely on a clinical examination and is not straightforward because no diagnostic test exists. Large, population-based, prospective cohort studies designed to examine other outcomes that are more common than PD might provide cost-efficient alternatives for studying the disease. However, most cohort studies have not implemented rigorous systematic screening for PD. A majority of epidemiologic studies that utilize population-based prospective designs rely on secondary data sources to identify PD cases. Direct validation of these secondary sources against clinical diagnostic criteria is lacking. The Framingham Heart Study has prospectively screened and evaluated participants for PD based on clinical diagnostic criteria. We assessed the predictive value of secondary sources for PD identification relative to clinical diagnostic criteria in the Framingham Heart Study (2001-2012). We found positive predictive values of 1.0 (95% confidence interval: 0.868, 1.0), 1.0 (95% confidence interval: 0.839, 1.0), and 0.50 (95% confidence interval: 0.307, 0.694) for PD identified from self-report, use of antiparkinsonian medications, and Medicare claims, respectively. The negative predictive values were all higher than 0.99. Our results highlight the limitations of using only Medicare claims data and suggest that population-based cohorts may be utilized for the study of PD determined via self-report or medication inventories while preserving a high degree of confidence in the validity of PD case identification.

  9. Effect of clinical specialist physiotherapists in orthopaedic diagnostic setting - A systematic review

    DEFF Research Database (Denmark)

    Trøstrup, Jeanette; Mikkelsen, Lone Ramer; Juhl, Carsten

    with musculoskeletal complaint performed by Clinical Specialist Physiotherapists (CSP) compared to Orthopaedic Surgeons (OS) on diagnostic agreement, economic cost and patient satisfaction. Methods: A systematic review was performed by searching in MEDLINE, Cochrane Central Register of Controlled Trials (CENTRAL......), EMBASE, CINAHL, PEDro and reference lists of included studies and previously published systematic reviews. Studies evaluating 1) adults (18+) with a musculoskeletal complaint referred to orthopaedic outpatient assessment and 2) patient assessment performed by CSP were included. Studies conducted...

  10. Vertigo in childhood: proposal for a diagnostic algorithm based upon clinical experience.

    Science.gov (United States)

    Casani, A P; Dallan, I; Navari, E; Sellari Franceschini, S; Cerchiai, N

    2015-06-01

    The aim of this paper is to analyse, after clinical experience with a series of patients with established diagnoses and review of the literature, all relevant anamnestic features in order to build a simple diagnostic algorithm for vertigo in childhood. This study is a retrospective chart review. A series of 37 children underwent complete clinical and instrumental vestibular examination. Only neurological disorders or genetic diseases represented exclusion criteria. All diagnoses were reviewed after applying the most recent diagnostic guidelines. In our experience, the most common aetiology for dizziness is vestibular migraine (38%), followed by acute labyrinthitis/neuritis (16%) and somatoform vertigo (16%). Benign paroxysmal vertigo was diagnosed in 4 patients (11%) and paroxysmal torticollis was diagnosed in a 1-year-old child. In 8% (3 patients) of cases, the dizziness had a post-traumatic origin: 1 canalolithiasis of the posterior semicircular canal and 2 labyrinthine concussions, respectively. Menière's disease was diagnosed in 2 cases. A bilateral vestibular failure of unknown origin caused chronic dizziness in 1 patient. In conclusion, this algorithm could represent a good tool for guiding clinical suspicion to correct diagnostic assessment in dizzy children where no neurological findings are detectable. The algorithm has just a few simple steps, based mainly on two aspects to be investigated early: temporal features of vertigo and presence of hearing impairment. A different algorithm has been proposed for cases in which a traumatic origin is suspected.

  11. Official American Thoracic Society Clinical Practice Guidelines: Diagnostic Evaluation of Infants with Recurrent or Persistent Wheezing.

    Science.gov (United States)

    Ren, Clement L; Esther, Charles R; Debley, Jason S; Sockrider, Marianna; Yilmaz, Ozge; Amin, Nikhil; Bazzy-Asaad, Alia; Davis, Stephanie D; Durand, Manuel; Ewig, Jeffrey M; Yuksel, Hasan; Lombardi, Enrico; Noah, Terry L; Radford, Peggy; Ranganathan, Sarath; Teper, Alejandro; Weinberger, Miles; Brozek, Jan; Wilson, Kevin C

    2016-08-01

    Infantile wheezing is a common problem, but there are no guidelines for the evaluation of infants with recurrent or persistent wheezing that is not relieved or prevented by standard therapies. An American Thoracic Society-sanctioned guideline development committee selected clinical questions related to uncertainties or controversies in the diagnostic evaluation of wheezing infants. Members of the committee conducted pragmatic evidence syntheses, which followed the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) approach. The evidence syntheses were used to inform the formulation and grading of recommendations. The pragmatic evidence syntheses identified few studies that addressed the clinical questions. The studies that were identified constituted very low-quality evidence, consisting almost exclusively of case series with risk of selection bias, indirect patient populations, and imprecise estimates. The committee made conditional recommendations to perform bronchoscopic airway survey, bronchoalveolar lavage, esophageal pH monitoring, and a swallowing study. It also made conditional recommendations against empiric food avoidance, upper gastrointestinal radiography, and gastrointestinal scintigraphy. Finally, the committee recommended additional research about the roles of infant pulmonary function testing and food avoidance or dietary changes, based on allergy testing. Although infantile wheezing is common, there is a paucity of evidence to guide clinicians in selecting diagnostic tests for recurrent or persistent wheezing. Our committee made several conditional recommendations to guide clinicians; however, additional research that measures clinical outcomes is needed to improve our confidence in the effects of various diagnostic interventions and to allow advice to be provided with greater confidence.

  12. The Reproducibility of Changes in Diagnostic Figures of Merit Across Laboratory and Clinical Imaging Reader Studies.

    Science.gov (United States)

    Samuelson, Frank W; Abbey, Craig K

    2017-06-27

    In this paper we examine which comparisons of reading performance between diagnostic imaging systems made in controlled retrospective laboratory studies may be representative of what we observe in later clinical studies. The change in a meaningful diagnostic figure of merit between two diagnostic modalities should be qualitatively or quantitatively comparable across all kinds of studies. In this meta-study we examine the reproducibility of relative measures of sensitivity, false positive fraction (FPF), area under the receiver operating characteristic (ROC) curve, and expected utility across laboratory and observational clinical studies for several different breast imaging modalities, including screen film mammography, digital mammography, breast tomosynthesis, and ultrasound. Across studies of all types, the changes in the FPFs yielded very small probabilities of having a common mean value. The probabilities of relative sensitivity being the same across ultrasound and tomosynthesis studies were low. No evidence was found for different mean values of relative area under the ROC curve or relative expected utility within any of the study sets. The comparison demonstrates that the ratios of areas under the ROC curve and expected utilities are reproducible across laboratory and clinical studies, whereas sensitivity and FPF are not. Published by Elsevier Inc.

  13. Probability scores and diagnostic algorithms in pulmonary embolism: are they followed in clinical practice?

    Science.gov (United States)

    Sanjuán, Pilar; Rodríguez-Núñez, Nuria; Rábade, Carlos; Lama, Adriana; Ferreiro, Lucía; González-Barcala, Francisco Javier; Alvarez-Dobaño, José Manuel; Toubes, María Elena; Golpe, Antonio; Valdés, Luis

    2014-05-01

    Clinical probability scores (CPS) determine the pre-test probability of pulmonary embolism (PE) and assess the need for the tests required in these patients. Our objective is to investigate if PE is diagnosed according to clinical practice guidelines. Retrospective study of clinically suspected PE in the emergency department between January 2010 and December 2012. A D-dimer value ≥ 500 ng/ml was considered positive. PE was diagnosed on the basis of the multislice computed tomography angiography and, to a lesser extent, with other imaging techniques. The CPS used was the revised Geneva scoring system. There was 3,924 cases of suspected PE (56% female). Diagnosis was determined in 360 patients (9.2%) and the incidence was 30.6 cases per 100,000 inhabitants/year. Sensitivity and the negative predictive value of the D-dimer test were 98.7% and 99.2% respectively. CPS was calculated in only 24 cases (0.6%) and diagnostic algorithms were not followed in 2,125 patients (54.2%): in 682 (17.4%) because clinical probability could not be estimated and in 482 (37.6%), 852 (46.4%) and 109 (87.9%) with low, intermediate and high clinical probability, respectively, because the diagnostic algorithms for these probabilities were not applied. CPS are rarely calculated in the diagnosis of PE and the diagnostic algorithm is rarely used in clinical practice. This may result in procedures with potential significant side effects being unnecessarily performed or to a high risk of underdiagnosis. Copyright © 2013 SEPAR. Published by Elsevier Espana. All rights reserved.

  14. Clinical implications for biochemical diagnostic thresholds of adrenal sufficiency using a highly specific cortisol immunoassay.

    Science.gov (United States)

    Kline, G A; Buse, J; Krause, R D

    2017-06-01

    Recent guidelines recommend a diagnosis of adrenal insufficiency when a stimulated peak cortisol level falls below 500nmol/L. This may not be valid using a highly specific cortisol immunoassay or liquid chromatography-mass spectroscopy (LCMS/MS). We sought to determine the diagnostic threshold for adrenal insufficiency using a new and widely available, highly specific cortisol immunoassay. All patients having a dynamic test of adrenal reserve had results measured using the historical cortisol assay (Roche Cortisol) and the newer assay (Roche Cortisol II). Subjects were categorized according to the traditional assay (normal>500nmol/L) with clinical case adjudication where necessary. Results from Cortisol II assay were concomitantly measured along with cortisol levels measured by LCMS/MS. ROC curve analysis was performed to generate new diagnostic thresholds. The Roche Cortisol II compared favourably with measures by LCMS/MS, generating cortisol levels approximately 30% lower than the older immunoassay. Many normal subjects had peak cortisols as low as 300nmol/L with Cortisol II. The optimized diagnostic threshold for adrenal insufficiency was 350nmol/L with a sensitivity of 91% and specificity 97%. Use of the old diagnostic threshold with the Cortisol II assay would have inappropriately doubled the rate of patient-classification as adrenal insufficient. Transition to a more specific cortisol assay requires revision of diagnostic thresholds for dynamic tests of adrenal insufficiency. With the Roche Cortisol II assay, a cut-off of 350nmol/L should replace the traditional 500nmol/L although some healthy subjects may be very close to this level. Copyright © 2017 The Canadian Society of Clinical Chemists. All rights reserved.

  15. Clinical research and diagnostic efficacy studies in the oral and maxillofacial radiology literature: 1996–2005

    Science.gov (United States)

    Kim, IH; Patel, MJ; Hirt, SL; Kantor, ML

    2011-01-01

    Objectives The aim of this study was to determine the level of evidence that is published in the oral and maxillofacial radiology (OMR) literature. Methods OMR papers published in Dentomaxillofacial Radiology and Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology between 1996 and 2005 were classified using epidemiological study design and diagnostic efficacy hierarchies. The country of origin and number of authors were noted. Results Of the 725 articles, 384 could be classified with the epidemiological study design hierarchy: 155 (40%) case reports/series and 207 (54%) cross-sectional studies. The distribution of study designs was not statistically significant across time (Fisher's exact test, P = 0.06) or regions (P = 0.89). The diagnostic efficacy hierarchy was applicable to 246 articles: 71 (29%) technical efficacy and 166 (67%) diagnostic accuracy studies. The distribution of efficacy levels was not statistically significant across time (P = 0.22) but was significant across regions (P < 0.01). Authors from Japan produced 26% of the papers with a mean ± standard deviation of 5.78 ± 1.98 authors per paper (APP); American authors, 23% (3.78 ± 1.72 APP); and all others, 51% (3.76 ± 1.51 APP). Conclusion The OMR literature consisted mostly of case reports/series, cross-sectional, technical efficacy and diagnostic accuracy studies. Such studies do not provide strong evidence for clinical decision making nor do they address the impact of diagnostic imaging on patient care. More studies at the higher end of the study design and efficacy hierarchies are needed in order to make wise choices regarding clinical decisions and resource allocations. PMID:21697152

  16. IgE Abs to Der p 1 and Der p 2 as diagnostic markers of house dust mite allergy as defined by a bronchoprovocation test.

    Science.gov (United States)

    Minami, Takafumi; Fukutomi, Yuma; Lidholm, Jonas; Yasueda, Hiroshi; Saito, Akemi; Sekiya, Kiyoshi; Tsuburai, Takahiro; Maeda, Yuji; Mori, Akio; Taniguchi, Masami; Hasegawa, Maki; Akiyama, Kazuo

    2015-01-01

    Limited information is available regarding the clinical usefulness of measuring the levels of IgE to allergen components from house dust mites (HDMs) in the diagnosis of genuine HDM allergy. To evaluate the diagnostic usefulness of measuring levels of serum IgE antibodies (Abs) to allergen components from Dermatophagoides pteronyssinus (DP) as a predictor of immediate asthmatic response (IAR) to bronchoprovocation, we studied 55 DP-sensitized asthmatic patients who underwent a bronchoprovocation test using crude DP extract. The levels of IgE Abs to crude DP, nDer p 1, rDer p 2, and rDer p 10 in patients who showed IAR (n = 41) were compared with those in patients who showed no IAR (n = 14). While the frequencies of positivity for IgE Abs to nDer p 1 and rDer p 2 among the entire study population were 89 and 86%, respectively, all patients with IAR tested positive for both of them with high IgE concentrations. The areas under the receiver operating characteristic curves for IgE to nDer p 1 and rDer p 2 as predictors of IAR were 0.913 and 0.906, respectively. The specificity of IgE to nDer p 1 and rDer p 2 was higher than IgE to crude DP even at low cut-off points. IgE to nDer p 1 and/or rDer p 2 was highly predictive of allergen-induced IAR. These findings validate the clinical usefulness of measuring the levels of IgE to nDer p 1 and rDer p 2 as a diagnostic tool for genuine HDM allergy. Copyright © 2014 Japanese Society of Allergology. Production and hosting by Elsevier B.V. All rights reserved.

  17. Clinical implications of chronic heart failure phenotypes defined by cluster analysis.

    Science.gov (United States)

    Ahmad, Tariq; Pencina, Michael J; Schulte, Phillip J; O'Brien, Emily; Whellan, David J; Piña, Ileana L; Kitzman, Dalane W; Lee, Kerry L; O'Connor, Christopher M; Felker, G Michael

    2014-10-28

    Classification of chronic heart failure (HF) is on the basis of criteria that may not adequately capture disease heterogeneity. Improved phenotyping may help inform research and therapeutic strategies. This study used cluster analysis to explore clinical phenotypes in chronic HF patients. A cluster analysis was performed on 45 baseline clinical variables from 1,619 participants in the HF-ACTION (Heart Failure: A Controlled Trial Investigating Outcomes of Exercise Training) study, which evaluated exercise training versus usual care in chronic systolic HF. An association between identified clusters and clinical outcomes was assessed using Cox proportional hazards modeling. Differential associations between clinical outcomes and exercise testing were examined using interaction testing. Four clusters were identified (ranging from 248 to 773 patients in each), in which patients varied considerably among measures of age, sex, race, symptoms, comorbidities, HF etiology, socioeconomic status, quality of life, cardiopulmonary exercise testing parameters, and biomarker levels. Differential associations were observed for hospitalization and mortality risks between and within clusters. Compared with cluster 1, risk of all-cause mortality and/or all-cause hospitalization ranged from 0.65 (95% confidence interval [95% CI]: 0.54 to 0.78) for cluster 4 to 1.02 (95% CI: 0.87 to 1.19) for cluster 3. However, for all-cause mortality, cluster 3 had a disproportionately lower risk of 0.61 (95% CI: 0.44 to 0.86). Evidence suggested differential effects of exercise treatment on changes in peak oxygen consumption and clinical outcomes between clusters (p for interaction Cluster analysis of clinical variables identified 4 distinct phenotypes of chronic HF. Our findings underscore the high degree of disease heterogeneity that exists within chronic HF patients and the need for improved phenotyping of the syndrome. (Exercise Training Program to Improve Clinical Outcomes in Individuals With

  18. Impact of clinical awareness and diagnostic tests on the underdiagnosis of Clostridium difficile infection.

    Science.gov (United States)

    Alcalá, L; Reigadas, E; Marín, M; Martín, A; Catalán, P; Bouza, E

    2015-08-01

    A multicenter study of Clostridium difficile infection (CDI) performed during 2008 in Spain revealed that two of every three episodes went undiagnosed or were misdiagnosed owing to nonsensitive diagnostic tests or lack of clinical suspicion and request. Since then, efforts have been made to improve the diagnostic tests used by laboratories and to increase the awareness of this disease among both clinicians and microbiologists. Our objective was to evaluate the impact of these efforts by assessing the current magnitude of underdiagnosis of CDI in Spain using two point-prevalence studies performed on one day each in January and July of 2013. A total of 111 Spanish laboratories selected all unformed stool specimens received for microbiological diagnosis on these days, and toxigenic culture was performed at a central reference laboratory. Toxigenic isolates were characterized both pheno- and genotypically. The reference laboratory detected 103 episodes of CDI in patients aged 2 years or more. Half (50.5 %) of the episodes were not diagnosed in the participating laboratories, owing to insensitive diagnostic tests (15.5 %) or the lack of clinical suspicion and request (35.0 %). The main ribotypes were 014, 078/126, 001/072, and 106. Ribotype 027 caused 2.9 % of all cases. Despite all the interventions undertaken, CDI remains a highly neglected disease because of the lack of sensitive diagnostic tests in some institutions and, especially, the absence of clinical suspicion, mainly in patients with community-associated CDI. Toxigenic C. difficile should be routinely sought in unformed stools sent for microbiological diagnosis, regardless of their origin.

  19. Systematic internal transcribed spacer sequence analysis for identification of clinical mold isolates in diagnostic mycology: a 5-year study.

    Science.gov (United States)

    Ciardo, Diana E; Lucke, Katja; Imhof, Alex; Bloemberg, Guido V; Böttger, Erik C

    2010-08-01

    The implementation of internal transcribed spacer (ITS) sequencing for routine identification of molds in the diagnostic mycology laboratory was analyzed in a 5-year study. All mold isolates (n = 6,900) recovered in our laboratory from 2005 to 2009 were included in this study. According to a defined work flow, which in addition to troublesome phenotypic identification takes clinical relevance into account, 233 isolates were subjected to ITS sequence analysis. Sequencing resulted in successful identification for 78.6% of the analyzed isolates (57.1% at species level, 21.5% at genus level). In comparison, extended in-depth phenotypic characterization of the isolates subjected to sequencing achieved taxonomic assignment for 47.6% of these, with a mere 13.3% at species level. Optimization of DNA extraction further improved the efficacy of molecular identification. This study is the first of its kind to testify to the systematic implementation of sequence-based identification procedures in the routine workup of mold isolates in the diagnostic mycology laboratory.

  20. Clinical utility of machine learning approaches in schizophrenia: Improving diagnostic confidence for translational neuroimaging

    Directory of Open Access Journals (Sweden)

    Sarina eIwabuchi

    2013-08-01

    Full Text Available Machine-learning approaches are becoming commonplace in the neuroimaging literature as potential diagnostic and prognostic tools for the study of clinical populations. However, very few studies provide clinically informative measures to aid in decision-making and resource allocation. Head-to-head comparison of neuroimaging-based multivariate classifiers is an essential first step to promote translation of these tools to clinical practice. We systematically evaluated the classifier performance using back-to-back structural MRI in two field strengths (3-Tesla and 7-Tesla to discriminate patients with schizophrenia (n=19 from healthy controls (n=20. Grey (GM and white matter (WM images were used as inputs into a support vector machine (SVM to classify patients and control subjects. 7T classifiers outperformed the 3T classifiers with accuracy reaching as high as 77% for the 7T GM classifier compared to 66.6% for the 3T GM classifier. Furthermore, diagnostic odds ratio (a measure that is not affected by variations in sample characteristics and number needed to predict (a measure based on Bayesian certainty of a test result indicated superior performance of the 7T classifiers, whereby for each correct diagnosis made, the number of patients that need to be examined using the 7T GM classifier was one less than the number that need to be examined if a different classifier was used. Using a hypothetical example, we highlight how these findings could have significant implications for clinical decision-making. We encourage the reporting of measures proposed here in future studies utilizing machine-learning approaches. This will not only promote the search for an optimum diagnostic tool but also aid in the translation of neuroimaging to clinical use.

  1. [Epidemiology of Minamata Disease--Focus on the Clinical Features Related to the 1977 Diagnostic Criteria].

    Science.gov (United States)

    Futatsuka, Makoto

    2015-01-01

    Large-scale food poisoning caused by methylmercury was identified in Minamata, Japan, in the 1950s (Minamata Disease). Although the diagnostic criteria for the disease was controversial and difficult during that time, we, the Kumamoto University Study Group, carried out a large-scale study to assess the clinical features in 1972-1973. The author tried to reassess the results of that study to appraise the diagnostic criteria established in 1977 on the basis of those results. A substantial number of residents in the exposed area exhibited neurologic signs, especially paresthesia of only the extremities, namely, the male residents of Minamata City showed a positive predictive value of 0.73 and a negative predictive value of 0.23. The relative risks of paresthesia only were 2.6 (2.0-3.3) and 1.2 (0.9-1.5), in Minamata and Goshonoura related to Ariake (control), respectively. At least until 1977, the diagnostic criteria remained valid, although it was inadequate. Nevertheless, presently, a follow-up study of the certified patients may lead to the development of efficient new diagnostic criteria.

  2. Diagnostic discrepancies in clinical practice: An autopsy study in patients with heart failure.

    Science.gov (United States)

    Issa, Victor Sarli; Dinardi, Layara Fernanda Lipari; Pereira, Thiago Vicente; de Almeida, Lyna Kyria Rodrigues; Barbosa, Thaisa Silveira; Benvenutti, Luiz Alberto; Ayub-Ferreira, Silvia Moreira; Bocchi, Edimar Alcides

    2017-01-01

    Autopsies are the gold standard for diagnostic accuracy; however, no recent study has analyzed autopsies in heart failure (HF).We reviewed 1241 autopsies (January 2000-May 2005) and selected 232 patients with HF. Clinical and autopsy diagnoses were analyzed and discrepancies categorized according to their importance regarding therapy and prognosis.Mean age was 63.3 ± 15.9 years; 154 (66.4%) patients were male. The causes of death at autopsy were end-stage HF (40.9%), acute myocardial infarction (17.2%), infection (15.9), and pulmonary embolism 36 (15.5). Diagnostic discrepancies occurred in 191 (82.3%) cases; in 56 (24.1%), discrepancies were related to major diagnoses with potential influence on survival or treatment; pulmonary embolism was the cause of death for 24 (42.9%) of these patients. In 35 (15.1%), discrepancies were related to a major diagnosis with equivocal influence on survival or treatment; in 100 (43.1%), discrepancies did not influence survival or treatment. In multivariate analysis, age (OR: 1.03, 95% CI: 1.008-1.052, P = 0.007) and presence of diabetes mellitus (OR: 0.359, 95% CI: 0.168-0.767, P = 0.008) influenced the occurrence discrepancies.Diagnostic discrepancies with a potential impact on prognosis are frequent in HF. These findings warrant reconsideration in diagnostic and therapeutic practices with HF patients.

  3. MRI-defined subcortical ischemic vascular disease: baseline clinical and neuropsychological findings. The LADIS Study

    DEFF Research Database (Denmark)

    Jokinen, Hanna; Kalska, Hely; Ylikoski, Raija

    2009-01-01

    and Disability (LADIS) study, aged 65-84 years, underwent comprehensive clinical and neuropsychological examinations, and brain MRI at the baseline assessment. The subjects meeting the SIVD imaging criteria (n = 89) were compared to the other subjects of the sample (n = 524). RESULTS: SIVD was associated...... of global cognitive function, psychomotor speed, attention and executive functions, verbal fluency, and working memory. CONCLUSION: In this population of nondisabled older adults with WML, SIVD was related to specific clinical and functional characteristics. Neuropsychological features included psychomotor...

  4. An Alternative Approach to Defining the Role of the Clinical Teacher.

    Science.gov (United States)

    Ullian, John A.; And Others

    1994-01-01

    A study investigated medical residents' perceptions of the important components of the clinical teacher's role, and possible differences in first- and third-year residents' perceptions, based on comments written on 268 residents' evaluation forms of 490 teachers. Results suggest this methodology is useful and contributes to definition of the…

  5. A conceptual framework and protocol for defining clinical decision support objectives applicable to medical specialties

    Directory of Open Access Journals (Sweden)

    Timbie Justin W

    2012-09-01

    Full Text Available Abstract Background The U.S. Centers for Medicare and Medicaid Services established the Electronic Health Record (EHR Incentive Program in 2009 to stimulate the adoption of EHRs. One component of the program requires eligible providers to implement clinical decision support (CDS interventions that can improve performance on one or more quality measures pre-selected for each specialty. Because the unique decision-making challenges and existing HIT capabilities vary widely across specialties, the development of meaningful objectives for CDS within such programs must be supported by deliberative analysis. Design We developed a conceptual framework and protocol that combines evidence review with expert opinion to elicit clinically meaningful objectives for CDS directly from specialists. The framework links objectives for CDS to specialty-specific performance gaps while ensuring that a workable set of CDS opportunities are available to providers to address each performance gap. Performance gaps may include those with well-established quality measures but also priorities identified by specialists based on their clinical experience. Moreover, objectives are not constrained to performance gaps with existing CDS technologies, but rather may include those for which CDS tools might reasonably be expected to be developed in the near term, for example, by the beginning of Stage 3 of the EHR Incentive program. The protocol uses a modified Delphi expert panel process to elicit and prioritize CDS meaningful use objectives. Experts first rate the importance of performance gaps, beginning with a candidate list generated through an environmental scan and supplemented through nominations by panelists. For the highest priority performance gaps, panelists then rate the extent to which existing or future CDS interventions, characterized jointly as “CDS opportunities,” might impact each performance gap and the extent to which each CDS opportunity is compatible with

  6. Making the Leap from Research Laboratory to Clinic: Challenges and Opportunities for Next-Generation Sequencing in Infectious Disease Diagnostics.

    Science.gov (United States)

    Goldberg, Brittany; Sichtig, Heike; Geyer, Chelsie; Ledeboer, Nathan; Weinstock, George M

    2015-12-08

    Next-generation DNA sequencing (NGS) has progressed enormously over the past decade, transforming genomic analysis and opening up many new opportunities for applications in clinical microbiology laboratories. The impact of NGS on microbiology has been revolutionary, with new microbial genomic sequences being generated daily, leading to the development of large databases of genomes and gene sequences. The ability to analyze microbial communities without culturing organisms has created the ever-growing field of metagenomics and microbiome analysis and has generated significant new insights into the relation between host and microbe. The medical literature contains many examples of how this new technology can be used for infectious disease diagnostics and pathogen analysis. The implementation of NGS in medical practice has been a slow process due to various challenges such as clinical trials, lack of applicable regulatory guidelines, and the adaptation of the technology to the clinical environment. In April 2015, the American Academy of Microbiology (AAM) convened a colloquium to begin to define these issues, and in this document, we present some of the concepts that were generated from these discussions.

  7. Doing diagnosis: whether and how clinicians use a diagnostic tool of uncertain clinical utility.

    Science.gov (United States)

    Armstrong, Natalie; Hilton, Paul

    2014-11-01

    Diagnosis is fundamental to the practice of medicine and mastery of it is central to the process of both becoming and practicing as a doctor. We focus on diagnosis as a process, in particular from the perspective of clinicians performing it. We explore how UK clinicians exercise discretion about whether and how to use a diagnostic tool (invasive urodynamic tests - IUT) for which there is, currently, no clear, high-quality evidence. Interviews were conducted with a purposive sample of 18 clinicians who had previously completed a survey on their use of IUT. Analysis was based on the constant comparative method. Participants tended to be polarised in their view of IUT. While many regarded it as a valuable diagnostic tool that they used frequently and thought was important, others reported using it only infrequently, and some were sceptical of its value in the diagnostic process even if they commonly used it. In addition to the anticipated clinical functions (e.g. adding to understanding of the condition, helping determine best treatment) there were additional, more social, functions that IUT could serve, including fitting in with local practice and helping to defend against possible future litigation. We discern two distinct approaches to the practice of diagnosis: one approach means 'leaving no stone unturned' and seeking all available evidence, proven or otherwise; while a second means using clinical judgement to say 'enough is enough' and thereby avoid exposing patients to possibly unnecessary tests and potentially wasting scarce healthcare resources.

  8. Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region

    OpenAIRE

    Nurgul Ceran; Recai Turkoglu; Ilknur Erdem; Asuman Inan; Derya Engin; Hulya Tireli; Pasa Goktas

    2011-01-01

    Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, s...

  9. Clinical Efficacy of Various Diagnostic Tests for Small Bowel Tumors and Clinical Features of Tumors Missed by Capsule Endoscopy

    Directory of Open Access Journals (Sweden)

    Jung Wan Han

    2015-01-01

    Full Text Available Background. We aimed to evaluate the efficacy of various diagnostic tools such as computerized tomography (CT, small bowel follow-through (SBFT, and capsule endoscopy (CE in diagnosing small bowel tumors (SBTs. Additionally, we aimed to evaluate the clinical features of SBTs missed by CE. Methods. We retrospectively studied 79 patients with histologically proven SBT. Clinical data were analyzed with particular attention to the efficacy of CT, SBFT, and CE in detecting SBT preoperatively. We also analyzed the clinical features of SBTs missed by CE. Results. The most common symptoms of SBT were bleeding (43% and abdominal pain (13.9%. Diagnostic yields were as follows: CT detected 55.8% of proven SBTs; SBFT, 46.1%; and CE, 83.3%. The sensitivity for detecting SBTs was 40.4% for CT, 43.9% for SBFT, and 79.6% for CE. Two patients with nondiagnostic but suspicious findings on CE and seven patients with negative findings on CE were eventually found to have SBT. These nine patients were eventually diagnosed with gastrointestinal stromal tumor (4, small polyps (3, inflammatory fibroid polyp (1, and adenocarcinoma (1. These tumors were located in the proximal jejunum (5, middle jejunum (1, distal jejunum (1, and proximal ileum (1. Conclusion. CE is more efficacious than CT or SBFT for detecting SBTs. However, significant tumors may go undetected with CE, particularly when located in the proximal jejunum.

  10. Small-Fiber Neuropathy: A Diabetic Microvascular Complication of Special Clinical, Diagnostic, and Prognostic Importance.

    Science.gov (United States)

    Körei, A E; Istenes, I; Papanas, N; Kempler, P

    2016-01-01

    Damage of small nerve fibers may lead to a large variety of clinical symptoms. Small-fiber neuropathy underlies the symptoms of painful diabetic neuropathy, which may decrease quality of life. It also contributes to the poor prognosis of diabetic neuropathy because it plays a key role in the pathogenesis of foot ulceration and autonomic neuropathy. Impairment of small nerve fibers is considered the earliest alteration in the course of diabetic neuropathy. Therefore, assessment of functional and morphological abnormalities of small nerve fibers may enable timely diagnosis. The definition, symptoms, and clinical significance of small-fiber neuropathy are considered in the present review. An apparently more complex interaction between small-fiber impairment and microcirculation is extensively discussed. Diagnostic modalities include morphometric and functional methods. Corneal confocal microscopy and punch skin biopsy are considered gold standards, but noninvasive functional tests are also diagnostically useful. However, in routine clinical practice, small-fiber neuropathy is diagnosed by its typical clinical presentation. Finally, prompt treatment should be initiated following diagnosis.

  11. Dental diagnostic clinical instrument ('Canary') development using photothermal radiometry and modulated luminescence

    Energy Technology Data Exchange (ETDEWEB)

    Jeon, R J; Sivagurunathan, K; Garcia, J; Matvienko, A; Mandelis, A [Center for Advanced Diffusion Wave Technologies (CADIFT), Department of Mechanical and Industrial Engineering, University of Toronto, 5 King' s College Road, Toronto, Ontario, M5S 3G8 (Canada); Abrams, S, E-mail: mandelis@mie.utoronto.c [Quantum Dental Technologies, 748 Briar Hill Avenue, Toronto, Ontario, M6B 1L3 (Canada)

    2010-03-01

    Since 1999, our group at the CADIFT, University of Toronto, has developed the application of Frequency Domain Photothermal Radiometry (PTR) and Luminescence (LUM) to dental caries detection. Various cases including artificial caries detection have been studied and some of the inherent advantages of the adaptation of this technique to dental diagnostics in conjunction with modulated luminescence as a dual-probe technique have been reported. Based on these studies, a portable, compact diagnostic instrument for dental clinic use has been designed, assembled and tested. A semiconductor laser, optical fibers, a thermoelectric cooled mid-IR detector, and a USB connected data acquisition card were used. Software lock-in amplifier techniques were developed to compute amplitude and phase of PTR and LUM signals. In order to achieve fast measurement and acceptable signal-to-noise ratio (SNR) for clinical application, swept sine waveforms were used. As a result sampling and stabilization time for each measurement point was reduced to a few seconds. A sophisticated software interface was designed to simultaneously record intra-oral camera images with PTR and LUM responses. Preliminary results using this instrument during clinical trials in a dental clinic showed this instrument could detect early caries both from PTR and LUM signals.

  12. [The reactions of hypersensitivity: the mechanisms of development, clinical manifestations, principles of diagnostic (a lecture)].

    Science.gov (United States)

    Tukavkina, S Yu; Kharseyeva, G G

    2014-05-01

    The article considers the principles of modern classification of hypersensitivity, pathogenic mechanisms of formation of its various types resulting in development of typical clinical symptoms and syndromes. The knowledge and comprehension of these issues is important for physicians of different specializations since it permits to properly make out and formulate diagnosis and timely send patient for examination and treatment to such specialist as allergist-immunologist. The particular attention was paid to description of pathogenesis of diseases and syndromes underlaid by IgE-mediated type of hypersensitivity since their share is highest and clinical manifestations frequently require emergency medical care. The diagnostic of allergic diseases is to be implemented sequentially (step-by-step) and include common clinical and special (specific) methods. In case of choosing of extent of specialized allergological examination the diagnostic significance of techniques and their safety is to be taken into account concerning condition of patient. The diagnosis is objectively formulated only by complex of examination results. It is worth to remember about possibility of development of syndromes similar to IgE-mediated allergy by their clinical manifestations but belonging to non-allergic type of hypersensitivity. It is important to know main causes, mechanisms and ways of formation of such reactions previously named as anaphylactoid ones.

  13. [The issues and basic principles of training of physicians of clinical laboratory diagnostics].

    Science.gov (United States)

    Morozova, V T; Naumova, E V

    2012-07-01

    The article considers the main positions concerning the clinical laboratory diagnostics as an independent clinical specialty and the principles of professional training and improvement of specialists. The basic issues complicating the training and improvement of personnel to be kept in line with actual needs of laboratory service of public health system are discussed. Among them are the availability of laboratory academic sub disciplines demanding a profound special theoretical education and technical skills; the need to account in the process of professional training the variety of forms, sizes and types of laboratory structures in different medical institutions; the need of special training programs for numerous specialists with non-medical basic education. The combination of the present system of postgraduate training of specialists on chairs of state educational organizations with initiative involvement of specialists in various public forms of permanent professional improvement (professional scientific societies meetings, research conferences, internet seminars, etc.) is supported Along with a positive appraisal of the existing system of training in the state educational institutions and corresponding regulation documents, a critique is expressed regarding certain actual documents which improperly limit the administrative functions of physicians of clinical laboratory diagnostics and complicate training of bacteriologists for clinical laboratories.

  14. Defining Quality of Life Levels to Enhance Clinical Interpretation in Multiple Sclerosis: Application of a Novel Clustering Method.

    Science.gov (United States)

    Michel, Pierre; Baumstarck, Karine; Boyer, Laurent; Fernandez, Oscar; Flachenecker, Peter; Pelletier, Jean; Loundou, Anderson; Ghattas, Badih; Auquier, Pascal

    2017-01-01

    To enhance the use of quality of life (QoL) measures in clinical practice, it is pertinent to help clinicians interpret QoL scores. The aim of this study was to define clusters of QoL levels from a specific questionnaire (MusiQoL) for multiple sclerosis (MS) patients using a new method of interpretable clustering based on unsupervised binary trees and to test the validity regarding clinical and functional outcomes. In this international, multicenter, cross-sectional study, patients with MS were classified using a hierarchical top-down method of Clustering using Unsupervised Binary Trees. The clustering tree was built using the 9 dimension scores of the MusiQoL in 2 stages, growing and tree reduction (pruning and joining). A 3-group structure was considered, as follows: "high," "moderate," and "low" QoL levels. Clinical and QoL data were compared between the 3 clusters. A total of 1361 patients were analyzed: 87 were classified with "low," 1173 with "moderate," and 101 with "high" QoL levels. The clustering showed satisfactory properties, including repeatability (using bootstrap) and discriminancy (using factor analysis). The 3 clusters consistently differentiated patients based on sociodemographic and clinical characteristics, and the QoL scores were assessed using a generic questionnaire, ensuring the clinical validity of the clustering. The study suggests that Clustering using Unsupervised Binary Trees is an original, innovative, and relevant classification method to define clusters of QoL levels in MS patients.

  15. Cost-effectiveness of malaria diagnosis using rapid diagnostic tests compared to microscopy or clinical symptoms alone in Afghanistan

    DEFF Research Database (Denmark)

    Hansen, Kristian S; Grieve, Eleanor; Mikhail, Amy;

    2015-01-01

    BACKGROUND: Improving access to parasitological diagnosis of malaria is a central strategy for control and elimination of the disease. Malaria rapid diagnostic tests (RDTs) are relatively easy to perform and could be used in primary level clinics to increase coverage of diagnostics and improve tr...

  16. Next-generation sequencing-based genome diagnostics across clinical genetics centers : implementation choices and their effects

    NARCIS (Netherlands)

    Vrijenhoek, Terry; Kraaijeveld, Ken; Elferink, Martin; de Ligt, Joep; Kranendonk, Elcke; Santen, Gijs; Nijman, Isaac J.; Butler, Derek; Claes, Godelieve; Costessi, Adalberto; Dorlijn, Wim; van Eyndhoven, Winfried; Halley, Dicky J. J.; van den Hout, Mirjam C. G. N.; van Hove, Steven; Johansson, Lennart F.; Jongbloed, Jan D. H.; Kamps, Rick; Kockx, Christel E. M.; de Koning, Bart; Kriek, Marjolein; Deprez, Ronald Lekanne Dit; Lunstroo, Hans; Mannens, Marcel; Mook, Olaf R.; Nelen, Marcel; Ploem, Corrette; Rijnen, Marco; Saris, Jasper J.; Sinke, Richard; Sistermans, Erik; van Slegtenhorst, Marjon; Sleutels, Frank; van der Stoep, Nienke; van Tienhoven, Marianne; Vermaat, Martijn; Vogel, Maartje; Waisfisz, Quinten; Weiss, Janneke Marjan; van den Wijngaard, Arthur; van Workum, Wilbert; Ijntema, Helger; van der Zwaag, Bert; van IJcken, Wilfred F. J.; den Dunnen, Johan T.; Veltman, Joris A.; Hennekam, Raoul; Cuppen, Edwin

    2015-01-01

    Implementation of next-generation DNA sequencing (NGS) technology into routine diagnostic genome care requires strategic choices. Instead of theoretical discussions on the consequences of such choices, we compared NGS-based diagnostic practices in eight clinical genetic centers in the Netherlands, b

  17. Cushing Syndrome: Diagnostic Workup and Imaging Features, With Clinical and Pathologic Correlation.

    Science.gov (United States)

    Wagner-Bartak, Nicolaus A; Baiomy, Ali; Habra, Mouhammed Amir; Mukhi, Shalini V; Morani, Ajaykumar C; Korivi, Brinda R; Waguespack, Steven G; Elsayes, Khaled M

    2017-07-01

    Cushing syndrome (CS) is a constellation of clinical signs and symptoms resulting from chronic exposure to excess cortisol, either exogenous or endogenous. Exogenous CS is most commonly caused by administration of glucocorticoids. Endogenous CS is subdivided into two types: adrenocorticotropic hormone (ACTH) dependent and ACTH independent. Cushing disease, which is caused by a pituitary adenoma, is the most common cause of ACTH-dependent CS for which pituitary MRI can be diagnostic, with bilateral inferior petrosal sinus sampling useful in equivocal cases. In ectopic ACTH production, which is usually caused by a tumor in the thorax (e.g., small cell lung carcinoma, bronchial and thymic carcinoids, or medullary thyroid carcinoma) or abdomen (e.g., gastroenteropancreatic neuroendocrine tumors or pheochromocytoma), CT, MRI, and nuclear medicine tests are used for localizing the source of ACTH. In ACTH-independent CS, which is caused by various adrenal abnormalities, adrenal protocol CT or MRI is usually diagnostic.

  18. Infant Hip Joint Diagnostic Support System Based on Clinical Manifestations in X-ray Images

    Directory of Open Access Journals (Sweden)

    Honda,Mitsugi

    2010-06-01

    Full Text Available Plain X-ray radiography is frequently used for the diagnosis of developmental dislocation of the hip (DDH. The aim of this study was to construct a diagnostic support system for DDH based on clinical findings obtained from the X-ray images of 154 female infants with confirmed diagnoses made by orthopedists. The data for these subjects were divided into 2 groups. The Min-Max method of nonlinear analysis was applied to the data from Group 1 to construct the diagnostic support system based on the measurement of 4 items in X-ray images:the outward displacement rate, upward displacement rate, OE angle, and alpha angle. This system was then applied to the data from Group 2, and the results were compared between the 2 groups to verify the reliability of the system. We obtained good results that matched the confirmed diagnoses of orthopedists with an accuracy of 85.9%.

  19. Moving beyond quality control in diagnostic radiology and the role of the clinically qualified medical physicist.

    Science.gov (United States)

    Delis, H; Christaki, K; Healy, B; Loreti, G; Poli, G L; Toroi, P; Meghzifene, A

    2017-09-01

    Quality control (QC), according to ISO definitions, represents the most basic level of quality. It is considered to be the snapshot of the performance or the characteristics of a product or service, in order to verify that it complies with the requirements. Although it is usually believed that "the role of medical physicists in Diagnostic Radiology is QC", this, not only limits the contribution of medical physicists, but is also no longer adequate to meet the needs of Diagnostic Radiology in terms of Quality. In order to assure quality practices more organized activities and efforts are required in the modern era of diagnostic radiology. The complete system of QC is just one element of a comprehensive quality assurance (QA) program that aims at ensuring that the requirements of quality of a product or service will consistently be fulfilled. A comprehensive Quality system, starts even before the procurement of any equipment, as the need analysis and the development of specifications are important components under the QA framework. Further expanding this framework of QA, a comprehensive Quality Management System can provide additional benefits to a Diagnostic Radiology service. Harmonized policies and procedures and elements such as mission statement or job descriptions can provide clarity and consistency in the services provided, enhancing the outcome and representing a solid platform for quality improvement. The International Atomic Energy Agency (IAEA) promotes this comprehensive quality approach in diagnostic imaging and especially supports the field of comprehensive clinical audits as a tool for quality improvement. Copyright © 2017 Associazione Italiana di Fisica Medica. Published by Elsevier Ltd. All rights reserved.

  20. Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.

    Science.gov (United States)

    Schrijver, Iris; Aziz, Nazneen; Farkas, Daniel H; Furtado, Manohar; Gonzalez, Andrea Ferreira; Greiner, Timothy C; Grody, Wayne W; Hambuch, Tina; Kalman, Lisa; Kant, Jeffrey A; Klein, Roger D; Leonard, Debra G B; Lubin, Ira M; Mao, Rong; Nagan, Narasimhan; Pratt, Victoria M; Sobel, Mark E; Voelkerding, Karl V; Gibson, Jane S

    2012-11-01

    This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing. With the reality of clinical application of next-generation sequencing, technical aspects of molecular testing can be accomplished at greater speed and with higher volume, while much information is obtained. Although this testing is a next logical step for molecular pathology laboratories, the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging. We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications.

  1. Diagnostic accuracy of behavioral, activity, ferritin, and clinical indicators of restless legs syndrome.

    Science.gov (United States)

    Richards, Kathy C; Bost, James E; Rogers, Valerie E; Hutchison, Lisa C; Beck, Cornelia K; Bliwise, Donald L; Kovach, Christine R; Cuellar, Norma; Allen, Richard P

    2015-03-01

    Lack of a valid diagnostic measure of restless legs syndrome (RLS) for persons with dementia, who do not have the cognitive ability to report complex symptoms, impedes RLS treatment and research in this population. The aim of this study was to determine the sensitivity and specificity of a combination of indicators for identifying RLS that could eventually be used to diagnose RLS in persons with dementia. 3-day, prospective instrument validation. Sleep laboratory. Cognitively intact, 107 with RLS, 105 without RLS. N/A. Serial 20-min observations with a new measure, the Behavioral Indicators Test-Restless Legs (BIT-RL); leg movements with 3 nights of the Periodic Activity Monitor-Restless Legs (PAM-RL); ferritin; sleep history; clinical data; polysomnography; Hopkins Telephone Diagnostic Interview of RLS Symptoms. The best-fitting diagnostic model for identifying RLS included previous history of iron deficiency (odds ratio [OR] 7.30), leg discomfort (OR 6.47), daytime fatigue (OR 6.15), difficulty falling asleep (OR 3.25), RLS family history (OR 2.60), BIT-RL (OR 1.49), and absence of diabetes (OR 0.27), with sensitivity 78%, specificity 79%, and 77% correctly classified. This model retained its predictive accuracy even with co-morbid sleep apnea. When compared to those without RLS, persons with RLS have observable behaviors, such as rubbing the legs, that differentiate them, but the behaviors have no circadian and activity-related variability. The final model of clinical and sleep historical data and observation for RLS behaviors using the BIT-RL had good diagnostic accuracy. © 2015 Associated Professional Sleep Societies, LLC.

