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Sample records for clinical discipline diagnostic

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

    PubMed

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

    2009-09-18

    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. Diagnostic test assessment framework with development and validation phases. 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. Sensitivity, specificity, precision, and accuracy of each filter. 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. 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.

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

    PubMed Central

    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

  3. Clinical neuropsychology: a discipline in evolution.

    PubMed

    Costa, L

    1983-02-01

    The future of neuropsychology is considered first in terms of the potential impact of events occurring in clinical medicine, neuroscience research, basic behavioral science and applied psychology, and related disciplines. The focus is then turned inward on clinical neuropsychology itself and a series of suggestions are made concerning how this specialty can evolve to best meet the challenges it will face.

  4. Clinical caring science as a scientific discipline.

    PubMed

    Rehnsfeldt, Arne; Arman, Maria; Lindström, Unni Å

    2016-11-14

    Clinical caring science will be described from a theory of science perspective. The aim of this theoretical article to give a comprehensive overview of clinical caring science as a human science-based discipline grounded in a theory of science argumentation. Clinical caring science seeks idiographic or specific variations of the ontology, concepts and theories, formulated by caring science. The rationale is the insight that the research questions do not change when they are addressed in different contexts. The academic subject contains a concept order with ethos concepts, core and basic concepts and practice concepts that unites systematic caring science with clinical caring science. In accordance with a hermeneutic tradition, the idea of the caring act is based on the degree to which the theory base is hermeneutically appropriated by the caregiver. The better the ethos, essential concepts and theories are understood, the better the caring act can be understood. In order to understand the concept order related to clinical caring science, an example is given from an ongoing project in a disaster context. The concept order is an appropriate way of making sense of the essence of clinical caring science. The idea of the concept order is that concepts on all levels need to be united with each other. A research project in clinical caring science can start anywhere on the concept order, either in ethos, core concepts, basic concepts, practice concepts or in concrete clinical phenomena, as long as no parts are locked out of the concept order as an entity. If, for example, research on patient participation as a phenomenon is not related to core and basic concepts, there is a risqué that the research becomes meaningless. © 2016 Nordic College of Caring Science.

  5. Psychiatry as a Clinical Neuroscience Discipline

    PubMed Central

    Insel, Thomas R.; Quirion, Remi

    2006-01-01

    One of the fundamental insights emerging from contemporary neuroscience is that mental illnesses are brain disorders. In contrast to classic neurological illnesses that involve discrete brain lesions, mental disorders need to be addressed as disorders of distributed brain systems with symptoms forged by developmental and social experiences. While genomics will be important for revealing risk, and cellular neuroscience should provide targets for novel treatments for these disorders, it is most likely that the tools of systems neuroscience will yield the biomarkers needed to revolutionize psychiatric diagnosis and treatment. This essay considers the discoveries that will be necessary over the next two decades to translate the promise of modern neuroscience into strategies for prevention and cures of mental disorders. To deliver on this spectacular new potential, clinical neuroscience must be integrated into the discipline of psychiatry, thereby transforming current psychiatric training, tools, and practices. PMID:16264165

  6. Discipline.

    ERIC Educational Resources Information Center

    Folsom-Cordova Unified School District, Folsom, CA.

    The discipline policy of the Folsom-Cordova Unified School District (California) is delineated in this pamphlet. The policy begins with a seven-point belief statement from the Board of Education which defines discipline and outlines the Board's expectations regarding the carrying out of this policy. Responsibilities are then listed for students,…

  7. Mumps clinical diagnostic uncertainty.

    PubMed

    Magurano, Fabio; Baggieri, Melissa; Marchi, Antonella; Bucci, Paola; Rezza, Giovanni; Nicoletti, Loredana