  2. Clinical classification in low back pain: best-evidence diagnostic rules based on systematic reviews

    DEFF Research Database (Denmark)

    Petersen, Tom; Laslett, Mark; Juhl, Carsten Bogh

    2017-01-01

    -anatomical disorders in the lumbar spine; i.e. intervertebral discs, sacroiliac joints, facet joints, bone, muscles, nerve roots, muscles, peripheral nerve tissue, and central nervous system sensitization. Methods A sensitive electronic search strategy using MEDLINE, EMBASE and CINAHL databases was combined with hand...... searching and citation tracking to identify eligible studies. Criteria for inclusion were: persons with low back pain with or without related leg symptoms, history or physical examination findings suitable for use in primary care, comparison with acceptable reference standards, and statistical reporting...... involvement, and spinal stenosis. Single clinical test appear not to be as useful as clusters of tests that are more closely in line with clinical decision making. Conclusions This is the first comprehensive systematic review of diagnostic accuracy studies that evaluate clinical examination findings...

  3. Clinical prediction model to aid emergency doctors managing febrile children at risk of serious bacterial infections: Diagnostic study

    NARCIS (Netherlands)

    R.G. Nijman (Ruud); Y. Vergouwe (Yvonne); M.J. Thompson (Matthew); M.V. Veen (Mirjam Van); A.H.J. van Meurs (Alfred); J. van der Lei (Johan); E.W. Steyerberg (Ewout); H.A. Moll (Henriëtte); R. Oostenbrink (Rianne)

    2013-01-01

    textabstractObjective: To derive, cross validate, and externally validate a clinical prediction model that assesses the risks of different serious bacterial infections in children with fever at the emergency department. Design: Prospective observational diagnostic study. Setting: Three paediatric em

  4. Prevalence rates and clinical implications of bipolar disorder "with mixed features" as defined by DSM-5.

    Science.gov (United States)

    Shim, In Hee; Woo, Young Sup; Bahk, Won-Myong

    2015-03-01

    We investigated the increase in the prevalence of bipolar disorder with mixed features following the replacement of DSM-IV-TR criteria with DSM-5 criteria. Additionally, we examined the clinical implications of the use of "with mixed features" as a specifier with bipolar disorder. We retrospectively reviewed medical charts from 2003 to 2013. A total of 331 patients diagnosed with bipolar disorder using the DSM-IV TR were enrolled and categorized into four groups: manic/hypomanic with mixed features, manic/hypomanic without mixed features, depressed with mixed features, and depressed without mixed features. These classifications were made in accordance with the DSM-5 definition of bipolar disorder "with mixed features." Changes in the prevalence, demographic and clinical characteristics were compared among the groups. The prevalence rates of mixed features were significantly different when using the DSM-5 criteria vs. the DSM-IV-TR criteria. Patients with mixed features had a younger age of onset, younger age at hospitalization, more frequent hospitalizations for mixed episodes, and greater suicide risk compared with patients without mixed features. Retrospective study may have resulted in under diagnosis of mixed states. An approximately three-fold greater risk for mixed features was observed in patients with bipolar disorder when using the DSM-5 criteria than when using the DSM-IV-TR criteria. The additional patients may represent patients with sub-syndromal mixed features and could indicate that patients with mixed features are underdiagnosed. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. MODERN APPROACHES TO CLINICAL AND LABORATORY DIAGNOSTICS OF RHEUMATOID ARTHRITIS EARLY ONSET

    Directory of Open Access Journals (Sweden)

    D. G. Rekalov

    2013-10-01

    Full Text Available Rheumatoid arthritis (RA leads not only to a rapid development of disability, but can influence the life of these patients. One-third of patients with rheumatoid arthritis may have signs of disability during the first 3 years of the onset of the disease, while mortality in patients with RA almost two times higher in comparison with the general population. Analysis of recent prospective studies on the progression of the pathological process and predicting of the long-term outcomes in RA clearly indicate the need for clinical evaluation and a comprehensive laboratory and instrumental diagnosis of the disease in the initial manifestations of the most followed by early adequate pathogenetic therapy. The purpose of this survey was to determine modern clinical aspects of diagnosis, the possibility of standard and specialized instrumental examinations in patients with eRA, followed by predicting long-term results. We studied 52 specialized publications on clinical classification and a modern laboratory and diagnostic tests for eRA. This review presents the data of the importance of differentiation of several stages of RA in relation to the time factor. The data on the sensitivity and specificity of the diagnostic classification and clinical criteria of eRA and an algorithm for the identification of the disease were presented. It was shown prognostic value of the main serological markers of RA, and the predictive value for early detection of antibodies to the circulating peptide as a marker of the severity of bone-destructive changes in patients with certain clinical manifestations. Antibodies to the circulating peptide (ACPA can be detected many years before the onset of RA. Study of anti-citrulline mutated vimentin (anti-MCV in patients with eRA can be applied as a marker of activity of the process and the subsequent possibility of use for predicting long-term results. This review presents the major diagnostic errors using standard instrumental

  6. Prediction of 6-yr symptom course trajectories of anxiety disorders by diagnostic, clinical and psychological variables.

    Science.gov (United States)

    Spinhoven, Philip; Batelaan, Neeltje; Rhebergen, Didi; van Balkom, Anton; Schoevers, Robert; Penninx, Brenda W

    2016-12-01

    This study aimed to identify course trajectories of anxiety disorder using a data-driven method and to determine the incremental predictive value of clinical and psychological variables over and above diagnostic categories. 703 patients with DSM-IV panic disorder with or without agoraphobia, agoraphobia, social phobia, or generalized anxiety disorder were selected from a prospective cohort study. Latent Growth Mixture Modeling was conducted, based on symptoms of anxiety and avoidance as assessed with the Life Chart Interview covering a 6-year time period. In 44% of the participants symptoms of anxiety and avoidance improved, in 24% remained stable, in 25% slightly increased, and in 7% severely increased. Identified course trajectories were predicted by baseline DSM-IV anxiety categories, clinical variables (i.e., severity and duration and level of disability) and psychological predictors (i.e., neuroticism, extraversion, anxiety sensitivity, worry, and rumination). Clinical variables better predicted unfavorable course trajectories than psychological predictors, over and above diagnostic categories. Copyright © 2016 Elsevier Ltd. All rights reserved.

  7. Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

    OpenAIRE

    C Alexander Valencia; Ammar eHusami; Jennifer eHolle; Johnson, Judith A; Yaping eQian; Abhinav eMathur; Chao eWei; Subba Rao Indugula; Fanggeng eZou; Haiying eMeng; Lijun eWang; Xia eLi; Rachel eFisher; Tony eTan; Amber eHogart Begtrup

    2015-01-01

    Background There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES. Objective We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered. Moreover, we examined the potential cos...

  8. Gilbert’s syndrome: clinical features, diagnostics, differential diagnosis and treatment (part 2

    Directory of Open Access Journals (Sweden)

    T.V. Sorokman

    2017-03-01

    Full Text Available We searched for published and unpublished research using PubMed as the search engine by the keywords: “Gilbert’s syndrome”, “clinical manifestation”, “diagnosis”, “treatment”, taking into consideration studies conducted in the last 10 years, citation review of relevant primary and review articles, conference abstracts, personal files, and contact with expert informants. The criterion for the selection of articles for the study was based on their close relevance to the topic, thus, out of 75 analyzed articles, the findings of the researches covered in 28 articles were crucial. Clinical manifestations of Gilbert’s syndrome (GS are possible both in homozygous for UGT1A1, and in heterozygous status. A latent variant of the disease prevails in individuals with heterozygous status. Up to 30 % of homozygous for the defective gene of GS individuals have an asymptomatic course of the disease. Clinical types of GS: dyspeptic — 43.2 %, asthenovegetative — 15.9 %, icteric — 14.8 % and asymptomatic — 26.1 %. Dietary deviations, mental fatigue, stress, trauma, acute infections, including hepatitis, certain medications intake are the triggers for GS. In 86.4 % of children with GS, the pathology of the upper digestive tract was detected: duodenitis — in 58 % of cases, gastritis — in 56.8 %, esophagitis — in 12.5 %, duodenal ulcer — in 2.3 %, in 39.7 % of patients sphincter disorders were registered (duodenogastric and gastroesophageal bile reflux. The GS is characterized by reduced detoxification function of the liver, in particular in 2/3 of patients decreased hepatocyte metabolic activity was observed, the excretory function of liver cell suffers in another half of patients, the biliary tract disorders and increased risk of gallstones formation are described in 88 % of cases. Some patients with GS have certain psychological disorders, including anxiety. Diagnostic criteria for GS: 1. A peculiar pale yellowish

  9. Clinical and research diagnostic criteria for developmental coordination disorder: a review and discussion.

    Science.gov (United States)

    Gueze, R H; Jongmans, M J; Schoemaker, M M; Smits-Engelsman, B C

    2001-03-01

    The aim of this review was to investigate the selection criteria used in the past in studies of children with developmental motor problems (excluding those suffering from neurological dysfunctions such as cerebral palsy, muscular dystrophy, etc.). We therefore conducted an extensive analysis of 176 publications. First, an overview of the main characteristics of these studies (terminology, population, type and purpose) and the selection criteria that are reported in these publications are presented. Following this, the DSM-IV selection criteria for developmental coordination disorder (DCD) are contrasted with the selection criteria reported in 41 publications that have used this terminology to classify the children. The results of this comparison show that the inclusion criteria are largely followed, albeit with little consistency concerning selection instruments and quantitative cut-offs, while adherence to the exclusion criteria is not common practice. Strengths and weaknesses of the DSM-IV criteria, complementary to the previous discussion by Henderson and Barnett in the HMS special issue on DCD in 1998 on this same topic, are discussed. The results of the review also show that many studies have used additional selection criteria related to the specific research questions of the study concerned. In the broader context of clinical practice as well as basic research, the latter result suggests the usefulness of a distinction between Clinical Diagnostic Criteria and Research Diagnostic Criteria. This distinction helps to develop a unifying view on the use of diagnostic criteria for research and clinical practice. We conclude with a number of recommendations concerning the selection criteria for children with DCD.

  10. Elevated Serum IgG4 Defines Specific Clinical Phenotype of Rheumatoid Arthritis

    Directory of Open Access Journals (Sweden)

    Le-Feng Chen

    2014-01-01

    Full Text Available Objectives. To explore the correlation of serum IgG4 (sIgG4 with clinical manifestations or therapeutic response in rheumatoid arthritis (RA. Methods. Consecutive 136 RA patients were recruited and followed up at regular interval. SIgG4 was detected by immunonephelometry. Serial synovial tissue sections from 46 RA patients were stained immunohistochemically for IgG4. Results. Forty-six percent of 136 RA patients had elevated sIgG4. Patients with elevated sIgG4 had higher sIgG4/sIgG ratio, C-reactive protein, erythrocyte sedimentation rate, rheumatoid factor, and anticyclic citrullinated peptide antibodies than those with normal sIgG4 (all P<0.05. Among 45 patients who received methotrexate and leflunomide therapy, 50% (9/18 of patients with elevated sIgG4 and 85% (23/27 of patients with normal sIgG4 reached therapeutic target (disease activity score of 28 joints < 3.2 at 6-month visit (χ2=6.508, P=0.011. IgG4-positive plasma cell count correlated positively with sIgG4, total synovitis score, and CD3-, CD20-, and CD38-positive cell counts (all P<0.05. Conclusions. Our results showed that elevated sIgG4 in RA is common and disproportional to total IgG and RA with elevated sIgG4 may be a specific clinical phenotype with higher disease activity, higher level of autoantibodies, and poor response to methotrexate and leflunomide therapy.

  11. Transcriptomics in cancer diagnostics: developments in technology, clinical research and commercialization.

    Science.gov (United States)

    Sager, Monica; Yeat, Nai Chien; Pajaro-Van der Stadt, Stefan; Lin, Charlotte; Ren, Qiuyin; Lin, Jimmy

    2015-01-01

    Transcriptomic technologies are evolving to diagnose cancer earlier and more accurately to provide greater predictive and prognostic utility to oncologists and patients. Digital techniques such as RNA sequencing are replacing still-imaging techniques to provide more detailed analysis of the transcriptome and aberrant expression that causes oncogenesis, while companion diagnostics are developing to determine the likely effectiveness of targeted treatments. This article examines recent advancements in molecular profiling research and technology as applied to cancer diagnosis, clinical applications and predictions for the future of personalized medicine in oncology.

  12. [The challenges of standardization in clinical diagnostic laboratories of medical organizations].

    Science.gov (United States)

    Men'shikov, V V

    2013-04-01

    The generalized data concerning the conditions of application of regulations of national standards in clinical diagnostic laboratories of medical organizations is presented. The primary information was provided by 14 regions of 6 federal administrative okrugs of Russia. The causes of challenges of application of requirements of standards are presented. They are mostly related with insufficient financial support, lacking of manpower, difficulties with reagents supply, inadequate technical maintenance of devices and absence of support of administration of medical organizations. The recommendations are formulated concerning the necessity of publishing the document of Minzdrav of Russia to determine the need in application of standards in laboratory practice.

  13. Malignant otitis externa: Variability of clinical course and difficulties of diagnostics

    Directory of Open Access Journals (Sweden)

    Janićijević Miloš

    2014-01-01

    Full Text Available This paper shows the case of a 70-year-old diabetic patient who was admitted to the ORL and MFS clinic as an emergency case with the right ear otalgia, in the right mastoid extension, facialis paralysis and the right ear suppuration all of which lasted for a month before the hospitalization. On admission, the initial diagnostics stated canal skin edema of the external hearing canal which made the eardrum impossible to visualize. Granulations at the bottom of the canal were visible. During the admission, the patient was submitted to conservative and surgical treatments which confirmed that it was the case of malignant otitis externa.

  14. Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region

    Directory of Open Access Journals (Sweden)

    Nurgul Ceran

    2011-02-01

    Full Text Available Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83% and fever (44%. All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations.

  15. Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region

    Directory of Open Access Journals (Sweden)

    Nurgul Ceran

    Full Text Available Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83% and fever (44%. All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations.

  16. Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region.

    Science.gov (United States)

    Ceran, Nurgul; Turkoglu, Recai; Erdem, Ilknur; Inan, Asuman; Engin, Derya; Tireli, Hulya; Goktas, Pasa

    2011-01-01

    Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83%) and fever (44%). All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months) was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations.

  17. Principles of dispensary observation of patients with Parkinson's disease in a specialized clinical diagnostic room

    Directory of Open Access Journals (Sweden)

    Krivonos О.V.

    2013-12-01

    Full Text Available Aim: to develop and implement of the order of the dispensary observation of Parkinson's disease patients. Material and methods, the dispensary observation of Parkinson's disease patients had been performed by neurologist and diagnostic room (CDR based on the outpatient department of health care institutions obeyed by FMBA of Russia in six Closed Administrative-Territorial Units: Seversk, Zarechniy, Ozersk, Lesnoy, Sarov and Zheleznogorsk. Neurologist examined of patients and put data to the Register's database. Register's database had 588 Parkinson's disease examined patients, 112 of them (19,1% had stage II of the disease by Hoehn and Yahr, 231 (39,3% patients — stage III by Hoehn and Yahr, 187 (31,8% patients — stage IV byHoehn and Yahr, 58 (9,9% patients — stage V by Hoehn and Yahr. The duration of the dispensary observation of Parkinson's disease patients was 4 years (2009-2012. Results. There are and implement the order of the observed and accounting of adult's group of Parkinson's disease patients were developed, who are registered in the clinical and diagnostic rooms, including the frequency of physician's visits, the list of diagnostic and treatment activities and efficiency endpoint of the dispensary observation. Conclusion. Implementation of the order of the dispensary observation according to the Register allowed to identify the main disabling PD's symptoms (depression, dementia, motor fluctuations and dyskinesia and timely correction of therapy.

  18. Axial Disease in Psoriatic Arthritis study: defining the clinical and radiographic phenotype of psoriatic spondyloarthritis.

    Science.gov (United States)

    Jadon, Deepak R; Sengupta, Raj; Nightingale, Alison; Lindsay, Mark; Korendowych, Eleanor; Robinson, Graham; Jobling, Amelia; Shaddick, Gavin; Bi, Jing; Winchester, Robert; Giles, Jon T; McHugh, Neil J

    2017-04-01

    To compare the prevalence, clinical and radiographic characteristics of psoriatic spondyloarthritis (PsSpA) in psoriatic arthritis (PsA), with ankylosing spondylitis (AS). A prospective single-centre cross-sectional observational study recruited consecutive PsA and AS cases. Participants completed outcome measures, and underwent clinical examination, axial radiographic scoring and HLA-sequencing. Multivariable analyses are presented. The 402 enrolled cases (201 PsA, 201 AS; fulfilling classification criteria for respective conditions) were reclassified based upon radiographic axial disease and psoriasis, as: 118 PsSpA, 127 peripheral-only PsA (pPsA), and 157 AS without psoriasis (AS) cases. A significant proportion of patients with radiographic axial disease had PsSpA (118/275; 42.91%), and often had symptomatically silent axial disease (30/118; 25.42%). Modified New York criteria for AS were fulfilled by 48/201 (23.88%) PsA cases, and Classification of Psoriatic Arthritis criteria by 49/201 (24.38%) AS cases. pPsA compared with PsSpA cases had a lower frequency of HLA-B*27 (OR 0.12; 95% CI 0.05 to 0.25). Disease activity, metrology and disability were comparable in PsSpA and AS. A significant proportion of PsSpA cases had spondylitis without sacroiliitis (39/118; 33.05%); they less frequently carried HLA-B*27 (OR 0.11; 95% CI 0.04 to 0.33). Sacroiliac joint complete ankylosis (adjusted OR, ORadj 2.96; 95% CI 1.42 to 6.15) and bridging syndesmophytes (ORadj 2.78; 95% CI 1.49 to 5.18) were more likely in AS than PsSpA. Radiographic axial disease was more severe in AS than PsSpA (Psoriatic Arthritis Spondylitis Radiology Index Score: adjusted incidence risk ratio 1.13; 95% CI 1.09 to 1.19). In a combined cohort of patients with either PsA or AS from a single centre, 24% fulfilled classification criteria for both conditions. The pattern of axial disease was influenced significantly by the presence of skin psoriasis and HLA-B*27. Published by the BMJ Publishing Group

  19. Pathophysiological mechanisms of acute pancreatitis define inflammatory markers of clinical prognosis.

    Science.gov (United States)

    Minkov, Georgi A; Halacheva, Krasimira S; Yovtchev, Yovcho P; Gulubova, Maya V

    2015-07-01

    Development of acute pancreatitis illustrates the need to understand the basic mechanisms of disease progression to drive the exploration of therapeutic options. Cytokines play a major role in the pathogenesis of acute pancreatitis as underlying systemic inflammatory response, tissue damage, and organ dysfunction. However, little is known about circulating concentrations of these inflammatory markers and their real impact on clinical practice. Experimental studies have suggested that the prognosis for acute pancreatitis depends on the degree of pancreatic necrosis and the intensity of multisystem organ failure generated by the systemic inflammatory response. This suggests an intricate balance between localized tissue damage with proinflammatory cytokine production and a systemic anti-inflammatory response that restricts the inappropriate movement of proinflammatory agents into the circulation. Implication of such mediators suggests that interruption or blunting of an inappropriate immune response has the potential to improve outcome. A detailed understanding of pathophysiological processes and immunological aspects in patients with acute pancreatitis is the basis for the development of therapeutic strategies that will provide significant reductions in morbidity and mortality.

  20. MO-C-BRB-06: Translating NIH / NIBIB funding to clinical reality in quantitative diagnostic imaging

    Energy Technology Data Exchange (ETDEWEB)

    Jackson, E. [University of Wisconsin (United States)

    2015-06-15

    Diagnostic radiology and radiation oncology are arguably two of the most technologically advanced specialties in medicine. The imaging and radiation medicine technologies in clinical use today have been continuously improved through new advances made in the commercial and academic research arenas. This symposium explores the translational path from research through clinical implementation. Dr. Pettigrew will start this discussion by sharing his perspectives as director of the National Institute of Biomedical Imaging and Bioengineering (NIBIB). The NIBIB has focused on promoting research that is technological in nature and has high clinical impact. We are in the age of precision medicine, and the technological innovations and quantitative tools developed by engineers and physicists working with physicians are providing innovative tools that increase precision and improve outcomes in health care. NIBIB funded grants lead to a very high patenting rate (per grant dollar), and these patents have higher citation rates by other patents, suggesting greater clinical impact, as well. Two examples of clinical translation resulting from NIH-funded research will be presented, in radiation therapy and diagnostic imaging. Dr. Yu will describe a stereotactic radiotherapy device developed in his laboratory that is designed for treating breast cancer with the patient in the prone position. It uses 36 rotating Cobalt-60 sources positioned in an annular geometry to focus the radiation beam at the system’s isocenter. The radiation dose is delivered throughout the target volume in the breast by constantly moving the patient in a planned trajectory relative to the fixed isocenter. With this technique, the focal spot dynamically paints the dose distribution throughout the target volume in three dimensions. Dr. Jackson will conclude this symposium by describing the RSNA Quantitative Imaging Biomarkers Alliance (QIBA), which is funded in part by NIBIB and is a synergistic collaboration

  1. Non invasive radiofrequency diagnostics of cancer. The Bioscanner — Trimprob technology and clinical applications

    Science.gov (United States)

    Vedruccio, Clarbruno; Ricci Vedruccio, Carla

    2011-12-01

    A new paper by Pokorny, Vedruccio, Cifra, Kucera, titled Cancer physics: Diagnostics based on damped cellular elasto-electrical vibrations in microtubules, recently available on Eur. Biophys. J., discloses the mechanism of active grown cancer tissues interaction with a Non- Linear Resonance Interaction (NLRI) Bioscanner Trimprob diagnostic device that is certified and ready to be used to investigate suspected cases of disease and cancer. This technology spreads early capabilities of cancer detection by means of low level radiofrequency oscillations in UHF band. The system is based on an unique and extremely innovative non- linear radiofrequency oscillator working on 462-465 MHz plus the harmonics. The diseased tissues suspected of cancer, are irradiated by means of a handy probe near field emission, while a spectrum analyzer placed in the far field detects by means of a small antenna, the oscillator interaction within the tissues. The Bioscanner is characterized by a high dynamic range, in the order of 30 or more decibel, and is useful for detection of small cancer agglomerates, if used by a well trained operator. At the resonance, the free running oscillator locks-in on the specific interaction frequency, in a sharp frequency window centered on 462 MHz; the resulting effect is evidenced by a deep decrease of the 462 MHz spectral line propagation in the far field around the oscillator probe. The NLRI provides a selective characterization, like a sort of a electronic biopsy response of biologic tissues in support of modern imaging diagnostics. Further to existing literature describing methods for cancer detections by means of electromagnetic fields this paper shows this innovative in vivo medical diagnostic equipment and some clinical applications.

  2. The medical folder as an active tool in defining the clinical decision-making process.

    Science.gov (United States)

    Ferri, F

    1995-01-01

    Whenever the user of a consultation system needs to know a large amount of information items that are possibly inter-related, a system that is able to cooperate with the user can simplify the interaction and increase its speed. In fact, these systems can recognize the goals of the user, individuate the information related to his goals, and finally focus their attention on this information [1]. This paper describes research work on the design and creation of a medical folder management system capable of establishing cooperative dialogue with users who have access to the information contained therein. Particular attention has thus been paid to the problems of man-computer dialogue and user models. The research work has addressed the problem of integrating into the system knowledge about the medical domain and users (physicians are only used for the time being), which are both necessary to activate a cooperative dialogue. After analysing the literature on the problems of user models, this paper presents and formalizes a study performed at the IVth Surgical Clinic of the Rome University Umberto I General Hospital to identify and represent how, when, and with what goals the physician consults the medical folder, as well as the dialogue procedures he normally adopts. The paper also illustrates important characteristics of the CADMIO prototype, which has been developed since the study was made. CADMIO stores information about users for use in recognizing and interpreting their behaviour, providing help, and in acquiring and returning further information. Whilst always bearing in mind the physician's pre-established goals, it structures information to facilitate his consultation activity, offering him options for the retrieval of further information semantically linked to that already obtained.

  3. Are CSF Biomarkers Useful as Prognostic Indicators in Diagnostically Unresolved Cognitively Impaired Patients in a Normal Clinical Setting

    DEFF Research Database (Denmark)

    Nielsen, Malene Schjønning; Simonsen, Anja Hviid; Siersma, Volkert

    2016-01-01

    in diagnostically unresolved patients. METHODS: Data on 348 patients were retrospectively evaluated. All participants had a standardized diagnostic workup and follow-up in a memory clinic. RESULTS: Aβ42 levels and Aβ42/p-tau ratios were reduced and levels of t-tau and p-tau as well as the t-tau × p-tau/Aβ42 ratio......BACKGROUND: Despite an extensive evaluation program, patients may remain diagnostically unresolved with regard to the etiology of their cognitive dysfunction. Cerebrospinal fluid neuroinflammation and Alzheimer disease (AD) biomarkers may act as indicators of neurodegenerative disorders...... were elevated in diagnostically unresolved patients who clinically progressed, compared to a stable group. No differences in neuroinflammatory parameters were found. CONCLUSION: AD biomarkers - in particular the Aβ42/p-tau ratio, but not neuroinflammatory parameters - predicted clinical progression...

  4. Diagnostic accuracy of clinical symptoms and rapid diagnostic test in group A streptococcal perianal infections in children.

    Science.gov (United States)

    Cohen, Robert; Levy, Corinne; Bonacorsi, Stéphane; Wollner, Alain; Koskas, Marc; Jung, Camille; Béchet, Stéphane; Chalumeau, Martin; Cohen, Jérémie; Bidet, Philippe

    2015-01-15

    From 2009 to 2014, we prospectively enrolled 132 children with perianal infections. The presentation of painful defecation, anal fissures, and macroscopic blood in stools was highly suggestive of group A streptococcal perianal infection (probability 83.3%). We found a high sensitivity of a group A streptococcal rapid diagnostic testing (98%) but relatively low specificity (72.8%).

  5. Pulmonary hypertension. Radiological diagnostics in the clinical context; Pulmonale Hypertonie. Radiologische Diagnostik im klinischen Kontext

    Energy Technology Data Exchange (ETDEWEB)

    Ley, Sebastian [Toronto General Hospital, Toronto, ON (Canada). Dept. of Medical Imaging

    2012-06-15

    Pulmonary hypertension (PH) has a broad differential and the radiological task is to define and characterize the pathophysiological background. The first part of the review is focused on the clinical categorization and specific features of the various groups of PH. Overall, PH is a rare disease and the clinical symptoms are non specific. Therefore, the disease is usually detected delayed. Each radiological technique, especially chest X-ray and CT, do show specific findings suggestive of PH, which will be discussed. Verification of the severity of PH is still a domain of invasive right heart catheterization. However, there are promising approaches using MRI to determine the pulmonary arterial pressure non-invasively. (orig.)

  6. Hereditary neuropathies: systematization and diagnostics (clinical case of hereditary motor and sensor neuropathy of the IA type

    Directory of Open Access Journals (Sweden)

    Kolokolova A.M.

    2016-09-01

    Full Text Available Aim: to study the value of routine methods (clinical symptoms, electrophysiological findings and results of DNA analysis in diagnostics of hereditary motor sensory neuropathy type IA in outpatient clinics. Material and Methods. The review of foreign literature is represented. The phenotypic polymorphism, genetic heterogeneity and the difficulties of diagnostics are identified. A family with hereditary motor sensory neuropathy of lAtype is presented, which was diagnosed on the base of available methods in outpatient practice (clinical symptoms, genealogical method, electro-physiological findings and DNA analysis results. Results. Routine algorithm (consistent valuation of clinical symptoms, neurophysiologic findings and the results of DNA analysis helped to verify the diagnosis of hereditary motor sensory neuropathy of lAtype in outpatient practice after more than 20 years of the onset of the disease. Conclusion. The neurologists of outpatient clinics and other specialists must be informed about the availability of diagnostics of hereditary diseases of nervous system.

  7. Clinical experience with a circumferential clip-based vascular closure device in diagnostic catheterization.

    Science.gov (United States)

    Hermiller, James; Simonton, Charles; Hinohara, Tom; Lee, Daniel; Cannon, Louis; Mooney, Michael; O'Shaughnessy, Charles; Carlson, Harold; Fortuna, Richard; Yarbrough, Carol Anne; Zapien, Michael; Chou, Tony

    2005-10-01

    The StarClose Vascular Closure System (Abbott Vascular Devices, Redwood City, California) utilizes a small, flexible nitinol clip to complete a circumferential, extravascular closure of the femoral arteriotomy site. The StarClose is an investigational device in the United States, limited by Federal law to investigational use. The StarClose is CE Mark approved. The CLIP study was a prospective, randomized, multicenter trial utilizing a noninferiority design to compare the rate of major vascular complications and time-to-hemostasis using the StarClose system versus manual compression. A total of 596 subjects were enrolled, 208 of whom underwent diagnostic angiography. This diagnostic subset is the focus of this report. The primary safety endpoint was major vascular complications and the primary efficacy endpoint was time-to-hemostasis. All patients were followed at 30 days with a clinical exam. Subjects were randomized 2:1 to the StarClose (n = 136) or manual compression (n = 72). There were no major vascular complications in either group. Minor vascular complications occurred in 3 StarClose patients (2.2%), and 1 manual compression patient (1.4%) (p = 1.00). Use of the StarClose device reduced mean time-to-hemostasis from 15.47 +/- 11.4 to 1.46 +/- 4.5 minutes (p manual compression, and reduced the average time-to-ambulation from 269 +/- 135 to 163 +/- 105 minutes (p < or = 0.001). Device success was 94.1% (127/135), and procedural success was 100% (136/136). The clinical results of this study concluded that the StarClose Vascular Closure System is noninferior to standard compression with respect to the the primary safety endpoint of closing arteriotomies in patients who undergo percutaneous diagnostic procedures.

  8. Adult Attention Deficit Hyperactivity Disorder: Neurobiology, Diagnostic Problems and Clinical Features

    Directory of Open Access Journals (Sweden)

    Cengiz Tuglu

    2010-04-01

    Full Text Available Attention-deficit/hyperactivity disorder (ADHD is a chronic, lifelong neurobeha-vioral disorder with childhood-onset, which seriously impairs the affected adults in a variety of daily living functions like academic, social and occupational functioning. Prevalence of ADHD declines with age in the general population. The approximate prevalence rates of ADHD is 8% in childhood, 6% in adolescence and 4% in adulthood. The unclear validity of DSM-IV diagnostic criteria for this condition can lead to reduced prevalence rates by underestimation of the prevalence of adult ADHD. The disorder is characterized by behavioral symptoms of inattention, hyperactivity, and impulsivity across the life cycle and is associated with considerable morbidity and disability. Although its etiology remains unclear, considerable evidence documents its strong neurobiological and genetic underpinnings. ADHD is associated with a high percentage of comorbid psychiatric disorders in every lifespan. In adulthood between 65-89% of all patients with ADHD suffer from one or more additional psychiatric disorders, above all mood and anxiety disorders, substance use disorders and personality disorders, which complicate the clinical picture in terms of diagnostics, treatment and outcome issues. The high comorbidity with other psychiatric disorders, the resulting deficits in social competences and risky health behavior that often go along with a diminished life quality must be stressed in these patients. Preventive and therapeutic interventions should be taken at an early stage to counteract the possible negative influences of ADHD on functioning and relationships. In this paper, we reviewed the historical aspects, epidemiology, neurobiology, comorbidity, diagnostic difficulties and clinical features of adult ADHD.

  9. Low back pain in school-age children: risk factors, clinical features and diagnostic managment.

    Science.gov (United States)

    Boćkowski, L; Sobaniec, W; Kułak, W; Smigielska-Kuzia, J; Sendrowski, K; Roszkowska, M

    2007-01-01

    Low back pain (LBP) is common in adult population, and it is becoming a serious health concern in adolescents. On surveys, about every fifth child in the school-age reports LBP. The study objective was to analysis the natural history, risk factors, clinical symptoms, causes and diagnostic management in school-age children hospitalized with LBP. The study group consisted of 36 patients at the age between 10 and 18 years, 22 girls and 14 boys suffering from LBP hospitalized in our Department of Pediatric Neurology and Rehabilitation in years 2000-2004. The mean age of clinical onset of LBP in our group was 14.7 years, earlier in girls, later in boys. We find the family history of LBP in 50% children. Most frequent factors associated with LBP were: spina bifida (16.7%) and incorrect posture (13.9%). Half of patients pointed the factor initialising LBP: rapid, incoordinated move (39%) or heavy load rise (11%). 58% of patients present the symptoms of ischialgia. Diagnostic imaging showed disc protrusion in 11 children (31%) 6 in computed tomography, 4 in magnetic resonance imaging and 1 in X-Ray examination only. Other causes of LBP included: spondylolysis in 2 patients, Scheuermann disease in one case and juvenile reumatoid arthritis in one case. Some school-age children suffering on low back pain, particulary with sciatic neuralgia symptoms seek medical care in hospital. Althought the main causes are mechanical, associated with lack of physical activity or strenous exercise, serious diagnostic managment is strongly recommended.

  10. Quantum dot nanoparticle for optimization of breast cancer diagnostics and therapy in a clinical setting.

    Science.gov (United States)

    Radenkovic, Dina; Kobayashi, Hisataka; Remsey-Semmelweis, Ernö; Seifalian, Alexander M

    2016-08-01

    Breast cancer is the most common cancer in the world. Sentinel lymph node (SLN) biopsy is used for staging of axillary lymph nodes. Organic dyes and radiocolloid are currently used for SLN mapping, but expose patients to ionizing radiation, are unstable during surgery and cause local tissue damage. Quantum dots (QD) could be used for SLN mapping without the need for biopsy. Surgical resection of the primary tumor is the optimal treatment for early-diagnosed breast cancer, but due to difficulties in defining tumor margins, cancer cells often remain leading to reoccurrences. Functionalized QD could be used for image-guided tumor resection to allow visualization of cancer cells. Near Infrared QD are photostable and have improved deep tissue penetration. Slow elimination of QD raises concerns of potential accumulation. Nevertheless, promising findings with cadmium-free QD in recent in vivo studies and first in-human trial suggest huge potential for cancer diagnostic and therapy.

  11. Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic

    Directory of Open Access Journals (Sweden)

    Dylan Mordaunt

    2014-05-01

    Full Text Available Autism is an etiologically heterogeneous developmental disorder for which the range of genetic investigations has expanded considerably over the past decade. Introduction of chromosomal microarray (CMA to clinical practice has expanded the range of conditions which pediatricians are able to detect. This study reviewed the utilization, yield and cost of genetic investigations in a sample of children with pervasive developmental disorders (PDD in an Australian metropolitan child development service. Six hundred and ninety eight patients with PDD were identified from the clinic population. One hundred and ten (15.7% of the clinic population had undergone investigation with chromosomal microarray, 140 (20.0% with karyotype (KT, and 167 (23.9% with Fragile X testing (FRGX. Twelve (10.9% CMA findings were reported, of which seven (6.3% were felt to be the likely cause of the child’s clinical features. Five (3.5% KT findings were reported, of which four (2.9% were felt to be the likely cause of the child’s clinical features. Two patients (1.2% were identified with Fragile X expansions. One fifth of the clinic’s recent PDD population had undergone testing with CMA. CMA appears to have increased the diagnostic yield of the genetic investigation of autism, in line with internationally reported levels. Number needed to test (NNT and cost per incremental diagnosis, were also in line with internationally reported levels.

  12. Diagnostic efficacy and therapeutic impact of computed tomography in the evaluation of clinically suspected otosclerosis

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    Dudau, Cristina [King' s College Hospital NHS Foundation Trust, Department of Neuroradiology, London (United Kingdom); Salim, Fakhruddin; Jiang, Dan [Department of Otolaryngology, Head and Neck Surgery, Auditory Implantation Centre, London (United Kingdom); Connor, Steve E.J. [Department of Radiology, Guy' s and St Thomas' NHS Foundation Trust, London (United Kingdom)

    2017-03-15

    To assess the diagnostic efficacy and therapeutic impact of CT in evaluating patients with clinically suspected otosclerosis. CT scans performed over a 5-year period for clinically suspected otosclerosis were retrospectively reviewed. CT diagnoses were correlated with subsequent surgical management. For otosclerosis positive cases, clinically significant extensions of otosclerosis were correlated with audiometry and the diagnosis was correlated with surgical findings. Of 259 CT studies, 46 % of patients were positive, 49 % negative and 5 % equivocal for otosclerosis. A relevant alternative CT diagnosis was evident in 33 % of the negative studies. One targeted surgery was performed for every four CT studies. CT outcome influenced the decision to perform stapedectomy in 41 % CT-positive versus 4 % CT-negative patients. CT-positive ears for otosclerosis could not be predicted from baseline clinical or audiometric criteria. Those with endosteal extension demonstrated lower bone conduction thresholds presurgically. The positive predictive value of CT diagnosis of otosclerosis was 100 %. CT demonstrated a high rate of clinically relevant diagnoses in both CT-positive and -negative for otosclerosis patients, and this frequently influenced surgical management. CT also added value by demonstrating relevant extensions of the otosclerotic foci, some of which were predictive of audiometric parameters. (orig.)

  13. Diagnostic and prognostic accuracy of clinical and laboratory parameters in community-acquired pneumonia

    Directory of Open Access Journals (Sweden)

    Nusbaumer Charly

    2007-03-01

    Full Text Available Abstract Background Community-acquired pneumonia (CAP is the most frequent infection-related cause of death. The reference standard to diagnose CAP is a new infiltrate on chest radiograph in the presence of recently acquired respiratory signs and symptoms. This study aims to evaluate the diagnostic and prognostic accuracy of clinical signs and symptoms and laboratory biomarkers for CAP. Methods 545 patients with suspected lower respiratory tract infection, admitted to the emergency department of a university hospital were included in a pre-planned post-hoc analysis of two controlled intervention trials. Baseline assessment included history, clinical examination, radiography and measurements of procalcitonin (PCT, highly sensitive C-reactive protein (hsCRP and leukocyte count. Results Of the 545 patients, 373 had CAP, 132 other respiratory tract infections, and 40 other final diagnoses. The AUC of a clinical model including standard clinical signs and symptoms (i.e. fever, cough, sputum production, abnormal chest auscultation and dyspnea to diagnose CAP was 0.79 [95% CI, 0.75–0.83]. This AUC was significantly improved by including PCT and hsCRP (0.92 [0.89–0.94]; p Conclusion PCT, and to a lesser degree hsCRP, improve the accuracy of currently recommended approaches for the diagnosis of CAP, thereby complementing clinical signs and symptoms. PCT is useful in the severity assessment of CAP.

  14. Evidence That a Psychopathology Interactome Has Diagnostic Value, Predicting Clinical Needs: An Experience Sampling Study

    Science.gov (United States)

    van Os, Jim; Lataster, Tineke; Delespaul, Philippe; Wichers, Marieke; Myin-Germeys, Inez

    2014-01-01

    Background For the purpose of diagnosis, psychopathology can be represented as categories of mental disorder, symptom dimensions or symptom networks. Also, psychopathology can be assessed at different levels of temporal resolution (monthly episodes, daily fluctuating symptoms, momentary fluctuating mental states). We tested the diagnostic value, in terms of prediction of treatment needs, of the combination of symptom networks and momentary assessment level. Method Fifty-seven patients with a psychotic disorder participated in an ESM study, capturing psychotic experiences, emotions and circumstances at 10 semi-random moments in the flow of daily life over a period of 6 days. Symptoms were assessed by interview with the Positive and Negative Syndrome Scale (PANSS); treatment needs were assessed using the Camberwell Assessment of Need (CAN). Results Psychotic symptoms assessed with the PANSS (Clinical Psychotic Symptoms) were strongly associated with psychotic experiences assessed with ESM (Momentary Psychotic Experiences). However, the degree to which Momentary Psychotic Experiences manifested as Clinical Psychotic Symptoms was determined by level of momentary negative affect (higher levels increasing probability of Momentary Psychotic Experiences manifesting as Clinical Psychotic Symptoms), momentary positive affect (higher levels decreasing probability of Clinical Psychotic Symptoms), greater persistence of Momentary Psychotic Experiences (persistence predicting increased probability of Clinical Psychotic Symptoms) and momentary environmental stress associated with events and activities (higher levels increasing probability of Clinical Psychotic Symptoms). Similarly, the degree to which momentary visual or auditory hallucinations manifested as Clinical Psychotic Symptoms was strongly contingent on the level of accompanying momentary paranoid delusional ideation. Momentary Psychotic Experiences were associated with CAN unmet treatment needs, over and above PANSS

  15. Clinical neurophysiology of prolonged disorders of consciousness: From diagnostic stimulation to therapeutic neuromodulation.

    Science.gov (United States)

    Ragazzoni, Aldo; Cincotta, Massimo; Giovannelli, Fabio; Cruse, Damian; Young, G Bryan; Miniussi, Carlo; Rossi, Simone

    2017-09-01

    The identification of signs of awareness in patients with prolonged disorders of consciousness (DoC) after severe brain injury is a challenging task for clinicians. Differentiating on behavioural examination the vegetative state (VS) from the minimally conscious state (MCS) can lead to a high misdiagnosis rate. Advanced neuroimaging and neurophysiological techniques can supplement clinical evaluation by providing physiological evidence of brain activity. However, an open issue remains whether these empirical results are directly or indirectly associated with covert consciousness and limitations emerge for their diagnostic application at the single-patient level. On the therapeutic side, the efficacy of both non-invasive and invasive brain stimulation/modulation trials is matter of debate. The present review provides an updated analysis of the diagnostic and prognostic impact that the different neurophysiological techniques of stimulation [including short-latency evoked potentials, long-latency event related potentials (ERPs), transcranial magnetic stimulation (TMS), TMS-EEG co-registration] offer in prolonged DoC. The results of the therapeutic stimulation techniques are also evaluated. It is concluded that TMS-EEG emerges as the most promising tool for differentiating VS from MCS whereas ERPs allow neurophysiologists to probe covert cognitive capacities of each patient. Significant behavioural improvements in prolonged DoC with brain stimulation techniques are still anecdotical and further treatment options are awaited. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  16. Update on oral Chagas disease outbreaks in Venezuela: epidemiological, clinical and diagnostic approaches.

    Science.gov (United States)

    Noya, Belkisyolé Alarcón de; Díaz-Bello, Zoraida; Colmenares, Cecilia; Ruiz-Guevara, Raiza; Mauriello, Luciano; Muñoz-Calderón, Arturo; Noya, Oscar

    2015-05-01

    Orally transmitted Chagas disease has become a matter of concern due to outbreaks reported in four Latin American countries. Although several mechanisms for orally transmitted Chagas disease transmission have been proposed, food and beverages contaminated with whole infected triatomines or their faeces, which contain metacyclic trypomastigotes of Trypanosoma cruzi, seems to be the primary vehicle. In 2007, the first recognised outbreak of orally transmitted Chagas disease occurred in Venezuela and largest recorded outbreak at that time. Since then, 10 outbreaks (four in Caracas) with 249 cases (73.5% children) and 4% mortality have occurred. The absence of contact with the vector and of traditional cutaneous and Romana's signs, together with a florid spectrum of clinical manifestations during the acute phase, confuse the diagnosis of orally transmitted Chagas disease with other infectious diseases. The simultaneous detection of IgG and IgM by ELISA and the search for parasites in all individuals at risk have been valuable diagnostic tools for detecting acute cases. Follow-up studies regarding the microepidemics primarily affecting children has resulted in 70% infection persistence six years after anti-parasitic treatment. Panstrongylus geniculatus has been the incriminating vector in most cases. As a food-borne disease, this entity requires epidemiological, clinical, diagnostic and therapeutic approaches that differ from those approaches used for traditional direct or cutaneous vector transmission.

  17. Update on oral Chagas disease outbreaks in Venezuela: epidemiological, clinical and diagnostic approaches

    Directory of Open Access Journals (Sweden)

    Belkisyolé Alarcón de Noya

    2015-05-01

    Full Text Available Orally transmitted Chagas disease has become a matter of concern due to outbreaks reported in four Latin American countries. Although several mechanisms for orally transmitted Chagas disease transmission have been proposed, food and beverages contaminated with whole infected triatomines or their faeces, which contain metacyclic trypomastigotes of Trypanosoma cruzi, seems to be the primary vehicle. In 2007, the first recognised outbreak of orally transmitted Chagas disease occurred in Venezuela and largest recorded outbreak at that time. Since then, 10 outbreaks (four in Caracas with 249 cases (73.5% children and 4% mortality have occurred. The absence of contact with the vector and of traditional cutaneous and Romana’s signs, together with a florid spectrum of clinical manifestations during the acute phase, confuse the diagnosis of orally transmitted Chagas disease with other infectious diseases. The simultaneous detection of IgG and IgM by ELISA and the search for parasites in all individuals at risk have been valuable diagnostic tools for detecting acute cases. Follow-up studies regarding the microepidemics primarily affecting children has resulted in 70% infection persistence six years after anti-parasitic treatment. Panstrongylus geniculatus has been the incriminating vector in most cases. As a food-borne disease, this entity requires epidemiological, clinical, diagnostic and therapeutic approaches that differ from those approaches used for traditional direct or cutaneous vector transmission.

  18. Risks to the fetus from diagnostic imaging during pregnancy: review and proposal of a clinical protocol

    Energy Technology Data Exchange (ETDEWEB)

    Gomes, Mafalda; Matias, Alexandra [University of Porto, Faculty of Medicine, Porto (Portugal); Macedo, Filipe [SMIC, Porto (Portugal)

    2015-12-15

    Every day, medical practitioners face the dilemma of exposing pregnant or possibly pregnant patients to radiation from diagnostic examinations. Both doctors and patients often have questions about the risks of radiation. The most vulnerable period is between the 8th and 15th weeks of gestation. Deterministic effects like pregnancy loss, congenital malformations, growth retardation and neurobehavioral abnormalities have threshold doses above 100-200 mGy. The risk is considered negligible at 50 mGy and in reality no diagnostic examination exceeds this limit. The risk of carcinogenesis is slightly higher than in the general population. Intravenous iodinated contrast is discouraged, except in highly selected patients. Considering all the possible noxious effects of radiation exposure, measures to diminish radiation are essential and affect the fetal outcome. Nonionizing procedures should be considered whenever possible and every radiology center should have its own data analysis on fetal radiation exposure. In this review, we analyze existing literature on fetal risks due to radiation exposure, producing a clinical protocol to guide safe radiation use in a clinical setting. (orig.)

  19. Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges

    Directory of Open Access Journals (Sweden)

    Rajyalakshmi Luthra

    2015-10-01

    Full Text Available The application of next-generation sequencing (NGS to characterize cancer genomes has resulted in the discovery of numerous genetic markers. Consequently, the number of markers that warrant routine screening in molecular diagnostic laboratories, often from limited tumor material, has increased. This increased demand has been difficult to manage by traditional low- and/or medium-throughput sequencing platforms. Massively parallel sequencing capabilities of NGS provide a much-needed alternative for mutation screening in multiple genes with a single low investment of DNA. However, implementation of NGS technologies, most of which are for research use only (RUO, in a diagnostic laboratory, needs extensive validation in order to establish Clinical Laboratory Improvement Amendments (CLIA and College of American Pathologists (CAP-compliant performance characteristics. Here, we have reviewed approaches for validation of NGS technology for routine screening of tumors. We discuss the criteria for selecting gene markers to include in the NGS panel and the deciding factors for selecting target capture approaches and sequencing platforms. We also discuss challenges in result reporting, storage and retrieval of the voluminous sequencing data and the future potential of clinical NGS.

  20. FEATURES OF PATHOGENESIS, CLINICS AND DIAGNOSTICS OF EQUINOPLANOVALGUS IN PATIENTS WITH CEREBRAL PALSY

    Directory of Open Access Journals (Sweden)

    V. V. Umnov

    2013-01-01

    Full Text Available By data of the literature and own supervision, authors describe features pathogenesis of equinoplanovalgus foot deformations (EPVFD in cerebral palsy patients and also the clinical displays of disease revealed by them at inspection of 52 patients (79 foot. In article you can find the earlier not described clinical supervision - presence by a considerable part of patients of the expressed feeling of tiredness feet at walking. This complaint was at 87,0 % patients. Main principles and methods of diagnostics of disease are described, and also a new way is computed tomography scan, allowing to visualize all characteristic for deformation of infringement of anatomy of joints and bones of foot in the conditions of influence modeling on it orthostatic load. Authors come to the conclusion that EPVFD by cerebral palsy children’s possesses a number of prominent features which probably to reveal special receptions and diagnostics methods, and also it is necessary to consider for increase of efficiency of the complex surgical approach to treatment EPVFD at patients with cerebral palsy.

  1. Diagnostic precision of PET imaging and functional MRI in disorders of consciousness: a clinical validation study.

    Science.gov (United States)

    Stender, Johan; Gosseries, Olivia; Bruno, Marie-Aurélie; Charland-Verville, Vanessa; Vanhaudenhuyse, Audrey; Demertzi, Athena; Chatelle, Camille; Thonnard, Marie; Thibaut, Aurore; Heine, Lizette; Soddu, Andrea; Boly, Mélanie; Schnakers, Caroline; Gjedde, Albert; Laureys, Steven

    2014-08-09

    Bedside clinical examinations can have high rates of misdiagnosis of unresponsive wakefulness syndrome (vegetative state) or minimally conscious state. The diagnostic and prognostic usefulness of neuroimaging-based approaches has not been established in a clinical setting. We did a validation study of two neuroimaging-based diagnostic methods: PET imaging and functional MRI (fMRI). For this clinical validation study, we included patients referred to the University Hospital of Liège, Belgium, between January, 2008, and June, 2012, who were diagnosed by our unit with unresponsive wakefulness syndrome, locked-in syndrome, or minimally conscious state with traumatic or non-traumatic causes. We did repeated standardised clinical assessments with the Coma Recovery Scale-Revised (CRS-R), cerebral (18)F-fluorodeoxyglucose (FDG) PET, and fMRI during mental activation tasks. We calculated the diagnostic accuracy of both imaging methods with CRS-R diagnosis as reference. We assessed outcome after 12 months with the Glasgow Outcome Scale-Extended. We included 41 patients with unresponsive wakefulness syndrome, four with locked-in syndrome, and 81 in a minimally conscious state (48=traumatic, 78=non-traumatic; 110=chronic, 16=subacute). (18)F-FDG PET had high sensitivity for identification of patients in a minimally conscious state (93%, 95% CI 85-98) and high congruence (85%, 77-90) with behavioural CRS-R scores. The active fMRI method was less sensitive at diagnosis of a minimally conscious state (45%, 30-61) and had lower overall congruence with behavioural scores (63%, 51-73) than PET imaging. (18)F-FDG PET correctly predicted outcome in 75 of 102 patients (74%, 64-81), and fMRI in 36 of 65 patients (56%, 43-67). 13 of 41 (32%) of the behaviourally unresponsive patients (ie, diagnosed as unresponsive with CRS-R) showed brain activity compatible with (minimal) consciousness (ie, activity associated with consciousness, but diminished compared with fully conscious individuals

  2. Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience.

    Science.gov (United States)

    Hofherr, Sean E; Wiktor, Anne E; Kipp, Benjamin R; Dawson, D Brian; Van Dyke, Daniel L

    2011-11-01

    Approximately 8% of couples attempting to conceive are infertile and male infertility accounts for approximately 50% of infertility among couples. Up to 25% of males with non-obstructive infertility have chromosomal abnormalities and/or microdeletions of the long arm of the Y-chromosome. These are detected by conventional chromosome and Y-microdeletion analysis. In this study, we reviewed the results of testing performed in the Mayo Clinic Cytogenetics and Molecular Genetics Laboratories and compared our findings with previously published reports. This study includes 2,242 chromosome studies from males ≥18 years of age referred for infertility between 1989 and 2000 and 2,749 Y-deletion molecular studies performed between 2002 and 2009. 14.3% of infertile males tested by karyotyping had abnormalities identified. These include: (258) 47,XXY and variants consistent with Klinefelter syndrome, (3) combined 47,XXY and balanced autosomal rearrangements, (9) 47,XYY, (9) Y-deletions, (7) 46,XX males, (32) balanced rearrangements, and (1) unbalanced rearrangement. 3.6% of males tested for Y-microdeletion analysis had abnormalities identified, 90% of which included a deletion of the AZFc region. This study highlights the need of males suffering from non-obstructive infertility to have laboratory genetic testing performed. An abnormal finding can have significant consequences to assisted reproductive techniques and fertility treatment, and provide a firm diagnosis to couples with longstanding infertility.

  3. Diagnostic performance of the ACR/EULAR 2010 criteria for rheumatoid arthritis and two diagnostic algorithms in an early arthritis clinic (REACH).

    Science.gov (United States)

    Alves, Celina; Luime, Jolanda Jacoba; van Zeben, Derkjen; Huisman, Anne-Margriet; Weel, Angelique Elisabeth Adriana Maria; Barendregt, Pieternella Johanna; Hazes, Johanna Maria Wilhelmina

    2011-09-01

    An ACR/EULAR task force released new criteria to classify rheumatoid arthritis at an early stage. This study evaluates the diagnostic performance of these criteria and algorithms by van der Helm and Visser in REACH. Patients with symptoms ≤12 months from REACH were used. Algorithms were tested on discrimination, calibration and diagnostic accuracy of proposed cut-points. Two patient sets were defined to test robustness; undifferentiated arthritis (UA) (n=231) and all patients including those without synovitis (n=513). The outcomes evaluated were methotrexate use and persistent disease at 12 months. In UA patients all algorithms had good areas under the curve 0.79, 95% CI 0.73 to 0.83 for the ACR/EULAR criteria, 0.80, 95% CI 0.74 to 0.87 for van der Helm and 0.83, 95% CI 0.77 to 0.88 for Visser. All calibrated well. Sensitivity and specificity were 0.74 and 0.66 for the ACR/EULAR criteria, 0.1 and 1.0 for van der Helm and 0.59 and 0.93 for Visser. Similar results were found in all patients indicating robustness. The ACR/EULAR 2010 criteria showed good diagnostic properties in an early arthritis cohort reflecting daily practice, as did the van der Helm and Visser algorithms. All were robust. To promote uniformity and comparability the ACR/EULAR 2010 criteria should be used in future diagnostic studies.

  4. Automated Classification of Selected Data Elements from Free-text Diagnostic Reports for Clinical Research.

    Science.gov (United States)

    Löpprich, Martin; Krauss, Felix; Ganzinger, Matthias; Senghas, Karsten; Riezler, Stefan; Knaup, Petra

    2016-08-05

    In the Multiple Myeloma clinical registry at Heidelberg University Hospital, most data are extracted from discharge letters. Our aim was to analyze if it is possible to make the manual documentation process more efficient by using methods of natural language processing for multiclass classification of free-text diagnostic reports to automatically document the diagnosis and state of disease of myeloma patients. The first objective was to create a corpus consisting of free-text diagnosis paragraphs of patients with multiple myeloma from German diagnostic reports, and its manual annotation of relevant data elements by documentation specialists. The second objective was to construct and evaluate a framework using different NLP methods to enable automatic multiclass classification of relevant data elements from free-text diagnostic reports. The main diagnoses paragraph was extracted from the clinical report of one third randomly selected patients of the multiple myeloma research database from Heidelberg University Hospital (in total 737 selected patients). An EDC system was setup and two data entry specialists performed independently a manual documentation of at least nine specific data elements for multiple myeloma characterization. Both data entries were compared and assessed by a third specialist and an annotated text corpus was created. A framework was constructed, consisting of a self-developed package to split multiple diagnosis sequences into several subsequences, four different preprocessing steps to normalize the input data and two classifiers: a maximum entropy classifier (MEC) and a support vector machine (SVM). In total 15 different pipelines were examined and assessed by a ten-fold cross-validation, reiterated 100 times. For quality indication the average error rate and the average F1-score were conducted. For significance testing the approximate randomization test was used. The created annotated corpus consists of 737 different diagnoses paragraphs with a

  5. Clinical benefits of combined diagnostic three-dimensional digital breast tomosynthesis and ultrasound imaging

    Science.gov (United States)

    Varjonen, Mari; Pamilo, Martti; Raulisto, Leena

    2005-04-01

    Our goal is to evaluate diagnostic digital breast tomosynthesis and ultrasound imaging clinical value in detecting and diagnosing early stage breast cancers. Determine if fusion imaging would decrease the number of biopsies and reduce further patient workup otherwise required to establish a definitive diagnosis. This paper presents the clinical results based on the study conducted at Helsinki University Central Hospital. Presentation demonstrates clinical dual modality images and results. Tomosynthesis of amorphous selenium based full field digital mammography system will be also presented. Forty asymptomatic women enrolled in the study based on prior identification of suspicious findings on screening mammograms where the possibility of breast cancer could not be excluded. Abnormal screening mammogram findings included tumor-like densities, parenchymal asymmetries and architectural distortions. Eight women were operated and 32 were not referred for surgery. Those cases, which were operated, three lesions represented ductal carcinoma in situ, two ductal carcinomas, one atypical ductal hyperplasia, one fibroadenoma and one radial scar. The 32 not operated cases revealed to be benign or superimposition of normal parenchymal breast tissue. The cases were returned to biennial screening. Ultrasound did not show clearly any lesions, but using tomosynthesis and ultrasound together we were able to analyze and locate the lesions exactly. Special tomosynthesis improves overall lesion detection and analysis. The value of tomosynthesis and ultrasound fusion imaging will be to provide additional clinical information in order to improve decision making accuracy to either confirm or exclude a suspected abnormality and in particular detect small breast cancers.

  6. A compact microscope setup for multimodal nonlinear imaging in clinics and its application to disease diagnostics.

    Science.gov (United States)

    Meyer, Tobias; Baumgartl, Martin; Gottschall, Thomas; Pascher, Torbjörn; Wuttig, Andreas; Matthäus, Christian; Romeike, Bernd F M; Brehm, Bernhard R; Limpert, Jens; Tünnermann, Andreas; Guntinas-Lichius, Orlando; Dietzek, Benjamin; Schmitt, Michael; Popp, Jürgen

    2013-07-21

    The past years have seen increasing interest in nonlinear optical microscopic imaging approaches for the investigation of diseases due to the method's unique capabilities of deep tissue penetration, 3D sectioning and molecular contrast. Its application in clinical routine diagnostics, however, is hampered by large and costly equipment requiring trained staff and regular maintenance, hence it has not yet matured to a reliable tool for application in clinics. In this contribution implementing a novel compact fiber laser system into a tailored designed laser scanning microscope results in a small footprint easy to use multimodal imaging platform enabling simultaneously highly efficient generation and acquisition of second harmonic generation (SHG), two-photon excited fluorescence (TPEF) as well as coherent anti-Stokes Raman scattering (CARS) signals with optimized CARS contrast for lipid imaging for label-free investigation of tissue samples. The instrument combining a laser source and a microscope features a unique combination of the highest NIR transmission and a fourfold enlarged field of view suited for investigating large tissue specimens. Despite its small size and turnkey operation rendering daily alignment dispensable the system provides the highest flexibility, an imaging speed of 1 megapixel per second and diffraction limited spatial resolution. This is illustrated by imaging samples of squamous cell carcinoma of the head and neck (HNSCC) and an animal model of atherosclerosis allowing for a complete characterization of the tissue composition and morphology, i.e. the tissue's morphochemistry. Highly valuable information for clinical diagnostics, e.g. monitoring the disease progression at the cellular level with molecular specificity, can be retrieved. Future combination with microscopic probes for in vivo imaging or even implementation in endoscopes will allow for in vivo grading of HNSCC and characterization of plaque deposits towards the detection of high

  7. Application of Quality Assurance Strategies in Diagnostics and Clinical Support Services in Iranian Hospitals

    Directory of Open Access Journals (Sweden)

    Asgar Aghaei Hashjin

    2015-10-01

    Full Text Available Background Iran has a widespread diagnostics and clinical support services (DCSS network that plays a crucial role in providing diagnostic and clinical support services to both inpatient and outpatient care. However, very little is known on the application of quality assurance (QA policies in DCSS units. This study explores the extent of application of eleven QA strategies in DCSS units within Iranian hospitals and its association with hospital characteristics. Methods A descriptive cross-sectional study was conducted in 2009/2010. Data were collected from 554 DCSS units among 84 hospitals. Results The average reported application rate for the QA strategies ranged from 57%-94% in the DCSS units. Most frequently reported were checking drugs expiration dates (94%, pharmacopoeia availability (92%, equipment calibration (87% and identifying responsibilities (86%. Least reported was external auditing of the DCSS (57%. The clinical chemistry and microbiology laboratories (84%, pharmacies, blood bank services (83% reported highest average application rates across all questioned QA strategies. Lowest application rates were reported in human tissue banks (50%. There was no significant difference between the reported application rates in DCSS in the general/specialized, teaching/research, nonteaching/research hospitals with the exception of pharmacies and radiology departments. They reported availability of a written QA plan significantly more often in research hospitals. Nearly all QA strategies were reported to be applied significantly more often in the DCSS of Social Security Organization (SSO and private-for-profit hospitals than in governmental hospitals. Conclusion There is still room for strengthening the managerial cycle of QA systems and accountability in the DCSS in Iranian hospitals. Getting feedback, change and learning through application of specific QA strategies (eg, external/internal audits can be improved. Both the effectiveness of QA

  8. Application of Quality Assurance Strategies in Diagnostics and Clinical Support Services in Iranian Hospitals.

    Science.gov (United States)

    Aghaei Hashjin, Asgar; Kringos, Dionne; Ravaghi, Hamid; Manoochehri, Jila; Gorji, Hassan Abolghasem; Klazinga, Niek S

    2015-05-20

    Iran has a widespread diagnostics and clinical support services (DCSS) network that plays a crucial role in providing diagnostic and clinical support services to both inpatient and outpatient care. However, very little is known on the application of quality assurance (QA) policies in DCSS units. This study explores the extent of application of eleven QA strategies in DCSS units within Iranian hospitals and its association with hospital characteristics. A descriptive cross-sectional study was conducted in 2009/2010. Data were collected from 554 DCSS units among 84 hospitals. The average reported application rate for the QA strategies ranged from 57%-94% in the DCSS units. Most frequently reported were checking drugs expiration dates (94%), pharmacopoeia availability (92%), equipment calibration (87%) and identifying responsibilities (86%). Least reported was external auditing of the DCSS (57%). The clinical chemistry and microbiology laboratories (84%), pharmacies, blood bank services (83%) reported highest average application rates across all questioned QA strategies. Lowest application rates were reported in human tissue banks (50%). There was no significant difference between the reported application rates in DCSS in the general/specialized, teaching/research, nonteaching/research hospitals with the exception of pharmacies and radiology departments. They reported availability of a written QA plan significantly more often in research hospitals. Nearly all QA strategies were reported to be applied significantly more often in the DCSS of Social Security Organization (SSO) and private-for-profit hospitals than in governmental hospitals. There is still room for strengthening the managerial cycle of QA systems and accountability in the DCSS in Iranian hospitals. Getting feedback, change and learning through application of specific QA strategies (eg, external/internal audits) can be improved. Both the effectiveness of QA strategies in practice, and the application of

  9. Assessment Procedures for Narcissistic Personality Disorder: A Comparison of the Personality Diagnostic Questionnaire-4 and Best-Estimate Clinical Judgments

    Science.gov (United States)

    Miller, Joshua D.; Campbell, W. Keith; Pilkonis, Paul A.; Morse, Jennifer Q.

    2008-01-01

    This study examined the degree of correspondence between two assessments for narcissistic personality disorder (NPD) in a mixed clinical and community sample--one using a self-report measure (Personality Diagnostic Questionnaire-4) and the other using clinical judgments derived from an assessment based on the longitudinal, expert, all data (LEAD)…

  10. Quality control for the in-clinic veterinary laboratory and pre-analytic considerations for specialized diagnostic testing.

    Science.gov (United States)

    Camus, Melinda S

    2016-09-01

    This review, aimed primarily at general practitioners, focuses on quality assurance/quality control principles for all three phases of clinical pathology testing: preanalytic, analytic, and postanalytic. Specific emphasis is placed on the preanalytic phase of diagnostic modalities for identifying neoplastic cells, specifically flow cytometry, PCR for antigen receptor rearrangement, and immunocytochemistry. Recommendations for establishing an in-clinic quality assurance system are provided.

  11. HEART score and clinical gestalt have similar diagnostic accuracy for diagnosing ACS in an unselected population of patients with chest pain presenting in the ED.

    Science.gov (United States)

    Visser, Anniek; Wolthuis, Albert; Breedveld, Rob; ter Avest, Ewoud

    2015-08-01

    Acute coronary syndrome (ACS) can be a diagnostic challenge in the emergency department (ED). Recently, the HEART score was developed, a simple bedside scoring system that quantifies risk of ischaemic events in patients with undifferentiated chest pain presenting in the ED. In this prospective cohort study, we compared the diagnostic accuracy of HEART score and clinical gestalt (clinical judgement) for diagnosing ACS in an unselected population of patients with chest pain presenting to the ED. HEART score (0-10) and clinical gestalt (low risk, intermediate risk or high risk of ACS) were prospectively determined in the ED in 255 patients presenting with chest pain by the treating physician. The reference standard was the presence of ACS, which was defined as either acute myocardial infarction (AMI) or the occurrence of a major adverse cardiac event within 6 weeks after presentation in the ED. 75 out of 255 patients (29%) had an ACS. A HEART score ≤3 had a lower negative likelihood ratio (0.15 (0.06-0.36)) for ACS than a low risk based on clinical gestalt (0.35 (0.19-0.64)), whereas a high HEART score ≥7 had a higher positive likelihood ratio (5.2 (3.2-8.5) vs 3.1 (2.2-4.4)). However, c-statistic of HEART score was not significantly different from clinical gestalt (0.81 (0.76-0.86) vs 0.79 (0.73-0.84), p=0.13). Our study demonstrates that HEART score and clinical gestalt have similar diagnostic accuracy for diagnosing ACS in an unselected population of patients with chest pain presenting in the ED. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  12. Clinical diagnostic approach to severe acute respiratory syndrome: an institution's experience

    Institute of Scientific and Technical Information of China (English)

    孙永昌; 姚婉贞; 王筱宏; 贺蓓; 赵鸣武; 孙伯章; 山耘; 郑亚安; 张福春; 孙威

    2003-01-01

    Objective To analyze diagnostic approach to severe acute respiratory syndrome (SARS) according to the diagnostic criteria issued by the Ministry of Health of China (MHC). Methods The clinical data and the diagnostic results of 108 cases of SARS were retrospectively reviewed according to the MHC criteria. Results There were 55 men and 53 women, with a median age of 34.5 years (range, 12-78 years). The interval between their first visit and clinical diagnosis was 3 days (range, 0-14 days). The diagnosis was made at the first visit in 7 (6.5%, 7/108) cases with a history of exposure to SARS patients and infiltrates on chest radiograph. Eighty-nine (82.4%) and 12 (11.1%) patients were categorized as probable cases and suspected cases respectively at their first visit and a clinical diagnosis of SARS was made subsequently. The interval between first visit and reaching the final diagnosis was 1-3 days in 72 (66.7%) cases and 4 days in 29 (26.9%) cases. The final diagnosis was made in 0-14 days (median, 2 days) for those (n=59, 54.6%) with a history of close contact with SARS patients and 2-8 days (median, 3 days) for those (n=49, 45.4%) living in Beijing but without such a history (P=0.03). The chest radiograph was interpreted as unremarkable in 26 (24.1%) cases at their first visit, and the diagnosis was made in 4 days (range 2-8 days), which was significantly longer compared with other cases (P<0.001). In patients without a history of close contact with SARS patients, all the five criteria were met after combination antibiotic therapy had failed. Conclusions A chest radiograph without infiltrates at the early stage of SARS is an important factor responsible for delayed diagnosis. In patients without a history of close contact with SARS cases, antibiotic effect was a major factor influencing doctors' diagnosis.

  13. Clinical importance of personality difficulties: diagnostically sub-threshold personality disorders.

    Science.gov (United States)

    Karukivi, Max; Vahlberg, Tero; Horjamo, Kalle; Nevalainen, Minna; Korkeila, Jyrki

    2017-01-14

    Current categorical classification of personality disorders has been criticized for overlooking the dimensional nature of personality and that it may miss some sub-threshold personality disturbances of clinical significance. We aimed to evaluate the clinical importance of these conditions. For this, we used a simple four-level dimensional categorization based on the severity of personality disturbance. The sample consisted of 352 patients admitted to mental health services. All underwent diagnostic assessments (SCID-I and SCID-II) and filled in questionnaires concerning their social situation and childhood adversities, and other validated tools, including the Beck Depression Inventory (BDI), Alcohol Use Disorders Identification Test (AUDIT), health-related quality of life (15D), and the five-item Mental Health Index (MHI-5). The patients were categorized into four groups according to the level of personality disturbance: 0 = No personality disturbance, 1 = Personality difficulty (one criterion less than threshold for one or more personality disorders), 2 = Simple personality disorder (one personality disorder), and 3 = Complex/Severe personality disorder (two or more personality disorders or any borderline and antisocial personality disorder). The proportions of the groups were as follows: no personality disturbance 38.4% (n = 135), personality difficulty 14.5% (n = 51), simple personality disorder 19.9% (n = 70), and complex/severe personality disorder 24.4% (n = 86). Patients with no personality disturbance were significantly differentiated (p personality disorders stood out as being worst off. Social dysfunction was related to the severity of the personality disturbance. Patients with a personality difficulty or a simple personality disorder had prominent symptoms and difficulties, but the differences between these groups were mostly non-significant. An elevated severity level of personality disturbance is associated with an

  14. Optical diagnostics based on elastic scattering: Recent clinical demonstrations with the Los Alamos Optical Biopsy System

    Energy Technology Data Exchange (ETDEWEB)

    Bigio, I.J.; Loree, T.R.; Mourant, J.; Shimada, T. [Los Alamos National Lab., NM (United States); Story-Held, K.; Glickman, R.D. [Texas Univ. Health Science Center, San Antonio, TX (United States). Dept. of Ophthalmology; Conn, R. [Lovelace Medical Center, Albuquerque, NM (United States). Dept. of Urology

    1993-08-01

    A non-invasive diagnostic tool that could identify malignancy in situ and in real time would have a major impact on the detection and treatment of cancer. We have developed and are testing early prototypes of an optical biopsy system (OBS) for detection of cancer and other tissue pathologies. The OBS invokes a unique approach to optical diagnosis of tissue pathologies based on the elastic scattering properties, over a wide range of wavelengths, of the microscopic structure of the tissue. The use of elastic scattering as the key to optical tissue diagnostics in the OBS is based on the fact that many tissue pathologies, including a majority of cancer forms, manifest significant architectural changes at the cellular and sub-cellular level. Since the cellular components that cause elastic scattering have dimensions typically on the order of visible to near-IR wavelengths, the elastic (Mie) scattering properties will be strongly wavelength dependent. Thus, morphology and size changes can be expected to cause significant changes in an optical signature that is derived from the wavelength dependence of elastic scattering. The data acquisition and storage/display time with the OBS instrument is {approximately}1 second. Thus, in addition to the reduced invasiveness of this technique compared with current state-of-the-art methods (surgical biopsy and pathology analysis), the OBS offers the possibility of impressively faster diagnostic assessment. The OBS employs a small fiber-optic probe that is amenable to use with any endoscope, catheter or hypodermic, or to direct surface examination (e.g. as in skin cancer or cervical cancer). It has been tested in vitro on animal and human tissue samples, and clinical testing in vivo is currently in progress.

  15. Clinical Evaluation of Rapid Diagnostic Test Kit for Scrub Typhus with Improved Performance

    Science.gov (United States)

    2016-01-01

    Diagnosis of scrub typhus is challenging due to its more than twenty serotypes and the similar clinical symptoms with other acute febrile illnesses including leptospirosis, murine typhus and hemorrhagic fever with renal syndrome. Accuracy and rapidity of a diagnostic test to Orientia tsutsugamushi is an important step to diagnose this disease. To discriminate scrub typhus from other diseases, the improved ImmuneMed Scrub Typhus Rapid Diagnostic Test (RDT) was evaluated in Korea and Sri Lanka. The sensitivity at the base of each IgM and IgG indirect immunofluorescent assay (IFA) in Korean patients was 98.6% and 97.1%, and the specificity was 98.2% and 97.7% respectively. The sensitivity and specificity for retrospective diagnosis at the base of IFA in Sri Lanka was 92.1% and 96.1%. ImmuneMed RDT was not reactive to any serum from seventeen diseases including hemorrhagic fever with renal syndrome (n = 48), leptospirosis (n = 23), and murine typhus (n = 48). ImmuneMed RDT shows superior sensitivity (98.6% and 97.1%) compared with SD Bioline RDT (84.4% at IgM and 83.3% at IgG) in Korea. The retrospective diagnosis of ImmuneMed RDT exhibits 94.0% identity with enzyme-linked Immunosorbent assay (ELISA) using South India patient serum samples. These results suggest that this RDT can replace other diagnostic tests and is applicable for global diagnosis of scrub typhus. This rapid and accurate diagnosis will be beneficial for diagnosing and managing scrub typhus. PMID:27478327

  16. Sequential waves of gene expression in patients with clinically defined dengue illnesses reveal subtle disease phases and predict disease severity.

    Directory of Open Access Journals (Sweden)

    Peifang Sun

    Full Text Available BACKGROUND: Dengue virus (DENV infection can range in severity from mild dengue fever (DF to severe dengue hemorrhagic fever (DHF or dengue shock syndrome (DSS. Changes in host gene expression, temporally through the progression of DENV infection, especially during the early days, remains poorly characterized. Early diagnostic markers for DHF are also lacking. METHODOLOGY/PRINCIPAL FINDINGS: In this study, we investigated host gene expression in a cohort of DENV-infected subjects clinically diagnosed as DF (n = 51 and DHF (n = 13 from Maracay, Venezuela. Blood specimens were collected daily from these subjects from enrollment to early defervescence and at one convalescent time-point. Using convalescent expression levels as baseline, two distinct groups of genes were identified: the "early" group, which included genes associated with innate immunity, type I interferon, cytokine-mediated signaling, chemotaxis, and complement activity peaked at day 0-1 and declined on day 3-4; the second "late" group, comprised of genes associated with cell cycle, emerged from day 4 and peaked at day 5-6. The up-regulation of innate immune response genes coincided with the down-regulation of genes associated with viral replication during day 0-3. Furthermore, DHF patients had lower expression of genes associated with antigen processing and presentation, MHC class II receptor, NK and T cell activities, compared to that of DF patients. These results suggested that the innate and adaptive immunity during the early days of the disease are vital in suppressing DENV replication and in affecting outcome of disease severity. Gene signatures of DHF were identified as early as day 1. CONCLUSIONS/SIGNIFICANCE: Our study reveals a broad and dynamic picture of host responses in DENV infected subjects. Host response to DENV infection can now be understood as two distinct phases with unique transcriptional markers. The DHF signatures identified during day 1-3 may have

  17. 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.)

  18. Clinicians' emotional responses and Psychodynamic Diagnostic Manual adult personality disorders: A clinically relevant empirical investigation.

    Science.gov (United States)

    Gazzillo, Francesco; Lingiardi, Vittorio; Del Corno, Franco; Genova, Federica; Bornstein, Robert F; Gordon, Robert M; McWilliams, Nancy

    2015-06-01

    The aim of this study is to explore the relationship between level of personality organization and type of personality disorder as assessed with the categories in the Psychodynamic Diagnostic Manual (PDM; PDM Task Force, 2006) and the emotional responses of treating clinicians. We asked 148 Italian clinicians to assess 1 of their adult patients in treatment for personality disorders with the Psychodiagnostic Chart (PDC; Gordon & Bornstein, 2012) and the Personality Diagnostic Prototype (PDP; Gazzillo, Lingiardi, & Del Corno, 2012) and to complete the Therapist Response Questionnaire (TRQ; Betan, Heim, Zittel-Conklin, & Westen, 2005). The patients' level of overall personality pathology was positively associated with helpless and overwhelmed responses in clinicians and negatively associated with positive emotional responses. A parental and disengaged response was associated with the depressive, anxious, and dependent personality disorders; an exclusively parental response with the phobic personality disorder; and a parental and criticized response with narcissistic disorder. Dissociative disorder evoked a helpless and parental response in the treating clinicians whereas somatizing disorder elicited a disengaged reaction. An overwhelmed and disengaged response was associated with sadistic and masochistic personality disorders, with the latter also associated with a parental and hostile/criticized reaction; an exclusively overwhelmed response with psychopathic patients; and a helpless response with paranoid patients. Finally, patients with histrionic personality disorder evoked an overwhelmed and sexualized response in their clinicians whereas there was no specific emotional reaction associated with the schizoid and the obsessive-compulsive disorders. Clinical implications of these findings were discussed.

  19. Clinical evaluation of a wireless ECG sensor system for arrhythmia diagnostic purposes.

    Science.gov (United States)

    Fensli, Rune; Gundersen, Torstein; Snaprud, Tormod; Hejlesen, Ole

    2013-06-01

    In a clinical study, a novel wireless electrocardiogram (ECG) recorder has been evaluated with regard to its ability to perform arrhythmia diagnostics. As the ECG recorder will detect a "non-standard" ECG signal, it has been necessary to compare those signals to "standard" ECG recording signals in order to evaluate the arrhythmia detection ability of the new system. Simultaneous recording of ECG signals from both the new wireless ECG recorder and a conventional Holter recorder was compared by two independent cardiology specialists with regard to signal quality for performing arrhythmia diagnosis. In addition, calculated R-R intervals from the two systems were correlated. A total number of 16 patients participated in the study. It can be considered that recorded ECG signals obtained from the wireless ECG system had an acceptable quality for arrhythmia diagnosis. Some of the patients used the wireless sensor while doing physical sport activities, and the quality of the recorded ECG signals made it possible to perform arrhythmia diagnostics even under such conditions. Consequently, this makes possible improvements in correlating arrhythmias to physical activities.

  20. Diagnostic Value of the First and Second Generation of Thyrotropin Receptor Antibodies in Clinical Practice

    Directory of Open Access Journals (Sweden)

    V Fadeyev

    2006-06-01

    Full Text Available Introduction: The pathogenesis of Graves’ disease consists in production of stimulating antibodies against thyrotropin receptors (rTHS-AB. In the last decades two different assays for detection of rTHS-AB were introduced in clinical practice: I-st (with animal antigen and Il-nd generation (with human antigen assays. Design: 44 patient with hyperthyroidism (age 52.0 [34.0; 64.0] years; 42 women were enrolled in the study. 29 of them have hyperthyroidism due to Graves’ disease (GD, 15 due to multinodular toxic goiter (functional autonomy of the thyroid; FA. rTHS-AB in all the patients were detected by two methods: I-st (Medipan Diagnostica and II-nd generation (BRAHMS. Results: The sensitivity, specificity and likelihood ratio in the diagnostics of GD of the II-nd generation assay were higher than for the I-st generation assay for detection of rTHS-AB (93.1%, 94% and 15.5 vs. 75.9%, 80% and 3.8. Conclusion: II-nd generation assay (with human antigen has superior value for the diagnostics of Graves’ disease.

  1. Optical coherence tomography diagnostics for onco–urology. Review of clinical perspectives

    Directory of Open Access Journals (Sweden)

    Sergiy Kharchenko

    2013-01-01

    Full Text Available Introduction. Optical coherence tomography (OCT is being investigated widely for use in urologic pathology. The current imaging of urogenital cancers cannot be perfect, thus, routine methods demands new updates or inventions of alternative radiological scope. OCT presents so–called “live” optical biopsy. The authors aim to review this modality for uro–oncological purposes.Matherial and methods. A series of 37 publications between 1989 and 2012 was selected and cited from GoogleScholar and PubMED/MEDLINE. The urogenital tract (bladder, ureter, scrotum organs and prostate was imaged by OCT.Results. The overall OCT sensitivity, specificity, accuracy, negative and positive predictive values ranged a lot on example of the urinary bladder’s tumors screening. The data were 75–100%, 65–97.9%, 92%, 75%, 100%, respectively. Notwithstanding, a diagnostic importance of OCT may be comparable with urine cytology, cystoscopy, computerized tomography and magnetic resonance imaging.Conclusions. OCT demonstrated its imaging potential, while till the present OCT plays role of an additional imaging. Future progress of OCT involvement in experimental and clinical once–urological diagnostics is needed under high evidence control.

  2. Evaluating autism in a Chinese population:the Clinical Autism Diagnostic Scale

    Institute of Scientific and Technical Information of China (English)

    Grace Hao; Thomas L Layton; Xiao-Bing Zou; Dong-Yun Li

    2014-01-01

    Background: The purpose of this study was to report on the psychometric measures and discriminatory function of a new diagnostic test for autism spectrum disorders, the Clinical Autism Diagnostic Scale (CADS). Methods: The CADS was used to test 216 children in the study, including 86 with low-functioning autism specturm disorders (ASD), 16 children with highfunctioning ASD, 16 with pervasive developmental disorder, not otherwise specified, 7 with Asperger syndrome, 65 with typical development, 11 children with language impairments and 15 with intellectual disabilities. Ages ranged from 38-73 months. Behaviors for the groups were compared across seven domains. Results: The results indicated the instrument was reliable, valid, and successfully differentiated the different groups of children with and without autism. All ASD groups were found to display difficulties in the domains of sensory behaviors and stereotyped behaviors. The play and social domains were found to measure similar underlying concepts of behaviors, while the receptive language and expressive language domains were also found to measure similar underlying-language concepts. The group of children diagnosed as having low-functioning autism performed less well on all tested domains in the instrument than did the other three groups of children with ASD, and these other three groups each also presented unique patterns of behaviors and differed on individual domains. Conclusions: CADS is a reliable and valid test. It successfully differentiates the abilities of children with ASD at different levels of functioning.

  3. Pulmonary endarterectomy: part I. Pathophysiology, clinical manifestations, and diagnostic evaluation of chronic thromboembolic pulmonary hypertension.

    Science.gov (United States)

    Banks, Dalia A; Pretorius, Gert Victor D; Kerr, Kim M; Manecke, Gerard R

    2014-12-01

    Chronic thromboembolic pulmonary hypertension (CTEPH) results from recurrent or incomplete resolution of pulmonary embolism. CTEPH is much more common than generally appreciated. Although pulmonary embolism (PE) affects a large number of Americans, chronic pulmonary hypertension (PH) remains underdiagnosed. It is imperative that all patients with PH be screened for the presence of CTEPH since this form of PH is potentially curable with pulmonary thromboendarterectomy (PTE) surgery. The success of this procedure depends greatly on the collaboration of a multidisciplinary team approach that includes pulmonary medicine, cardiothoracic surgery, and cardiac anesthesiology. This review, based on the experience of more than 3000 pulmonary endarterectomy surgeries, is divided into 2 parts. Part I focuses on the clinical history and pathophysiology, diagnostic workup, and intraoperative echocardiography. Part II focuses on the surgical approach, anesthetic management, postoperative care, and complications. © The Author(s) 2014.

  4. The clinical features and diagnostic value of CT in Fahr’s disease

    OpenAIRE

    Wei-dong Hu; Li Xiang; Xiu-rong Wang

    2013-01-01

    Objectives:  To study the clinical features and diagnostic value of CT in Fahr’s disease. Methods:  We retrospectively analyzed skull images of 8,000 cases and observed the incidence and imaging characteristics of Fahr’s disease. Results: Fahr’s disease were found in 6 patients (6/4000=0.075%)whose ages ranged from 16 to 62 years (average age:38.5±6.4years). We found that 6 Fahr’s disease had been incidentally detected in 4 men(4/6=66.7%) and 2 women(2/6=33.4%); serum calcium:2.13~2.42 mmol/L...

  5. An Update on Clinical Burden, Diagnostic Tools, and Therapeutic Options of Staphylococcus aureus

    Science.gov (United States)

    Reddy, Prakash Narayana; Srirama, Krupanidhi; Dirisala, Vijaya R

    2017-01-01

    Staphylococcus aureus is an important pathogen responsible for a variety of diseases ranging from mild skin and soft tissue infections, food poisoning to highly serious diseases such as osteomyelitis, endocarditis, and toxic shock syndrome. Proper diagnosis of pathogen and virulence factors is important for providing timely intervention in the therapy. Owing to the invasive nature of infections and the limited treatment options due to rampant spread of antibiotic-resistant strains, the trend for development of vaccines and antibody therapy is increasing at rapid rate than development of new antibiotics. In this article, we have discussed elaborately about the host-pathogen interactions, clinical burden due to S aureus infections, status of diagnostic tools, and treatment options in terms of prophylaxis and therapy. PMID:28579798

  6. The main challenges that remain in applying high-throughput sequencing to clinical diagnostics.

    Science.gov (United States)

    Loeffelholz, Michael; Fofanov, Yuriy

    2015-01-01

    Over the last 10 years, the quality, price and availability of high-throughput sequencing instruments have improved to the point that this technology may be close to becoming a routine tool in the diagnostic microbiology laboratory. Two groups of challenges, however, have to be resolved in order to move this powerful research technology into routine use in the clinical microbiology laboratory. The computational/bioinformatics challenges include data storage cost and privacy concerns, requiring analysis to be performed without access to cloud storage or expensive computational infrastructure. The logistical challenges include interpretation of complex results and acceptance and understanding of the advantages and limitations of this technology by the medical community. This article focuses on the approaches to address these challenges, such as file formats, algorithms, data collection, reporting and good laboratory practices.

  7. Carbon Nanotube Biosensors for Space Molecule Detection and Clinical Molecular Diagnostics

    Science.gov (United States)

    Han, Jie

    2001-01-01

    Both space molecule detection and clinical molecule diagnostics need to develop ultra sensitive biosensors for detection of less than attomole molecules such as amino acids for DNA. However all the electrode sensor systems including those fabricated from the existing carbon nanotubes, have a background level of nA (nanoAmp). This has limited DNA or other molecule detection to nA level or molecules whose concentration is, much higher than attomole level. A program has been created by NASA and NCI (National Cancer Institute) to exploit the possibility of carbon nanotube based biosensors to solve this problem for both's interest. In this talk, I will present our effort on the evaluation and novel design of carbon nanotubes as electrode biosensors with strategies to minimize background currents while maximizing signal intensity.The fabrication of nanotube electrode arrays, immobilization of molecular probes on nanotube electrodes and in vitro biosensor testing will also be discussed.

  8. The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing.

    Science.gov (United States)

    Skinner, Debra; Raspberry, Kelly A; King, Martha

    2016-11-01

    Genomic sequencing technology is moving rapidly from the research setting into clinical medicine but significant technological and interpretive challenges remain. Exome sequencing (ES) in its recent clinical application provides a genetic diagnosis in about 25 per cent of cases (Berg 2014). While this diagnostic yield is substantial, it also indicates that in a majority of cases, patients are receiving negative results (i.e. no explanatory genetic variant found) from this technology. There are a number of uncertainties regarding the meaning of a negative result in the current context of ES. A negative result may be due to current technological limitations that hinder detection of disease-causing variants or to gaps in the knowledge base that prohibit accurate interpretation of their pathogenicity; or it may indicate that there is not a genetic etiology for the disorder. In this paper we examine the uncertainties and nuances of the negative result from genome sequencing and how both clinicians and patients make meaning of it as revealed in ethnographic observations of the clinic session where results are returned, and in interviews with patients. We find that clinicians and patients construct the meaning of a negative result in ways that are uncertain, contingent, and multivalent; but invested with optimism, promise, and potentiality. © 2016 Foundation for the Sociology of Health & Illness.

  9. The prevalence of clinical diagnostic groups in patients with temporomandibular disorders.

    Science.gov (United States)

    Machado, Luciana Pimenta e Silva; Nery, Cláudio de Góis; Leles, Cláudio Rodrigues; Nery, Marianita Batista de Macedo; Okeson, Jeffrey P

    2009-07-01

    The aim of this study was to observe the prevalence of diagnostic groups of temporomandibular disorders (TMD) in patients who were referred or sought treatment for TMD and/or orofacial pain in a private clinic. The clinical records of 357 patients were evaluated and selected based on inclusion/exclusion criteria; the mean age was 32 years. A clinical examination was performed and the diagnosis was based on the American Academy of Orofacial Pain criteria. Results showed that 86.8% of patients were women and 93.3% of the patients presented more than one diagnosis. The most frequent chief complaint (n = 216, chi2 = 30.68, p = 0.001) and total diagnosis realized (n = 748, chi2 = 14.14, p = 0.001) were muscle related. We concluded that women seek treatment for dysfunction/disorders of orofacial structures more than men do; patients seeking specialized treatment have more than one diagnosis and muscle dysfunction is more prevalent than intra-articular disorders.

  10. [Idiopathic mental retardation--importance of clinical diagnostic scores for case selection].

    Science.gov (United States)

    Caba, Lavinia; Rusu, Cristina; Voloşciuc, M; Butnariu, Lăcrămioara; Braha, Elena; Grămescu, Mihaela; Bujoran, C; Gorduza, E V; Covic, M

    2009-01-01

    We present a retrospective study aimed to identify the correlation between de Vries clinical score and the detection of chromosomal abnormalities in mentally retarded (MR) children. We have used the score to identify patients who should be tested by karyotyping and subsequently MLPA (multiplex ligation dependent probe amplification) for subtelomeric rearrangements. Our group is formed of 36 children with variable MR associated with other anomalies. 18 children had chromosomal defects, whereas 18 had normal karyotypes. In the first group, total scores varied between 3 and 7. Chromosomal anomalies identified were: numerical (4) and structural (14). Chromosomes involved were: 1, 4, 5, 7, 8, 9, 17, X. Deletions were the most common and correlate with a greater score (> or = 4). Common clinical features were: short stature, microcephaly, nasal, ear and hand anomalies. In the second group the most frequent clinical feature was hand anomaly (61.2%) and cases with a high score have to be further tested (e.g. using MLPA) in order to identify minor defects. In our opinion a high score indicates the karyotype and then a MLPA testing. In conclusion, we present a retrospective study that proves the use of de Vries diagnostic score in the identification of chromosomal abnormalities in MR children.