    2017-06-12

    During recent years, various mumps outbreaks have occurred among populations vaccinated for mumps worldwide. In Italy, improving routine coverage with two doses of measles, mumps and rubella (MMR) vaccine is one of the key strategies to eliminate measles and rubella. To monitor the effect of the vaccination programme on the population, the surveillance of these vaccine-preventable diseases has been implemented. This provided the opportunity to evaluate the accuracy of the clinical diagnosis of those diseases, including mumps. In fact, vaccinated children may develop a variety of diseases caused by a series of different viruses [Epstein-Barr virus (EBV), parainfluenza virus types 1-3, adenoviruses, herpes virus and parvovirus B19] whose symptoms (i.e. swelling of parotid glands) may mimic mumps. For this reason, laboratory diagnosis is essential to confirm clinical suspicion. The accuracy of clinical diagnosis of mumps was evaluated by differential diagnosis on EBV in Italy, a country at low incidence of mumps. This retrospective study investigated whether the etiology of 131 suspected mumps cases with a negative molecular/serological result for mumps virus, obtained from 2007 to 2016, were due to EBV, in order to establish a diagnosis. Differential diagnosis revealed a EBV positivity rate of 19.8% and all cases were caused by EBV type 1. This study confirms the importance of a lab based differential diagnosis that can discriminate between different infectious diseases presenting with symptoms suggestive of mumps and, in particular, emphasize the importance to discriminate between mumps and EBV-related mononucleosis.

  8. Immunosensors in Clinical Laboratory Diagnostics.

    PubMed

    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.

  9. Clinical physiology: a successful academic and clinical discipline is threatened in Sweden.

    PubMed

    Arheden, Håkan

    2009-12-01

    Clinical physiologists in Sweden are physicians (the majority with a PhD degree) with thorough training in system physiology and pathophysiology. They investigate patients in a functional approach and are engaged in basic and applied physiology teaching and research. In 1954, clinical physiology was founded as an independent academic and clinical discipline by the Swedish government to ensure "contact between routine clinical work and the scientific progression." Up until 2008, clinical physiology was an independent clinical discipline but was then made a subdiscipline to radiology, a fundamentally different discipline. Individuals wishing to become clinical physiologists are required to be trained and certified as European radiologists, after which training and certification as clinical physiologists may be pursued. This means that radiologists without training in clinical physiology have become gatekeepers for future clinical physiologists. Unfortunately, this development takes place at a time when research and education in preclinical integrative physiology have diminished in favor of other organizational levels, such as cellular and molecular biology. The responsibilities for education and research in integrative human physiology have therefore mainly been transferred to clinical physiologists. Clinical physiology has been a successful independent clinical discipline in Sweden for the past 55 years and could serve as a model for other countries. Unless clinical physiologists regain control over their own discipline, systems physiology as a knowledge base and resource for patient care, education, and research will be severely impaired.

  10. Malaria Diagnostics in Clinical Trials

    PubMed Central

    Murphy, Sean C.; Shott, Joseph P.; Parikh, Sunil; Etter, Paige; Prescott, William R.; Stewart, V. Ann

    2013-01-01

    Malaria diagnostics are widely used in epidemiologic studies to investigate natural history of disease and in drug and vaccine clinical trials to exclude participants or evaluate efficacy. The Malaria Laboratory Network (MLN), managed by the Office of HIV/AIDS Network Coordination, is an international working group with mutual interests in malaria disease and diagnosis and in human immunodeficiency virus/acquired immunodeficiency syndrome clinical trials. The MLN considered and studied the wide array of available malaria diagnostic tests for their suitability for screening trial participants and/or obtaining study endpoints for malaria clinical trials, including studies of HIV/malaria co-infection and other malaria natural history studies. The MLN provides recommendations on microscopy, rapid diagnostic tests, serologic tests, and molecular assays to guide selection of the most appropriate test(s) for specific research objectives. In addition, this report provides recommendations regarding quality management to ensure reproducibility across sites in clinical trials. Performance evaluation, quality control, and external quality assessment are critical processes that must be implemented in all clinical trials using malaria tests. PMID:24062484

  11. Malaria diagnostics in clinical trials.

    PubMed

    Murphy, Sean C; Shott, Joseph P; Parikh, Sunil; Etter, Paige; Prescott, William R; Stewart, V Ann

    2013-11-01

    Malaria diagnostics are widely used in epidemiologic studies to investigate natural history of disease and in drug and vaccine clinical trials to exclude participants or evaluate efficacy. The Malaria Laboratory Network (MLN), managed by the Office of HIV/AIDS Network Coordination, is an international working group with mutual interests in malaria disease and diagnosis and in human immunodeficiency virus/acquired immunodeficiency syndrome clinical trials. The MLN considered and studied the wide array of available malaria diagnostic tests for their suitability for screening trial participants and/or obtaining study endpoints for malaria clinical trials, including studies of HIV/malaria co-infection and other malaria natural history studies. The MLN provides recommendations on microscopy, rapid diagnostic tests, serologic tests, and molecular assays to guide selection of the most appropriate test(s) for specific research objectives. In addition, this report provides recommendations regarding quality management to ensure reproducibility across sites in clinical trials. Performance evaluation, quality control, and external quality assessment are critical processes that must be implemented in all clinical trials using malaria tests.