  11. Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience

    Directory of Open Access Journals (Sweden)

    C. Alexander Valencia

    2015-08-01

    Full Text Available Background: There are limited reports of the use of whole exome sequencing as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES.Objective: We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered. Moreover, we examined the potential cost-effectiveness of WES by examining the cost burden of diagnostic workups.Methods: To determine the clinical utility of our hospital’s clinical WES, we performed a retrospective review of the first 40 cases. We utilized dual bioinformatics analyses pipelines based on commercially available software and in-house tools. Results: Of the first 40 clinical cases, we identified genetic defects in twelve (30% patients, of which, 47% of the mutations were previously unreported in the literature. Among the 12 patients with positive findings, 7 have autosomal dominant disease and 5 have autosomal recessive disease. Ninety percent of the cohort opted to receive secondary findings, and of those, secondary medical actionable results were returned in three cases. Among these positive cases there are a number of novel mutations that are being reported here. The diagnostic workup included a significant number of genetic tests with microarray and single gene sequencing being the most popular tests. Significantly, genetic diagnosis from WES led to altered patient medical management in positive cases. Conclusions: We demonstrate the clinical utility of WES by establishing the clinical diagnostic rate and its impact on medical management in a large pediatric center. The cost-effectiveness of WES was demonstrated by ending the diagnostic odyssey in positive cases. Also, in some cases it may be most cost-effective to directly perform WES. WES provides a unique glimpse into the complexity of

  12. Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

    Science.gov (United States)

    Valencia, C Alexander; Husami, Ammar; Holle, Jennifer; Johnson, Judith A; Qian, Yaping; Mathur, Abhinav; Wei, Chao; Indugula, Subba Rao; Zou, Fanggeng; Meng, Haiying; Wang, Lijun; Li, Xia; Fisher, Rachel; Tan, Tony; Hogart Begtrup, Amber; Collins, Kathleen; Wusik, Katie A; Neilson, Derek; Burrow, Thomas; Schorry, Elizabeth; Hopkin, Robert; Keddache, Mehdi; Harley, John Barker; Kaufman, Kenneth M; Zhang, Kejian

    2015-01-01

    There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES. We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered. Moreover, we examined the potential cost-effectiveness of WES by examining the cost burden of diagnostic workups. To determine the clinical utility of our hospital's clinical WES, we performed a retrospective review of the first 40 cases. We utilized dual bioinformatics analyses pipelines based on commercially available software and in-house tools. Of the first 40 clinical cases, we identified genetic defects in 12 (30%) patients, of which 47% of the mutations were previously unreported in the literature. Among the 12 patients with positive findings, seven have autosomal dominant disease and five have autosomal recessive disease. Ninety percent of the cohort opted to receive secondary findings and of those, secondary medical actionable results were returned in three cases. Among these positive cases, there are a number of novel mutations that are being reported here. The diagnostic workup included a significant number of genetic tests with microarray and single-gene sequencing being the most popular tests. Significantly, genetic diagnosis from WES led to altered patient medical management in positive cases. We demonstrate the clinical utility of WES by establishing the clinical diagnostic rate and its impact on medical management in a large pediatric center. The cost-effectiveness of WES was demonstrated by ending the diagnostic odyssey in positive cases. Also, in some cases it may be most cost-effective to directly perform WES. WES provides a unique glimpse into the complexity of genetic disorders.

  13. Automated Detection of Malarial Retinopathy in Digital Fundus Images for Improved Diagnosis in Malawian Children with Clinically Defined Cerebral Malaria

    Science.gov (United States)

    Joshi, Vinayak; Agurto, Carla; Barriga, Simon; Nemeth, Sheila; Soliz, Peter; MacCormick, Ian J.; Lewallen, Susan; Taylor, Terrie E.; Harding, Simon P.

    2017-02-01

    Cerebral malaria (CM), a complication of malaria infection, is the cause of the majority of malaria-associated deaths in African children. The standard clinical case definition for CM misclassifies ~25% of patients, but when malarial retinopathy (MR) is added to the clinical case definition, the specificity improves from 61% to 95%. Ocular fundoscopy requires expensive equipment and technical expertise not often available in malaria endemic settings, so we developed an automated software system to analyze retinal color images for MR lesions: retinal whitening, vessel discoloration, and white-centered hemorrhages. The individual lesion detection algorithms were combined using a partial least square classifier to determine the presence or absence of MR. We used a retrospective retinal image dataset of 86 pediatric patients with clinically defined CM (70 with MR and 16 without) to evaluate the algorithm performance. Our goal was to reduce the false positive rate of CM diagnosis, and so the algorithms were tuned at high specificity. This yielded sensitivity/specificity of 95%/100% for the detection of MR overall, and 65%/94% for retinal whitening, 62%/100% for vessel discoloration, and 73%/96% for hemorrhages. This automated system for detecting MR using retinal color images has the potential to improve the accuracy of CM diagnosis.

  14. Diagnostic accuracy of the vegetative and minimally conscious state: Clinical consensus versus standardized neurobehavioral assessment

    Directory of Open Access Journals (Sweden)

    Majerus Steve

    2009-07-01

    Full Text Available Abstract Background Previously published studies have reported that up to 43% of patients with disorders of consciousness are erroneously assigned a diagnosis of vegetative state (VS. However, no recent studies have investigated the accuracy of this grave clinical diagnosis. In this study, we compared consensus-based diagnoses of VS and MCS to those based on a well-established standardized neurobehavioral rating scale, the JFK Coma Recovery Scale-Revised (CRS-R. Methods We prospectively followed 103 patients (55 ± 19 years with mixed etiologies and compared the clinical consensus diagnosis provided by the physician on the basis of the medical staff's daily observations to diagnoses derived from CRS-R assessments performed by research staff. All patients were assigned a diagnosis of 'VS', 'MCS' or 'uncertain diagnosis.' Results Of the 44 patients diagnosed with VS based on the clinical consensus of the medical team, 18 (41% were found to be in MCS following standardized assessment with the CRS-R. In the 41 patients with a consensus diagnosis of MCS, 4 (10% had emerged from MCS, according to the CRS-R. We also found that the majority of patients assigned an uncertain diagnosis by clinical consensus (89% were in MCS based on CRS-R findings. Conclusion Despite the importance of diagnostic accuracy, the rate of misdiagnosis of VS has not substantially changed in the past 15 years. Standardized neurobehavioral assessment is a more sensitive means of establishing differential diagnosis in patients with disorders of consciousness when compared to diagnoses determined by clinical consensus.

  15. Clinical judgment does not circumvent the need for diagnostic endoscopy in upper gastrointestinal hemorrhage.

    Science.gov (United States)

    de Melo, Silvio W; Bhore, Rafia; Rockey, Don C

    2013-12-01

    To better understand the ability of physicians to predict the need for endoscopic therapy and to accurately predict specific endoscopic lesions, we performed a prospective, nonrandomized, observational cohort study in patients presenting with upper gastrointestinal hemorrhage (UGIH) who were undergoing endoscopy. We aimed to evaluate the pre-endoscopy diagnostic accuracy and the correct prediction of high-risk lesions in patients with UGIH according to the level of clinical expertise. One hundred twenty-one patients presenting with hematemesis and/or melena within 48 hours were studied. A questionnaire was given to primary physicians, gastroenterology fellows, and gastroenterology faculty, asking them to predict the need for endoscopic therapy and the cause of the bleed. The need for endoscopic therapy was predicted accurately by 68% of the primary physicians, 70% of the fellows, and 74% of the faculty physicians (P = 0.61). The faculty were able to predict which patients did not need therapy more accurately than the fellows and the residents: 85%, 78%, and 68%, respectively (P = 0.03). The diagnostic accuracy of the clinicians--that is, the ability to accurately predict the bleeding lesion among the primary physicians, fellows, and faculty physicians, was similar at 46%, 52%, and 48%, respectively (P = 0.65). The accuracy of predicting the need for endoscopic therapy and the culprit cause of UGIH, based on clinical evaluation, was similar across levels of expertise. However, the faculty gastroenterologists were better than the gastroenterology fellows and the primary providers in predicting which patients do not require endoscopic treatment. We conclude that the relative inability of any group of physicians to accurately predict the presence of high-risk lesions requiring endoscopic therapy suggests that most patients with UGIH should undergo upper endoscopy for diagnosis and possible therapy.

  16. Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.

    Science.gov (United States)

    Cortese, A; Franciotta, D; Alfonsi, E; Visigalli, N; Zardini, E; Diamanti, L; Prunetti, P; Osera, C; Gastaldi, M; Berzero, G; Pichiecchio, A; Piccolo, G; Lozza, A; Piscosquito, G; Salsano, E; Ceroni, M; Moglia, A; Bono, G; Pareyson, D; Marchioni, E

    2016-04-15

    Combined central and peripheral demyelination (CCPD) is rare, and current knowledge is based on case reports and small case series. The aim of our study was to describe the clinical features, diagnostic results, treatment and outcomes in a large cohort of patients with CCPD. Thirty-one patients entered this retrospective, observational, two-center study. In 20 patients (65%) CCPD presented, after an infection, as myeloradiculoneuropathy, encephalopathy, cranial neuropathy, length-dependent peripheral neuropathy, or pseudo-Guillain-Barré syndrome. Demyelinating features of peripheral nerve damage fulfilling European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria for CIDP were found in 23 patients (74%), and spatial dissemination of demyelinating lesions on brain MRI fulfilling the 2010 McDonald criteria for multiple sclerosis (MS) in 11 (46%). Two thirds of the patients had a relapsing or progressive disease course, usually related to the appearance of new spinal cord lesions or worsening of the peripheral neuropathy, and showed unsatisfactory responses to high-dose corticosteroids and intravenous immunoglobulins. The clinical presentation of CCPD was severe in 22 patients (71%), who were left significantly disabled. Our data suggest that CCPD has heterogeneous features and shows frequent post-infectious onset, primary peripheral nervous system or central nervous system involvement, a monophasic or chronic disease course, inadequate response to treatments, and a generally poor outcome. We therefore conclude that the current diagnostic criteria for MS and CIDP may not fully encompass the spectrum of possible manifestations of CCPD, whose pathogenesis remains largely unknown. Copyright © 2016 Elsevier B.V. All rights reserved.

  17. Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach.

    Science.gov (United States)

    Grumach, Anete Sevciovic; Kirschfink, Michael

    2014-10-01

    Complement deficiencies comprise between 1 and 10% of all primary immunodeficiencies (PIDs) according to national and supranational registries. They are still considered rare and even of less clinical importance. This not only reflects (as in all PIDs) a great lack of awareness among clinicians and general practitioners but is also due to the fact that only few centers worldwide provide a comprehensive laboratory complement analysis. To enable early identification, our aim is to present warning signs for complement deficiencies and recommendations for diagnostic approach. The genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4) is often associated with autoimmune diseases whereas individuals, deficient of properdin or of the terminal pathway components (C5 to C9), are highly susceptible to meningococcal disease. Deficiency of C1 Inhibitor (hereditary angioedema, HAE) results in episodic angioedema, which in a considerable number of patients with identical symptoms also occurs in factor XII mutations. New clinical entities are now reported indicating disease association with partial complement defects or even certain polymorphisms (factor H, MBL, MASPs). Mutations affecting the regulators factor H, factor I, or CD46 and of C3 and factor B leading to severe dysregulation of the alternative pathway have been associated with renal disorders, such as atypical hemolytic uremic syndrome (aHUS) and - less frequent - with membranoproliferative glomerulonephritis (MPGN). We suggest a multi-stage diagnostic protocol starting based on the recognition of so called warning signs which should aid pediatricians and adult physicians in a timely identification followed by a step-wise complement analysis to characterize the defect at functional, protein and molecular level.

  18. DIAGNOSTIC PROFILE IN CHILDREN PRESENTING WITH POOR SCHOLASTIC PERFORMANCE—A CLINIC BASED STUDY

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    Jayaprakash

    2013-02-01

    Full Text Available ABSTRACT: BACKGROUND: Learning is not a unitary process involving teacher and student. It also depends on the relationship and interplay of fami lial, psychological, educational, social and economical atmosphere in and around the child. AIM: The present study was done to formulate a diagnostic profile and compare the co-morbidity sta tus in children presenting with poor scholastic performance in a Child Guidance Clinic s et up. SETTINGS AND DESIGN: A sample of 100 children from the age of 4 years to 12 years at tending the Child Guidance Clinic under the department of Paediatrics in a medical college set u p with history of poor scholastic performance was collected. The study design was case study method. METHODS AND MATERIALS: Detailed psychological analysis was done and diagno sis was made by using the ICD – 10 diagnostic guidelines and multi axial diag nostic system. The study population was divided in to failure (group II and non failure (gr oup I groups based on the repetition of grade and the psychiatric morbidity was compared. STATISTICAL ANALYSIS: Statistical analysis was done by SPSS (Statistical Package for the Social Sc iences and chi square test. RESULTS AND CONCLUSIONS: Psychiatric morbidity was present in 42%, developmen tal disorders in 34%, Non psychiatric medical diagnosis in 25% and abnorma l psychosocial situation in 31% of the sample population. Multiple diagnoses were present in 1 6%. Comparison shows that Prevalence of psychiatric co morbidity was more in the failure group than the non failure group. Scholastic backwardness in children is a complex issue, having various causes. Each child’s problem is unique in nature. So a multi disciplinary interventi on is needed at Paediatric level itself.

  19. Clinical and diagnostic utility of saliva as a non-invasive diagnostic fluid:
a systematic review

    Science.gov (United States)

    Nunes, Lazaro Alessandro Soares; Mussavira, Sayeeda

    2015-01-01

    This systematic review presents the latest trends in salivary research and its applications in health and disease. Among the large number of analytes present in saliva, many are affected by diverse physiological and pathological conditions. Further, the non-invasive, easy and cost-effective collection methods prompt an interest in evaluating its diagnostic or prognostic utility. Accumulating data over the past two decades indicates towards the possible utility of saliva to monitor overall health, diagnose and treat various oral or systemic disorders and drug monitoring. Advances in saliva based systems biology has also contributed towards identification of several biomarkers, development of diverse salivary diagnostic kits and other sensitive analytical techniques. However, its utilization should be carefully evaluated in relation to standardization of pre-analytical and analytical variables, such as collection and storage methods, analyte circadian variation, sample recovery, prevention of sample contamination and analytical procedures. In spite of all these challenges, there is an escalating evolution of knowledge with the use of this biological matrix. PMID:26110030

  20. Clinical and diagnostic utility of saliva as a non-invasive diagnostic fluid: 
a systematic review.

    Science.gov (United States)

    Nunes, Lazaro Alessandro Soares; Mussavira, Sayeeda; Bindhu, Omana Sukumaran

    2015-01-01

    This systematic review presents the latest trends in salivary research and its applications in health and disease. Among the large number of analytes present in saliva, many are affected by diverse physiological and pathological conditions. Further, the non-invasive, easy and cost-effective collection methods prompt an interest in evaluating its diagnostic or prognostic utility. Accumulating data over the past two decades indicates towards the possible utility of saliva to monitor overall health, diagnose and treat various oral or systemic disorders and drug monitoring. Advances in saliva based systems biology has also contributed towards identification of several biomarkers, development of diverse salivary diagnostic kits and other sensitive analytical techniques. However, its utilization should be carefully evaluated in relation to standardization of pre-analytical and analytical variables, such as collection and storage methods, analyte circadian variation, sample recovery, prevention of sample contamination and analytical procedures. In spite of all these challenges, there is an escalating evolution of knowledge with the use of this biological matrix.

  1. NONTUBERCULOUS MYCOBACTERIOSES: EPIDEMIOLOGY, CLINIC AND POSSIBILITIES OF LABORATORY DIAGNOSTICS IN MODERN CONDITIONS

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    Shevchenko OS

    2017-03-01

    Full Text Available Introduction. Today there are more than 150 species of nontuberculous mycobacteria (NTMB known, of which 99 were registered in Europe. Due to the similar clinical picture with tuberculosis, mycobacterioses are difficult to diagnose and often occur with TB as a mixed infection. Also, there are cases of NTMB detection in the sputum of persons previously suffered with tuberculosis, which can lead to a false diagnosis of recurrent disease. Currently, the role of atypical mycobacteria in human pathology is increasing. Atypical mycobacteria are characterized by a wide spectrum of sustainability and potential pathogenicity to humans and animals. It is generally accepted that the reservoir of infection are animals and the environment (water, soil. NTMB presence in water can lead to the erroneous diagnosis of mycobacteriosis due to laboratory contamination of samples with nontuberculous mycobacteria from the outside. Moreover recently it has been found the possibility of transferring NTMB from person to person on the background of existing lung disease. For many types of infections reservoir still has not been found. Aim of this work was to study identified in the Kharkiv region cases of non-tuberculous mycobacterioses, features of their clinical manifestations and laboratory diagnostic options. Materials and Methods. We examined 32 patients (25 men and 7 women, residents of Kharkiv and Kharkiv region, Ukraine, who were diagnosed with "non-tuberculous mycobacteriosis of lungs" during 2014-2016. Patients were examined with routine diagnostic algorithm for TB. Nontuberculous mycobacteriosis was diagnosed on the basis of NTMB growth in BACTEC system, after which the diagnosis was verified by the following criteria: 1. Smear: the absence of formation of Cord-factor (in the smear NTMB are located scattering; 2. Negative immunoassay (ID-test; 3. Negative GeneXpert MTB/RIF Then non-tuberculous mycobacteria were identificated by investigation on solid media

  2. Predictors of diagnostic delay in a clinical sample of French children with attention-deficit/hyperactivity disorder.

    Science.gov (United States)

    Purper-Ouakil, D; Cortese, S; Wohl, M; Asch, M; Acquaviva, E; Falissard, B; Michel, G; Gorwood, P; Mouren, M C

    2007-12-01

    Early recognition of attention-deficit/hyperactivity disorder (ADHD) may improve the educational and psychosocial outcome of most affected children. To date, factors associated with diagnostic delay of ADHD have not specifically been addressed. Aims of this study were to evaluate the mean diagnostic delay (time between first consultation and definite diagnosis) in a clinical sample of French children with ADHD referred to an outpatient university clinic, and to determine associated factors. A total of 129 consecutively referred ADHD patients aged 6-16 years. A detailed history of the children was obtained from their parents. The Kiddie-SADS-PL, the ADHD-Rating Scale, and the Clinical Global Impression Scale were used for clinical assessment. Mean diagnostic delay was 32.89 months. A previous suspicion of ADHD by any health care professional, therapist or teacher was significantly associated with a reduced diagnostic delay. Co-morbidity with anxiety/depressive disorders and previous contact with a mental health professional were associated with a significant delay in diagnosis. Delay in diagnosis of ADHD in France is among the longest reported. Children with co-morbid anxiety or depressive disorders are particularly at risk of having a significant delay in the diagnosis. Health professionals, therapists and teachers may play a relevant role to accelerate the diagnostic procedure.

  3. A commentary on the role of molecular technology and automation in clinical diagnostics

    Science.gov (United States)

    O’Connor, Ciara; Fitzgibbon, Marie; Powell, James; Barron, Denis; O’Mahony, Jim; Power, Lorraine; O’Connell, Nuala H; Dunne, Colum

    2014-01-01

    Historically, the identification of bacterial or yeast isolates has been based on phenotypic characteristics such as growth on defined media, colony morphology, Gram stain, and various biochemical reactions, with significant delay in diagnosis. Clinical microbiology as a medical specialty has embraced advances in molecular technology for rapid species identification with broad-range 16S rDNA polymerase chain reaction (PCR) and matrix-assisted laser desorption and/or ionization time of flight (MALDI-TOF) mass spectrometry demonstrated as accurate, rapid, and cost-effective methods for the identification of most, but not all, bacteria and yeasts. Protracted conventional incubation times previously necessary to identify certain species have been mitigated, affording patients quicker diagnosis with associated reduction in exposure to empiric broad-spectrum antimicrobial therapy and shortened hospital stay. This short commentary details such molecular advances and their implications in the clinical microbiology setting. PMID:24658184

  4. Cutaneous Granular Cell Tumor of the Breast: A Clinical Diagnostic Pitfall

    Science.gov (United States)

    Aneiros-Fernandez, Jose; Arias-Santiago, Salvador; Husein-ElAhmed, Husein; OValle, Francisco; Siendones, Maria Ines Aroca; Aneiros-Cachaza, Jose

    2010-01-01

    We report the clinical-morphological study of a granular cell tumor in dermal/hypodermal junction and subcutaneous fat left breast of an 83-year-old woman with a family history of breast carcinoma. Mammography study showed a spiculated lesion in the lower inner quadrant with suspicion of malignancy. The results of fine needle puncture-aspiration were inconclusive. Subsequent tumorectomy revealed a poorly-defined indurated lesion of 1.1 × 0.7 cm. The histopathology study showed a proliferation of cells with ample and granular cytoplasm that were positive for S100, CD 68 and inhibin and negative for hormonal receptors. We present a benign lesion that clinically reproduces a breast carcinoma. Keywords Granular cell tumor; Breast; Differential diagnosis; Cutaneous PMID:21629537

  5. Clinical decision support systems for improving diagnostic accuracy and achieving precision medicine.

    Science.gov (United States)

    Castaneda, Christian; Nalley, Kip; Mannion, Ciaran; Bhattacharyya, Pritish; Blake, Patrick; Pecora, Andrew; Goy, Andre; Suh, K Stephen

    2015-01-01

    As research laboratories and clinics collaborate to achieve precision medicine, both communities are required to understand mandated electronic health/medical record (EHR/EMR) initiatives that will be fully implemented in all clinics in the United States by 2015. Stakeholders will need to evaluate current record keeping practices and optimize and standardize methodologies to capture nearly all information in digital format. Collaborative efforts from academic and industry sectors are crucial to achieving higher efficacy in patient care while minimizing costs. Currently existing digitized data and information are present in multiple formats and are largely unstructured. In the absence of a universally accepted management system, departments and institutions continue to generate silos of information. As a result, invaluable and newly discovered knowledge is difficult to access. To accelerate biomedical research and reduce healthcare costs, clinical and bioinformatics systems must employ common data elements to create structured annotation forms enabling laboratories and clinics to capture sharable data in real time. Conversion of these datasets to knowable information should be a routine institutionalized process. New scientific knowledge and clinical discoveries can be shared via integrated knowledge environments defined by flexible data models and extensive use of standards, ontologies, vocabularies, and thesauri. In the clinical setting, aggregated knowledge must be displayed in user-friendly formats so that physicians, non-technical laboratory personnel, nurses, data/research coordinators, and end-users can enter data, access information, and understand the output. The effort to connect astronomical numbers of data points, including '-omics'-based molecular data, individual genome sequences, experimental data, patient clinical phenotypes, and follow-up data is a monumental task. Roadblocks to this vision of integration and interoperability include ethical, legal

  6. [DSM-5 AND AUTISM: DIAGNOSTIC CHANGES AND CLINICAL IMPLICATIONS IN EARLY CHILDHOOD].

    Science.gov (United States)

    Faroy, Michal; Meiri, Gal; Arbelle, Shoshana

    2016-05-01

    Autistic spectrum disorders (ASDs) are characterized by significant disability in interpersonal communication, social interactions and patterns of unusual behavior. In recent decades the worldwide prevalence of ASDs is rising almost exponentially, without a clear known etiological explanation. Until recently, ASDs were defined by the American Manual of Psychiatric Diagnoses: The DSM-IV-TR, under one conceptual umbrella of "Pervasive Developmental Disorders" (PDD). Under this category, there were five separate diagnoses. The DSM-5 eliminated the separate,diagnoses and created one continuum (Autism Spectrum Disorder = ASD). By this definition, the symptomatic manifestation was reduced and the criteria for diagnosis are fixed for the entire spectrum. The differences between individuals are expressed in the levels of severity rated. Studies evaluating the transition from PDD to ASD, found an increase in the specificity of the diagnosis and its potential ability to distinguish between clinical and non-clinical populations. Alongside the increase in consistency and stability, there is a decrease in sensitivity, and about a quarter of the children who were previously diagnosed with PDD are not diagnosed as such, due to a failure to meet all the necessary symptoms. These changes especially affect the clinical diagnosis of young children as their symptomatic manifestation is not yet clear and distinct enough due to their age and maturation processes. This article discusses the clinical implications of these findings and demonstrates it from a case report.

  7. Clinical and diagnostic importance of changes of colon at chronic prostatitis

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    V.M. Popkov

    2010-06-01

    Full Text Available The aim of researches was studying clinical, microbiological and morphological characteristic of colon at patients at chronic prostatitis, definition of method of pathogenetic therapy on the basis of the received results. Material and methods of investigation. 50 patients at chronic bacterial prostatitis, 50 patients at asymptomatic inflammatory prostatitis and 30 practically healthy males were inspected. Microflora of prostata's secret and colon, morphology and structure of components of diffuse neuroendocrine system of colon were studied. Clinical, microbiological, иммуногистохимические methods and morphometrical analysis were applied. Results. It is defined, that at 74% patients with asymptomatic inflammatory prostatitis irritable bowel syndrome and at 26% - chronic nonulcerative colitis were diagnosed. At all patients at chronic bacterial prostatitis chronic nonulcerative colitis were detected. These variants were correlleted with different types of intestinal dysbiosis and degree of microbe producing of prostate. Use probiotic Bactistatin® at patients with a chronic prostatitis raises clinical efficiency of antibacterial therapy, promotes reduction of inflammatory changes, restoration of its microbic landscape and neuroendocrine homeostasis of colon. inclusion. At chronic prostatitis structural and functional pathology of colon are often registered, they are connected with clinical variant of prostatitis and can mask of prostata's pathology. Using Bactistatin® at patients with a chronic prostatitis is proved and effective

  8. Hamartoma: Diagnostic Procedure of Unspecific Clinical Appearance in the Oral Cavity

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    Ahmad Ronal

    2012-12-01

    Full Text Available Hamartoma is a benign tumor-like lesion composed of overgrowth of mature cells and tissues. Along with its unspecific appearance, it may occur in the oral cavity and bear resemblance to the other lesions. In this report we describes the clini-cal appearance of hamartoma as well as the diagnosis method in the case of a 37-year-old-man. The patient explained that he already has redness plaque lesion on his skin left cheek region since he was born. The lesion was sensed to grow and discomfort at the age of 22. A surgical therapy had been performed to reduce the size of lesion one year after, but the red-ness plaque still existed. Thirteen years following the operation, white lesion appeared on the inner left cheek 10 x 8.5 x 6 cm of size and extended onto lower lips within half a year. Diagnostic procedure was carried out such as biopsy, CT-scan and radiography with neuroma as an initial conclusion. New histopathological examination confirmed the diagnosis of hamartoma. It is concluded that adequate and appropriate biopsy procedure along with sufficient clinical information are needed to develop a proper diagnosis to distinguish hamartoma from other oral lesions.DOI: 10.14693/jdi.v17i3.38

  9. [Tick-borne rickettsioses in the Americas: clinical and epidemiological advances, and diagnostic challenges].

    Science.gov (United States)

    Hidalgo, Marylin; Faccini-Martínez, Álvaro A; Valbuena, Gustavo

    2013-09-01

    Rickettsioses are a group of zoonotic diseases caused by strict intracellular bacteria of the genus Rickettsia and Orientia which belong to the Rickettsiaceae family. Their ecology is influenced by environmental factors and the presence of specific vectors that determine the establishment and epidemiology in different world regions. In America, during the 20 th century, only three of these diseases were recognized: Rocky Mountain spotted fever, epidemic typhus and endemic typhus. However, since 2000, more than 10 different species that had previously been unknown in this continent have been described, both in arthropods and in clinical cases, fact that classifies them as emerging and re-emerging diseases. Given the clinical manifestations of the diseases caused by rickettsias, being the majority unspecific and, therefore, shared with other infectious diseases, especially viral and bacterial, they have been framed within the differential diagnoses of acute febrile syndrome in urban and tropical areas. Nowadays, there are direct and indirect diagnostic methods, which are useful in the definition of the infectious agent, in this case, the cause of rickettsioses.

  10. Machine Learning approaches on Diagnostic Term Encoding with the ICD for Clinical Documentation.

    Science.gov (United States)

    Atutxa, Aitziber; Perez, Alicia; Casillas, Arantza

    2017-08-24

    This work focuses on data mining applied to the clinical documentation domain. Diagnostic Terms (DTs) are used as keywords to retrieve valuable information from Electronic Health Records (EHRs). Indeed, they are encoded manually by experts following the International Classification of Diseases (ICD). The goal of this work is to explore the aid of text mining on DT encoding. From the machine learning (ML) perspective, this is a high-dimensional classification task, as it comprises thousands of codes. This work delves into a robust representation of the instances to improve ML results. The proposed system is able to find the right ICD-code among more than 1,500 possible ICD-codes with 92% precision for the main disease (primary class) and 88% for the main disease together with the non-essential modifiers (fully-specified class). The methodology employed is simple and portable. According to the experts from public hospitals, the system is very useful in particular for documentation and pharmaco-surveillance services. In fact, they reported an accuracy of 91.2% on a small randomly extracted test. Hence, together with this paper, we made the software publicly available in order to help the clinical and research community.

  11. Takotsubo cardiomyopathy systematic review: Pathophysiologic process, clinical presentation and diagnostic approach to Takotsubo cardiomyopathy.

    Science.gov (United States)

    Ono, Ryohei; Falcão, L Menezes

    2016-04-15

    Takotsubo cardiomyopathy (TTC) is characterized by transient left ventricular apical ballooning with the absence of coronary occlusion, which typically occurs in older women after emotional or physical stress. The pathophysiology of TTC is not well established, though several possible causes such as catecholamine cardiotoxicity, metabolic disturbance, coronary microvascular impairment and multivessel epicardial coronary artery spasm have been proposed. A number of diagnostic criteria have been suggested in the world and not unified as single, but the most common accepted one is Mayo Clinic proposed criteria. Since the clinical presentation of TTC is usually similar to acute coronary syndrome, differential diagnosis is essential to exclude other diseases and also for its treatment. Imaging modality including echocardiogram, angio CT and cardiac MRI, and lab tests for catecholamine, troponin T, creatine kinase MB and B-type natriuretic peptide can be useful to differentiate TTC from other diseases. Prognosis is generally favorable and in-hospital mortality is from 0% to within 10%. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  12. The clinical features and diagnostic value of CT in Fahr’s disease

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    Wei-dong Hu

    2013-11-01

    Full Text Available Objectives:  To study the clinical features and diagnostic value of CT in Fahr’s disease. Methods:  We retrospectively analyzed skull images of 8,000 cases and observed the incidence and imaging characteristics of Fahr’s disease. Results: Fahr’s disease were found in 6 patients (6/4000=0.075%whose ages ranged from 16 to 62 years (average age:38.5±6.4years. We found that 6 Fahr’s disease had been incidentally detected in 4 men(4/6=66.7% and 2 women(2/6=33.4%; serum calcium:2.13~2.42 mmol/L,serum phosphor:1.0~1.6 mmol/L.The most common CT feature of Fahr’s disease is the presence of small bilateral intracranial calcifications which are usually restricted to the bilateral globus pallidus, putamen, caudate nucleus, thalamus, dentate nucleus and white matter of the cerebral hemispheres. Conclusions: Combined with clinical manifestations and imaging features, we can make a clear diagnosis of the Fahr’s disease.

  13. Diagnostic and clinical observation on the infectious bronchitis virus strain Q1 in Italy

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    Anna Toffan

    2013-12-01

    Full Text Available This paper describes the diagnostic and clinical observations of an infectious bronchitis virus (IBV variant, referred to as Q1, in clinically ill chickens in Italy. This IBV variant was described for the first time in 1998 in China. In the autumn of 2011 it caused a small-scale epidemic in non-vaccinated meat chickens in farms located in Northern Italy. The disease was characterized by increased mortality, kidney lesions and proventriculitis. Histopatological observations confirmed the nephritis and described an unusual erosive/necrotic proventriculitis with infiltration of lymphocytes, plasma cells and heterophils, as well as fibroplasia in the lamina propria. Despite these findings and the isolation of the Q1 IB virus directly from proventricular tissue, further studies are necessary to confirm the role of this IBV strain in the development of proventricular lesions. Phylogenetic analysis revealed that all the IBV isolates were very similar and probably had a common origin. The IBV Q1 variant appears to be now endemic in the North of Italy and at times it is detected in vaccinated backyard and commercial broiler farms. The importance of continuous monitoring in controlling the spread of known or emerging IBV variants is underlined.

  14. Biofluid infrared spectro-diagnostics: pre-analytical considerations for clinical applications.

    Science.gov (United States)

    Lovergne, L; Bouzy, P; Untereiner, V; Garnotel, R; Baker, M J; Thiéfin, G; Sockalingum, G D

    2016-06-23

    Several proof-of-concept studies on the vibrational spectroscopy of biofluids have demonstrated that the methodology has promising potential as a clinical diagnostic tool. However, these studies also show that there is a lack of a standardised protocol in sample handling and preparation prior to spectroscopic analysis. One of the most important sources of analytical errors is the pre-analytical phase. For the technique to be translated into clinics, it is clear that a very strict protocol needs to be established for such biological samples. This study focuses on some of the aspects of the pre-analytical phase in the development of the high-throughput Fourier Transform Infrared (FTIR) spectroscopy of some of the most common biofluids such as serum, plasma and bile. Pre-analytical considerations that can impact either the samples (solvents, anti-coagulants, freeze-thaw cycles…) and/or spectroscopic analysis (sample preparation such as drying, deposit methods, volumes, substrates, operators dependence…) and consequently the quality and the reproducibility of spectral data will be discussed in this report.

  15. The challenge of Clostridium difficile infection: Overview of clinical manifestations, diagnostic tools and therapeutic options.

    Science.gov (United States)

    Postma, Nynke; Kiers, Dorien; Pickkers, Peter

    2015-12-01

    The most important infectious cause of antibiotic-associated diarrhoea and colitis is Clostridium difficile, which is a Gram-positive, anaerobic, spore-forming, toxin-producing bacillus. In this overview we will discuss the diagnostic and therapeutic management of patients presenting with suspected or proven C. difficile infection (CDI). The clinical spectrum varies from asymptomatic C. difficile carriers to fulminant colitis with multi-organ failure. The onset of symptoms is usually within 2 weeks after initiation of antibiotic treatment. Diagnosis is based on the combination of clinical symptoms and either a positive stool test for C. difficile toxins or endoscopic or histological findings of pseudomembranous colitis. There is no indication for treatment of asymptomatic carriers, but patients with proven CDI should be treated. Treatment consists of cessation of the provoking antibiotic treatment, secondary prevention by infection control strategies, and treatment with metronidazole or vancomycin. Treatment of recurring CDI, severe infection, the need for surgery, and novel alternative potential treatment strategies will be discussed. The concurrent increase in multiresistant colonisation and increasing numbers of asymptomatic carriers of C. difficile will lead to an increase of the situation in which patients with severe infections, treated with broad-spectrum antibiotics, will develop concurrent severe CDI. We will discuss possible therapy strategies for these patients.

  16. The Autism Diagnostic Observation Schedule, Module 4: Application of the Revised Algorithms in an Independent, Well-Defined, Dutch Sample (N = 93)

    Science.gov (United States)

    de Bildt, Annelies; Sytema, Sjoerd; Meffert, Harma; Bastiaansen, Jojanneke A. C. J.

    2016-01-01

    This study examined the discriminative ability of the revised Autism Diagnostic Observation Schedule module 4 algorithm (Hus and Lord in "J Autism Dev Disord" 44(8):1996-2012, 2014) in 93 Dutch males with Autism Spectrum Disorder (ASD), schizophrenia, psychopathy or controls. Discriminative ability of the revised algorithm ASD cut-off…

  17. [The quality management in clinical diagnostic laboratory in conditions of the Federal Center of traumatology, orthopedics and endoprosthesis replacement of Minzdrav of Russia (Cheboksary)].

    Science.gov (United States)

    Nikolaev, N S; Nazarova, V V; Dobrovol'skaia, N Iu; Orlova, A V; Pchelova, N N

    2014-10-01

    The article presents experience of clinical diagnostic laboratory of the Federal Center of traumatology, orthopedics and endoprosthesis replacement of Minzdrav of Russia (Cheboksary) in the area of quality management of medical laboratory services on the basis of evaluation of efficacy and effectiveness of processes. The factors effecting quality of functioning of clinical diagnostic laboratory are indicated. The criteria and indicators of efficacy of work of employees of clinical diagnostic laboratory are presented.

  18. The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.

    Directory of Open Access Journals (Sweden)

    Hansook Kim Chong

    Full Text Available Breast cancer is the most commonly diagnosed cancer in women, with 10% of disease attributed to hereditary factors. Although BRCA1 and BRCA2 account for a high percentage of hereditary cases, there are more than 25 susceptibility genes that differentially impact the risk for breast cancer. Traditionally, germline testing for breast cancer was performed by Sanger dideoxy terminator sequencing in a reflexive manner, beginning with BRCA1 and BRCA2. The introduction of next-generation sequencing (NGS has enabled the simultaneous testing of all genes implicated in breast cancer resulting in diagnostic labs offering large, comprehensive gene panels. However, some physicians prefer to only test for those genes in which established surveillance and treatment protocol exists. The NGS based BRCAplus test utilizes a custom tiled PCR based target enrichment design and bioinformatics pipeline coupled with array comparative genomic hybridization (aCGH to identify mutations in the six high-risk genes: BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11. Validation of the assay with 250 previously characterized samples resulted in 100% detection of 3,025 known variants and analytical specificity of 99.99%. Analysis of the clinical performance of the first 3,000 BRCAplus samples referred for testing revealed an average coverage greater than 9,000X per target base pair resulting in excellent specificity and the sensitivity to detect low level mosaicism and allele-drop out. The unique design of the assay enabled the detection of pathogenic mutations missed by previous testing. With the abundance of NGS diagnostic tests being released, it is essential that clinicians understand the advantages and limitations of different test designs.

  19. Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

    Directory of Open Access Journals (Sweden)

    Joakim Crona

    Full Text Available Recent studies have demonstrated equal quality of targeted next generation sequencing (NGS compared to Sanger Sequencing. Whereas these novel sequencing processes have a validated robust performance, choice of enrichment method and different available bioinformatic software as reliable analysis tool needs to be further investigated in a diagnostic setting.DNA from 21 patients with genetic variants in SDHB, VHL, EPAS1, RET, (n=17 or clinical criteria of NF1 syndrome (n=4 were included. Targeted NGS was performed using Truseq custom amplicon enrichment sequenced on an Illumina MiSEQ instrument. Results were analysed in parallel using three different bioinformatics pipelines; (1 Commercially available MiSEQ Reporter, fully automatized and integrated software, (2 CLC Genomics Workbench, graphical interface based software, also commercially available, and ICP (3 an in-house scripted custom bioinformatic tool.A tenfold read coverage was achieved in between 95-98% of targeted bases. All workflows had alignment of reads to SDHA and NF1 pseudogenes. Compared to Sanger sequencing, variant calling revealed a sensitivity ranging from 83 to 100% and a specificity of 99.9-100%. Only MiSEQ reporter identified all pathogenic variants in both sequencing runs.We conclude that targeted next generation sequencing have equal quality compared to Sanger sequencing. Enrichment specificity and the bioinformatic performance need to be carefully assessed in a diagnostic setting. As acceptable accuracy was noted for a fully automated bioinformatic workflow, we suggest that processing of NGS data could be performed without expert bioinformatics skills utilizing already existing commercially available bioinformatics tools.

  20. Treatment outcomes in a graduate orthodontic clinic for cases defined by the American Board of Orthodontics malocclusion categories.

    Science.gov (United States)

    Campbell, Charee L; Roberts, W Eugene; Hartsfield, James K; Qi, Rong

    2007-12-01

    The American Board of Orthodontics (ABO) discrepancy index (DI) quantifies the severity of a malocclusion. The ABO objective grading system (OGS) assesses the quality of orthodontic finishing. Indiana University's comprehensive clinical assessment (CCA) supplements the OGS to provide an instrument to determine clinical outcomes. The purposes of this article were to (1) determine whether treatment outcome is related to the type of malocclusion as defined by the ABO classification, (2) determine the fraction of finished orthodontic cases in the graduate orthodontics clinic that are within the ABO standards for passing the phase III clinical examination, (3) evaluate the contribution of each component of the OGS and the CCA to the total OGS and CCA scores, (4) determine the percentage of finished cases that meet the ABO case category specifications, and (5) identify problem areas to improve the quality of treatment for challenging malocclusions. Three hundred eighty-two cases that satisfied requirements for 8 of the ABO's malocclusion categories were selected from 989 consecutively finished cases from 1998 through 2003. They were evaluated by using the OGS, the CCA, and the DI. The average OGS score was 32.64, the average CCA score was 5.62, and the average DI score was 20.94. There was no significant difference in the OGS and the CCA scores among the categories. Categories 2, 5, 7, and 8 had a DI score that was significantly higher than the average for the entire sample. The OGS and CCA scores were positively correlated with the DI score, meaning that complex malocclusions are challenging to finish well. The most points lost for the OGS and the CCA were for occlusal contacts and treatment efficiency (length of treatment relative to the result), respectively. The fewest points lost were for interproximal contacts and vertical control, respectively. Furthermore, prematurely terminated cases (early debonds) had longer treatment times and higher (worse) OGS and CCA

  1. Win on Sunday, Sell on Monday: From the Exome Sequencing of One Boy to the Delivery of Clinical Diagnostics

    Science.gov (United States)

    Tschannen, M.R.

    2011-01-01

    For several years, there have been discussions about using both Sanger and whole genome sequencing in clinical practice. In late 2009, the Medical College of Wisconsin initiated the infrastructure to streamline the delivery of current and emerging DNA technologies into state-of-the-art molecular diagnostics. The online publication of our initial case in Genetics of Medicine in late 2010 further intensified our efforts in this endeavor. However, being relatively new to the field of NextGen sequencing, we began with the addition of Sanger diagnostic sequencing to our already successful research core, which at that point had been in operation for almost ten years. This was a great undertaking, as typically, independent research laboratories performing cutting-edge science lack the financial resources and breadth of experience to launch their custom product or application to the diagnostic industry. An independent research laboratory is able to resolve these shortages by partnering with a core laboratory staffed with diagnostic expertise. Due to our lack of diagnostic experience, we quickly aligned the research core to a consortium of individuals with clinical experience to allow us to benefit from established diagnostic facilities on campus. Difficulties faced at the onset of diagnostic startup were many, including large issues such as accreditation program (CAP vs. CLIA), SOP generation and validation, competency and proficiency testing, and reimbursement, as well as smaller problems like semiannual pipette calibration, temperature monitoring, and inventory control. The purpose of this talk is to give insight into efficient ways to resolve these problems, both large and small, and transform a decade or more of research expertise into a viable diagnostic laboratory.

  2. Diagnostic clinical and laboratory findings in response to predetermining bacterial pathogen: data from the Meningitis Registry.

    Directory of Open Access Journals (Sweden)

    Maria Karanika

    Full Text Available BACKGROUND: Childhood meningitis continues to be an important cause of mortality in many countries. The search for rapid diagnosis of acute bacterial meningitis has lead to the further exploration of prognostic factors. This study was scheduled in an attempt to analyze various clinical symptoms as well as rapid laboratory results and provide an algorithm for the prediction of specific bacterial aetiology of childhood bacterial meningitis. METHODOLOGY AND PRINCIPAL FINDINGS: During the 32 year period, 2477 cases of probable bacterial meningitis (BM were collected from the Meningitis Registry (MR. Analysis was performed on a total of 1331 confirmed bacterial meningitis cases of patients aged 1 month to 14 years. Data was analysed using EPI INFO (version 3.4.3-CDC-Atlanta and SPSS (version 15.0-Chicago software. Statistically significant (p or = 15000/microL (OR 2.19 with a PPV of 77.8% (95%CI 40.0-97.2. For the diagnosis of Haemophilus influenzae, the most significant group of diagnostic criteria included, absence of haemorrhagic rash (OR 13.61, age > or = 1 year (OR 2.04, absence of headache (OR 3.01, CSF Glu < 40 mg/dL (OR 3.62 and peripheral WBC < 15,000/microL (OR 1.74 with a PPV of 58.5% (95%CI 42.1-73.7. CONCLUSIONS: The use of clinical and laboratory predictors for the assessment of the causative bacterial pathogen rather than just for predicting outcome of mortality seems to be a useful tool in the clinical management and specific treatment of BM. These findings should be further explored and studied.

  3. The diagnostic validity of clinical airway assessments for predicting difficult laryngoscopy using a grey zone approach.

    Science.gov (United States)

    Min, Jeong Jin; Kim, Gahyun; Kim, Eunhee; Lee, Jong-Hwan

    2016-08-01

    The diagnostic validity of clinical airway assessment tests for predicting difficult laryngoscopy in patients requiring endotracheal intubation were evaluated using receiver operating characteristic (ROC) curve analysis and a grey zone approach. In this prospective observational study, patients were evaluated during a pre-anaesthetic visit. Predictive airway assessment tests (i.e. Modified Mallampati [MMT] classification; upper lip bite test [ULBT]; mouth opening; sternomental distance; thyromental distance [TMD]; neck circumference; neck mobility; height to thyromental distance [HT/TMD]; neck circumference-to-thyromental distance [NC/TMD]) were performed on each patient and LEMON, Naguib, and MACOCHA scores were also calculated. In addition, laryngeal images were acquired and assessed for percentage of glottic opening (POGO) scores. A POGO score of zero was categorized as difficult laryngoscopy. The incidence of difficult laryngoscopy was 14.4% (35/243). Although seven predictive airway assessments (i.e. MMT classification, ULBT, mouth opening, HT/TMD, NC/TMD, and the LEMON and Naguib models) predicted difficult laryngoscopy by ROC analyses, a grey zone approach showed that the parameters were inconclusive in approximately 70% of patients. From all the tests, the HT/TMD ratio showed the highest sensitivity (80.0%) and ULBT had the highest specificity (95.2%). Using the grey zone approach, all predictive airway assessment tests showed large inconclusive zones which may explain previous inconsistent results in the prediction of difficult laryngoscopy. Our results suggest that the usefulness of clinical airway evaluation tests for predicting difficult laryngoscopy remains controversial. ClinicalTrials.gov (NCT01719848). © The Author(s) 2016.

  4. 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

  5. Patent ductus arteriosus: peculiarities of early neonatal, postnatal diagnostics, clinical manifestations, treatment and prognosis

    Directory of Open Access Journals (Sweden)

    K.A. Kalashnikova

    2017-05-01

    Full Text Available The article presents the published data on the prevalence, the main clinical manifestations, and modern methods of early neonatal and postnatal diagnosis, treatment and prognosis of patent ductus arteriosus — the congenital malformation of cardiovascular system. The International Statistical Classification of Diseases version10 defines it Q25.0 Patent ductus arteriosus. Patent ductus Botalli. Botallo’s duct patency. The pre-valence of the patent ductus arteriosus is from 0.006 to 0.02 % in mature newborns, in premature newborns — from 15 to 80 %. Clinical manifestation of the malformation depends on its size, pulmonary pressure, and proportion of pulmonary and syste-mic circulation. One of the basic clinical signs of patent ductus arteriosus  is permanent eddy murmur  in II–III space along left sternal border. In newborns and infants and if severe pulmonary hypertension diastolic murmur can be absent while systolic and forced second sound on pulmonary artery, collapsing magnus pulse, increased pulse pressure are determined. Open ductus arteriosus is not determined auscultatory in low-weight premature children. The electrocardiograph reveals downloaded left ventricular. Echo-cardiograph images ductus arteriosis, increased left ventriclular, volume overload of left ventricular. Chest roentgenograms may reveal prominent pulmonary arterial markings, increased heart breadth due to hypertrophic left ventricular. Drug obliteration with indometacin is effective in newborns aged 2 weeks. The surgical indication is verified heart disease aged 6–12 months old. The appropriate age for surgical intervention is 2–5 years old.

  6. Rapid diagnostic tests versus clinical diagnosis for managing people with fever in malaria endemic settings.

    Science.gov (United States)

    Odaga, John; Sinclair, David; Lokong, Joseph A; Donegan, Sarah; Hopkins, Heidi; Garner, Paul

    2014-04-17

    In 2010, the World Health Organization recommended that all patients with suspected malaria are tested for malaria before treatment. In rural African settings light microscopy is often unavailable. Diagnosis has relied on detecting fever, and most people were given antimalarial drugs presumptively. Rapid diagnostic tests (RDTs) provide a point-of-care test that may improve management, particularly of people for whom the RDT excludes the diagnosis of malaria. To evaluate whether introducing RDTs into algorithms for diagnosing and treating people with fever improves health outcomes, reduces antimalarial prescribing, and is safe, compared to algorithms using clinical diagnosis. We searched the Cochrane Infectious Disease Group Specialized Register; CENTRAL (The Cochrane Library); MEDLINE; EMBASE; CINAHL; LILACS; and the metaRegister of Controlled Trials for eligible trials up to 10 January 2014. We contacted researchers in the field and reviewed the reference lists of all included trials to identify any additional trials. Individual or cluster randomized trials (RCTs) comparing RDT-supported algorithms and algorithms using clinical diagnosis alone for diagnosing and treating people with fever living in malaria-endemic settings. Two authors independently applied the inclusion criteria and extracted data. We combined data from individually and cluster RCTs using the generic inverse variance method. We presented all outcomes as risk ratios (RR) with 95% confidence intervals (CIs), and assessed the quality of evidence using the GRADE approach. We included seven trials, enrolling 17,505 people with fever or reported history of fever in this review; two individually randomized trials and five cluster randomized trials. All trials were conducted in rural African settings.In most trials the health workers diagnosing and treating malaria were nurses or clinical officers with less than one week of training in RDT supported diagnosis. Health worker prescribing adherence to RDT

  7. Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress

    NARCIS (Netherlands)

    Sie, A.S.; Prins, J.B.; Zelst-Stams, W.A.G. van; Veltman, J.A.; Feenstra, I.; Hoogerbrugge, N.

    2015-01-01

    The Radboud University Medical Center was among the first to implement two-step exome sequencing in clinical genetic diagnostics. This study is the first to evaluate patient experiences with gene panels based on exome sequencing, using quantified psychological variables: acceptance, psychological di

  8. Symptoms, the Nature of Fibromyalgia, and Diagnostic and Statistical Manual 5 (DSM-5) Defined Mental Illness in Patients with Rheumatoid Arthritis and Fibromyalgia

    OpenAIRE

    2014-01-01

    PURPOSE: To describe and evaluate somatic symptoms in patients with rheumatoid arthritis (RA) and fibromyalgia, determine the relation between somatization syndromes and fibromyalgia, and evaluate symptom data in light of the Diagnostic and Statistical Manual-5 (DSM-5) criteria for somatic symptom disorder. METHODS: We administered the Patient Health Questionnaire-15 (PHQ-15), a measure of somatic symptom severity to 6,233 persons with fibromyalgia, RA, and osteoarthritis. PHQ-15 scores of 5,...

  9. Assessment Procedures for Narcissistic Personality Disorder: A Comparison of the Personality Diagnostic Questionnaire-4 and Best-Estimate Clinical Judgments

    OpenAIRE

    Miller, Joshua D.; Campbell, W. Keith; Pilkonis, Paul A.; Morse, Jennifer Q

    2008-01-01

    This study examined the degree of correspondence between two assessments for narcissistic personality disorder (NPD) in a mixed clinical and community sample—one using a self-report measure (Personality Diagnostic Questionnaire-4) and the other using clinical judgments derived from an assessment based on the longitudinal, expert, all data (LEAD) methodology. NPD scores demonstrated moderate convergence for the total scores but weak convergence for the individual criteria. The authors also exa...

  10. Diagnostic performance of neck circumference to identify overweight and obesity as defined by body mass index in children and adolescents: systematic review and meta-analysis.

    Science.gov (United States)

    Ma, Chunming; Wang, Rui; Liu, Yue; Lu, Qiang; Liu, Xiaoli; Yin, Fuzai

    2017-05-01

    The neck circumference (NC) has been shown to be an accurate index for screening overweight and obesity in children and adolescents. To perform a meta-analysis to assess the performance of NC for the assessment of overweight and obesity. Data sources were PubMed and EMBASE up to March 2016. Studies providing measures of diagnostic performance of NC and using body mass index as reference standard were included. Six eligible studies that evaluated 11 214 children and adolescents aged 6-18 years were included in the meta-analysis. NC showed pooled sensitivity to detect high body mass index of 0.780 (95% confidence interval [CI] = 0.765-0.794), specificity of 0.746 (95% CI =  0.736-0.756) and a diagnostic odds ratio of 17.343 (95% CI =  8.743-34.405). The NC had moderate diagnostic accuracy for identifying overweight and obesity in children and adolescents.

  11. DEFINING RELATIONAL PATHOLOGY IN EARLY CHILDHOOD: THE DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD DC:0-5 APPROACH.

    Science.gov (United States)

    Zeanah, Charles H; Lieberman, Alicia

    2016-09-01

    Infant mental health is explicitly relational in its focus, and therefore a diagnostic classification system for early childhood disorders should include attention not only to within-the-child psychopathology but also between child and caregiver psychopathology. In this article, we begin by providing a review of previous efforts to introduce this approach that date back more than 30 years. Next, we introduce changes proposed in the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood DC:0-5 (ZERO TO THREE, in press). In a major change from previous attempts, the DC:0-5 includes an Axis I "Relationship Specific Disorder of Early Childhood." This disorder intends to capture disordered behavior that is limited to one caregiver relationship rather than cross contextually. An axial characterization is continued from the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood DC:0-3R (ZERO TO THREE, 2005), but two major changes are introduced. First, the DC:0-5 proposes to simplify ratings of relationship adaptation/maladaptation, and to expand what is rated so that in addition to characterizing the child's relationship with his or her primary caregiver, there also is a characterization of the network of family relationships in which the child develops. This includes coparenting relationships and the entire network of close relationships that impinge on the young child's development and adaptation. © 2016 Michigan Association for Infant Mental Health.

  12. SEMIOTICS, DIAGNOSTICS AND THERAPY TACTICS OF DEPRESSIVE DISORDERS IN CLINICAL MEDICINE

    Directory of Open Access Journals (Sweden)

    N. A. Kornetov

    2014-01-01

    Full Text Available Study objectives are dedicated to brief synthesized establishment of diagnostics general standard, management and therapy of major depressive disorders (MDD in clinical medicine to provide education in medical practice.Study methods are based on short-term, medium-term and long-term educational programs in 24 Russian and Ukraine cities, which were based on original educational programs under the direction of World Psychiatric Association (WPA and International Committee For Prevention and Treatment of Depression (PTD. There, about 1450 doctors of different occupations were acquainted with the detection, management and treatment of MDD. The Russian version of WPA/PTD programs was created. The program of education included 4 modules. The Core module included an overview of the epidemiology, impact, concepts and classification, and etiology of depressive disorders as well as their recognition, diagnosis, and management in the primary care setting. The second module focused on depressive disorders in physical illness and covered those major illnesses for which is reasonable evidence for an association with depressive disorders. The third module included the development of the depressive disorders in older persons. The forth module included training physicians in mental health skills. 39 theme improvements for 858 primary care setting physicians within the framework of faculty training program of physicians’ development were the part of other programs of physicians’ occupations.Results. A number of highlights were included in the general algorithm of the educational programs. The creation of optimum «physician-depressive patient» contact demands a number of new skills to establish effective communication. These skills involve training of meeting of depressive patient and physician, the ability to follow a certain communication style; identify emotional, cognitive, psychomotor and nonverbal patterns of behavior. Besides that, the education

  13. Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

    Science.gov (United States)

    Amiet, Claire; Gourfinkel-An, Isabelle; Laurent, Claudine; Bodeau, Nicolas; Génin, Bérengère; Leguern, Eric; Tordjman, Sylvie; Cohen, David

    2013-12-01

    Autism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) and risk factors. Recent studies have suggested disparate clinical and genetic settings depending on simplex or multiplex autism. The aim of this study was to assess: 1) the prevalence of epilepsy in multiplex autism and its association with genetic and non-genetic risk factors of major effect, intellectual disability and gender; and 2) whether autism and epilepsy cosegregate within multiplex autism families. We extracted from the Autism Genetic Resource Exchange (AGRE) database (n = 3,818 children from 1,264 families) all families with relevant medical data (n = 664 children from 290 families). The sample included 478 children with ASD and 186 siblings without ASD. We analyzed the following variables: seizures, genetic and non-genetic risk factors, gender, and cognitive functioning as assessed by Raven's Colored Progressive Matrices (RCPM) and Vineland Adaptive Behavior Scales (VABS). The prevalence of epilepsy was 12.8% in cases with ASD and 2.2% in siblings without ASD (P VABS measure, the risk of epilepsy in multiplex autism was significantly associated with intellectual disability, but not with gender. Identified risk factors (genetic or non-genetic) of autism tended to be significantly associated with epilepsy (P = 0.052). When children with prematurity, pre- or perinatal insult, or cerebral palsy were excluded, a genetic risk factor was reported for 6/59 (10.2%) of children with epilepsy and 12/395 (3.0%) of children without epilepsy (P = 0.002). Finally, using a permutation test, there was significant evidence that the epilepsy phenotype co-segregated within families (P <10-4). Epilepsy in multiplex autism may define a different subgroup in terms of clinical characteristics and genetic risk.

  14. Developing a science of clinical utility in diagnostic classification systems field study strategies for ICD-11 mental and behavioral disorders.

    Science.gov (United States)

    Keeley, Jared W; Reed, Geoffrey M; Roberts, Michael C; Evans, Spencer C; Medina-Mora, María Elena; Robles, Rebeca; Rebello, Tahilia; Sharan, Pratap; Gureje, Oye; First, Michael B; Andrews, Howard F; Ayuso-Mateos, José Luís; Gaebel, Wolfgang; Zielasek, Juergen; Saxena, Shekhar

    2016-01-01

    The World Health Organization (WHO) Department of Mental Health and Substance Abuse has developed a systematic program of field studies to evaluate and improve the clinical utility of the proposed diagnostic guidelines for mental and behavioral disorders in the Eleventh Revision of the International Classification of Diseases and Related Health Problems (ICD-11). The clinical utility of a diagnostic classification is critical to its function as the interface between health encounters and health information, and to making the ICD-11 be a more effective tool for helping the WHO's 194 member countries, including the United States, reduce the global disease burden of mental disorders. This article describes the WHO's efforts to develop a science of clinical utility in regard to one of the two major classification systems for mental disorders. We present the rationale and methodologies for an integrated and complementary set of field study strategies, including large international surveys, formative field studies of the structure of clinicians' conceptualization of mental disorders, case-controlled field studies using experimental methodologies to evaluate the impact of proposed changes to the diagnostic guidelines on clinicians' diagnostic decision making, and ecological implementation field studies of clinical utility in the global settings in which the guidelines will ultimately be implemented. The results of these studies have already been used in making decisions about the structure and content of ICD-11. If clinical utility is indeed among the highest aims of diagnostic systems for mental disorders, as their developers routinely claim, future revision efforts should continue to build on these efforts. (PsycINFO Database Record

  15. Usefulness of clinical data and rapid diagnostic tests to identify bacterial etiology in adult respiratory infections

    Directory of Open Access Journals (Sweden)

    Pilar Toledano-Sierra

    2015-01-01

    Full Text Available Respiratory tract infections are a common complaint and most of them, such as common cold and laryngitis, are viral in origin, so antibiotic use should be exceptional. However, there are other respiratory tract infections (sinusitis, pharyngitis, lower respiratory tract infections, and exacerbations of chronic obstructive pulmonary disease where a bacterial etiology is responsible for a non-negligible percentage, and antibiotics are often empirically indicated. The aim of the study is to identify the strength of the data obtained from the symptoms, physical examination and rapid diagnostic methods in respiratory infections in which antibiotic use is frequently proposed in order to improve diagnosis and influence the decision to prescribe these drugs. The review concludes that history, physical examination and rapid tests are useful to guide the need for antibiotic treatment in diseases such as acute sinusitis, acute pharyngitis, exacerbation of lower respiratory tract infection and chronic obstructive pulmonary disease. However, no isolated data is accurate enough by itself to confirm or rule out the need for antibiotics. Therefore, clinical prediction rules bring together history and physical examination, thereby improving the accuracy of the decision to indicate or not antibiotics.

  16. Clinical Approach to the Standardization of Oriental Medical Diagnostic Pattern Identification in Stroke Patients

    Directory of Open Access Journals (Sweden)

    Han Jung Kim

    2011-01-01

    Full Text Available In Korea, many stroke patients receive oriental medical care, in which pattern-identification plays a major role. Pattern-identification is Oriental Medicine's unique diagnostic system. This study attempted to standardize oriental medical pattern-identification for stroke patients. This was a community-based multicenter study that enrolled stroke patients within 30 days after their ictus. We assessed the patients' general characteristics and symptoms related to pattern-identification. Each patient's pattern was determined when two doctors had the same opinion. To determine which variables affect the pattern-identification, binary logistic regression analysis was used with the backward method. A total of 806 stroke patients were enrolled. Among 480 patients who were identified as having a certain pattern, 100 patients exhibited the Fire Heat Pattern, 210 patients the Phlegm Dampness Pattern, nine patients the Blood Stasis Pattern, 110 patients the Qi Deficiency Pattern, and 51 patients the Yin Deficiency Pattern. After the regression analysis, the predictive logistic equations for the Fire Heat, Phlegm Dampness, Qi Deficiency, and Yin Deficiency patterns were determined. The Blood Stasis Pattern was omitted because the sample size was too small. Predictive logistic equations were suggested for four of the patterns. These criteria would be useful in determining each stroke patient's pattern in clinics. However, further studies with large samples are necessary to validate and confirm these criteria.

  17. Accounting for isotopic clustering in Fourier transform mass spectrometry data analysis for clinical diagnostic studies.

    Science.gov (United States)

    Kakourou, Alexia; Vach, Werner; Nicolardi, Simone; van der Burgt, Yuri; Mertens, Bart

    2016-10-01

    Mass spectrometry based clinical proteomics has emerged as a powerful tool for high-throughput protein profiling and biomarker discovery. Recent improvements in mass spectrometry technology have boosted the potential of proteomic studies in biomedical research. However, the complexity of the proteomic expression introduces new statistical challenges in summarizing and analyzing the acquired data. Statistical methods for optimally processing proteomic data are currently a growing field of research. In this paper we present simple, yet appropriate methods to preprocess, summarize and analyze high-throughput MALDI-FTICR mass spectrometry data, collected in a case-control fashion, while dealing with the statistical challenges that accompany such data. The known statistical properties of the isotopic distribution of the peptide molecules are used to preprocess the spectra and translate the proteomic expression into a condensed data set. Information on either the intensity level or the shape of the identified isotopic clusters is used to derive summary measures on which diagnostic rules for disease status allocation will be based. Results indicate that both the shape of the identified isotopic clusters and the overall intensity level carry information on the class outcome and can be used to predict the presence or absence of the disease.

  18. [The preoperative staging of rectal neoplasms: the clinical exam and diagnostic imaging].

    Science.gov (United States)

    Grande, M; Danza, F M

    1999-01-01

    The management of rectal cancer remains an important clinical problem. Although there was been great progress in surgical management, the survival of patients with locally advanced disease has not improved significantly during the past decades. Preoperative staging and evaluation of the risk of recurrence may help in the choice of operation. It is difficult for clinicians to quantify reliably with digital examination the degree of fixation of the tumor, and they usually cannot distinguish nodal metastases except in advanced cases. The more frequent overstaging of small tumors within one quadrant of the rectum is a major drawback of digital examination. Computed tomography and magnetic resonance seems to underestimate the extension of rectal tumors, but both can be helpful in selecting patients with advanced tumors for whom preoperative adjuvant treatment is being considered. Endoluminal ultrasound is superior in staging tumors confined to the rectal wall, but is not the ideal tool for staging: the results are examiner dependent, the field of vision in depth is limited, and stricturing tumors cannot be passed by the ultrasound transducer. Imaging diagnostic attendibility confirms the preeminent role of intraoperative exploration in the assessment of neoplastic diffusion in order to plan a correct surgical treatment.

  19. Changing clinical picture of endemic Burkitt’s lymphoma with improved diagnostic technology: A systematic review

    Directory of Open Access Journals (Sweden)

    Kamulegeya A

    2015-07-01

    Full Text Available We evaluated the changes in anatomical locations of endemic Burkitt’s lymphoma (eBL by systematic review. We compared the reports before ultrasound became a routine investigation in Burkitt’s lymphoma (BL diagnosis with those that used ultrasound as part of pre therapeutic diagnosis. Methods: All alternative match terms able to capture the anatomical distribution of eBL were used as search terms for two electronic databases, namely Medline and “Web of Science”. Only reports that had reasonable case load were considered for analysis. However the case reports and case series with five or less patients were not included. Results: Medline produced more systematic review identified reports. The search terms “endemic Burkitt lymphoma Africa” yielded the highest number of articles in both databases but had a low precision, at 3.5. Pattern of organ involvement Burkitt lymphoma Africa had a precision at 100%. Medline recalled 27 reports that were not recalled by the Web of Science. Generally it appears that studies that have relied on laparotomies, autopsies and ultrasound have reported a higher abdominal involvement in eBL than those using clinical examination and plain radiographs. This points to the possibility of missed abdominal involvement due to diagnostic techniques. Conclusion: the review confirms that as more Sub Saharan African (SSA countries incorporate US as a routine investigation in management of eBL, we are likely to see more abdominal disease with or without facial manifestation

  20. Optical diagnostics based on elastic scattering: An update of clinical demonstrations with the Optical Biopsy System

    Energy Technology Data Exchange (ETDEWEB)

    Bigio, I.J.; Boyer, J.; Johnson, T.M.; Lacey, J.; Mourant, J.R. [Los Alamos National Lab., NM (United States); Conn, R. [Lovelace Medical Center, Albuquerque, NM (United States); Bohorfoush, A. [Wisconsin Medical School, Milwaukee, WI (United States)

    1994-10-01

    The Los Alamos National Laboratory has continued the development of the Optical Biopsy System (OBS) for noninvasive, real-time in situ diagnosis of tissue pathologies. Our clinical studies have expanded since the last Biomedical Optics Europe conference (Budapest, September 1993), and we report here on the latest results of clinical tests in gastrointestinal tract. The OBS invokes a unique approach to optical diagnosis of tissue pathologies based on the elastic scattering properties, over a wide range of wavelengths, of the tissue. The use of elastic scattering as the key to optical tissue diagnostics in the OBS is based on the fact that many tissue pathologies, including a majority of cancer forms, manifest significant architectural changes at the cellular and sub-cellular level. Since the cellular components that cause elastic scattering have dimensions typically on the order of visible to near-IR wavelengths, the elastic (Mie) scattering properties will be wavelength dependent. Thus, morphology and size changes can be expected to cause significant changes in an optical signature that is derived from the wavelength-dependence of elastic scattering. The OBS employs a small fiberoptic probe that is amenable to use with any endoscope or catheter, or to direct surface examination. The probe is designed to be used in optical contact with the tissue under examination and has separate illuminating and collecting fibers. Thus, the light that is collected and transmitted to the analyzing spectrometer must first scatter through a small volume of the tissue before entering the collection fiber(s). Consequently, the system is also sensitive to the optical absorption spectrum of the tissue, over an effective operating range of <300 to 950 nm, and such absorption adds valuable complexity to the scattering spectral signature.

  1. Defining, navigating, and negotiating success: the experiences of mid-career Robert Wood Johnson Clinical Scholar women.

    Science.gov (United States)

    Kalet, Adina L; Fletcher, Kathlyn E; Ferdman, Dina J; Bickell, Nina A

    2006-09-01

    We studied female graduates of the Robert Wood Johnson Clinical Scholars Program (CSP, Class of 1984 to 1989) to explore and describe the complexity of creating balance in the life of mid-career academic woman physicians. We conducted and qualitatively analyzed (kappa 0.35 to 1.0 for theme identification among rater pairs) data from a semi-structured survey of 21 women and obtained their curricula vitae to quantify publications and grant support, measures of academic productivity. Sixteen of 21 (76%) women completed the survey. Mean age was 48 (range: 45 to 56). Three were full professors, 10 were associate professors, and 3 had left academic medicine. Eleven women had had children (mean 2.4; range: 1 to 3) and 3 worked part-time. From these data, the conceptual model expands on 3 key themes: (1) defining, navigating, and negotiating success, (2) making life work, and (3) making work work. The women who described themselves as satisfied with their careers (10/16) had clarity of values and goals and a sense of control over their time. Those less satisfied with their careers (6/16) emphasized the personal and professional costs of the struggle to balance their lives and described explicit institutional barriers to fulfillment of their potential. For this group of fellowship-prepared academic women physicians satisfaction is achieving professional and personal balance.

  2. The co-occurrence of Hashimoto thyroiditis in primary Sjogren's syndrome defines a subset of patients with milder clinical phenotype.

    Science.gov (United States)

    Caramaschi, Paola; Biasi, Domenico; Caimmi, Cristian; Scambi, Cinzia; Pieropan, Sara; Barausse, Giovanni; Adami, Silvano

    2013-05-01

    To evaluate in a cohort of 100 consecutive patients affected by primary Sjogren's syndrome (pSS) the incidence of Hashimoto thyroiditis (HT) and to compare the clinical features and the laboratory parameters of patients affected by pSS with and without concomitant HT. In 100 consecutive patients affected by pSS, the occurrence of other autoimmune diseases was recorded and a full examination of thyroid function obtained. HT was associated with pSS in 27 cases. The comparison between pSS cases with and without HT showed that only patients with isolated pSS had low C4 level [p = 0.032, OR (IC 95 %) 230 (13.13-4,046)]. In addition, only patients affected by pSS without HT had evidence of cryoglobulins, cutaneous vasculitis with palpable purpura, peripheral neuropathy, and development of lymphoma, although all these manifestations were observed in a 4.1-8.2 % of the cases, without reaching statistical significance. The association of HT in patients suffering from pSS defines a subset of patients with milder disease and normal C4 levels.

  3. The Eating Disorder Diagnostic Scale: psychometric features within a clinical population and a cut-off point to differentiate clinical patients from healthy controls

    NARCIS (Netherlands)

    Krabbenborg, M.A.M.; Danner, U.N.; Larsen, J.K.; Veer, N. van der; Elburg, A.A. van; Ridder, D.T. de; Evers, C.; Stice, E.; Engels, R.C.E.M.

    2012-01-01

    The Eating Disorder Diagnostic Scale (EDDS) is a brief self-report measure for diagnosing anorexia nervosa, bulimia nervosa and binge eating disorder. Research has provided evidence of the reliability and validity of this scale in non-clinical populations. Our study is the first to examine the

  4. The Eating Disorder Diagnostic Scale: psychometric features within a clinical population and a cut-off point to differentiate clinical patients from healthy controls

    NARCIS (Netherlands)

    Krabbenborg, M.A.M.; Danner, U.N.; Larsen, J.K.; Veer, N. van der; Elburg, A.A. van; Ridder, D.T. de; Evers, C.; Stice, E.; Engels, R.C.E.M.

    2012-01-01

    The Eating Disorder Diagnostic Scale (EDDS) is a brief self-report measure for diagnosing anorexia nervosa, bulimia nervosa and binge eating disorder. Research has provided evidence of the reliability and validity of this scale in non-clinical populations. Our study is the first to examine the psych

  5. What, why, and when we image: considerations for diagnostic imaging and clinical research in the Children's Oncology Group

    Energy Technology Data Exchange (ETDEWEB)

    Reaman, Gregory H. [The George Washington University, School of Medicine and Health Sciences, Division of Hematology Oncology, Children' s National Medical Center, Washington, DC (United States)

    2009-02-15

    Success in improving treatment outcomes in childhood cancer has been achieved almost exclusively through multicenter and multidisciplinary clinical and applied research over several decades. While biologically rational as well as empirical approaches have led to combination chemotherapy and multimodality approaches to therapy, which have given rise to evidence-based practice standards, similar scientific rigor has not always been as evidently applied to modalities utilized to assess initial disease burden and, more important, response to investigational approaches to therapy. As the empirical approach to therapeutic advances has likely maximized its benefit, future progress will require translation of biologic discovery most notably from the areas of genomics and proteomics. Hence, attempts to improve efficacy of therapy will require a parallel effort to minimize collateral damage of future therapeutic approaches, and such a parallel approach will mandate the continued dependence on advances in diagnostic imaging for improvements in staging methodologies to best define risk groups for risk-adjusted therapy. In addition, anatomic and functional assessment of response and surveillance for disease recurrence will require improved understanding of the biology as well as natural history of individual diseases, which one hopes will better inform investigators in designing trials. Clinical and research expertise is urgently needed in the selection of specific imaging studies and frequencies that best assess a response as well as to define disease-free intervals. Despite limited resources to develop sufficient infrastructure, emphasis on enabling early assessment of new technology to minimize risks associated with treatment advances and with those critical diagnostic and staging procedures must continue to be a focus of pediatric cancer clinical research. (orig.)

  6. Mutational profiles in triple-negative breast cancer defined by ultradeep multigene sequencing show high rates of PI3K pathway alterations and clinically relevant entity subgroup specific differences.

    Science.gov (United States)

    Kriegsmann, Mark; Endris, Volker; Wolf, Thomas; Pfarr, Nicole; Stenzinger, Albrecht; Loibl, Sibylle; Denkert, Carsten; Schneeweiss, Andreas; Budczies, Jan; Sinn, Peter; Weichert, Wilko

    2014-10-30

    Mutational profiling of triple-negative breast cancer (TNBC) by whole exome sequencing (WES) yielded a landscape of genomic alterations in this tumor entity. However, the clinical significance of these findings remains enigmatic. Further, integration of WES in routine diagnostics using formalin-fixed paraffin-embedded (FFPE) material is currently not feasible. Therefore, we designed and validated a breast cancer specific gene panel for semiconductor-based sequencing comprising 137 amplicons covering mutational hotspots in 44 genes and applied this panel on a cohort of 104 well-characterized FFPE TNBC with complete clinical follow-up. TP53 mutations were present in more than 80% of cases. PI3K pathway alterations (29.8%) comprising mainly PIK3CA mutations (22.1%) but also mutations and/or amplifications/deletions in other PI3K-associated genes (7.7%) were far more frequently observed, when compared to WES data. Alterations in MAPK signaling genes (8.7%) and cell-cycle regulators (14.4%) were also frequent. Mutational profiles were linked to TNBC subgroups defined by morphology and immunohistochemistry. Alterations in cell-cycle pathway regulators were linked with better overall (p=0.053) but not disease free survival. Taken together, we could demonstrate that breast cancer targeted hotspot sequencing is feasible in a routine setting and yields reliable and clinically meaningful results. Mutational spectra were linked to clinical and immunohistochemically defined parameters.

  7. Clinical relevance of the proposed sexual addiction diagnostic criteria: relation to the Sexual Addiction Screening Test-Revised.

    Science.gov (United States)

    Carnes, Patrick J; Hopkins, Tiffany A; Green, Bradley A

    2014-01-01

    The present article examines and compares the various diagnostic rubrics proposed to codify symptoms of sexual addiction, and then briefly summarizes the ongoing controversy on whether sexual addiction is a valid construct. Using the diagnostic criteria proposed by , the prevalence rate of each criterion is examined in terms of scores on the Sexual Addiction Screening Test-Revised scales (). Differences in diagnostic criteria endorsement associated with sex, sexual orientation, and setting were also explored. Results from a clinical sample of men and women seeking treatment for sexual addiction demonstrated clinical relevance of the criteria, in that all but 3 criteria are endorsed at more than 50% of participants screening positive for sexual addiction on the Sexual Addiction Screening Test-Revised. Sex differences were also noted for endorsement rates of several of the criteria. Finally, several proposed criteria may pose a higher clinical threshold and thus be utilized by clinicians to identify patients with increased pathology. Results are discussed in the context of existing diagnostic frameworks across etiological perspectives.

  8. Is There a Difference in Diagnostic Accuracy and Clinical Impact between Endoscopic Ultrasonography and Magnetic Resonance Cholangiopancreatography?

    DEFF Research Database (Denmark)

    Ainsworth, Alan Patrick; Rafaelsen, Søren Rafael; Wamberg, Peter;

    2003-01-01

    BACKGROUND AND STUDY AIMS: It is still unknown whether there is a difference in diagnostic accuracy and clinical impact between endoscopic ultrasonography (EUS) and magnetic resonance cholangiopancreatography (MRCP). PATIENTS AND METHODS: The test performance and potential clinical impact of EUS...... following EUS compared with 11 patients following MRCP ( P = 0.004). For the 57 patients with an intermediate probability of needing endoscopic therapy, EUS and MRCP would have spared 37 and 38 patients, respectively, from the need to have an ERCP. In 31 patients with a presumed low risk of needing...... endoscopic therapy, 30 and 29 patients would have been spared from ERCP had EUS and MRCP, respectively, been performed initially. CONCLUSIONS: There was no difference in the diagnostic accuracy and clinical impact between EUS and MRCP in the majority of the patients. The impact of EUS or MRCP on the ERCP...

  9. Clinical course and complications following diagnostic bronchoalveolar lavage in critically ill mechanically ventilated patients

    OpenAIRE

    Schnabel, R.M.; Velden, K. van der; Osinski, A; Rohde, G.; Roekaerts, P.M.H.J.; Bergmans, D C J J

    2015-01-01

    Background Flexible, fibreoptic bronchoscopy (FFB) and bronchoalveolar lavage (BAL) have been used for diagnostic purposes in critically ill ventilated patients. The additional diagnostic value compared to tracheal aspirations in ventilator-associated pneumonia (VAP) has been questioned. Nevertheless, BAL can provide extra information for the differential diagnosis of respiratory disease and good antibiotic stewardship. These benefits should outweigh potential hazards caused by the invasivene...

  10. Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) for Clinical and Research Applications

    DEFF Research Database (Denmark)

    Schiffman, Eric; Ohrbach, Richard; Truelove, Edmond

    2014-01-01

    AIMS: The original Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Axis I diagnostic algorithms have been demonstrated to be reliable. However, the Validation Project determined that the RDC/TMD Axis I validity was below the target sensitivity of ≥ 0.70 and specificity of ≥...

  11. Mobile teledermatology for skin tumour screening: diagnostic accuracy of clinical and dermoscopic image tele-evaluation using cellular phones.

    Science.gov (United States)

    Kroemer, S; Frühauf, J; Campbell, T M; Massone, C; Schwantzer, G; Soyer, H P; Hofmann-Wellenhof, R

    2011-05-01

    The ability to diagnose malignant skin tumours accurately and to distinguish them from benign lesions is vital in ensuring appropriate patient management. Little is known about the effects of mobile teledermatology services on diagnostic accuracy and their appropriateness for skin tumour surveillance. To evaluate the diagnostic accuracy of clinical and dermoscopic image tele-evaluation for mobile skin tumour screening. Over a 3-month period up to three clinical and dermoscopic images were obtained of 113 skin tumours from 88 patients using a mobile phone camera. Dermoscopic images were taken with a dermatoscope applied to the camera lens. Clinical and dermoscopic images of each lesion together with clinical information were separately teletransmitted for decision-making. Results were compared with those obtained by face-to-face examination and histopathology as the gold standard. A total of 322 clinical and 278 dermoscopic images were acquired; two (1%) clinical and 18 (6%) dermoscopic pictures were inadequate for decision-making. After excluding inadequate images, the majority of which were dermoscopic pictures, only 104 of the 113 skin tumours from 80 of 88 patients could be tele-evaluated. Among these 104 lesions, 25 (24%) benign nonmelanocytic, 15 (14%) benign melanocytic, 58 (56%) malignant nonmelanocytic and six (6%) malignant melanocytic lesions were identified. Clinical and dermoscopic tele-evaluations demonstrated strong concordance with the gold standard (κ = 0·84 for each) and similar high sensitivity and specificity for all diagnostic categories. With regard to the detailed diagnoses, clinical image tele-evaluation was superior to teledermoscopy resulting in 16 vs. 22 discordant cases. Clinical image tele-evaluation might be the method of choice for mobile tumour screening. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.

  12. DIAGNOSTIC IMAGING IN A DIRECT-ACCESS SPORTS PHYSICAL THERAPY CLINIC: A 2-YEAR RETROSPECTIVE PRACTICE ANALYSIS.

    Science.gov (United States)

    Crowell, Michael S; Dedekam, Erik A; Johnson, Michael R; Dembowski, Scott C; Westrick, Richard B; Goss, Donald L

    2016-10-01

    While advanced diagnostic imaging is a large contributor to the growth in health care costs, direct-access to physical therapy is associated with decreased rates of diagnostic imaging. No study has systematically evaluated with evidence-based criteria the appropriateness of advanced diagnostic imaging, including magnetic resonance imaging (MRI), when ordered by physical therapists. The primary purpose of this study was to describe the appropriateness of magnetic resonance imaging (MRI) or magnetic resonance arthrogram (MRA) exams ordered by physical therapists in a direct-access sports physical therapy clinic. Retrospective observational study of practice. Greater than 80% of advanced diagnostic imaging orders would have an American College of Radiology (ACR) Appropriateness Criteria rating of greater than 6, indicating an imaging order that is usually appropriate. A 2-year retrospective analysis identified 108 MRI/MRA examination orders from four physical therapists. A board-certified radiologist determined the appropriateness of each order based on ACR appropriateness criteria. The principal investigator and co-investigator radiologist assessed agreement between the clinical diagnosis and MRI/surgical findings. Knee (31%) and shoulder (25%) injuries were the most common. Overall, 55% of injuries were acute. The mean ACR rating was 7.7; scores from six to nine have been considered appropriate orders and higher ratings are better. The percentage of orders complying with ACR appropriateness criteria was 83.2%. Physical therapist's clinical diagnosis was confirmed by MRI/MRA findings in 64.8% of cases and was confirmed by surgical findings in 90% of cases. Physical therapists providing musculoskeletal primary care in a direct-access sports physical therapy clinic appropriately ordered advanced diagnostic imaging in over 80% of cases. Future research should prospectively compare physical therapist appropriateness and utilization to other groups of providers and

  13. Clinical comparison of human and canine atopic dermatitis using human diagnostic criteria (Japanese Dermatological Association, 2009): proposal of provisional diagnostic criteria for canine atopic dermatitis.

    Science.gov (United States)

    Terada, Yuri; Nagata, Masahiko; Murayama, Nobuo; Nanko, Hiroko; Furue, Masutaka

    2011-08-01

    Atopic dermatitis (AD) is a common skin disease encountered in both humans and dogs. Canine AD can be used in the analysis of naturally occurring AD; however, details of clinical comparison have been lacking. The purpose of this study is to compare those clinical features using the human diagnostic criteria (Japanese Dermatological Association, 2009). Fifty-one dogs with canine AD were evaluated by the human criteria. Prior to this study, canine AD was basically diagnosed by the fulfillment of two authentic canine AD criteria and a positive reaction against Dermatophagoides farinae in serum immunoglobulin E levels and/or in intradermal tests. Among the human AD criteria items, behavior corresponding to pruritus was observed in all 51 dogs. Skin lesions corresponding to eczematous dermatitis were seen in 50 dogs, and symmetrical distribution of skin lesions was noted in all 51 dogs. A chronic or chronically relapsing course was observed in 50 dogs. Based on these results, the concordance rate for the criteria was 96% (49/51). Differential diagnoses of AD were also investigated in the same manner. The concordance rate for the criteria was 0% (0/69) in scabies, 2% (1/50) in pyoderma, 0% (0/50) in demodicosis, 0% (0/9) in cutaneous lymphoma, 0% (0/2) in ichthyosis, 25% (2/7) in flea allergy, 48% (24/50) in seborrheic dermatitis and 75% (3/4) in food allergy. Canine AD is thus indicated as a valuable counterpart to human AD in clinical aspects. In addition, the human AD criteria could be applicable, with some modification, as provisional diagnostic criteria for canine AD.

  14. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.

    Science.gov (United States)

    Rombach, S M; Dekker, N; Bouwman, M G; Linthorst, G E; Zwinderman, A H; Wijburg, F A; Kuiper, S; Vd Bergh Weerman, M A; Groener, J E M; Poorthuis, B J; Hollak, C E M; Aerts, J M F G

    2010-09-01

    Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated plasma globotriaosylsphingosine (lysoGb3). The diagnostic value and clinical relevance of plasma lysoGb3 concentration was investigated. All male and adult female patients with classical Fabry disease could be discerned by an elevated plasma lysoGb3. In young pre-symptomatic Fabry heterozygotes, lysoGb3 levels can be normal. Individuals carrying the R112H and P60L mutations, without classical Fabry symptoms, showed no elevated plasma lysoGb3. Multiple regression analysis showed that there is no correlation of plasma lysoGb3 concentration with total disease severity score in Fabry males. However, plasma lysoGb3 concentration did correlate with white matter lesions (odds ratio: 6.1 per 100 nM lysoGb3 increase (95% CI: 1.4-25.9, p=0.015). In females, plasma lysoGb3 concentration correlated with overall disease severity. Furthermore, plasma lysoGb3 level was related to left ventricular mass (19.5+/-5.5 g increase per 10 nM lysoGb3 increase; p=0.001). In addition, it was assessed whether lifetime exposure to lysoGb3 correlates with disease manifestations. Male Fabry patients with a high lysoGb3 exposure (>10,000 U), were moderately or severely affected, only one mildly. Female patients with a low exposure (1000 U showed disease complications. Plasma lysoGb3 is useful for the diagnosis of Fabry disease. LysoGb3 is an independent risk factor for development of cerebrovascular white matter lesions in male patients and left ventricular hypertrophy in females. Disease severity correlates with exposure to plasma lysoGb3.

  15. The diagnostic evaluation of fine needle aspiration cytology of thyroid and its clinical application

    Institute of Scientific and Technical Information of China (English)

    Jiayu Zhang; Jian Wang

    2012-01-01

    Objective: The aim of the study was to investigate the diagnostic value of fine needle aspiration cytology (FNAC) and its clinical application. Methods: From April 2009 to February 2011, thyroid FNAC were performed in a total of 186 patients with thyroid nodule or mass in our hospital and 78 of those 186 patients subsequently underwent thyroidectomy. The FNAC findings were compared with the results of the corresponding histological diagnosis. Results: The results of thyroid FNAC for 186 patients showed that, (1) 166 cases of benign lesions, the detection rate was 89.24% (166/186), including 96 cases of nodular colloid goiter (51.61 %), 28 cases of simple colloid goiter (15.05%), 38 cases of Hashimoto's thyroiditis (HT) (20.43%) and 4 cases of thyroid adenoma (2.15%); (2) 4 cases of suspicious malignant lesion, the detection rate was 2.15% (4/186); (3) 16 cases of malignant tumor, the detection rate was 8.60% (16/186). Seventy eight patients including malignant (16), suspicious malignant (4), HT (20) and nodular colloid goiters (38) cases diagnosed by FNAC were performed operation with thyroidectomy and the postoperative histopathologic results showed that there were 2 cases HT combined thyroid papillary carcinoma in HT 20 cases by FNAC, 15 cases of thyroid papillary carcinoma and 1 case of follicular carcinoma in 16 cases of malignant tumor by FNAC and 4 case of thyroid papillary carcinoma in 4 cases of suspicious malignant by FNAC. Conclusion: Thyroid FNAC is a valuable and reliable method for the diagnosis of the thyroid nodules or mass or even most diffuse thyroid diseases. Diagnosis of HT and thyroid papillary carcinoma can be made by thyroid FNAC. There was larger hint value for nodular colloid goiter and simple colloid goiter according to thyroid FNAC.

  16. Patient navigation improves cancer diagnostic resolution: an individually randomized clinical trial in an underserved population.

    Science.gov (United States)

    Raich, Peter C; Whitley, Elizabeth M; Thorland, William; Valverde, Patricia; Fairclough, Diane

    2012-10-01

    Barriers to timely resolution of abnormal cancer screening tests add to cancer health disparities among low-income, uninsured, and minority populations. We conducted a randomized trial to evaluate the impact of lay patient navigators on time to resolution and completion of follow-up testing among patients with abnormal screening tests in a medically underserved patient population. Denver Health, the safety-net health care system serving Denver, is one of 10 performance sites participating in the Patient Navigation Research Program. Of 993 eligible subjects with abnormal screening tests randomized to navigation and no-navigation (control) arms and analyzed, 628 had abnormal breast screens (66 abnormal clinical breast examinations, 304 BIRADS 0, 200 BIRADS 3, 58 BIRADS 4 or 5) whereas 235 had abnormal colorectal and 130 had abnormal prostate screens. Time to resolution was significantly shorter in the navigated group (stratified log rank test, P BIRADS 3 (P = 0.0003) and BIRADS 0 (P = 0.09), but not BIRADS 4/5 or abnormal breast examinations. Navigation shortened the time for both colorectal (P = 0.0017) and prostate screening resolution (P = 0.06). Participant demographics included 72% minority, 49% with annual household income less than $10,000, and 36% uninsured. Patient navigation positively impacts time to resolution of abnormal screening tests for breast, colorectal, and prostate cancers in a medically underserved population. By shortening the time to and increasing the proportion of patients with diagnostic resolution patient navigation could reduce disparities in stage at diagnosis and improve cancer outcomes. 2012 AACR

  17. Clinical approved fluorescent dyes coupled to endomicroscopy for in vivo diagnostic of peritoneal carcinomatosis

    Science.gov (United States)

    Abbaci, Muriel; Dartigues, Peggy; Soufan, Ranya; De Leeuw, Frederic; Fabre, Monique; Laplace-Builhé, Corinne

    2015-03-01

    Peritoneal carcinomatosis is metastatic stage aggravating digestive, gynecological or bladder cancer dissemination and the preoperative evaluation of lesions remains difficult. There is therefore a need for minimal invasive innovative techniques to establish a precise preoperative assessment of cancer peritoneal cavity. Probe-based confocal laser endomicroscopy (pCLE) provides dynamic images of the microarchitecture of tissues during an endoscopy. The PERSEE project proposes new developments in robotics and pCLE for the exploration of the peritoneal cavity during laparoscopy. Two fluorescent dyes, Patent blue V and Indocyanine green have been evaluated on human ex vivo samples to improve the contrast of pCLE images. For a future implementation in clinical study, two topically staining protocols operable in vivo have been validated on 70 specimens from 25 patients with a peritoneal carcinomatosis. The specimens were then imaged by pCLE with an optical probe designed for the application. A histo-morphological correlative study was performed on 350 pCLE images and 70 standard histological preparations. All images were interpreted in a random way by two pathologists. Differential histological diagnostics such as normal peritoneum or pseudomyxoma could be recognized on fluorescence images. The statistical analysis of the correlative study is underway. These dyes already approved for human use are interesting for pCLE imaging because some micromorphological criteria look like to conventional histology and are readable by pathologist. Thus pCLE images using both dyes do not require a specific semiology unlike to what is described in the literature, for pCLE associated with fluorescein for the in vivo imaging of pancreatic cysts.