  12. Clinical laboratory analytics: Challenges and promise for an emerging discipline.

    PubMed

    Shirts, Brian H; Jackson, Brian R; Baird, Geoffrey S; Baron, Jason M; Clements, Bryan; Grisson, Ricky; Hauser, Ronald George; Taylor, Julie R; Terrazas, Enrique; Brimhall, Brad

    2015-01-01

    The clinical laboratory is a major source of health care data. Increasingly these data are being integrated with other data to inform health system-wide actions meant to improve diagnostic test utilization, service efficiency, and "meaningful use." The Academy of Clinical Laboratory Physicians and Scientists hosted a satellite meeting on clinical laboratory analytics in conjunction with their annual meeting on May 29, 2014 in San Francisco. There were 80 registrants for the clinical laboratory analytics meeting. The meeting featured short presentations on current trends in clinical laboratory analytics and several panel discussions on data science in laboratory medicine, laboratory data and its role in the larger healthcare system, integrating laboratory analytics, and data sharing for collaborative analytics. One main goal of meeting was to have an open forum of leaders that work with the "big data" clinical laboratories produce. This article summarizes the proceedings of the meeting and content discussed.

  13. Clinical laboratory analytics: Challenges and promise for an emerging discipline

    PubMed Central

    Shirts, Brian H.; Jackson, Brian R.; Baird, Geoffrey S.; Baron, Jason M.; Clements, Bryan; Grisson, Ricky; Hauser, Ronald George; Taylor, Julie R.; Terrazas, Enrique; Brimhall, Brad

    2015-01-01

    The clinical laboratory is a major source of health care data. Increasingly these data are being integrated with other data to inform health system-wide actions meant to improve diagnostic test utilization, service efficiency, and “meaningful use.” The Academy of Clinical Laboratory Physicians and Scientists hosted a satellite meeting on clinical laboratory analytics in conjunction with their annual meeting on May 29, 2014 in San Francisco. There were 80 registrants for the clinical laboratory analytics meeting. The meeting featured short presentations on current trends in clinical laboratory analytics and several panel discussions on data science in laboratory medicine, laboratory data and its role in the larger healthcare system, integrating laboratory analytics, and data sharing for collaborative analytics. One main goal of meeting was to have an open forum of leaders that work with the “big data” clinical laboratories produce. This article summarizes the proceedings of the meeting and content discussed. PMID:25774320

  14. Diagnostic discrepancies in clinical practice

    PubMed Central

    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

  15. New dermatological biomedical microscopes for early clinical diagnostics

    NASA Astrophysics Data System (ADS)

    Goldman, Leon

    1993-09-01

    With the current developments in optics, including laser optics, there should be more progress on the development of instrumentation for dermatological diagnostics, even clinical diagnostics. This report introduces new microscopy, much still under development, and research. A frank appeal for this program is made for multi-discipline help from optical physicists, biophysicists, biomedical engineers, even laser biomedical engineers, investigative dermatologists, and pathologists. If one is allowed to say, the most current advanced clinical diagnostic microscope is the polarizing microscope under the stimulus of Rox Anderson, Lynn Drake, Steven Jacques, and Peter Dorogi. The other microscopes for clinical dermatological research to be developed include the confocal scanning microscopy with the emphasis for living tissue, the ultrasonic biomedical microscope (UBM) for dermatology, and the holographic microscope, related to our studies on the biomedical aspects of optical phase conjugation. All these are introduced briefly for our studies and for definite pleas to help us.

  16. The biomedical disciplines and the structure of biomedical and clinical knowledge.

    PubMed

    Nederbragt, H

    2000-11-01

    The relation between biomedical knowledge and clinical knowledge is discussed by comparing their respective structures. The knowledge of a disease as a biological phenomenon is constructed by the interaction of facts and theories from the main biomedical disciplines: epidemiology, diagnostics, clinical trial, therapy development and pathogenesis. Although these facts and theories are based on probabilities and extrapolations, the interaction provides a reliable and coherent structure, comparable to a Kuhnian paradigma. In the structure of clinical knowledge, i.e. knowledge of the patient with the disease, not only biomedical knowledge contributes to the structure but also economic and social relations, ethics and personal experience. However, the interaction between each of the participating "knowledges" in clinical knowledge is not based on mutual dependency and accumulation of different arguments from each, as in biomedical knowledge, but on competition and partial exclusion. Therefore, the structure of biomedical knowledge is different from that of clinical knowledge. This difference is used as the basis for a discussion in which the place of technology, evidence-based medicine and the gap between scientific and clinical knowledge are evaluated.