  18. Decisions to withhold diagnostic investigations in nursing home patients with a clinical suspicion of venous thromboembolism.

    Directory of Open Access Journals (Sweden)

    Henrike J Schouten

    Full Text Available This study aimed to gather insights in physicians' considerations for decisions to either refer for- or to withhold additional diagnostic investigations in nursing home patients with a suspicion of venous thromboembolism.Our study was nested in an observational study on diagnostic strategies for suspected venous thromboembolism in nursing home patients. Patient characteristics, bleeding-complications and mortality were related to the decision to withhold investigations. For a better understanding of the physicians' decisions, 21 individual face-to-face in-depth interviews were performed and analysed using the grounded theory approach.Referal for additional diagnostic investigations was forgone in 126/322 (39.1% patients with an indication for diagnostic work-up. 'Blind' anticoagulant treatment was initiated in 95 (75.4% of these patients. The 3 month mortality rates were higher for patients in whom investigations were withheld than in the referred patients, irrespective of anticoagulant treatment (odds ratio 2.45; 95% confidence interval 1.40 to 4.29 but when adjusted for the probability of being referred (i.e. the propensity score, there was no relation of non-diagnosis decisions to mortality (odds ratio 1.75; 0.98 to 3.11. In their decisions to forgo diagnostic investigations, physicians incorporated the estimated relative impact of the potential disease; the potential net-benefits of diagnostic investigations and whether performing investigations agreed with established management goals in advance care planning.Referral for additional diagnostic investigations is withheld in almost 40% of Dutch nursing home patients with suspected venous thromboembolism and an indication for diagnostic work-up. We propose that, given the complexity of these decisions and the uncertainty regarding their indirect effects on patient outcome, more attention should be focused on the decision to either use or withhold additional diagnostic tests.

  19. Radiation exposure and image quality in x-Ray diagnostic radiology physical principles and clinical applications

    CERN Document Server

    Aichinger, Horst; Joite-Barfuß, Sigrid; Säbel, Manfred

    2012-01-01

    The largest contribution to radiation exposure to the population as a whole arises from diagnostic X-rays. Protecting the patient from radiation is a major aim of modern health policy, and an understanding of the relationship between radiation dose and image quality is of pivotal importance in optimising medical diagnostic radiology. In this volume the data provided for exploring these concerns are partly based on X-ray spectra, measured on diagnostic X-ray tube assemblies, and are supplemented by the results of measurements on phantoms and simulation calculations.

  20. Clinical research and development of tuberculosis diagnostics: moving from silos to synergy.

    Science.gov (United States)

    Nahid, Payam; Kim, Peter S; Evans, Carlton A; Alland, David; Barer, Michael; Diefenbach, Jane; Ellner, Jerrold; Hafner, Richard; Hamilton, Carol Dukes; Iademarco, Michael F; Ireton, Gregory; Kimerling, Michael E; Lienhardt, Christian; MacKenzie, William R; Murray, Megan; Perkins, Mark D; Posey, Jamie E; Roberts, Teri; Sizemore, Christine; Stevens, Wendy S; Via, Laura; Williams, Sharon D; Yew, Wing W; Swindells, Susan

    2012-05-15

    The development, evaluation, and implementation of new and improved diagnostics have been identified as critical needs by human immunodeficiency virus (HIV) and tuberculosis researchers and clinicians alike. These needs exist in international and domestic settings and in adult and pediatric populations. Experts in tuberculosis and HIV care, researchers, healthcare providers, public health experts, and industry representatives, as well as representatives of pertinent US federal agencies (Centers for Disease Control and Prevention, Food and Drug Administration, National Institutes of Health, United States Agency for International Development) assembled at a workshop proposed by the Diagnostics Working Group of the Federal Tuberculosis Taskforce to review the state of tuberculosis diagnostics development in adult and pediatric populations.

  1. Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) for Clinical and Research Applications

    DEFF Research Database (Denmark)

    Schiffman, Eric; Ohrbach, Richard; Truelove, Edmond

    2014-01-01

    AIMS: The original Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Axis I diagnostic algorithms have been demonstrated to be reliable. However, the Validation Project determined that the RDC/TMD Axis I validity was below the target sensitivity of ≥ 0.70 and specificity of ≥ 0...... shown to be both reliable and valid. Working from these findings and revisions, two international consensus workshops were convened, from which recommendations were obtained for the finalization of new Axis I diagnostic algorithms and new Axis II instruments. METHODS: Through a series of workshops...... of the literature providing valid instruments that, relative to the RDC/TMD, are shorter in length, are available in the public domain, and currently are being used in medical settings. RESULTS: The newly recommended Diagnostic Criteria for TMD (DC/TMD) Axis I protocol includes both a valid screener for detecting...

  2. Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) for Clinical and Research Applications

    DEFF Research Database (Denmark)

    Schiffman, Eric; Ohrbach, Richard; Truelove, Edmond

    2014-01-01

    AIMS: The original Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Axis I diagnostic algorithms have been demonstrated to be reliable. However, the Validation Project determined that the RDC/TMD Axis I validity was below the target sensitivity of ≥ 0.70 and specificity of ≥ 0...... shown to be both reliable and valid. Working from these findings and revisions, two international consensus workshops were convened, from which recommendations were obtained for the finalization of new Axis I diagnostic algorithms and new Axis II instruments. METHODS: Through a series of workshops...... of the literature providing valid instruments that, relative to the RDC/TMD, are shorter in length, are available in the public domain, and currently are being used in medical settings. RESULTS: The newly recommended Diagnostic Criteria for TMD (DC/TMD) Axis I protocol includes both a valid screener for detecting...

  3. Clinical usefulness of the definitions for defining characteristics of activity intolerance, excess fluid volume and decreased cardiac output in decompensated heart failure: a descriptive exploratory study.

    Science.gov (United States)

    de Souza, Vanessa; Zeitoun, Sandra Salloum; Lopes, Camila Takao; de Oliveira, Ana Paula Dias; Lopes, Juliana de Lima; de Barros, Alba Lucia Bottura Leite

    2015-09-01

    To assess the clinical usefulness of the operational definitions for the defining characteristics of the NANDA International nursing diagnoses, activity intolerance, decreased cardiac output and excess fluid volume, and the concomitant presence of those diagnoses in patients with decompensated heart failure. Content validity of the operational definitions for the defining characteristics of activity intolerance, excess fluid volume and decreased cardiac output have been previously validated by experts. Their clinical usefulness requires clinical validation. This was a descriptive exploratory study. Two expert nurses independently assessed 25 patients with decompensated heart failure for the presence or absence of 29 defining characteristics. Interrater reliability was analysed using the Kappa coefficient as a measure of clinical usefulness. The Fisher's exact test was used to test the association of the defining characteristics of activity intolerance and excess fluid volume in the presence of decreased cardiac output, and the correlation between the three diagnoses. Assessments regarding the presence of all defining characteristics reached 100% agreement, except with anxiety. Five defining characteristics of excess fluid volume were significantly associated with the presence of decreased cardiac output. Concomitant presence of the three diagnoses occurred in 80% of the patients. However, there was no significant correlation between the three diagnoses. The operational definitions for the diagnoses had strong interrater reliability, therefore they were considered clinically useful. Only five defining characteristics were representative of the association between excess fluid volume and decreased cardiac output. Therefore, excess fluid volume is related to decreased cardiac output, although these diagnoses are not necessarily associated with activity intolerance. The operational definitions may favour early recognition of the sequence of responses to decompensation

  4. Symptoms, the nature of fibromyalgia, and diagnostic and statistical manual 5 (DSM-5 defined mental illness in patients with rheumatoid arthritis and fibromyalgia.

    Directory of Open Access Journals (Sweden)

    Frederick Wolfe

    Full Text Available PURPOSE: To describe and evaluate somatic symptoms in patients with rheumatoid arthritis (RA and fibromyalgia, determine the relation between somatization syndromes and fibromyalgia, and evaluate symptom data in light of the Diagnostic and Statistical Manual-5 (DSM-5 criteria for somatic symptom disorder. METHODS: We administered the Patient Health Questionnaire-15 (PHQ-15, a measure of somatic symptom severity to 6,233 persons with fibromyalgia, RA, and osteoarthritis. PHQ-15 scores of 5, 10, and 15 represent low, medium, and high somatic symptom severity cut-points. A likely somatization syndrome was diagnosed when PHQ-15 score was ≥10. The intensity of fibromyalgia diagnostic symptoms was measured by the polysymptomatic distress (PSD scale. RESULTS: 26.4% of RA patients and 88.9% with fibromyalgia had PHQ-15 scores ≥10 compared with 9.3% in the general population. With each step-wise increase in PHQ-15 category, more abnormal mental and physical health status scores were observed. RA patients satisfying fibromyalgia criteria increased from 1.2% in the PHQ-15 low category to 88.9% in the high category. The sensitivity and specificity of PHQ-15≥10 for fibromyalgia diagnosis was 80.9% and 80.0% (correctly classified = 80.3% compared with 84.3% and 93.7% (correctly classified = 91.7% for the PSD scale. 51.4% of fibromyalgia patients and 14.8% with RA had fatigue, sleep or cognitive problems that were severe, continuous, and life-disturbing; and almost all fibromyalgia patients had severe impairments of function and quality of life. CONCLUSIONS: All patients with fibromyalgia will satisfy the DSM-5 "A" criterion for distressing somatic symptoms, and most would seem to satisfy DSM-5 "B" criterion because symptom impact is life-disturbing or associated with substantial impairment of function and quality of life. But the "B" designation requires special knowledge that symptoms are "disproportionate" or "excessive," something that is

  5. Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult Autism Spectrum Disorder Diagnostic Clinic

    Science.gov (United States)

    Wilson, C. Ellie; Gillan, Nicola; Spain, Deborah; Robertson, Dene; Roberts, Gedeon; Murphy, Clodagh M.; Maltezos, Stefanos; Zinkstok, Janneke; Johnston, Katie; Dardani, Christina; Ohlsen, Chris; Deeley, P. Quinton; Craig, Michael; Mendez, Maria A.; Happé, Francesca; Murphy, Declan G. M.

    2013-01-01

    An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56% met DSM-5 ASD criteria. A further 19% met DSM-5 (draft)…

  6. Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult Autism Spectrum Disorder Diagnostic Clinic

    Science.gov (United States)

    Wilson, C. Ellie; Gillan, Nicola; Spain, Deborah; Robertson, Dene; Roberts, Gedeon; Murphy, Clodagh M.; Maltezos, Stefanos; Zinkstok, Janneke; Johnston, Katie; Dardani, Christina; Ohlsen, Chris; Deeley, P. Quinton; Craig, Michael; Mendez, Maria A.; Happé, Francesca; Murphy, Declan G. M.

    2013-01-01

    An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56% met DSM-5 ASD criteria. A further 19% met DSM-5 (draft)…

  7. Clinically defined non-specific symptoms in the vicinity of mobile phone base stations: A retrospective before-after study

    Energy Technology Data Exchange (ETDEWEB)

    Baliatsas, Christos, E-mail: c.baliatsas@nivel.nl [Netherlands Institute for Health Services Research (NIVEL), Utrecht (Netherlands); Kamp, Irene van, E-mail: irene.van.kamp@rivm.nl [National Institute for Public Health and the Environment (RIVM), Bilthoven (Netherlands); Bolte, John, E-mail: john.bolte@rivm.nl [National Institute for Public Health and the Environment (RIVM), Bilthoven (Netherlands); Kelfkens, Gert, E-mail: gert.kelfkens@rivm.nl [National Institute for Public Health and the Environment (RIVM), Bilthoven (Netherlands); Dijk, Christel van, E-mail: Christel.Van.Dijk@amsterdam.nl [Department of Research, Information and Statistics (OIS), Municipality of Amsterdam, Amsterdam (Netherlands); Spreeuwenberg, Peter, E-mail: p.spreeuwenberg@nivel.nl [Netherlands Institute for Health Services Research (NIVEL), Utrecht (Netherlands); Hooiveld, Mariette, E-mail: m.hooiveld@nivel.nl [Netherlands Institute for Health Services Research (NIVEL), Utrecht (Netherlands); Lebret, Erik, E-mail: erik.lebret@rivm.nl [National Institute for Public Health and the Environment (RIVM), Bilthoven (Netherlands); Institute for Risk Assessment Sciences (IRAS), Utrecht University, Utrecht (Netherlands); Yzermans, Joris, E-mail: J.Yzermans@nivel.nl [Netherlands Institute for Health Services Research (NIVEL), Utrecht (Netherlands)

    2016-09-15

    The number of mobile phone base station(s) (MPBS) has been increasing to meet the rapid technological changes and growing needs for mobile communication. The primary objective of the present study was to test possible changes in prevalence and number of NSS in relation to MPBS exposure before and after increase of installed MPBS antennas. A retrospective cohort study was conducted, comparing two time periods with high contrast in terms of number of installed MPBS. Symptom data were based on electronic health records from 1069 adult participants, registered in 9 general practices in different regions in the Netherlands. All participants were living within 500 m from the nearest bases station. Among them, 55 participants reported to be sensitive to MPBS at T1. A propagation model combined with a questionnaire was used to assess indoor exposure to RF-EMF from MPBS at T1. Estimation of exposure at T0 was based on number of antennas at T0 relative to T1. At T1, there was a > 30% increase in the total number of MPBS antennas. A higher prevalence for most NSS was observed in the MPBS-sensitive group at T1 compared to baseline. Exposure estimates were not associated with GP-registered NSS in the total sample. Some significant interactions were observed between MPBS-sensitivity and exposure estimates on risk of symptoms. Using clinically defined outcomes and a time difference of > 6 years it was demonstrated that RF-EMF exposure to MPBS was not associated with the development of NSS. Nonetheless, there was some indication for a higher risk of NSS for the MPBS-sensitive group, mainly in relation to exposure to UMTS, but this should be interpreted with caution. Results have to be verified by future longitudinal studies with a particular focus on potentially susceptible population subgroups of large sample size and integrated exposure assessment. - Highlights: • There was an important increase in the total number of MPBS at T1 compared to T0. • Prevalence of NSS was

  8. Acute Respiratory Distress Syndrome diagnosis after coronary artery bypass: comparison between diagnostic criteria and clinical picture.

    Directory of Open Access Journals (Sweden)

    Manzar Vakili

    2015-01-01

    Full Text Available Acute Respiratory Distress Syndrome (ARDS is a potential complication of cardiac surgery, given that patients undergoing CABG frequently have hypoxemia and pulmonary dysfunction during initial hours after surgery. Thus, ARDS criteria in these patients are more likely to be positive while these criteria may not match the patient`s clinical picture. We aimed to investigate frequency of rapid onset hypoxemia in Pressure of Arterial Oxygen to Fractional Inspired Oxygen Concentration (PaO2/FiO2 less than 200 and diffuse pulmonary infiltrates as two diagnostic criteria forwards and compared these criteria with the clinical picture of the patients after Coronary Artery Bypass Graft (CABG in this study. The study was prospective case series which carried out in about six months. All patients admitted to intensive care unit of Tehran Heart Center, who had undergone CABG on cardiopulmonary pump (CPB recruited in the study. After considering inclusion criteria, age, sex, duration of intubation, arterial blood gas and chest radiography, on 24 hours and 48 hours after admission to the ICU were recorded. Then, patients with rapid onset of hypoxemia (PaO2/FiO2≤200mmHg and diffuse pulmonary infiltrates and without sign or symptoms of obvious heart failure (probable positive ARDS cases criteria were recorded and comparison between these probable positive cases with clinician`s clinical diagnosis (blinded to the study was performed. In this study, a total of 300 patients after on-pump coronary artery bypass surgery were included. Postoperatively, 2 (0.66 % in the 24 hours and 4 (1.33% patients in 48 hours after surgery were positive for the two ARDS criteria according to the checklists, but; nobody had saved persistently ARDS criteria persistently during 48 hours after surgery. At the same time, clinician did not report any case of ARDS among 300 patients. In this study patients with ARDS criteria had no significant differences in age (P.value=0.937 and sex (P

  9. Primary central nervous system vasculitis and its mimicking diseases - clinical features, outcome, comorbidities and diagnostic results - A case control study.

    Science.gov (United States)

    Becker, J; Horn, P A; Keyvani, K; Metz, I; Wegner, C; Brück, W; Heinemann, F M; Schwitalla, J C; Berlit, P; Kraemer, M

    2017-05-01

    To compare clinical features and outcome, imaging characteristics, biopsy results and laboratory findings in a cohort of 69 patients with suspected or diagnosed primary central nervous system vasculitis (PCNSV) in adults; to identify risk factors and predictive features for PCNSV. We performed a case-control-study including 69 patients referred with suspected PCNSV from whom 25 were confirmed by predetermined diagnostic criteria based on biopsy (72%) or angiography (28%). Forty-four patients turned out to have 15 distinct other diagnoses. Clinical and diagnostic data were compared between PCNSV and Non-PCNSV cohorts. Clinical presentation was not able to discriminate between PCNSV and its differential diagnoses. However, a worse clinical outcome was associated with PCNSV (p=0.005). Biopsy (p=0.004), contrast enhancement (p=0.000) or tumour-like mass lesion (p=0.008) in magnetic resonance imaging (MRI), intrathecal IgG increase (p=0.020), normal Duplex findings of cerebral arteries (p=0.022) and conventional angiography (p 0.010) were able to distinguish between the two cohorts. In a cohort of 69 patients with suspected PCNSV, a large number (64%) was misdiagnosed and partly received treatment, since mimicking diseases are very difficult to discriminate. Clinical presentation at manifestation does not help to differentiate PCNSV from its mimicking diseases. MRI and cerebrospinal fluid analysis are unlikely to be normal in PCNSV, though unspecific if pathological. Cerebral angiography and biopsy must complement other diagnostics when establishing the diagnosis in order to avoid misdiagnosis and mistreatment. German clinical trials register: http://drks-neu.uniklinik-freiburg.de/drks_web/, Unique identifier: DRKS00005347. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. Clinical data miner: an electronic case report form system with integrated data preprocessing and machine-learning libraries supporting clinical diagnostic model research.

    Science.gov (United States)

    Installé, Arnaud Jf; Van den Bosch, Thierry; De Moor, Bart; Timmerman, Dirk

    2014-10-20

    Using machine-learning techniques, clinical diagnostic model research extracts diagnostic models from patient data. Traditionally, patient data are often collected using electronic Case Report Form (eCRF) systems, while mathematical software is used for analyzing these data using machine-learning techniques. Due to the lack of integration between eCRF systems and mathematical software, extracting diagnostic models is a complex, error-prone process. Moreover, due to the complexity of this process, it is usually only performed once, after a predetermined number of data points have been collected, without insight into the predictive performance of the resulting models. The objective of the study of Clinical Data Miner (CDM) software framework is to offer an eCRF system with integrated data preprocessing and machine-learning libraries, improving efficiency of the clinical diagnostic model research workflow, and to enable optimization of patient inclusion numbers through study performance monitoring. The CDM software framework was developed using a test-driven development (TDD) approach, to ensure high software quality. Architecturally, CDM's design is split over a number of modules, to ensure future extendability. The TDD approach has enabled us to deliver high software quality. CDM's eCRF Web interface is in active use by the studies of the International Endometrial Tumor Analysis consortium, with over 4000 enrolled patients, and more studies planned. Additionally, a derived user interface has been used in six separate interrater agreement studies. CDM's integrated data preprocessing and machine-learning libraries simplify some otherwise manual and error-prone steps in the clinical diagnostic model research workflow. Furthermore, CDM's libraries provide study coordinators with a method to monitor a study's predictive performance as patient inclusions increase. To our knowledge, CDM is the only eCRF system integrating data preprocessing and machine-learning libraries

  11. [Hernia surgery in urology: part 1: inguinal, femoral and umbilical hernias - fundamentals of clinical diagnostics and treatment].

    Science.gov (United States)

    Franz, T; Schwalenberg, T; Dietrich, A; Müller, J; Stolzenburg, J-U

    2013-05-01

    Hernias are a common occurrence with correspondingly huge clinical and economic impacts on the healthcare system. The most common forms of hernia which need to be diagnosed and treated in routine urological work are inguinal and umbilical hernias. With the objective of reconstructing and stabilizing the inguinal canal there are the possibilities of open and minimally invasive surgery and both methods can be performed with suture or mesh repair. Indications for surgery of umbilical hernias are infrequent although this is possible with little effort under local anesthesia. This article presents an overview of the epidemiology, pathogenesis, clinical symptoms, diagnostics and therapy of inguinal, femoral and umbilical hernias.

  12. A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

    Directory of Open Access Journals (Sweden)

    Christopher M Watson

    Full Text Available Next generation sequencing methodologies are facilitating the rapid characterisation of novel structural variants at nucleotide resolution. These approaches are particularly applicable to variants initially identified using alternative molecular methods. We report a child born with bilateral postaxial syndactyly of the feet and bilateral fifth finger clinodactyly. This was presumed to be an autosomal recessive syndrome, due to the family history of consanguinity. Karyotype analysis revealed a homozygous pericentric inversion of chromosome 7 (46,XX,inv(7(p15q21x2 which was confirmed to be heterozygous in both unaffected parents. Since the resolution of the karyotype was insufficient to identify any putatively causative gene, we undertook medium-coverage whole genome sequencing using paired-end reads, in order to elucidate the molecular breakpoints. In a two-step analysis, we first narrowed down the region by identifying discordant read-pairs, and then determined the precise molecular breakpoint by analysing the mapping locations of "soft-clipped" breakpoint-spanning reads. PCR and Sanger sequencing confirmed the identified breakpoints, both of which were located in intergenic regions. Significantly, the 7p15 breakpoint was located 523 kb upstream of HOXA13, the locus for hand-foot-genital syndrome. By inference from studies of HOXA locus control in the mouse, we suggest that the inversion has delocalised a HOXA13 enhancer to produce the phenotype observed in our patient. This study demonstrates how modern genetic diagnostic approach can characterise structural variants at nucleotide resolution and provide potential insights into functional regulation.

  13. Clinical Diagnosis of the Dampness and Mold Hypersensitivity Syndrome: Review of the Literature and Suggested Diagnostic Criteria

    Directory of Open Access Journals (Sweden)

    Ville Valtonen

    2017-08-01

    Full Text Available A great variety of non-specific symptoms may occur in patients living or working in moisture-damaged buildings. In the beginning, these symptoms are usually reversible, mild, and present irritation of mucosa and increased morbidity due to respiratory tract infections and asthma-like symptoms. Later, the disease may become chronic and a patient is referred to a doctor where the assessment of dampness and mold hypersensitivity syndrome (DMHS often presents diagnostic challenges. Currently, unanimously accepted laboratory tests are not yet available. Therefore, the diagnosis of DMHS is clinical and is based on the patient’s history and careful examination. In this publication, I reviewed contemporary knowledge on clinical presentations, laboratory methods, and clinical assessment of DMHS. From the literature, I have not found any proposed diagnostic clinical criteria. Therefore, I propose five clinical criteria to diagnose DMHS: (1 the history of mold exposure in water-damaged buildings, (2 increased morbidity to due infections, (3 sick building syndrome, (4 multiple chemical sensitivity, and (5 enhanced scent sensitivity. If all the five criteria are met, the patient has a very probable DMHS. To resolve the current problems in assigning correct DMHS diagnosis, we also need novel assays to estimate potential risks of developing DMHS.

  14. Italian Frontotemporal Dementia Network (FTD Group-SINDEM): sharing clinical and diagnostic procedures in Frontotemporal Dementia in Italy.

    Science.gov (United States)

    Borroni, B; Turrone, R; Galimberti, D; Nacmias, B; Alberici, A; Benussi, A; Caffarra, P; Caltagirone, C; Cappa, S F; Frisoni, G B; Ghidoni, R; Marra, C; Padovani, A; Rainero, I; Scarpini, E; Silani, V; Sorbi, S; Tagliavini, F; Tremolizzo, L; Bruni, A C

    2015-05-01

    In the prospect of improved disease management and future clinical trials in Frontotemporal Dementia, it is desirable to share common diagnostic procedures. To this aim, the Italian FTD Network, under the aegis of the Italian Neurological Society for Dementia, has been established. Currently, 85 Italian Centers involved in dementia care are part of the network. Each Center completed a questionnaire on the local clinical procedures, focused on (1) clinical assessment, (2) use of neuroimaging and genetics; (3) support for patients and caregivers; (4) an opinion about the prevalence of FTD. The analyses of the results documented a comprehensive clinical and instrumental approach to FTD patients and their caregivers in Italy, with about 1,000 newly diagnosed cases per year and 2,500 patients currently followed by the participating Centers. In analogy to other European FTD consortia, future aims will be devoted to collect data on epidemiology of FTD and its subtypes and to provide harmonization of procedures among Centers.

  15. Potential clinical utility of a fibre optic-coupled dosemeter for dose measurements in diagnostic radiology.

    Science.gov (United States)

    Jones, A Kyle; Hintenlang, David

    2008-01-01

    Many types of dosemeters have been investigated for absorbed dose measurements in diagnostic radiology, including ionisation chambers, metal-oxide semiconductor field-effect transistor dosemeters, thermoluminescent dosemeters, optically stimulated luminescence detectors, film and diodes. Each of the aforementioned dosemeters suffers from a critical limitation, either the need to interrogate, or read, the dosemeter to retrieve dose information or large size to achieve adequate sensitivity. This work presents an evaluation of a fibre optic-coupled dosemeter (FOCD) for use in diagnostic radiology dose measurement. This dosemeter is small, tissue-equivalent and capable of providing true real-time dose information. The FOCD has been evaluated for dose linearity, angular dependence, sensitivity and energy dependence at energies, beam qualities and beam quantities relevant to diagnostic radiology. The FOCD displayed excellent dose linearity and high sensitivity, while exhibiting minimal angular dependence of response. However, the dosemeter does exhibit positive energy dependence, and is subject to attenuation of response when bent.

  16. 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

    . DNA was extracted from faecal samples and sequenced on the Illumina MiSeq system. Species distribution was determined with MGmapper and NGS-based diagnostic prediction was performed based on the relative abundance of pathogenic bacteria and Giardia and detection of pathogen-specific virulence genes....... NGS-based diagnostic results were compared to conventional findings for 55 of the diarrhoeal samples; 38 conventionally positive for bacterial pathogens, two positive for Giardia, four positive for virus and 11 conventionally negative. The NGS-based approach enabled detection of the same bacterial...... pathogens as the classical approach in 34 of the 38 conventionally positive bacterial samples and predicted the responsible pathogens in five of the 11 conventionally negative samples. Overall, the NGS-based approach enabled pathogen detection comparable to conventional diagnostics and the approach has...

  17. MALDI TOF imaging mass spectrometry in clinical pathology: a valuable tool for cancer diagnostics (review).

    Science.gov (United States)

    Kriegsmann, Jörg; Kriegsmann, Mark; Casadonte, Rita

    2015-03-01

    Matrix-assisted laser desorption/ionization (MALDI) time-of-flight (TOF) imaging mass spectrometry (IMS) is an evolving technique in cancer diagnostics and combines the advantages of mass spectrometry (proteomics), detection of numerous molecules, and spatial resolution in histological tissue sections and cytological preparations. This method allows the detection of proteins, peptides, lipids, carbohydrates or glycoconjugates and small molecules.Formalin-fixed paraffin-embedded tissue can also be investigated by IMS, thus, this method seems to be an ideal tool for cancer diagnostics and biomarker discovery. It may add information to the identification of tumor margins and tumor heterogeneity. The technique allows tumor typing, especially identification of the tumor of origin in metastatic tissue, as well as grading and may provide prognostic information. IMS is a valuable method for the identification of biomarkers and can complement histology, immunohistology and molecular pathology in various fields of histopathological diagnostics, especially with regard to identification and grading of tumors.

  18. Recurrence Incidence in Differentiated Thyroid Cancers and the Importance of Diagnostic Iodine-131 Scintigraphy in Clinical Follow-up

    Directory of Open Access Journals (Sweden)

    Filiz Hatipoğlu

    2016-06-01

    Full Text Available Objective: Differentiated thyroid cancers (DTC are tumors with good prognosis. However, local recurrence or distant metastasis can be observed. In our study, we aimed to investigate the incidence of recurrence and the importance of diagnostic iodine-131 whole body scan (WBS in clinical follow-up in patients with DTC. Methods: The clinical data of 217 patients with DTC who were followed-up more than 3 years were reviewed retrospectively. The incidence of recurrence was investigated in a group of patients who had radioactive iodine (RAI treatment and showed no sign of residual thyroid tissue or metastasis with diagnostic WBS that was performed at 6-12 months after therapy and had a thyroglobulin (Tg level lower than 2 ng/dl. Results: At the time of diagnosis, ten cases had thyroid capsule invasion, 25 cases had extra-thyroid soft tissue invasion, 11 patients showed lymph node metastasis and four patients had distant organ metastasis. One hundred forty-five patients had RAI treatment at ablation dose (75-100 mCi, whereas 35 patients had RAI treatment at metastasis dose (150-200 mCi. Thirty-seven patients with papillary microcarcinoma did not receive RAI treatment. In 12 (%7.5 of the 160 patients who were considered as “successful ablation”, a recurrence was identified. Recurrence was detected by diagnostic WBS in all cases and stimulated Tg level was <2 ng/dL with the exception of the two cases who had distant metastasis. Conclusion: Identification of pathological findings with WBS in patients who developed local recurrence in the absence of elevated Tg highlights the importance of diagnostic WBS in clinical follow-up.

  19. The use of rapid dengue diagnostic tests in a routine clinical setting in a dengue-endemic area of Colombia

    Directory of Open Access Journals (Sweden)

    Lyda Osorio

    2015-06-01

    Full Text Available There is insufficient evidence of the usefulness of dengue diagnostic tests under routine conditions. We sought to analyse how physicians are using dengue diagnostics to inform research and development. Subjects attending 14 health institutions in an endemic area of Colombia with either a clinical diagnosis of dengue or for whom a dengue test was ordered were included in the study. Patterns of test-use are described herein. Factors associated with the ordering of dengue diagnostic tests were identified using contingency tables, nonparametric tests and logistic regression. A total of 778 subjects were diagnosed with dengue by the treating physician, of whom 386 (49.5% were tested for dengue. Another 491 dengue tests were ordered in subjects whose primary diagnosis was not dengue. Severe dengue classification [odds ratio (OR 2.2; 95% confidence interval (CI 1.1-4.5], emergency consultation (OR 1.9; 95% CI 1.4-2.5 and month of the year (OR 3.1; 95% CI 1.7-5.5 were independently associated with ordering of dengue tests. Dengue tests were used both to rule in and rule out diagnosis. The latter use is not justified by the sensitivity of current rapid dengue diagnostic tests. Ordering of dengue tests appear to depend on a combination of factors, including physician and institutional preferences, as well as other patient and epidemiological factors.

  20. Clinical characteristics and risk of serious disease in patients referred to a diagnostic centre

    DEFF Research Database (Denmark)

    Næser, Esben; Fredberg, Ulrich; Møller, Henrik

    2017-01-01

    general symptoms. The highest LR of cancer was found for abdominal mass, high lactate dehydrogenase or abnormal findings in the diagnostic imaging. The highest LR of non-malignant disease was found for swollen joints or abnormal auscultation of lung or chest. CONCLUSIONS: Patients referred by their GP...... for the diagnosis of cancer and serious non-malignant disease in these patients. METHOD: A cohort study of 938 patients referred by their GP to the diagnostic centre at Silkeborg Regional Hospital. All patients were followed up for three months in national registries. The likelihood ratio (LR) of cancer or serious...

  1. Stability of clinical outcome measures in rheumatoid arthritis patients with stable disease defined on the basis of the EULAR response criteria

    DEFF Research Database (Denmark)

    Madsen, Ole Rintek

    2016-01-01

    Natural variation also known as measurement error is assessed in individuals in "steady state." The study aimed to examine inter-visit variations in clinical outcome measures in rheumatoid arthritis (RA) patients with stable disease defined on the basis of the EULAR response criteria. Two hundred...

  2. Routine internal- and external-quality control data in clinical laboratories for estimating measurement and diagnostic uncertainty using GUM principles.

    Science.gov (United States)

    Magnusson, Bertil; Ossowicki, Haakan; Rienitz, Olaf; Theodorsson, Elvar

    2012-05-01

    Healthcare laboratories are increasingly joining into larger laboratory organizations encompassing several physical laboratories. This caters for important new opportunities for re-defining the concept of a 'laboratory' to encompass all laboratories and measurement methods measuring the same measurand for a population of patients. In order to make measurement results, comparable bias should be minimized or eliminated and measurement uncertainty properly evaluated for all methods used for a particular patient population. The measurement as well as diagnostic uncertainty can be evaluated from internal and external quality control results using GUM principles. In this paper the uncertainty evaluations are described in detail using only two main components, within-laboratory reproducibility and uncertainty of the bias component according to a Nordtest guideline. The evaluation is exemplified for the determination of creatinine in serum for a conglomerate of laboratories both expressed in absolute units (μmol/L) and relative (%). An expanded measurement uncertainty of 12 μmol/L associated with concentrations of creatinine below 120 μmol/L and of 10% associated with concentrations above 120 μmol/L was estimated. The diagnostic uncertainty encompasses both measurement uncertainty and biological variation, and can be estimated for a single value and for a difference. This diagnostic uncertainty for the difference for two samples from the same patient was determined to be 14 μmol/L associated with concentrations of creatinine below 100 μmol/L and 14 % associated with concentrations above 100 μmol/L.

  3. Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield

    NARCIS (Netherlands)

    Nelen, M.; Veltman, J.A.

    2012-01-01

    For the reasons discussed here, we think whole-genome- or exome-based approaches are currently most suited for diagnostic implementation in genetically heterogeneous diseases, initially to complement and later to replace Sanger sequencing, qPCR and genomic microarrays. Patients do need to be counsel

  4. Amniocentesis is a safe and effective prenatal diagnostic tool: a clinical study in Eastern India

    Directory of Open Access Journals (Sweden)

    Kanchan Mukherjee

    2015-10-01

    Conclusions: Two factors, indications for amniocentesis as well as the procedure itself, contribute to the risk of miscarriage. The procedure-related risk is very low and the total risk of miscarriage is around one percent. Amniocentesis is a safe and effective prenatal diagnostic procedure. [Int J Reprod Contracept Obstet Gynecol 2015; 4(5.000: 1330-1334

  5. The challenge of Clostridium difficile infection: Overview of clinical manifestations, diagnostic tools and therapeutic options

    NARCIS (Netherlands)

    Postma, N.; Kiers, D.; Pickkers, P.

    2015-01-01

    The most important infectious cause of antibiotic-associated diarrhoea and colitis is Clostridium difficile, which is a Gram-positive, anaerobic, spore-forming, toxin-producing bacillus. In this overview we will discuss the diagnostic and therapeutic management of patients presenting with suspected

  6. Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

    DEFF Research Database (Denmark)

    Aabom, Anne; Andersen, Klaus E; Fagerberg, Christina

    2017-01-01

    BACKGROUND: With a potentially early onset, hereditary angioedema (HAE) requires special knowledge also in infancy and early childhood. In children from families with HAE, the diagnosis should be confirmed or refuted early, which can be difficult. Studies of childhood HAE and the diagnostic...

  7. DIAGNOSTIC BLOCKS OF THE TIBIAL NERVE IN SPASTIC HEMIPARESIS - EFFECTS ON CLINICAL, ELECTROPHYSIOLOGICAL AND GAIT PARAMETERS

    NARCIS (Netherlands)

    ARENDZEN, JH; VANDUIJN, H; BECKMANN, MKF; HARLAAR, J; VOGELAAR, TW; PREVO, AJH

    The value of a diagnostic block (DB) of the tibial nerve in 17 hemiparetic patients with gait disturbances was investigated. The purpose of this study was to find instruments that help to select patients who will benefit from a long lasting peripheral nerve block. The manually elicited ankle clonus

  8. Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

    NARCIS (Netherlands)

    Morava, E.; Wosik, H.; Karteszi, J.; Guillard, M.; Adamowicz, M.; Sykut-Cegielska, J.; Hadzsiev, K.; Wevers, R.A.; Lefeber, D.J.

    2008-01-01

    Congenital disorder of glycosylation type I (CDG I) represent a rapidly growing group of inherited multisystem disorders with 13 genetically established subtypes (CDG Ia to CDG Im), and a high number of biochemically unresolved cases (CDG Ix). Further diagnostic effort and prognosis counselling are

  9. The challenge of Clostridium difficile infection: Overview of clinical manifestations, diagnostic tools and therapeutic options

    NARCIS (Netherlands)

    Postma, N.; Kiers, D.; Pickkers, P.

    2015-01-01

    The most important infectious cause of antibiotic-associated diarrhoea and colitis is Clostridium difficile, which is a Gram-positive, anaerobic, spore-forming, toxin-producing bacillus. In this overview we will discuss the diagnostic and therapeutic management of patients presenting with suspected

  10. Diagnostic Evaluation and Management of Chronic Thromboembolic Pulmonary Hypertension: A Clinical Practice Guideline

    Directory of Open Access Journals (Sweden)

    Sanjay Mehta

    2010-01-01

    Full Text Available BACKGROUND: Pulmonary embolism is a common condition. Some patients subsequently develop chronic thromboembolic pulmonary hypertension (CTEPH. Many care gaps exist in the diagnosis and management of CTEPH patients including lack of awareness, incomplete diagnostic assessment, and inconsistent use of surgical and medical therapies.

  11. DRAFT: Russian Association of Endocrinologists Clinic Guidelines for Thyroid Nodules Diagnostic and Treatment

    Directory of Open Access Journals (Sweden)

    Vladimir Eduardovich Vanushko

    2015-05-01

    Full Text Available Russian guidelines for diagnostic of thyroid nodules gained some actual questions: necessity of ultrasound (US-screening of the thyroid cancer, indications for fine needle aspiration and exam of calcitonin, necessity of unification of US and cytopathology classification for signs of thyroid nodules. 

  12. Hemicrania continua in a headache clinic: referral source and diagnostic delay in a series of 22 patients.

    Science.gov (United States)

    Cortijo, Elisa; Guerrero, Angel L; Herrero, Sonia; Mulero, Patricia; Muñoz, Irene; Pedraza, María I; Peñas, María L; Rojo, Esther; Campos, Dulce; Fernández, Rosa

    2012-10-01

    Hemicrania continua (HC) is a unilateral and continuous primary headache with superimposed exacerbations frequently associated with autonomic features. Diagnostic criteria of HC, according to II Edition of International Classification of Headache Disorders require complete response to indomethacin. HC is probably misdiagnosed more often than other primary headaches. We aim to analyze characteristics of a series of 22 consecutive cases of HC. We recruited patients from a headache outpatient clinic in a tertiary hospital over a 3-year period (January 2008 to January 2011). We prospectively gathered demographic and nosological characteristics and considered referral source and delay between onset of headache and diagnosis of HC. Twenty-two patients (14 females, 8 males) out of 1,150, who attended the mentioned clinic during the inclusion period (1.9 %) were diagnosed with HC. All cases responded to indomethacin. No patient received a diagnosis of HC before attending our headache office. Mean latency of diagnosis was 86.1 ± 106.5 months (range 3-360). 11 patients (50 %) were referred from primary care, with 9 (40.9 %) from other neurology clinics and 2 (9.1 %) from other specialities offices. According to our series, HC is not an infrequent diagnosis in a headache outpatient clinic. Diagnostic delay is comparable to data collected in previous studies. As HC is frequently misdiagnosed, we thing there is a need for increasing the understanding of this entity, potentially responsive to indomethacin.

  13. Symptom severity scale of the DSM5 for schizophrenia, and other psychotic disorders: diagnostic validity and clinical feasibility.

    Science.gov (United States)

    Ritsner, Michael S; Mar, Maria; Arbitman, Marina; Grinshpoon, Alexander

    2013-06-30

    Innovations in DSM5 include dimensional diagnosis of schizophrenia (SZ) and other psychotic (OP) disorders using the symptom severity scale (SS-DSM5). We evaluated the psychometric properties and diagnostic validity of the SS-DSM5 scale using a cross-sectional design and an unselected convenience unselected sample of 314 inpatients and outpatients with SZ/OP and mood disorders who received standard care in routine clinical practice. The SS-DSM5 scale, the Clinical Global Impression-Severity scale (CGI-S), the Positive and Negative Syndrome Scale (PANSS), and the Bech-Rafaelsen Mania Scale (BRMS) were administered. Factor structure, reliability, internal consistency, convergent and diagnostic ability of the DSM5-SS were evaluated. Factor analysis indicated two latent factors underlying the SS-DSM5 (Psychotic and Deficit sub-scales). Cronbach's alpha was >0.70. Convergent validity of the SS-DSM5 was highly significant. Patients with SZ/PO disorders were correctly diagnosed (77.9%) using the SS-DSM5 scale (72% using PANSS). The agreement of the diagnostic decisions between the SS-DSM5 and PANSS was substantial for SZ/PO disorders (Kappa=0.75). Classifying participants with SZ/PO versus mood disorders using SS-DSM5 provided a sensitivity of 95%, and specificity of 34%. Thus, this study suggests that the SS-DSM5 has acceptable psychometric properties and that its use in clinical practice and research is feasible in clinical settings. The dimensional option for the diagnosis of schizophrenia and related disorders using SS-DSM5 is discussed.

  14. Diagnostic accuracy of the STRATIFY clinical prediction rule for falls: A systematic review and meta-analysis

    LENUS (Irish Health Repository)

    Billington, Jennifer

    2012-08-07

    AbstractBackgroundThe STRATIFY score is a clinical prediction rule (CPR) derived to assist clinicians to identify patients at risk of falling. The purpose of this systematic review and meta-analysis is to determine the overall diagnostic accuracy of the STRATIFY rule across a variety of clinical settings.MethodsA literature search was performed to identify all studies that validated the STRATIFY rule. The methodological quality of the studies was assessed using the Quality Assessment of Diagnostic Accuracy Studies tool. A STRATIFY score of ≥2 points was used to identify individuals at higher risk of falling. All included studies were combined using a bivariate random effects model to generate pooled sensitivity and specificity of STRATIFY at ≥2 points. Heterogeneity was assessed using the variance of logit transformed sensitivity and specificity.ResultsSeventeen studies were included in our meta-analysis, incorporating 11,378 patients. At a score ≥2 points, the STRATIFY rule is more useful at ruling out falls in those classified as low risk, with a greater pooled sensitivity estimate (0.67, 95% CI 0.52–0.80) than specificity (0.57, 95% CI 0.45 – 0.69). The sensitivity analysis which examined the performance of the rule in different settings and subgroups also showed broadly comparable results, indicating that the STRATIFY rule performs in a similar manner across a variety of different ‘at risk’ patient groups in different clinical settings.ConclusionThis systematic review shows that the diagnostic accuracy of the STRATIFY rule is limited and should not be used in isolation for identifying individuals at high risk of falls in clinical practice.

  15. A Comparison of DSM-IV-TR and DSM-5 Diagnostic Classifications in the Clinical Diagnosis of Autistic Spectrum Disorder.

    Science.gov (United States)

    Yaylaci, Ferhat; Miral, Suha

    2017-01-01

    Aim of this study was to compare children diagnosed with Pervasive Developmental Disorder (PDD) according to DSM-IV-TR and DSM-5 diagnostic systems. One hundred fifty children aged between 3 and 15 years diagnosed with PDD by DSM-IV-TR were included. PDD symptoms were reviewed through psychiatric assessment based on DSM-IV-TR and DSM-5 criteria. Clinical severity was determined using Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC). A statistically significant decrease (19.3 %) was detected in the diagnostic ratio with DSM-5. Age and symptom severity differed significantly between those who were and were not diagnosed with PDD using DSM-5. B4 criteria in DSM-5 was most common criterion. Results indicate that individuals diagnosed with PDD by DSM-IV-TR criteria may not be diagnosed using DSM-5 criteria.