  17. Rendering clinical psychology an evidence-based scientific discipline: a case study.

    PubMed

    St Stoyanov, Drozdstoj; Machamer, Peter K; Schaffner, Kenneth F

    2012-02-01

    Both modern neuroscience and clinical psychology taken as separate fields have failed to reveal the explanatory mechanisms underlying mental disorders. The evidence acquired inside the mono-disciplinary matrices of neurobiology, clinical psychology and psychopathology are deeply insufficient in terms of their validity, reliability and utility. Further, no effective trans-disciplinary connections have been developed between them. In this context, our case study aims at illustrating some specific facets of clinical psychology as a crucial discipline for explaining and understanding mental disorder. The methods employed in clinical psychology are scrutinized using the exemplar case of the Minnesota Multiphasic Personality Inventory (MMPI). We demonstrate that a clinical interview and a clinical psychological rating scale consist of the same kind of cognitive content. The provisional difference can be described in terms of its having two comparable complementary cognitive structures. The test is composed of self-evaluation reports (items) formulated as questions or statements. The psychopathological structured interview is formulated in terms of subjective experience indicated as symptoms (these are self-reports recorded by the physician), complemented with the so-called 'signs' or the presumably 'objective' observations of the overt behaviours of the patient. However, the cognitive content of clinical judgment is beyond any doubt as subjective as the narrative of the patient. None of the components of the structured psychopathological interview is independent of the inter-subjective system created in the situation of clinical assessment. Therefore, the protocols from various clinicians that serve to sustain the reliability claim of the 'scientific' Diagnostic Statistical Manual of Mental Disorders cannot be regarded as independent measurements of the cognitive content and value of the psychological rating scales or vice versa. © 2011 Blackwell Publishing Ltd.

  18. American Board of Clinical Pharmacology fellowship training and certification in clinical pharmacology: educational value and future needs for the discipline.

    PubMed

    Lewis, L D; Nierenberg, D W

    2007-01-01

    Currently, the training and education of young clinical pharmacologist who represent the future of our discipline rest almost entirely on institutions/organizations with established and productive fellowship training programs. Here, we discuss the role of the American Board of Clinical Pharmacology (ABCP) in accrediting fellowship training programs and certifying individual clinical pharmacologists. We also explore how ABCP certification adds value to both individual trainees and the discipline in the evolving world of clinical therapeutics and research in human pharmacology.

  19. Offering prenatal diagnostic tests: European guidelines for clinical practice [corrected].

    PubMed

    Skirton, Heather; Goldsmith, Lesley; Jackson, Leigh; Lewis, Celine; Chitty, Lyn

    2014-05-01

    For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and non-invasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework.

  20. Quantifying discipline practices using absolute versus relative frequencies: clinical and research implications for child welfare.

    PubMed

    Lindhiem, Oliver; Shaffer, Anne; Kolko, David J

    2014-01-01

    In the parent intervention outcome literatures, discipline practices are generally quantified as absolute frequencies or, less commonly, as relative frequencies. These differences in methodology warrant direct comparison as they have critical implications for study results and conclusions among treatments targeted at reducing parental aggression and harsh discipline. In this study, we directly compared the absolute frequency method and the relative frequency method for quantifying physically aggressive, psychologically aggressive, and nonaggressive discipline practices. Longitudinal data over a 3-year period came from an existing data set of a clinical trial examining the effectiveness of a psychosocial treatment in reducing parental physical and psychological aggression and improving child behavior (N = 139). Discipline practices (aggressive and nonaggressive) were assessed using the Conflict Tactics Scale. The two methods yielded different patterns of results, particularly for nonaggressive discipline strategies. We suggest that each method makes its own unique contribution to a more complete understanding of the association between parental aggression and intervention effects.

  1. [Lipedema: clinical and diagnostic criteria].