  16. A Clinical Analysis of 293 FUO Patients, A Diagnostic Model Discriminating infectious Diseases from Non-infectious Diseases

    Institute of Scientific and Technical Information of China (English)

    2014-01-01

    Objective A diagnostic model was established to discriminate infectious diseases from non-infectious diseases. Methods The clinical data of patients with fever of unknown origin (FUO) hospitalized in Xiangya Hospital Central South University, from January, 2006 to April, 2011 were retrospectively analyzed. Patients enrolled were divided into two groups. The ifrst group was used to develop a diagnostic model: independent variables were recorded and considered in a logistic regression analysis to identify infectious and non-infectious diseases (αin= 0.05, αout= 0.10). The second group was used to evaluate the diagnostic model and make ROC analysis. Results The diagnostic rate of 143 patients in the ifrst group was 87.4%, the diagnosis included infectious disease (52.4%), connective tissue diseases (16.8%), neoplastic disease (16.1%) and miscellaneous (2.1%). The diagnostic rate of 168 patients in the second group was 88.4%, and the diagnosis was similar to the ifrst group. Logistic regression analysis showed that decreased white blood cell count (WBC 320 U/L) and lymphadenectasis were independent risk factors associated with non-infectious diseases. The odds ratios were 14.74, 5.84 and 5.11 (P≤ 0.01) , respectively. In ROC analysis, the sensitivity and speciifcity of the positive predictive values was 62.1% and 89.1%, respectively, while that of negative predicting values were 75% and 81.7%, respectively (AUC = 0.76,P = 0.00). Conclusions The combination of WBC 320 U/L and lymphadenectasis may be useful in discriminating infectious diseases from non-infectious diseases in patients hospitalized as FUO.

  17. Early Diagnosis of Pneumonia in Severe Stroke: Clinical Features and the Diagnostic Role of C-Reactive Protein.

    Directory of Open Access Journals (Sweden)

    Anushka Warusevitane

    Full Text Available Accurate diagnosis of pneumonia complicating severe stroke is challenging due to difficulties in physical examination, altered immune responses and delayed manifestations of radiological changes. The aims of this study were to describe early clinical features and to examine C-reactive protein (CRP as a diagnostic marker of post-stroke pneumonia.Patients who required nasogastric feeding and had no evidence of pneumonia within 7 days of stroke onset were included in the study and followed-up for 21 days with a daily clinical examination. Pneumonia was diagnosed using modified British Thoracic Society criteria.60 patients were recruited (mean age 77 years, mean National Institutes of Health Stroke Scale Score 19.47. Forty-four episodes of pneumonia were identified. Common manifestations on the day of the diagnosis were new onset crackles (43/44, 98%, tachypnoea>25/min (42/44, 95%, and oxygen saturation 38°C were observed in 27 (61%, 25 (57% and 15 (34% episodes respectively. Leucocytosis (WBC>11,000/ml and raised CRP (>10 mg/l were observed in 38 (86% and 43 (97% cases of pneumonia respectively. The area under the ROC curve for CRP was 0.827 (95% CI 0.720, 0.933. The diagnostic cut-off for CRP with an acceptable sensitivity (>0.8 was 25.60 mg/L (Youden index (J 0.515; sensitivity 0.848; specificity 0.667. A cut-off of 64.65 mg/L had the highest diagnostic accuracy (J 0.562; sensitivity 0.636; specificity 0.926.Patients with severe stroke frequently do not manifest key diagnostic features of pneumonia such as pyrexia, cough and purulent sputum early in their illness. The most common signs in this group are new-onset crackles, tachypnoea and hypoxia. Our results suggest that a CRP >25 mg/L should prompt investigations for pneumonia while values >65 mg/L have the highest diagnostic accuracy to justify consideration of this threshold as a diagnostic marker of post-stroke pneumonia.

  18. Diagnostic value and relative weight of sequence-specific magnetic resonance features in characterizing clinically significant prostate cancers

    Science.gov (United States)

    Dagonneau, Tristan; Cros, Fanny; Bratan, Flavie; Roche, Laurent; Mège-Lechevallier, Florence; Ruffion, Alain; Crouzet, Sébastien; Colombel, Marc; Rabilloud, Muriel

    2017-01-01

    Purpose To assess the diagnostic weight of sequence-specific magnetic resonance features in characterizing clinically significant prostate cancers (csPCa). Materials and methods We used a prospective database of 262 patients who underwent T2-weighted, diffusion-weighted, and dynamic contrast-enhanced (DCE) imaging before prostatectomy. For each lesion, two independent readers (R1, R2) prospectively defined nine features: shape, volume (V_Max), signal abnormality on each pulse sequence, number of pulse sequences with a marked (S_Max) and non-visible (S_Min) abnormality, likelihood of extracapsular extension (ECE) and PSA density (dPSA). Overall likelihood of malignancy was assessed using a 5-level Likert score. Features were evaluated using the area under the receiver operating characteristic curve (AUC). csPCa was defined as Gleason ≥7 cancer (csPCa-A), Gleason ≥7(4+3) cancer (csPCa-B) or Gleason ≥7 cancer with histological extraprostatic extension (csPCa-C), Results For csPCa-A, the Signal1 model (S_Max+S_Min) provided the best combination of signal-related variables, for both readers. The performance was improved by adding V_Max, ECE and/or dPSA, but not shape. All models performed better with DCE findings than without. When moving from csPCa-A to csPCa-B and csPCa-C definitions, the added value of V_Max, dPSA and ECE increased as compared to signal-related variables, and the added value of DCE decreased. For R1, the best models were Signal1+ECE+dPSA (AUC = 0,805 [95%CI:0,757–0,866]), Signal1+V_Max+dPSA (AUC = 0.823 [95%CI:0.760–0.893]) and Signal1+ECE+dPSA [AUC = 0.840 (95%CI:0.774–0.907)] for csPCa-A, csPCA-B and csPCA-C respectively. The AUCs of the corresponding Likert scores were 0.844 [95%CI:0.806–0.877, p = 0.11], 0.841 [95%CI:0.799–0.876, p = 0.52]) and 0.849 [95%CI:0.811–0.884, p = 0.49], respectively. For R2, the best models were Signal1+V_Max+dPSA (AUC = 0,790 [95%CI:0,731–0,857]), Signal1+V_Max (AUC = 0.813 [95%CI:0.746–0

  19. Chronic fatigue syndrome and sleep disorders: clinical associations and diagnostic difficulties.

    Science.gov (United States)

    Ferré, A

    2016-02-11

    Chronic fatigue syndrome (CFS) is characterised by the presence of intractable fatigue and non-restorative sleep, symptoms which are also very prevalent in multiple diseases and appear as side effects of different drugs. Numerous studies have shown a high prevalence of sleep disorders in patients with CFS. However, non-restorative sleep and fatigue are frequently symptoms of the sleep disorders themselves, so primary sleep disorders have to be ruled out in many cases of CFS. This review was performed using a structured search of the MeSH terms ([Sleep]+[Chronic fatigue syndrome]) in the PubMed database. Identifying primary sleep disorders in patients meeting diagnostic criteria for CFS will allow for a more comprehensive treatment approach involving new diagnostic and therapeutic strategies that may improve quality of life for these patients. Copyright © 2016 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  20. Selection and evaluation of clinical diagnostic cut point of glycated albumin

    Institute of Scientific and Technical Information of China (English)

    杨静

    2014-01-01

    Objective To investigate the relationship between GA and HbA1c,to identify the optimal GA cut-off values used to diagnose preDM and DM,and to verify the diagnostic significance of blood glucose biomarkers.Methods A total of 20 491 samples from Chinese people were involved in the correlation analysis.The participants were expected to complete the test of FPG,HbA1cand GA.

  1. Depression in the elderly community: I. Prevalence by different diagnostic criteria and clinical profile

    Directory of Open Access Journals (Sweden)

    Concepción de la Cámara

    2008-09-01

    Full Text Available Background and Objectives: Depression is one of the most intriguing disorders in the elderly. We conjecture that prevalence of depression in the community vary according to the diagnostic criteria used. Furthermore, we anticipate that important proportions of depression go untreated or inadequately treated in a Southern European city. Metodology: This report is part of the Zaragoza Study (or ZARADEMP 0, an epidemiological project to document psychiatric morbidity in a representative sample of the elderly. A two - phase design was completed in a sample of n= 1080 elderly (65+ years. Standardized instruments were used, and the Geratric Mental State (GMS was the main instrument. Cases of depression were diagnosed with three different sets of diagnostic criteria: AGECAT syndrome, AGECAT diagnosis and DSM - IV criteria. Descriptive statistics were used. Results: In support of the working hypothesis, the prevalence of depression tended to be lower when stringent diagnostic criteria were used. It was 7.0 % with AGECAT syndrome, 5.7% with AGECAT diagnosis among the cases, 4.8% with DSM - IV criteria. Anxiety, co - morbid syndromes were frequent among the cases (45.5% and 18.2% of them had co - morbid AGECAT organic syndromes. Differential psychopathological profiles are observed between cases of major and minor depression. Undertreament or inadequate treatment was very frequent, and only 54.5% of major depression cases were on antidepressants. Conclusions: The prevalence of depression in the elderly varies according to diagnostic criteria used, and does not increase with age. Co-morbid anxiety and "organic" syndromes are common, and only half the major depressive cases were on antidepressants.

  2. On-table Diagnostic Accuracy and the Clinical Significance of Routine Exploration in Open Appendectomies

    Directory of Open Access Journals (Sweden)

    Cheuk Fan Shum

    2005-10-01

    Conclusion: Based on these results, it seems that the on-table diagnostic accuracy in open appendectomies is low and surgeons' on-table diagnosis should not be the determining factor for whether further exploration is necessary. Exploration for other intra-abdominal pathology should be routine irrespective of the on-table diagnosis, the surgeon's experience and patient gender and age. An alternative is minimal-access surgery in which inspection of other intra-abdominal organs can be performed more easily.

  3. Clinical and diagnostic role of autoantibodies to gangliosides of peripheral nerves: literature review and own expirience

    Directory of Open Access Journals (Sweden)

    N. A. Suponeva

    2013-01-01

    Full Text Available The study of anti-glycolipid antibodies has become available to general practice in Russia. Indications for determining antibodies to gangliosidesare Guillain–Barré syndrome, Miller Fisher syndrome, Bickerstaff’s encephalitis, chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy. The indication for measuring anti-MAG antibodies is IgM paraprotein-associated polyneuropathy. These immunological tests must be included in diagnostic protocols if the listed dysimmune diseases are suspected.

  4. Impact of Clinical Experience and Diagnostic Performance in Patients with Acute Abdominal Pain

    Directory of Open Access Journals (Sweden)

    Helena Laurell

    2015-01-01

    Full Text Available Background. The aims were to evaluate the importance of the formal competence of the emergency department physician, the patient’s time of arrival at the emergency department, and the use of a structured schedule for investigation of patients with acute abdominal pain. Methods. Patients attending the Mora Hospital with acute abdominal pain from 1997 to 2000 were registered prospectively according to a structured schedule. Registration included history, symptoms, signs, preliminary diagnosis, surgery and final diagnosis after at least one year.  Results. 3073 acute abdominal pain patients were included. The preliminary diagnosis, as compared with the final diagnosis, was correct in 54% (n=1659. Previously, during 1996, a base-line registration of 790 patients had a 58% correct diagnoses  (n=458. A majority of the patients (n=2699; 88% were managed by nonspecialists. The proportion of correct diagnoses was 54% (n=759 for pre-registrar house officers and 55% (n=443 for senior house officers. Diagnostic performance at the emergency department was independent of patient’s time of arrival. Conclusions. A structured schedule for investigation did not improve the diagnostic precision at the emergency department in patients with acute abdominal pain. The diagnostic performance was independent of the formal competence of the physician and the patient's time of arrival.

  5. Teaching Posttraining : Influencing Diagnostic Strategy with Instructions at Test

    Science.gov (United States)

    Kulatunga-Moruzi, Chan; Brooks, Lee R.; Norman, Geoffrey R.

    2011-01-01

    It is believed that medical diagnosis involves two complementary processes, analytic and similarity-based. There is considerable debate as to which of these processes defines diagnostic expertise and how best to teach clinical diagnosis and reduce diagnostic errors. The purpose of these studies is to document the use of these strategies in medical…

  6. Teaching Posttraining : Influencing Diagnostic Strategy with Instructions at Test

    Science.gov (United States)

    Kulatunga-Moruzi, Chan; Brooks, Lee R.; Norman, Geoffrey R.

    2011-01-01

    It is believed that medical diagnosis involves two complementary processes, analytic and similarity-based. There is considerable debate as to which of these processes defines diagnostic expertise and how best to teach clinical diagnosis and reduce diagnostic errors. The purpose of these studies is to document the use of these strategies in medical…

  7. Children with Generalised Joint Hypermobility and Musculoskeletal Complaints: State of the Art on Diagnostics, Clinical Characteristics, and Treatment

    Directory of Open Access Journals (Sweden)

    M. C. Scheper

    2013-01-01

    Full Text Available Introduction. To provide a state of the art on diagnostics, clinical characteristics, and treatment of paediatric generalised joint hypermobility (GJH and joint hypermobility syndrome (JHS. Method. A narrative review was performed regarding diagnostics and clinical characteristics. Effectiveness of treatment was evaluated by systematic review. Searches of Medline and Central were performed and included nonsymptomatic and symptomatic forms of GJH (JHS, collagen diseases. Results. In the last decade, scientific research has accumulated on all domains of the ICF. GJH/JHS can be considered as a clinical entity, which can have serious effects during all stages of life. However research regarding the pathological mechanism has resulted in new potential opportunities for treatment. When regarding the effectiveness of current treatments, the search identified 1318 studies, from which three were included (JHS: n=2, Osteogenesis Imperfecta: n=1. According to the best evidence synthesis, there was strong evidence that enhancing physical fitness is an effective treatment for children with JHS. However this was based on only two studies. Conclusion. Based on the sparsely available knowledge on intervention studies, future longitudinal studies should focus on the effect of physical activity, fitness, and joint stabilisation. In JHS and chronic pain, the effectiveness of a multidisciplinary approach should be investigated.

  8. Clinical presentation, diagnostic findings and long-term survival in large breed dogs with meningoencephalitis of unknown aetiology.

    Science.gov (United States)

    Cornelis, I; Volk, H A; De Decker, S

    2016-08-06

    Although several studies indicate that meningoencephalitis of unknown aetiology (MUA) might affect every dog breed at every age, little is known about clinical presentation, diagnostic findings and long-term survival in large breed dogs. The aim of this study was therefore to compare the clinical presentation, diagnostic findings and long-term survival between large and small/medium breed dogs diagnosed with MUA. One hundred and eleven dogs met the inclusion criteria. 28 (25 per cent) dogs were considered large breed dogs compared with 83 (75 per cent) small/medium breed dogs. Large breed dogs presented significantly more often with a decreased mentation. Age, gender, duration of clinical signs prior to diagnosis, presence of seizures or cluster seizures, variables on complete blood count and cerebrospinal fluid analysis, and all variables on MRI were not significantly different between small/medium and large breed dogs. Median survival time was 281 and 106 days for the large and small/medium breed dogs, respectively, with no significant difference in survival curves for both groups. Although considered not typically affected by MUA, 25 per cent of dogs included in this study were considered large breed dogs. Therefore, MUA should be included in the differential diagnosis for large breed dogs presenting with intracranial neurological signs. If diagnosed with MUA, large breed dogs also carried a guarded prognosis. British Veterinary Association.

  9. Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.

    Science.gov (United States)

    Thomas, Mervyn G; Maconachie, Gail DE; Sheth, Viral; McLean, Rebecca J; Gottlob, Irene

    2017-04-05

    Infantile nystagmus (IN) is a genetically heterogeneous disorder arising from variants of genes expressed within the developing retina and brain. IN presents a diagnostic challenge and patients often undergo numerous investigations. We aimed to develop and assess the utility of a next-generation sequencing (NGS) panel to enhance the diagnosis of IN. We identified 336 genes associated with IN from the literature and OMIM. NimbleGen Human custom array was used to enrich the target genes and sequencing was performed using HiSeq2000. Using reference genome material (NA12878), we show the sensitivity (98.5%) and specificity (99.9%) of the panel. Fifteen patients with familial IN were sequenced using the panel. Two authors were masked to the clinical diagnosis. We identified variants in 12/15 patients in the following genes: FRMD7 (n=3), CACNA1F (n=2), TYR (n=5), CRYBA1 (n=1) and TYRP1 (n=1). In 9/12 patients, the clinical diagnosis was consistent with the genetic diagnosis. In 3/12 patients, the results from the genetic diagnoses (TYR, CRYBA1 and TYRP1 variants) enabled revision of clinical diagnoses. In 3/15 patients, we were unable to determine a genetic diagnosis. In one patient, copy number variation analysis revealed a FRMD7 deletion. This is the first study establishing the clinical utility of a diagnostic NGS panel for IN. We show that the panel has high sensitivity and specificity. The genetic information from the panel will lead to personalised diagnosis and management of IN and enable accurate genetic counselling. This will allow development of a new clinical care pathway for IN.European Journal of Human Genetics advance online publication, 5 April 2017; doi:10.1038/ejhg.2017.44.

  10. Development of diagnostic criteria for serious non-AIDS events in HIV clinical trials

    DEFF Research Database (Denmark)

    Lifson, Alan R; Belloso, Waldo H; Davey, Richard T

    2010-01-01

    PURPOSE: Serious non-AIDS (SNA) diseases are important causes of morbidity and mortality in the HAART era. We describe development of standard criteria for 12 SNA events for Endpoint Review Committee (ERC) use in START, a multicenter international HIV clinical trial. METHODS: SNA definitions were...... was reached. CONCLUSION: HIV clinical trials that include SNA diseases as clinical outcomes should have standardized SNA definitions to optimize event reporting and validation and should have review by an experienced ERC with opportunities for adjudication....

  11. The interaction of popular and clinical diagnostic labeling: the case of embrujado.

    Science.gov (United States)

    Koss-Chioino, J D; Canive, J M

    1993-04-01

    This paper explores the effect of a popular diagnosis of distress, "bewitchment," on diagnosis, treatment and outcomes of psychiatric illness in a small group of Hispanic patients in New Mexico. Two major approaches to such "culture-bound" illnesses in clinical settings are critiqued and synthesized in suggesting a practical way to understand how both folk and psychiatric explanations can affect experience with, and of psychiatric patients who present with their own culturally patterned diagnoses. Further study suggests that clinically focused ethnography can address the issue of change or persistence in both lay and clinical explanations of illness as they interact in a clinical setting.

  12. Costs and clinical outcomes for non-invasive versus invasive diagnostic approaches to patients with suspected in-stent restenosis.

    Science.gov (United States)

    Min, James K; Hasegawa, James T; Machacz, Susanne F; O'Day, Ken

    2016-02-01

    This study compared costs and clinical outcomes of invasive versus non-invasive diagnostic evaluations for patients with suspected in-stent restenosis (ISR) after percutaneous coronary intervention. We developed a decision model to compare 2 year diagnosis-related costs for patients who presented with suspected ISR and were evaluated by: (1) invasive coronary angiography (ICA); (2) non-invasive stress testing strategy of myocardial perfusion imaging (MPI) with referral to ICA based on MPI; (3) coronary CT angiography-based testing strategy with referral to ICA based on CCTA. Costs were modeled from the payer's perspective using 2014 Medicare rates. 56 % of patients underwent follow-up diagnostic testing over 2 years. Compared to ICA, MPI (98.6 %) and CCTA (98.1 %) exhibited lower rates of correct diagnoses. Non-invasive strategies were associated with reduced referrals to ICA and costs compared to an ICA-based strategy, with diagnostic costs lower for CCTA than MPI. Overall 2-year costs were highest for ICA for both metallic as well as BVS stents ($1656 and $1656, respectively) when compared to MPI ($1444 and $1411) and CCTA. CCTA costs differed based upon stent size and type, and were highest for metallic stents >3.0 mm followed by metallic stents 3.0 mm ($1466 vs. $1242 vs. $855 vs. $490, respectively). MPI for suspected ISR results in lower costs and rates of complications than invasive strategies using ICA while maintaining high diagnostic performance. Depending upon stent size and type, CCTA results in lower costs than MPI.

  13. ORF virus infection in children: clinical characteristics, transmission, diagnostic methods, and future therapeutics.

    Science.gov (United States)

    Lederman, Edith R; Austin, Connie; Trevino, Ingrid; Reynolds, Mary G; Swanson, Holly; Cherry, Bryan; Ragsdale, Jennifer; Dunn, John; Meidl, Susan; Zhao, Hui; Li, Yu; Pue, Howard; Damon, Inger K

    2007-08-01

    Orf virus leads to self-limited, subacute cutaneous infections in children who have occupational or recreational contact with infected small ruminants. Breaches in the integument and contact with animals recently vaccinated for orf may be important risk factors in transmission. Common childhood behaviors are likely important factors in the provocation of significant contact (ie, bites) or in unusual lesion location (eg, facial lesions). Clinician recognition is important in distinguishing orf infection from life-threatening cutaneous zoonoses. Recently developed molecular techniques provide diagnostic precision and newer topical therapeutics may hasten healing.

  14. Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C.

    Directory of Open Access Journals (Sweden)

    Jenny Shin

    Full Text Available Niemann-Pick Disease, type C (NPC is a fatal, neurodegenerative, lysosomal storage disorder. It is a rare disease with broad phenotypic spectrum and variable age of onset. These issues make it difficult to develop a universally accepted clinical outcome measure to assess urgently needed therapies. To this end, clinical investigators have defined emerging, disease severity scales. The average time from initial symptom to diagnosis is approximately 4 years. Further, some patients may not travel to specialized clinical centers even after diagnosis. We were therefore interested in investigating whether appropriately trained, community-based assessment of patient records could assist in defining disease progression using clinical severity scores. In this study we evolved a secure, step wise process to show that pre-existing medical records may be correctly assessed by non-clinical practitioners trained to quantify disease progression. Sixty-four undergraduate students at the University of Notre Dame were expertly trained in clinical disease assessment and recognition of major and minor symptoms of NPC. Seven clinical records, randomly selected from a total of thirty seven used to establish a leading clinical severity scale, were correctly assessed to show expected characteristics of linear disease progression. Student assessment of two new records donated by NPC families to our study also revealed linear progression of disease, but both showed accelerated disease progression, relative to the current severity scale, especially at the later stages. Together, these data suggest that college students may be trained in assessment of patient records, and thus provide insight into the natural history of a disease.

  15. Theoretical and practical considerations for teaching diagnostic electronic-nose technologies to clinical laboratory technicians

    Science.gov (United States)

    Alphus D. Wilson

    2012-01-01

    The rapid development of new electronic technologies and instruments, utilized to perform many current clinical operations in the biomedical field, is changing the way medical health care is delivered to patients. The majority of test results from laboratory analyses, performed with these analytical instruments often prior to clinical examinations, are frequently used...

  16. [Consensus statement on the clinical management of non-AIDS defining malignancies. GeSIDA expert panel].

    Science.gov (United States)

    Santos, Jesús; Valencia, Eulalia

    2014-10-01

    This consensus document has been prepared by a panel of experts appointed by GeSIDA. This paper reviews the recommendations on the most important non-AIDS defining malignancies that can affect patients living with AIDS. Lung cancer, hepatocellular carcinoma, anal carcinoma and other less frequent malignancies such as breast, prostate, vagina or colon cancers are reviewed. The aim of the recommendations is to make clinicians who attend to this patients aware of how to prevent, diagnose and treat this diseases. The recommendations for the use of antiretroviral therapy when the patient develops a malignancy are also presented. In support of the recommendations we have used the modified criteria of the Infectious Diseases Society of America. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

  17. The Clinical Utility and Diagnostic Performance of MRI for Identification of Early and Advanced Knee Osteoarthritis: A Systematic Review

    Science.gov (United States)

    Quatman, Carmen E.; Hettrich, Carolyn M.; Schmitt, Laura C.; Spindler, Kurt P.

    2013-01-01

    Background Current diagnostic strategies for detection of structural articular cartilage abnormalities, the earliest structural signs of osteoarthritis, often do not capture the condition until it is too far advanced for the most potential benefit of non-invasive interventions. Purpose Systematically review the literature relative to the following questions: (1) Is MRI a valid, sensitive, specific, accurate and reliable instrument to identify knee articular cartilage abnormalities compared to arthroscopy? (2) Is MRI a sensitive tool that can be utilized to identify early cartilage degeneration? Study Design Systematic Review Methods A systematic search was performed in November 2010 using PubMed MEDLINE (from 1966), CINAHL (from 1982), SPORTDiscus (from 1985), and SCOPUS (from 1996) databases. Results Fourteen level I and 13 level II studies were identified that met inclusion criteria and provided information related to diagnostic performance of MRI compared to arthroscopic evaluation. The diagnostic performance of MRI demonstrated a large range of sensitivities, specificities, and accuracies. The sensitivity for identifying articular cartilage abnormalities in the knee joint was reported between 26–96%. Specificity and accuracy was reported between 50–100% and 49–94%, respectively. The sensitivity, specificity, and accuracy for identifying early osteoarthritis were reported between 0–86%, 48–95%, and 5–94%, respectively. As a result of inconsistencies between imaging techniques and methodological shortcomings of many of the studies, a meta-analysis was not performed and it was difficult to fully synthesize the information to state firm conclusions about the diagnostic performance of MRI. Conclusions There is evidence in some MRI protocols that MRI is a relatively valid, sensitive, specific, accurate, and reliable clinical tool for identifying articular cartilage degeneration. Due to heterogeneity of MRI sequences it is not possible to make definitive

  18. The diagnostic value of xero-mammography in clinically occult breast carcinoma.

    Science.gov (United States)

    Kambouris, T; Kotoulas, K; Pontifex, G

    1984-05-01

    Seventy-four clinically occult breast carcinomas were detected in 7535 patients who were examined clinically and by xeromammography. The criteria by which a diagnosis of clinically occult breast carcinoma was established are described in detail. The most frequent finding of a clinically occult breast carcinoma in the xeromammogram was an irregular mass density 1 cm in diameter or less with microcalcifications. Axillary lymph node metastases were present in 29.7% of the total group of patients, which is much fewer than what might have been expected if the carcinomas had been discovered by palpation during the clinical examination or by the patient herself. This means a better prognosis and a lower death rate from breast carcinoma. Screening xeromammography is encouraged for all women after the age of 40, especially for those who belong to the high-risk group, even though they are quite asymptomatic, as there is hope of detecting cancers before they become palpable.

  19. [Hernia surgery in urology. Part 2: parastomal, trocar and incisional hernias - fundamentals of clinical diagnostics and treatment].

    Science.gov (United States)

    Franz, T; Schwalenberg, T; Dietrich, A; Müller, J; Stolzenburg, J-U

    2013-06-01

    Hernias are a common occurrence with a correspondingly huge clinical and economic impact on the healthcare system. Parastomal and trocar hernias are rare in routine urological work. The therapy of parastomal hernias remains problematic but basically the surgeon is able to use conventional techniques with suture repair or procedures with mesh implantation. The conventional parastomal hernia repair with mesh can be classified into sublay, onlay and intraperitoneal techniques. Furthermore, a relocation of the stoma is possible. Trocar hernias represent a rare but hazardous complication. Due to the increase in keyhole surgery there is also the danger of a rise in their occurrence. Incisional hernias occur frequently in patients who have undergone laparotomy and for repair different surgical techniques and types of meshes are available. This article presents an overview of the epidemiology, pathogenesis, clinical symptoms, diagnostic and therapy of parastomal, trocar and incisional hernias.

  20. Chlamydia trachomatis: milestones in clinical and microbiological diagnostics in the last hundred years: a review.

    Science.gov (United States)

    Budai, Irén

    2007-03-01

    Chlamydia trachomatis an obligate intracellular, Gram-negative bacterium is the causative agent of several acute or chronic, local and systemic human diseases such as trachoma, oculogenital and neonatal infections. It was discovered in 1907 by Halberstaedter and von Prowazek who observed it in conjunctival scrapings from an experimentally infected orangutan. In the last hundred years the detection and study of the intracellular pathogens, including chlamydiae, passed through an enormous evolution. This memorial review is dedicated to these important research and diagnostic discoveries and to the scientists who significantly contributed to this evolution starting from the application of simple light microscopy through the cell culture technique, antibiotic susceptibility, antigen and antibody detection, serotyping, to the real-time nucleic acid amplification and restriction fragment lengths polymorphism analysis. Although the majority of these old and new excellent diagnostic methods have been introduced into the rutine practice, the trachoma has remained one of the leading causes of blindness, and oculogenital chlamydial infections still are the most frequent sexually transmitted bacterial diseases, furthermore lymphogranuloma venereum is a disease emerging in the developed countries at the beginning of the 21 st century.

  1. Application of Massively Parallel Sequencing in the Clinical Diagnostic Testing of Inherited Cardiac Conditions

    Directory of Open Access Journals (Sweden)

    Ivone U. S. Leong

    2014-06-01

    Full Text Available Sudden cardiac death in people between the ages of 1–40 years is a devastating event and is frequently caused by several heritable cardiac disorders. These disorders include cardiac ion channelopathies, such as long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome and cardiomyopathies, such as hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Through careful molecular genetic evaluation of DNA from sudden death victims, the causative gene mutation can be uncovered, and the rest of the family can be screened and preventative measures implemented in at-risk individuals. The current screening approach in most diagnostic laboratories uses Sanger-based sequencing; however, this method is time consuming and labour intensive. The development of massively parallel sequencing has made it possible to produce millions of sequence reads simultaneously and is potentially an ideal approach to screen for mutations in genes that are associated with sudden cardiac death. This approach offers mutation screening at reduced cost and turnaround time. Here, we will review the current commercially available enrichment kits, massively parallel sequencing (MPS platforms, downstream data analysis and its application to sudden cardiac death in a diagnostic environment.

  2. Evaluation of the diagnostic ability of vector parameters characterizing the corneal astigmatism and regularity in clinical and subclinical keratoconus.

    Science.gov (United States)

    Martínez-Abad, Antonio; Piñero, David P; Ruiz-Fortes, Pedro; Artola, Alberto

    2017-04-01

    To evaluate the diagnostic ability of the vector parameters ocular residual astigmatism (ORA), topography disparity (TD) and topographic astigmatism CorT (anterior and total) for the detection of clinical and subclinical keratoconus, and to develop a detection model based on them. This study comprised a total of 61 keratoconus eyes (KC group), 19 eyes with subclinical keratoconus (SKC group) and 100 healthy eyes (control group). In all cases, a complete eye exam was performed including an analysis of the corneal structure with the Sirius system (Costruzione Strumenti Oftalmici, CSO). Likewise, the iASSORT software (ASSORT Pty) was used to calculate in all cases the vector parameters ORA, TD and CorT. Significant differences among groups were found in ORA, TD and CorT (anterior and total) (pkeratoconus was good, whereas anterior and total CorT showed a poorer diagnostic ability. ORA (cutoff 0.925 D, sensitivity/specificity 63.2%/77%) and TD (cutoff 0.710 D, sensitivity/specificity 74%/68%) showed an acceptable diagnostic ability for the detection of subclinical keratoconus, but anterior and total CorT did not. A detection model for subclinical keratoconus was obtained by logistic regression analysis involving TD, anterior corneal spherical aberration and posterior high order aberrations. The vector parameters ORA and TD are useful for the diagnosis of clinical and subclinical keratoconus. In this last condition, the combination of TD with corneal aberrometric data provides a consistent detection model. Copyright © 2016 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

  3. Defining post-stroke pain: diagnostic challenges

    NARCIS (Netherlands)

    Roosink, Meyke; Geurts, Alexander C.H.; IJzerman, Maarten J.

    2010-01-01

    Recently, a new grading system for central post-stroke pain (CPSP) was proposed, which might be used to distinguish patients with stroke who have central neuropathic pain from patients who have peripheral pain. Accordingly, for a CPSP diagnosis, all other causes of pain have to be excluded. Although

  4. What is the Clinical Significance of Cerebrospinal Fluid Biomarkers in Parkinson's disease? Is the Significance Diagnostic or Prognostic?

    Science.gov (United States)

    Kim, Dana; Paik, Jin Hui; Shin, Dong-Woon; Kim, Hak-Su; Park, Chang-Shin; Kang, Ju-Hee

    2014-12-01

    The clinical diagnostic criteria of Parkinson's disease (PD) have limitations in detecting the disease at early stage and in differentiating heterogeneous clinical progression. The lack of reliable biomarker(s) for early diagnosis and prediction of prognosis is a major hurdle to achieve optimal clinical care of patients and efficient design of clinical trials for disease-modifying therapeutics. Numerous efforts to discover PD biomarkers in CSF were conducted. In this review, we describe the molecular pathogenesis of PD and discuss its implication to develop PD biomarkers in CSF. Next, we summarize the clinical utility of CSF biomarkers including alpha-synuclein for early and differential diagnosis, and prediction of PD progression. Given the heterogeneity in the clinical features of PD and none of the CSF biomarkers for an early diagnosis have been developed, research efforts to develop biomarkers to predict heterogeneous disease progression is on-going. Notably, a rapid cognitive decline followed by the development of dementia is a risk factor of poor prognosis in PD. In connection to this, CSF levels of Alzheimer's disease (AD) biomarkers have received considerable attention. However, we still need long-term longitudinal observational studies employing large cohorts to evaluate the clinical utility of CSF biomarkers reflecting Lewy body pathology and AD pathology in the brain. We believe that current research efforts including the Parkinson's Progression Markers Initiative will resolve the current needs of early diagnosis and/or prediction of disease progression using CSF biomarkers, and which will further accelerate the development of disease-modifying therapeutics and optimize the clinical management of PD patients.

  5. The relative diagnostic yields of clinical, FOTI and radiographic examinations for the detection of approximal caries in youngsters

    Directory of Open Access Journals (Sweden)

    Mialhe Fabio

    2009-01-01

    Full Text Available Background: The detection of carious lesions in the initial stages of development is very important in order to prevent the occurrence of cavitation. Aims and Objectives: The aim of the present study was to compare three methods-visual examination, FOTI, and bitewing radiographic examination-for the detection of noncavitated and cavitated approximal carious lesions. Materials and Methods: Seventy students (mean age 14 years with low caries prevalence were examined by three examiners. The tooth surfaces judged as having caries by at least one examiner or one diagnostic method were scheduled for tooth separation. Results: The results showed that the incorporation of FOTI and radiographic examination represented an additional diagnostic yield of 50% and about 110%, respectively, compared to clinical examination alone. Conclusion: We conclude that FOTI or radiographic examination, or both, used as adjuncts to clinical examination, could improve the detection of noncavitated and cavitated approximal carious lesions. Although FOTI should not replace bitewing radiographic examination, it does seem to have additional value for the detection of carious lesions on approximal surfaces of the posterior teeth in school children with low caries prevalence.

  6. Evaluation of the efficiency of biofield diagnostic system in breast cancer detection using clinical study results and classifiers.

    Science.gov (United States)

    Subbhuraam, Vinitha Sree; Ng, E Y K; Kaw, G; Acharya U, Rajendra; Chong, B K

    2012-02-01

    The division of breast cancer cells results in regions of electrical depolarisation within the breast. These regions extend to the skin surface from where diagnostic information can be obtained through measurements of the skin surface electropotentials using sensors. This technique is used by the Biofield Diagnostic System (BDS) to detect the presence of malignancy. This paper evaluates the efficiency of BDS in breast cancer detection and also evaluates the use of classifiers for improving the accuracy of BDS. 182 women scheduled for either mammography or ultrasound or both tests participated in the BDS clinical study conducted at Tan Tock Seng hospital, Singapore. Using the BDS index obtained from the BDS examination and the level of suspicion score obtained from mammography/ultrasound results, the final BDS result was deciphered. BDS demonstrated high values for sensitivity (96.23%), specificity (93.80%), and accuracy (94.51%). Also, we have studied the performance of five supervised learning based classifiers (back propagation network, probabilistic neural network, linear discriminant analysis, support vector machines, and a fuzzy classifier), by feeding selected features from the collected dataset. The clinical study results show that BDS can help physicians to differentiate benign and malignant breast lesions, and thereby, aid in making better biopsy recommendations.

  7. [Clinical and diagnostic considerations on degenerative spino-cerebellar diseases. A clinical and instrumental description of 2 cases].

    Science.gov (United States)

    Trebini, F; Appiotti, A; Scarzella, G

    1990-11-01

    Two cases of spino-cerebellar heredoataxia are reported. The first patient, aged 18, presented the clinical peculiarities of Friedreich's disease; subjected to encephalic CT and encephalomedullary NMR the proved normal; EMG study and visual, acoustic and somatosensorial evoked potentials were not normal but there was nothing specifically wrong. The second patient, aged 30, followed up for more than 10 years, presented the clinical aspects of Pierre Marie disease; stress is laid on encephalic CT examinations carried out at the age of 20 and 30. These were pathological due to the marked dilatation of the IVth ventricle and the basal cisternae; evoked potential changes were aspecific. The nosography is discussed, especially as regards clinical diagnosis, in the absence of typical neuroradiological or other instrumental aspects and, obviously, in the absence of anatomopathological signs.

  8. Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)

    Science.gov (United States)

    Kagami, Masayo; Kurosawa, Kenji; Miyazaki, Osamu; Ishino, Fumitoshi; Matsuoka, Kentaro; Ogata, Tsutomu

    2015-01-01

    Paternal uniparental disomy 14 (UPD(14)pat) and epimutations and microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with a coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios. In this study, we performed comprehensive clinical studies in patients with UPD(14)pat (n=23), epimutations (n=5), and microdeletions (n=6), and revealed several notable findings. First, a unique facial appearance with full cheeks and a protruding philtrum and distinctive chest roentgenograms with increased coat-hanger angles to the ribs constituted the pathognomonic features from infancy through childhood. Second, birth size was well preserved, with a median birth length of ±0 SD (range, −1.7 to +3.0 SD) and a median birth weight of +2.3 SD (range, +0.1 to +8.8 SD). Third, developmental delay and/or intellectual disability was invariably present, with a median developmental/intellectual quotient of 55 (range, 29–70). Fourth, hepatoblastoma was identified in three infantile patients (8.8%), and histological examination in two patients showed a poorly differentiated embryonal hepatoblastoma with focal macrotrabecular lesions and well-differentiated hepatoblastoma, respectively. These findings suggest the necessity of an adequate support for developmental delay and periodical screening for hepatoblastoma in the affected patients, and some phenotypic overlap between UPD(14)pat and related conditions and Beckwith–Wiedemann syndrome. On the basis of our previous and present studies that have made a significant contribution to the clarification of underlying (epi)genetic factors and the definition of clinical findings, we propose the name ‘Kagami–Ogata syndrome' for UPD(14)pat and related conditions. PMID:25689926

  9. Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).

    Science.gov (United States)

    Kagami, Masayo; Kurosawa, Kenji; Miyazaki, Osamu; Ishino, Fumitoshi; Matsuoka, Kentaro; Ogata, Tsutomu

    2015-11-01

    Paternal uniparental disomy 14 (UPD(14)pat) and epimutations and microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with a coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios. In this study, we performed comprehensive clinical studies in patients with UPD(14)pat (n=23), epimutations (n=5), and microdeletions (n=6), and revealed several notable findings. First, a unique facial appearance with full cheeks and a protruding philtrum and distinctive chest roentgenograms with increased coat-hanger angles to the ribs constituted the pathognomonic features from infancy through childhood. Second, birth size was well preserved, with a median birth length of ±0 SD (range, -1.7 to +3.0 SD) and a median birth weight of +2.3 SD (range, +0.1 to +8.8 SD). Third, developmental delay and/or intellectual disability was invariably present, with a median developmental/intellectual quotient of 55 (range, 29-70). Fourth, hepatoblastoma was identified in three infantile patients (8.8%), and histological examination in two patients showed a poorly differentiated embryonal hepatoblastoma with focal macrotrabecular lesions and well-differentiated hepatoblastoma, respectively. These findings suggest the necessity of an adequate support for developmental delay and periodical screening for hepatoblastoma in the affected patients, and some phenotypic overlap between UPD(14)pat and related conditions and Beckwith-Wiedemann syndrome. On the basis of our previous and present studies that have made a significant contribution to the clarification of underlying (epi)genetic factors and the definition of clinical findings, we propose the name 'Kagami-Ogata syndrome' for UPD(14)pat and related conditions.

  10. Clinical relevance of surgical site infection as defined by the criteria of the Centers for Disease Control and Prevention.

    Science.gov (United States)

    Henriksen, N A; Meyhoff, C S; Wetterslev, J; Wille-Jørgensen, P; Rasmussen, L S; Jorgensen, L N

    2010-07-01

    Surgical site infection (SSI) is a common complication after abdominal surgery and the Centers for Disease Control and Prevention (CDC) criteria are commonly used for diagnosis and surveillance. The aim of this study was to evaluate whether SSI diagnosed according to CDC is clinically relevant (CRSSI) and whether there is agreement between evaluations according to the CDC criteria, the ASEPSIS score (Additional treatment, presence of Serous discharge, Erythema, Purulent exudate, Separation of the deep tissues, Isolation of bacteria and duration of Stay) and CRSSI. We included 54 patients diagnosed with SSI and a matched control group (N=46) without SSI according to the CDC criteria after laparotomy. Two blinded experienced surgeons evaluated the hospital records and determined whether patients had CRSSI, based on the following criteria: antibiotic treatment, surgical intervention, prolonged hospital stay or referral to an intensive care unit for SSI. The rate of CRSSI was 38 of 54 (70%) in patients with CDC-diagnosed SSI and none in patients without a CDC-diagnosed SSI. Sixty-one percent of the CDC-diagnosed SSIs were superficial, of which 48% were considered clinically relevant. There was substantial agreement between the CDC criteria and CRSSI [kappa=0.69; 95% confidence interval (CI): 0.55-0.83] and fair agreement between the ASEPSIS score and the CDC criteria (kappa=0.23; 95% CI: 0-0.49) and between the ASEPSIS score and CRSSI (kappa=0.39; 95% CI: 0.17-0.61). The CDC criteria represent a suitable standard definition for monitoring and identifying SSI, even if some cases of less clinically significant superficial SSI are included.

  11. Defining the phenotype of restless legs syndrome/Willis-Ekbom disease (RLS/WED): a clinical and polysomnographic study.

    Science.gov (United States)

    Rinaldi, Fabrizio; Galbiati, Andrea; Marelli, Sara; Cusmai, Maria; Gasperi, Alessandro; Oldani, Alessandro; Zucconi, Marco; Padovani, Alessandro; Ferini Strambi, Luigi

    2016-02-01

    Clinical features variability between familial and sporadic restless legs syndrome/Willis-Ekbom disease (RLS/WED) has been previously reported. With this retrospective cohort study, we aimed to determine the clinical and polysomnographic characteristics of 400 RLS/WED patients. Patients with familial RLS/WED were significantly younger than sporadic RLS/WED, while clinical and polysomnographic characteristics were similar in both groups. No difference was found for the age-at-onset between idiopathic and secondary RLS/WED. Periodic limb movements (PLM) index and REM sleep time were higher in idiopathic RLS/WED. Time of onset of symptoms was in the evening or at bedtime in 28.04 and 37.80% of patients, respectively, while in 21.34% of patients onset was more than 1 h after sleep onset. Impulse control and compulsive behaviours (ICBs) were found in 13.29% patients on dopamine agonist therapy. Our analyses support the hypothesis that patients with a familial history of RLS/WED may have a genetic component. Nevertheless, the dichotomy between early and late onset disease seems to be less sharp than previously reported. A large proportion of RLS/WED patients can have atypical features, therefore making the diagnosis challenging. Some cases can be missed even when the patient refers to a sleep specialist, as revealed by the partial absence of daytime symptoms, the high comorbidity with insomnia and other sleep complaints and the high percentage of symptoms beginning after sleep onset. This draws attention on the importance of a careful evaluation of the patient, to recognize potentially treatable secondary forms of RLS/WED.

  12. HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES

    National Research Council Canada - National Science Library

    E. L. Dadali; A. A. Sharkov; I. V. Sharkova; I. V. Kanivets; F. A. Konovalov; I. A. Akimova

    2016-01-01

    The authors provide a review of the clinical and genetic characteristics of hereditary diseases and syndromes accompanied by febrile convulsions, which is illustrated by examples of their own observations...

  13. Diagnostic Consideration for Sinonasal Wegener’s Granulomatosis Clinically Mistaken for Carcinoma

    Directory of Open Access Journals (Sweden)

    Cristina La Rosa

    2013-01-01

    Full Text Available We report a case of Wegener’s granulomatosis clinically mistaken for carcinoma in a 21-year-old girl presenting with an ulcerated mass of the nasopharynx associated with enlarged laterocervical nodes. The lesion was clinically suspected as malignant on the basis of clinical and radiological findings (namely, computed tomography scan and positron emission tomography. However, multiple biopsies were not conclusive for malignancy showing histological change suggestive of Wegener’s granulomatosis. A serum determination of cANCA supported the diagnosis of Wegener’s granulomatosis. Clinical findings and image studies suggested an erroneous diagnosis of malignancy whereas a definitive diagnosis of Wegener’s granulomatosis was achieved only after repeated biopsies thus leading to a correct therapeutic approach. The Wegener granulomatosis must be added to the list of the differential diagnoses of the masses of the nasopharynx associated with or without enlarged laterocervical nodes.

  14. Diagnostic complexities of eosinophilia.

    Science.gov (United States)

    Montgomery, Nathan D; Dunphy, Cherie H; Mooberry, Micah; Laramore, Andrew; Foster, Matthew C; Park, Steven I; Fedoriw, Yuri D

    2013-02-01

    The advent of molecular tools capable of subclassifying eosinophilia has changed the diagnostic and clinical approach to what was classically called hypereosinophilic syndrome. To review the etiologies of eosinophilia and to describe the current diagnostic approach to this abnormality. Literature review. Eosinophilia is a common, hematologic abnormality with diverse etiologies. The underlying causes can be broadly divided into reactive, clonal, and idiopathic. Classically, many cases of eosinophilia were grouped together into the umbrella category of hypereosinophilic syndrome, a clinical diagnosis of exclusion. In recent years, an improved mechanistic understanding of many eosinophilias has revolutionized the way these disorders are understood, diagnosed, and treated. As a result, specific diagnoses can now be assigned in many cases that were previously defined as hypereosinophilic syndrome. Most notably, chromosomal rearrangements, such as FIP1L1-PDGFRA fusions caused by internal deletions in chromosome 4, are now known to be associated with many chronic eosinophilic leukemias. When present, these specific molecular abnormalities predict response to directed therapies. Although an improved molecular understanding is revolutionizing the treatment of patients with rare causes of eosinophilia, it has also complicated the approach to evaluating and treating eosinophilia. Here, we review causes of eosinophilia and present a framework by which the practicing pathologist may approach this diagnostic dilemma. Finally, we consider recent cases as clinical examples of eosinophilia from a single institution, demonstrating the diversity of etiologies that must be considered.

  15. Cardiac diseases - their clinical features, diagnostic procedures and questions to the radiologist

    Energy Technology Data Exchange (ETDEWEB)

    Maisch, B.

    1983-09-01

    When diagnosing cardiac diseases non-invasively either by radiology, radionuclide studies or echocardiography each method has its values and problems. In coronary artery disease exercise stress testing with or without thallium-201 perfusion scintigraphy, the demonstration of coronary artery calcification and echocardiography are valuable non-invasive methods. Only by coronary arteriography, however, can the degree of stenosis, its localisation and its operability be determined. In heart muscle diseases X-ray and radionuclide angiocardiography demonstrate cardiac dilatation and diminished left ventricular function. In addition echocardiography is the method of choice to distinguish dilated from hypertrophic (obstructive or non obstructive) cardiomyopathy. Pericardial diseases are diagnosed most effectively by echocardiography and, more expensively, by computer tomography. In neoplastic pericardial effusions computer tomography assesses mediastinal tumors most effectively. In valvular heart disease the classical chest X-ray is still of great importance, but echocardiography is more specific and more sensitive. Invasive diagnostic measures (heart catherization) are still mandatory in most valvular diseases.

  16. Molecular method for the detection of Andes hantavirus infection: validation for clinical diagnostics

    Science.gov (United States)

    Vial, Cecilia; Martinez-Valdebenito, Constanza; Rios, Susana; Martinez, Jessica; Vial, Pablo; Ferres, Marcela; Rivera, Juan Carlos; Perez, Ruth; Valdivieso, Francisca

    2016-01-01

    Hantavirus Cardiopulmonary Syndrome is a severe disease caused by exposure to New World hantaviruses. Early diagnosis is difficult due to the lack of specific initial symptoms. Anti-hantavirus antibodies are usually negative until late in the febrile prodrome or the beginning of cardiopulmonary phase while Andes hantavirus (ANDV) RNA genome can be detected before symptoms onset. We analyzed the effectiveness of RTqPCR as a diagnostic tool detecting ANDV-Sout genome in peripheral blood cells from 78 confirmed hantavirus patients and 166 negative controls. Our results indicate that RTqPCR had a low detection limit (~10 copies), with a specificity of 100% and a sensitivity of 94.9%. This suggests the potential for establishing RT-qPCR as the assay of choice for early diagnosis, promoting early effective care of patients and improve other important aspects of ANDV infection management, such as compliance of biosafety recommendations for health personnel in order to avoid nosocomial transmission. PMID:26508102

  17. Effect of clinical specialist physiotherapists in orthopaedic diagnostic setting - A systematic review

    DEFF Research Database (Denmark)

    Trøstrup, Jeanette; Mikkelsen, Lone Ramer; Juhl, Carsten

    Relevance: Patients with musculoskeletal complaints are commonly referred to orthopaedic surgeons (OS) with 20 % of patients in primary care being referred to OS consultation. A high proportion of these referrals is not relevant for surgery and can potentially be managed entirely by physiotherapist...... criteria were studies evaluating adults (18+) with a musculoskeletal complaint referred to orthopaedic outpatient assessment and evaluating patient assessment conducted by CSP. Studies performed in primary care or emergency setting were excluded. Eligibility and methodological quality (SIGN 50 checklists...... are particular wanted in relation to diagnostic tasks. Furthermore extrapolations show a future shortage of doctors but an increasing aging population and amount of musculoskeletal complaints demanding an increasing amount of orthopaedic surgeries (3). Based on this, innovation releasing OS time and concurrently...

  18. [Diagnostic and clinical aspects of complex post-traumatic stress disorder].

    Science.gov (United States)

    Sack, M

    2004-05-01

    The symptomatology of patients suffering in the aftermath of severe and prolonged traumatization is not entirely covered by the diagnostic criteria of post-traumatic stress disorder (PTSD). Consequently, the concept of complex PTSD was proposed, including symptoms of affective dysregulation, dissociation and somatization, alterations in self-perception, altered relationships with others, and altered systems of meaning. Thereby, a variety of symptoms usually classified as co-morbid disorders are combined in a single etiological model. The whole symptomatology is considered as more or less effective adaptation strategies and not primarily as deficits. This understand-ing of the underlying etiology in subjects with complex traumatization opens perspectives for new psychotherapeutic treatment strategies which have already shown effectiveness in daily practice.

  19. Multicenter Evaluation of Clinical Diagnostic Methods for Detection and Isolation of Campylobacter spp. from Stool.

    Science.gov (United States)

    Fitzgerald, Collette; Patrick, Mary; Gonzalez, Anthony; Akin, Joshua; Polage, Christopher R; Wymore, Kate; Gillim-Ross, Laura; Xavier, Karen; Sadlowski, Jennifer; Monahan, Jan; Hurd, Sharon; Dahlberg, Suzanne; Jerris, Robert; Watson, Renee; Santovenia, Monica; Mitchell, David; Harrison, Cassandra; Tobin-D'Angelo, Melissa; DeMartino, Mary; Pentella, Michael; Razeq, Jafar; Leonard, Celere; Jung, Carrianne; Achong-Bowe, Ria; Evans, Yaaqobah; Jain, Damini; Juni, Billie; Leano, Fe; Robinson, Trisha; Smith, Kirk; Gittelman, Rachel M; Garrigan, Charles; Nachamkin, Irving

    2016-05-01

    The use of culture-independent diagnostic tests (CIDTs), such as stool antigen tests, as standalone tests for the detection of Campylobacter in stool is increasing. We conducted a prospective, multicenter study to evaluate the performance of stool antigen CIDTs compared to culture and PCR for Campylobacter detection. Between July and October 2010, we tested 2,767 stool specimens from patients with gastrointestinal illness with the following methods: four types of Campylobacter selective media, four commercial stool antigen assays, and a commercial PCR assay. Illnesses from which specimens were positive by one or more culture media or at least one CIDT and PCR were designated "cases." A total of 95 specimens (3.4%) met the case definition. The stool antigen CIDTs ranged from 79.6% to 87.6% in sensitivity, 95.9 to 99.5% in specificity, and 41.3 to 84.3% in positive predictive value. Culture alone detected 80/89 (89.9% sensitivity) Campylobacter jejuni/Campylobacter coli-positive cases. Of the 209 noncases that were positive by at least one CIDT, only one (0.48%) was positive by all four stool antigen tests, and 73% were positive by just one stool antigen test. The questionable relevance of unconfirmed positive stool antigen CIDT results was supported by the finding that noncases were less likely than cases to have gastrointestinal symptoms. Thus, while the tests were convenient to use, the sensitivity, specificity, and positive predictive value of Campylobacter stool antigen tests were highly variable. Given the relatively low incidence of Campylobacter disease and the generally poor diagnostic test characteristics, this study calls into question the use of commercially available stool antigen CIDTs as standalone tests for direct detection of Campylobacter in stool. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

  20. Evaluation of Diagnostic Values of Clinical Assessment in Determining the Maturation of Arteriovenous Fistulas for Satisfactory Hemodialysis.

    Science.gov (United States)

    Salimi, Fereshteh; Shahabi, Shahab; Talebzadeh, Hamid; Keshavarzian, Amir; Pourfakharan, Mohammad; Safaei, Mansour

    2017-01-01

    Fistulas are the preferred permanent hemodialysis vascular access, but a significant obstacle to increasing their prevalence is the fistula's high "failure to mature" (FTM) rate. This study aimed to identify postoperative clinical characteristics that are predictive of fistula FTM. This descriptive cross-sectional study was performed on 80 end-stage renal disease patients who referred to Al Zahra Hospital, Isfahan, for brachiocephalic fistula placement. After 4 weeks, the clinical criteria (trill, firmness, vein length, and venous engorgement) examined and the fistulas situation divided to favorable or unfavorable by each criterion, and the results comprised with dialysis possibility. Data were analyzed with SPSS version 21. Diagnostic index for CLINICAL examination was calculated. Among the 80 cases, 25 (31.2%) female and 55 (68.8%) male were studied with the mean age of 51.9 (standard deviation = 17) year ranged between 18 and 86 years old. Sixty-two (77.5%) cases had successful hemodialysis. All four clinical assessments were significantly more acceptable in patients with successful dialysis (P < 0.001). According to the results of our study, the accuracy of all physical assessments was above 70% and except vein length other criteria had a sensitivity and negative predictive value of 100%. In this study, firmness of vein has highest specificity and positive predictive value (83.9% and 64.3%, respectively). Results of our study showed that high sensitivity and relatively low specificity of the clinical criterion. It means that unfavorable results of each clinical criterion predict unfavorable dialysis. Clinical evaluation of a newly created fistula 4-6 weeks after surgery should be considered mandatory.

  1. "Pulmonary embolism diagnostics of pregnant patients: What is the recommended clinical pathway considering the clinical value and associated radiation risks of available imaging tests?"

    Science.gov (United States)

    Papadakis, Georgios Z; Karantanas, Apostolos H; Perisinakis, Kostas

    2017-07-28

    Pulmonary embolism (PE) during pregnancy remains the leading preventable cause of maternal morbidity and mortality in the developed countries. Diagnosis of PE in pregnant patients is a challenging clinical problem, since pregnancy-related physiologic changes can mimic signs and symptoms of PE. Patient mismanagement may result into unjustified anticoagulant treatment or unnecessary imaging tests involving contrast-related or/and radiation-related risks for both the expectant mother and embryo/fetus. On the other hand, missing or delaying diagnosis of PE could lead to life-threatening conditions for both the mother and the embryo/fetus. Thus, a timely and accurate diagnostic approach is required for the optimal management of pregnant patients with suspected PE. Aim of the current review is to discuss a pregnancy-specific clinical pathway for the early diagnosis of PE with non-ionizing radiation- and ionizing radiation-based imaging modalities taking into account previously reported data on diagnostic value of available imaging tests, and radiation related concerns. Copyright © 2017 Associazione Italiana di Fisica Medica. Published by Elsevier Ltd. All rights reserved.

  2. Define Project

    DEFF Research Database (Denmark)

    Munk-Madsen, Andreas

    2005-01-01

    "Project" is a key concept in IS management. The word is frequently used in textbooks and standards. Yet we seldom find a precise definition of the concept. This paper discusses how to define the concept of a project. The proposed definition covers both heavily formalized projects and informally...... organized, agile projects. Based on the proposed definition popular existing definitions are discussed....

  3. The Diagnostic Accuracy and Clinical Utility of Three Noninvasive Models for Predicting Liver Fibrosis in Patients with HBV Infection.

    Directory of Open Access Journals (Sweden)

    Zhiqiao Zhang

    Full Text Available To evaluate the diagnostic accuracy and clinical utility of the fibrosis index based on the four factors (FIB-4, aspartate aminotransferase -to-platelet ratio index (APRI, and aspartate aminotransferase-alanine aminotransferase ratio index (AAR for predicting liver fibrosis in patients with HBV infection.From January 2006 to December 2010,a total of 1543 consecutive chronic hepatitis B(CHB patients who underwent liver biopsies were enrolled. FIB-4,APRI, and AAR were calculated.The areas under the receiver-operating characteristic curves (AUROCs were calculated to assess the diagnostic accuracy of these models.The AUROCs of these models were compared by DeLong's test.For further comparisons in different studies,the AUROCs were adjusted to conduct Adjusted AUROCs(ADjAUROCs according to the prevalence of fibrosis stages using the difference between advanced and nonadvanced fibrosis (DANA.For prediction of significant fibrosis,severe fibrosis,and cirrhosis,the AUROCs of FIB-4 were 0.646(ADjAUROC 0.717,0.670(ADjAUROC 0.741, and 0.715(ADjAUROC 0.786 respectively;whereas it were 0.656(ADjAUROC 0.727,0.653(ADjAUROC 0.724 and 0.639(ADjAUROC 0.710 for APRI, 0.498(ADjAUROC 0.569,0.548(ADjAUROC 0.619 and 0.573(ADjAUROC 0.644 for AAR. The further comparisons demonstrated that there were no significant differences of AUROCs between FIB-4 and APRI in predicting significant and severe fibrosis(P > 0.05,while FIB-4 was superior to APRI in predicting cirrhosis(P < 0.001. Further subgroup analysis demonstrated that the diagnostic accuracy of FIB-4 and APRI in patients with normal alanine aminotransferase(ALT were higher than that in patients with elevated ALT.The results demonstrated that FIB-4 and APRI are useful for diagnosis of fibrosis. FIB-4 and APRI have similar diagnostic accuracy in predicting significant and severe fibrosis,while FIB-4 is superior to APRI in predicting cirrhosis. The clinical utility of FIB-4 and APRI for fibrosis need further external

  4. "Galaxy," Defined

    CERN Document Server

    Willman, Beth

    2012-01-01

    A growing number of low luminosity and low surface brightness astronomical objects challenge traditional notions of both galaxies and star clusters. To address this challenge, we propose a definition of galaxy that does not depend on a cold dark matter model of the universe: A galaxy is a gravitationally bound collection of stars whose properties cannot be explained by a combination of baryons and Newton's laws of gravity. We use this definition to critically examine the classification of ultra-faint dwarfs, globular clusters, ultra-compact dwarfs, and tidal dwarfs. While kinematic studies provide an effective diagnostic of the definition in many regimes, they can be less useful for compact or very faint systems. To explore the utility of using the [Fe/H] spread as a diagnostic, we use published spectroscopic [Fe/H] measurements of 16 Milky Way dwarfs and 24 globular clusters to uniformly calculate their [Fe/H] spreads and associated uncertainties. Our principal results are: (i) no known, old star cluster wit...

  5. Clinical relevance of surgical site infection as defined by the criteria of the Centers for Disease Control and Prevention

    DEFF Research Database (Denmark)

    Henriksen, N A; Meyhoff, C S; Wetterslev, J;

    2010-01-01

    (CRSSI) and whether there is agreement between evaluations according to the CDC criteria, the ASEPSIS score (Additional treatment, presence of Serous discharge, Erythema, Purulent exudate, Separation of the deep tissues, Isolation of bacteria and duration of Stay) and CRSSI. We included 54 patients....... There was substantial agreement between the CDC criteria and CRSSI [kappa=0.69; 95% confidence interval (CI): 0.55-0.83] and fair agreement between the ASEPSIS score and the CDC criteria (kappa=0.23; 95% CI: 0-0.49) and between the ASEPSIS score and CRSSI (kappa=0.39; 95% CI: 0.17-0.61). The CDC criteria represent...... a suitable standard definition for monitoring and identifying SSI, even if some cases of less clinically significant superficial SSI are included....

  6. Lack of agreement for defining 'clinical suspicion of rejection' in liver transplantation: a model to select candidates for liver biopsy.

    Science.gov (United States)

    Rodríguez-Perálvarez, Manuel; García-Caparrós, Carmen; Tsochatzis, Emmanuel; Germani, Giacomo; Hogan, Brian; Poyato-González, Antonio; O'Beirne, James; Senzolo, Marco; Guerrero-Misas, Marta; Montero-Álvarez, Jose L; Patch, David; Barrera, Pilar; Briceño, Javier; Dhillon, Amar P; Burra, Patrizia; Burroughs, Andrew K; De la Mata, Manuel

    2015-04-01

    The gold standard to diagnose acute cellular rejection (ACR) after liver transplantation (LT) is histological evaluation, but there is no consensus to select patients for liver biopsy. We aimed to evaluate the agreement among clinicians to select candidates for liver biopsy early after LT. From a protocol biopsy population (n = 690), we randomly selected 100 LT patients in whom the biopsy was taken 7-10 days after LT. The clinical information between LT and protocol biopsy was given to nine clinicians from three transplant centres who decided whether a liver biopsy was needed. The agreement among clinicians to select candidates for liver biopsy was poor: κ = 0.06-0.62, being κ liver biopsy and moderate-severe ACR in the protocol biopsy was κ liver biopsy is very poor. If further validated the proposed model would provide an objective method to select candidates for liver biopsy after LT.

  7. Asymptomatic Alzheimer disease: Defining resilience.

    Science.gov (United States)

    Hohman, Timothy J; McLaren, Donald G; Mormino, Elizabeth C; Gifford, Katherine A; Libon, David J; Jefferson, Angela L

    2016-12-06

    To define robust resilience metrics by leveraging CSF biomarkers of Alzheimer disease (AD) pathology within a latent variable framework and to demonstrate the ability of such metrics to predict slower rates of cognitive decline and protection against diagnostic conversion. Participants with normal cognition (n = 297) and mild cognitive impairment (n = 432) were drawn from the Alzheimer's Disease Neuroimaging Initiative. Resilience metrics were defined at baseline by examining the residuals when regressing brain aging outcomes (hippocampal volume and cognition) on CSF biomarkers. A positive residual reflected better outcomes than expected for a given level of pathology (high resilience). Residuals were integrated into a latent variable model of resilience and validated by testing their ability to independently predict diagnostic conversion, cognitive decline, and the rate of ventricular dilation. Latent variables of resilience predicted a decreased risk of conversion (hazard ratio 0.02, p < 0.001), and slower rates of ventricular dilation (β < -4.7, p < 2 × 10(-15)). These results were significant even when analyses were restricted to clinically normal individuals. Furthermore, resilience metrics interacted with biomarker status such that biomarker-positive individuals with low resilience showed the greatest risk of subsequent decline. Robust phenotypes of resilience calculated by leveraging AD biomarkers and baseline brain aging outcomes provide insight into which individuals are at greatest risk of short-term decline. Such comprehensive definitions of resilience are needed to further our understanding of the mechanisms that protect individuals from the clinical manifestation of AD dementia, especially among biomarker-positive individuals. © 2016 American Academy of Neurology.

  8. Defining responses to therapy and study outcomes in clinical trials of invasive fungal diseases: Mycoses Study Group and European Organization for Research and Treatment of Cancer consensus criteria.

    Science.gov (United States)

    Segal, Brahm H; Herbrecht, Raoul; Stevens, David A; Ostrosky-Zeichner, Luis; Sobel, Jack; Viscoli, Claudio; Walsh, Thomas J; Maertens, Johan; Patterson, Thomas F; Perfect, John R; Dupont, Bertrand; Wingard, John R; Calandra, Thierry; Kauffman, Carol A; Graybill, John R; Baden, Lindsey R; Pappas, Peter G; Bennett, John E; Kontoyiannis, Dimitrios P; Cordonnier, Catherine; Viviani, Maria Anna; Bille, Jacques; Almyroudis, Nikolaos G; Wheat, L Joseph; Graninger, Wolfgang; Bow, Eric J; Holland, Steven M; Kullberg, Bart-Jan; Dismukes, William E; De Pauw, Ben E

    2008-09-01

    Invasive fungal diseases (IFDs) have become major causes of morbidity and mortality among highly immunocompromised patients. Authoritative consensus criteria to diagnose IFD have been useful in establishing eligibility criteria for antifungal trials. There is an important need for generation of consensus definitions of outcomes of IFD that will form a standard for evaluating treatment success and failure in clinical trials. Therefore, an expert international panel consisting of the Mycoses Study Group and the European Organization for Research and Treatment of Cancer was convened to propose guidelines for assessing treatment responses in clinical trials of IFDs and for defining study outcomes. Major fungal diseases that are discussed include invasive disease due to Candida species, Aspergillus species and other molds, Cryptococcus neoformans, Histoplasma capsulatum, and Coccidioides immitis. We also discuss potential pitfalls in assessing outcome, such as conflicting clinical, radiological, and/or mycological data and gaps in knowledge.

  9. Pilomatricoma as a diagnostic pitfall in clinical practice: Report of two cases and review of literature

    Directory of Open Access Journals (Sweden)

    Pant Ishita

    2010-01-01

    Full Text Available Pilomatricoma (PMC is a relatively uncommon benign skin neoplasm arising from the skin adnexa. Since the first description of PMC in 1880, there has been a gradual increase in understanding of the morphologic features and clinical presentation of this tumor. However, difficulties still persist in making clinical and cytologic diagnosis. We report the clinical and histopathological findings of two cases of pilomatricoma. In case 1, a 10-year-old girl presented with a right upper back mass. In case 2, a nine-year-old girl presented with a left ear lobe mass. The clinical findings in both the cases were suggestive of epidermoid/dermoid cyst. However, subsequent histopathologic examination confirmed these cases as pilomatricoma. This report reveals that pilomatricoma is a frequently misdiagnosed entity in clinical practice. The purpose of this article is to create awareness among clinicians on the possibility of pilomatricoma as a cause of solitary skin nodules, especially those on the head, neck or upper extremities.

  10. Clinical characteristics and diagnostic confirmation of Internet addiction in secondary school students in Wuhan, China.

    Science.gov (United States)

    Tang, Jun; Zhang, Yao; Li, Yi; Liu, Lianzhong; Liu, Xiujun; Zeng, Hongling; Xiang, Dongfang; Li, Chiang-Shan Ray; Lee, Tony Szu-Hsien

    2014-06-01

    This study investigated the clinical characteristics of internet addiction using a cross-sectional survey and psychiatric interview. A structured questionnaire consisted of demographics, Symptom Checklist 90, Self-Rating Anxiety Scale, Self-Rating Depression Scale, and Young's Internet Addiction Test (YIAT) was administered to students of two secondary schools in Wuhan, China. Students with a score of 5 or higher on the YIAT were classified as having Internet Addiction Disorder (IAD). Two psychiatrists interviewed students with IAD to confirm the diagnosis and evaluate their clinical characteristics. Of a total of 1076 respondents (mean age 15.4 ± 1.7 years; 54.1% boys), 12.6% (n = 136) met the YIAT criteria for IAD. Clinical interviews ascertained the Internet addiction of 136 pupils and also identified 20 students (14.7% of IAD group) with comorbid psychiatric disorders. Results from multinomial logistic regression indicated that being male, in grade 7-9, poor relationship between parents and higher self-reported depression scores were significantly associated with the diagnosis of IAD. These results advance our understanding of the clinical characteristics of Internet addiction in Chinese secondary school students and may help clinicians, teachers, and other stakeholders better manage this increasingly serious mental condition. © 2014 The Authors. Psychiatry and Clinical Neurosciences © 2014 Japanese Society of Psychiatry and Neurology.

  11. Establishing the diagnostic criteria for eruption disorders based on genetic and clinical data.

    Science.gov (United States)

    Rhoads, Stephanie Golubic; Hendricks, Heather M; Frazier-Bowers, Sylvia A

    2013-08-01

    Proper diagnosis and management of eruption disturbances remains challenging but is critical to a functional occlusion. The objective of this study was to establish definitive criteria to differentiate and diagnose eruption disorders, specifically primary failure of eruption (PFE) and ankylosis. Sixty-four affected persons were placed into 3 cohorts: PFE diagnosed through confirmed PTH1R mutation (n = 11), PFE diagnosed based on clinical criteria (n = 47), and ankylosis diagnosed based on clinical criteria (n = 6). These groups were assessed to identify clinical features that differentiate PFE and ankylosis. Ninety-three percent of the subjects in the genetic and clinical PFE cohorts combined (n = 58) and 100% in the genetic PFE cohort had at least 1 infraoccluded first permanent molar. Additionally, a novel functional PTH1R mutation, 1092delG, was identified and linked to PFE in the deciduous dentition. An infraoccluded, supracrestal first molar is a hallmark of PFE, often involving both arches in the permanent or deciduous dentition, and with unilateral or bilateral affection, infraoccluded second premolar or second molar, and multiple affected adjacent teeth. Our results further suggest that PFE and ankylosis might be clinically indistinguishable without knowledge of prior trauma, treatment history, genetic information, or obliteration of the periodontal ligament space. Copyright © 2013 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  12. Clinical utility of microRNA-378 as early diagnostic biomarker of human cancers: a meta-analysis of diagnostic test

    Science.gov (United States)

    Li, Zhan-Zhan; Shen, Liang-Fang; Li, Yan-Yan; Chen, Peng; Chen, Li-Zhang

    2016-01-01

    A meta-analysis was performed to evaluate the diagnostic value of miR-378 for detecting human cancers. Systematic electronic searches were conducted in PubMed, Web of Science, Embase, China National Knowledge Infrastructure, and Wanfang from the inception to January 15, 2016. We used the bivariate mixed effects models to estimate the combined sensitivity, specificity, PLRs (positive likelihood ratios), NLR (negative likelihood ratios), DORs (diagnostic odds ratios) and their 95% CI (confidence intervals) for assessing the diagnostic performance of miR-378 for cancers. Twelve studies were included in the meta-analysis, with a total number of 1172 cancer patients and 809 health controls. The overall estimated sensitivity and specificity were 0.75 and 0.74. The pooled PLR was 2.91, NLR was 0.34, DOR was 8.50, and AUC (Area Under the Curve) was 0.81. The subgroup analyses suggested that AUC for plasma-based is higher than serum-based. The overall diagnostic values of miR-378 in the present meta-analyses are moderate accurate for human cancers; The source of specimen has an effect on the diagnostic accuracy. The diagnostic value of serum-based was higher than that of plasma-based. PMID:27448977

  13. Diagnostic value of magnetic resonance lymphography in preoperative staging of clinically negative necks in squamous cell carcinoma of the oral cavity: A pilot study

    NARCIS (Netherlands)

    Wensing, B.M.; Deserno, W.M.L.L.G.; Bondt, R.B. de; Marres, H.A.M.; Merkx, M.A.W.; Barentsz, J.O.; Hoogen, F.J. van den

    2011-01-01

    Pilot study evaluating the diagnostic value of magnetic resonance lymphography (MRL) compared with conventional imaging techniques in the preoperative staging of the clinically (palpable) negative neck (cN0) in squamous cell carcinoma of the oral cavity (SCCOC). Patients with SCCOC without clinical

  14. Clinical value of component-resolved diagnostics in peanut-allergic patients

    DEFF Research Database (Denmark)

    Eller, E; Bindslev-Jensen, C

    2013-01-01

    As replacement for the oral food challenge, decision-points for sensitization test have been established, but suboptimal sensitivity and/or specificity, as well as regional differences, have reduced the clinical usability. IgE toward specific peanut protein components has been reported to be of v......As replacement for the oral food challenge, decision-points for sensitization test have been established, but suboptimal sensitivity and/or specificity, as well as regional differences, have reduced the clinical usability. IgE toward specific peanut protein components has been reported...... to be of value, but data on correlation with clinical data are sparse. Our aim was to correlate IgE values with the outcome of peanut challenges....

  15. HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES

    Directory of Open Access Journals (Sweden)

    E. L. Dadali

    2016-01-01

    Full Text Available The authors provide a review of the clinical and genetic characteristics of hereditary diseases and syndromes accompanied by febrile convulsions, which is illustrated by examples of their own observations. The paper sets forth the possibilities and limitations of using current methods for the molecular genetic diagnosis of idiopathic and symptomatic epilepsies. The most effective and less expensive technique of molecular genetic analysis is shown to be an exome sequencing test using the panels of genes responsible for the occurrence of diseases with simi1ar clinical symptoms. The paper also presents the structure of the panel of genes responsible for the occurrence of monogenic epilepsies, which has been designed at the Genomed Clinic and includes 448 genetic variants. It also determines the significance of using a chromosomal microarray analysis to diagnose both chromosomal and monogenic diseases accompanied by convulsions. 

  16. Clinical features, diagnostic challenges, and management strategies in checkpoint inhibitor-related pneumonitis.

    Science.gov (United States)

    Chuzi, Sarah; Tavora, Fabio; Cruz, Marcelo; Costa, Ricardo; Chae, Young Kwang; Carneiro, Benedito A; Giles, Francis J

    2017-01-01

    Immune checkpoint inhibitors, including cytotoxic T-lymphocyte antigen 4 (CTLA-4) and programmed cell death-1 (PD-1) inhibitors, represent an effective treatment modality for multiple malignancies. Despite the exciting clinical benefits, checkpoint inhibition is associated with a series of immune-related adverse events (irAEs), many of which can be life-threatening and result in significant treatment delays. Pneumonitis is an adverse event of special interest as it led to treatment-related deaths in early clinical trials. This review summarizes the incidence of pneumonitis during treatment with the different checkpoint inhibitors and discusses the prognostic significance of tumor type. The wide range of clinical, radiographic, and histologic characteristics of checkpoint inhibitor-related pneumonitis is reviewed and followed by guidance on the different management strategies.

  17. [BMW diagnostic criteria for IBS].

    Science.gov (United States)

    Matsueda, Kei

    2006-08-01

    Rome I diagnostic criteria for IBS was published in 1992 and it became a global diagnostic criteria. However, the criteria was not practical and somewhat complicated. Moreover, its symptomatic duration was too long (defined as more than 3 months) to be introduced in clinical practice. Therefore, Japanese member of BMW(Bowel Motility Workshop) tried to develop a new diagnostic criteria for IBS and it was established in 1995 by way of the Delphi method. The criteria was named as BMW diagnostic criteria and it was shown below: BMW diagnostic criteria for IBS (1995) At least one month or more of repetitive symptoms of the following 1) and 2) and no evidence of organic disease that likely to explain the symptoms. 1) Existence of abdominal pain, abdominal discomfort or abdominal distension 2) Existence of abnormal bowel movement (diarrhea, constipation) Abnormal bowel movement includes at least one of the below; (1) Abnormal stool frequency (2) Abnormal stool form (lumpy/hard or loose/wartery stool) Moreover, the following test should be performed as a rule to exclude organic diseases. (1) Urinalysis, fecal occult blood testing, CBC, chemistry (2) Barium enema or colonofiberscopic examination The other diagnostic criteria for IBS was also reviewed and their characteristics were compared with BMW diagnostic criteria.

  18. The Diagnostic importance of clinical and radiologic features of the Multiple Cemento-osseous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Han, M. R.; Kim, Y. H.; Kang, B. C. [College of Dentistry, Chonam National University, Kwangju (Korea, Republic of)

    1998-02-15

    This case was diagnosed as multiple cementoosseous dysplasia on the basis of clinical and radiological features but was diagnosed as ossifying fibroma on the basis of histopathological feature. The histopathologic features of the multiple cementoosseous dysplasia and cementoossifying fibroma have common features of cementum, fibrous network and bone. Multiple cementoosseous dysplasia is reactive lesion and shows restricted lesion size, occurred on anterior and posterior tooth of the mandible and needs no treatment except periodic follow up. But Cementoossifying fibroma is the true neoplasm and grows continuously and needs surgical removal. The final diagnosis of the multiple cementoosseous dysplasia requires good correlation of the clinical histopathological, and radiological features.

  19. NMR-based metabolomics of prostate cancer: a protagonist in clinical diagnostics.

    Science.gov (United States)

    Kumar, Deepak; Gupta, Ashish; Nath, Kavindra

    2016-06-01

    Advances in the application of NMR spectroscopy-based metabolomic profiling of prostate cancer comprises a potential tactic for understanding the impaired biochemical pathways arising due to a disease evolvement and progression. This technique involves qualitative and quantitative estimation of plethora of small molecular weight metabolites of body fluids or tissues using state-of-the-art chemometric methods delivering an important platform for translational research from basic to clinical, to reveal the pathophysiological snapshot in a single step. This review summarizes the present arrays and recent advancements in NMR-based metabolomics and a glimpse of currently used medical imaging tactics, with their role in clinical diagnosis of prostate cancer.

  20. Quality of referral: What information should be included in a request for diagnostic imaging when a patient is referred to a clinical radiologist?

    Science.gov (United States)

    G Pitman, Alexander

    2017-06-01

    Referral to a clinical radiologist is the prime means of communication between the referrer and the radiologist. Current Australian and New Zealand government regulations do not prescribe what clinical information should be included in a referral. This work presents a qualitative compilation of clinical radiologist opinion, relevant professional recommendations, governmental regulatory positions and prior work on diagnostic error to synthesise recommendations on what clinical information should be included in a referral. Recommended requirements on what clinical information should be included in a referral to a clinical radiologist are as follows: an unambiguous referral; identity of the patient; identity of the referrer; and sufficient clinical detail to justify performance of the diagnostic imaging examination and to confirm appropriate choice of the examination and modality. Recommended guideline on the content of clinical detail clarifies when the information provided in a referral meets these requirements. High-quality information provided in a referral allows the clinical radiologist to ensure that exposure of patients to medical radiation is justified. It also minimises the incidence of perceptual and interpretational diagnostic error. Recommended requirements and guideline on the clinical detail to be provided in a referral to a clinical radiologist have been formulated for professional debate and adoption. © 2017 The Royal Australian and New Zealand College of Radiologists.

  1. The Diagnostic Validity of Clinical Tests in Temporomandibular Internal Derangement: A Systematic Review and Meta-analysis.

    Science.gov (United States)

    Chaput, Eve; Gross, Anita; Stewart, Ryan; Nadeau, Gordon; Goldsmith, Charlie H

    2012-01-01

    To assess the diagnostic validity of clinical tests for temporomandibular internal derangement relative to magnetic resonance imaging (MRI). MEDLINE and Embase were searched from 1994 through 2009. Independent reviewers conducted study selection; risk of bias was assessed using Quality Assessment of studies of Diagnostic Accuracy included in Systematic reviews (QUADAS); ≥9/14) and data abstraction. Overall quality of evidence was profiled using Grading of Recommendations Assessment, Development, and Evaluation (GRADE). Agreement was measured using quadratic weighted kappa (κw). Positive (+) or negative (-) likelihood ratios (LR) with 95% CIs were calculated and pooled using the DerSimonian-Laird method and a random-effects model when homogeneous (I(2)≥0.40, Q-test p≤0.10). We selected 8 of 36 studies identified. There is very low quality evidence that deflection (+LR: 6.37 [95% CI, 2.13-19.03]) and crepitation (LR:5.88 [95% CI, 1.95-17.76]) as single tests and crepitation, deflection, pain, and limited mouth opening as a cluster of tests are the most valuable for ruling in internal derangement without reduction (+LR:6.37 [95% CI, 2.13-19.03]), (-LR:0.27 [95% CI, 0.11-0.64]) while the test cluster click, deviation, and pain rules out internal derangement with reduction (-LR: 0.09 [95% CI, 0.01-0.72]). No single test or cluster of tests was conclusive and of significant value for ruling in internal derangement with reduction. Findings of this review will assist clinicians in deciding which diagnostic tests to use when internal derangement is suspected. The literature search revealed a lack of high-quality studies; further research with adequate description of patient populations, blinded assessments, and both sagittal and coronal MRI planes is therefore recommended. Purpose: To assess the diagnostic validity of clinical tests for temporomandibular internal derangement relative to magnetic resonance imaging (MRI). Methods: MEDLINE and Embase were searched from

  2. Quality-controlled small-scale production of a well-defined bacteriophage cocktail for use in human clinical trials.

    Directory of Open Access Journals (Sweden)

    Maya Merabishvili

    Full Text Available We describe the small-scale, laboratory-based, production and quality control of a cocktail, consisting of exclusively lytic bacteriophages, designed for the treatment of Pseudomonas aeruginosa and Staphylococcus aureus infections in burn wound patients. Based on successive selection rounds three bacteriophages were retained from an initial pool of 82 P. aeruginosa and 8 S. aureus bacteriophages, specific for prevalent P. aeruginosa and S. aureus strains in the Burn Centre of the Queen Astrid Military Hospital in Brussels, Belgium. This cocktail, consisting of P. aeruginosa phages 14/1 (Myoviridae and PNM (Podoviridae and S. aureus phage ISP (Myoviridae was produced and purified of endotoxin. Quality control included Stability (shelf life, determination of pyrogenicity, sterility and cytotoxicity, confirmation of the absence of temperate bacteriophages and transmission electron microscopy-based confirmation of the presence of the expected virion morphologic particles as well as of their specific interaction with the target bacteria. Bacteriophage genome and proteome analysis confirmed the lytic nature of the bacteriophages, the absence of toxin-coding genes and showed that the selected phages 14/1, PNM and ISP are close relatives of respectively F8, phiKMV and phage G1. The bacteriophage cocktail is currently being evaluated in a pilot clinical study cleared by a leading Medical Ethical Committee.

  3. \\Defining Patient Advocacy for the Context of Clinical Ethics Consultation: A Review of the Literature and Recommendations for Consultants.

    Science.gov (United States)

    Brazg, Tracy; Lindhorst, Taryn; Dudzinski, Denise; Wilfond, Benjamin

    2016-01-01

    The idea of patient advocacy as a function of clinical ethics consultation (CEC) has been debated in the bioethics literature. In particular, opinion is divided as to whether patient advocacy inherently is in conflict with the other duties of the ethics consultant, especially that of impartial mediator. The debate is complicated, however, because patient advocacy is not uniformly conceptualized. This article examines two literatures that are crucial to understanding patient advocacy in the context of bioethical deliberations: the CEC literature and the literature on advocacy in the social work profession. A review of this literature identifies four distinct approaches to patient advocacy that are relevant to CEC: (1) the best interest approach, (2) the patient rights approach, (3) the representational approach, and (4) the empowerment approach. After providing a clearer understanding of the varied meanings of patient advocacy in the context of CEC, we assert that patient advocacy is not inherently inconsistent with the function of the ethics consultant and the CEC process. Finally, we provide a framework to help consultants determine if they should adopt an advocacy role.

  4. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes.

    Science.gov (United States)

    Rumi, Elisa; Pietra, Daniela; Ferretti, Virginia; Klampfl, Thorsten; Harutyunyan, Ashot S; Milosevic, Jelena D; Them, Nicole C C; Berg, Tiina; Elena, Chiara; Casetti, Ilaria C; Milanesi, Chiara; Sant'antonio, Emanuela; Bellini, Marta; Fugazza, Elena; Renna, Maria C; Boveri, Emanuela; Astori, Cesare; Pascutto, Cristiana; Kralovics, Robert; Cazzola, Mario

    2014-03-06

    Patients with essential thrombocythemia may carry JAK2 (V617F), an MPL substitution, or a calreticulin gene (CALR) mutation. We studied biologic and clinical features of essential thrombocythemia according to JAK2 or CALR mutation status and in relation to those of polycythemia vera. The mutant allele burden was lower in JAK2-mutated than in CALR-mutated essential thrombocythemia. Patients with JAK2 (V617F) were older, had a higher hemoglobin level and white blood cell count, and lower platelet count and serum erythropoietin than those with CALR mutation. Hematologic parameters of patients with JAK2-mutated essential thrombocythemia or polycythemia vera were related to the mutant allele burden. While no polycythemic transformation was observed in CALR-mutated patients, the cumulative risk was 29% at 15 years in those with JAK2-mutated essential thrombocythemia. There was no significant difference in myelofibrotic transformation between the 2 subtypes of essential thrombocythemia. Patients with JAK2-mutated essential thrombocythemia and those with polycythemia vera had a similar risk of thrombosis, which was twice that of patients with the CALR mutation. These observations are consistent with the notion that JAK2-mutated essential thrombocythemia and polycythemia vera represent different phenotypes of a single myeloproliferative neoplasm, whereas CALR-mutated essential thrombocythemia is a distinct disease entity.

  5. Clinical utility of the cryptococcal antigen lateral flow assay in a diagnostic mycology laboratory.

    Directory of Open Access Journals (Sweden)

    Brendan J McMullan

    Full Text Available BACKGROUND: Cryptococcus neoformans causes life-threatening meningitis. A recently introduced lateral flow immunoassay (LFA to detect cryptococcal antigen (CRAG is reportedly more rapid and convenient than standard latex agglutination (LA, but has not yet been evaluated in a diagnostic laboratory setting. METHODS: One hundred and six serum, 42 cerebrospinal fluid (CSF, and 20 urine samples from 92 patients with known or suspected cryptococcosis were tested by LA and LFA, and titres were compared. Results were correlated with laboratory-confirmed cryptococcosis. Serial samples were tested in nine treated patients. RESULTS: Twenty-five of 92 patients had confirmed cryptococcosis; all sera (n = 56 from these patients were positive by LFA (sensitivity 100%, 95% confidence interval (CI 93.6-100% compared with 51/56 positive by LA (sensitivity 91.1%, 95% CI 80.7-96.1%. Fifty sera from 67 patients without cryptococcosis tested negative in both assays. While LA yielded more false negative results (5/56 this did not reach statistical significance (p = 0.063. Nine CSF samples from patients with cryptococcal meningitis yielded positive results using both assays while 17/18 urine samples from patients with cryptococcosis were positive by the LFA. The LFA detected CRAG in C. gattii infection (n = 4 patients. Agreement between titres obtained by both methods (n = 38 samples was imperfect; correlation between log-transformed titres (r was 0.84. Turn-around-time was 20 minutes for the LFA and 2 h for LA. The cost per qualitative sample was 18USD and 91 USD, respectively and per quantitative sample was 38USD and 144USD, respectively. CONCLUSIONS: Qualitative agreement between the LFA and LA assays performed on serum and CSF was good but agreement between titres was imperfect. Ease of performance of the LFA and the capacity for testing urine suggest it has a role in the routine laboratory as a rapid diagnostic test or point-of-care test.

  6. Impact of gender, work, and clinical presentation on diagnostic delay in Italian patients with primary ankylosing spondylitis.

    Science.gov (United States)

    Bandinelli, F; Salvadorini, G; Delle Sedie, A; Riente, L; Bombardieri, S; Matucci-Cerinic, M

    2016-02-01

    The variability of demographic, social, genetic, and clinical factors might influence the time between the onset of symptoms and the diagnosis [diagnostic delay (DD)] of ankylosing spondylitis (AS) in different geographic areas. Different clinical manifestations in men and women affected by AS might indicate a possible role of gender in DD. The aim of the present study was to investigate the influence of demographic, social, genetic, and clinical factors on DD and the differences of DD between men and women related to the presence of different demographic, social, clinical, and genetic parameters in an Italian cohort of primary AS patients. A total of 135 Italian primary AS patients (45 female and 90 male, 27.9 ± 0.89 years old at onset) were studied. The DD, gender, education and work (manual or non-manual) levels, and type of first clinical presentation (inflammatory back pain, arthritis, enthesitis) at onset, family history of AS, and HLA B27 presence were analyzed. The DD (8.744 mean ±0.6869) was significantly higher in men (p = 0.0023), in axial presentation (p = 0.0021), and in manual work (even if with low significance, p = 0.047). The lower DD in women in comparison to that in men was likely related to higher education (p = 0.0045) and work (p = 0.0186) levels, peripheral involvement (p = 0.0009), and HLA B27 positivity (p = 0.0231). DD was higher in AS patients: male, employed in manual jobs, and with axial symptoms at onset. In men, DD seemed to be negatively influenced by lower level of education and work, axial clinical presentation, and HLA B27.

  7. Arthroscopy vs. MRI for a detailed assessment of cartilage disease in osteoarthritis: diagnostic value of MRI in clinical practice

    Directory of Open Access Journals (Sweden)

    Haage Patrick

    2010-04-01

    Full Text Available Abstract Background In patients with osteoarthritis, a detailed assessment of degenerative cartilage disease is important to recommend adequate treatment. Using a representative sample of patients, this study investigated whether MRI is reliable for a detailed cartilage assessment in patients with osteoarthritis of the knee. Methods In a cross sectional-study as a part of a retrospective case-control study, 36 patients (mean age 53.1 years with clinically relevant osteoarthritis received standardized MRI (sag. T1-TSE, cor. STIR-TSE, trans. fat-suppressed PD-TSE, sag. fat-suppressed PD-TSE, Siemens Magnetom Avanto syngo MR B 15 on a 1.5 Tesla unit. Within a maximum of three months later, arthroscopic grading of the articular surfaces was performed. MRI grading by two blinded observers was compared to arthroscopic findings. Diagnostic values as well as intra- and inter-observer values were assessed. Results Inter-observer agreement between readers 1 and 2 was good (kappa = 0.65 within all compartments. Intra-observer agreement comparing MRI grading to arthroscopic grading showed moderate to good values for readers 1 and 2 (kappa = 0.50 and 0.62, respectively, the poorest being within the patellofemoral joint (kappa = 0.32 and 0.52. Sensitivities were relatively low at all grades, particularly for grade 3 cartilage lesions. A tendency to underestimate cartilage disorders on MR images was not noticed. Conclusions According to our results, the use of MRI for precise grading of the cartilage in osteoarthritis is limited. Even if the practical be