    PubMed

    Bilancini, S; Lucchi, M; Tucci, S

    1990-01-01

    Lipedema is a common disease in the usual clinical practice. None organic description about the clinical symptoms and signs associated to this condition has been published. Fifty women with lipedema have been examined by the authors, and incidence rates of symptoms and signs have been emphasized. The following signs and symptoms were constantly reported: "Egyptian column", elastic edema, negative Stemmer's sign, alterated plantar support, cutaneous hypothermia. Some others were frequently found: ecchymosis, spontaneous pain, liposclerosis on the thigh, hypodermic hyperalgesia and pain on the internal face of the knee. Moreover, the two most relevant differential diagnosis as well as their two variant's clinical features (mixed lipedema and "thin women" lipedema) have been described.

  2. Inferences of clinical diagnostic reasoning and diagnostic error.

    PubMed

    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. Clinics in diagnostic imaging (172)

    PubMed Central

    Low, Hsien Min; Chinchure, Dinesh

    2016-01-01

    A 50-year-old Chinese man presented with abdominal pain associated with bloody mucoid stools, loss of appetite and weight loss. Contrast-enhanced computed tomography of the abdomen and pelvis revealed a colocolic intussusception secondary to a lipoma. The patient subsequently underwent a left hemicolectomy. Clinical and imaging findings of intussusception in adults are discussed in this article. PMID:27995264

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

    PubMed

    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.

  5. Clinics in diagnostic imaging (168)

    PubMed Central

    Lai, Yusheng Keefe; Mahmood, Rameysh Danovani

    2016-01-01

    A 16-year-old Chinese male patient presented with constipation lasting five days, colicky abdominal pain, lethargy, weakness and body aches. He was able to pass flatus. Abdominal radiography showed a distended stomach causing inferior displacement of the transverse colon. Computed tomography revealed a dilated oesophagus, stomach and duodenum up to its third portion, with a short aortomesenteric distance and narrow angle. There was also consolidation in the lungs bilaterally. Based on the constellation of clinical and imaging findings, a diagnosis of superior mesenteric artery syndrome complicated by aspiration pneumonia was made. The patient was subsequently started on intravenous hydration, nasogastric tube aspiration and antibiotics. Following stabilisation of his acute condition, a nasojejunal feeding tube was inserted and a feeding plan was implemented to promote weight gain. The clinical presentation, differentials, diagnosis and treatment of superior mesenteric artery syndrome are discussed. PMID:27212130

  6. Clinics in diagnostic imaging (170)

    PubMed Central

    Shah, Mohammad Taufik Bin Mohamed; Wong, Bak Siew Steven

    2016-01-01

    A 30-year-old woman presented with a six-month history of left posterior heel pain. Physical examination revealed a tender, inflamed and indurated posterior heel with a visible bony prominence of the posterosuperior aspect of the calcaneus. Lateral ankle radiography showed a prominent left posterosuperior calcaneal tuberosity and thickening of the distal Achilles tendon outline. Magnetic resonance imaging demonstrated high-signal inflammatory fluid in the retrocalcaneal bursa, increased signal intensity and thickening of the Achilles tendon, and prominence of the posterior calcaneus tuberosity with reactive marrow oedema. The findings are consistent with Haglund’s deformity. The patient underwent hind foot surgery after failing a six-month course of conservative therapy. There was no further recurrence of symptoms after surgery. The clinical and radiological features of Haglund’s deformity are described, including a short discussion of other causes of hind foot pain. PMID:27663032

  7. Clinics in diagnostic imaging (171)

    PubMed Central

    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

  8. [Clinical diagnostics of papillary fibroelastoma].

    PubMed

    Trisvetova, E L

    2007-01-01

    Papillary fibroelastoma (PFE) is a benign heart tumor, the diagnosis of which is difficult. Clinical manifestations of PFE are non-specific and scarce, and for this reason the tumor is often revealed during a heart surgery of an autopsy. PFE affects patients of all ages from neonates to 96-year-old ones and is often localized on valvular cusps, although vegetations may appear on other intracardiac structures. The histogenesis of the tumor is unclear; there are several theories of PFE origin (hemodynamic effects on the myocardium, viral theory, iatrogenic theory etc.) Macroscopically the tumor is small size, villous, whitish-grey, consists of a pedicle and villi of gely-like soft or dense-elastic consistence. The mobility of the tumor and the fragmentation of its tissue lead to its main complications such as obstruction of cardiac cameras (in-flow and out-flow disorders) and embolic syndrome in various basins (the brain, coronary arteries, the eye, the kidneys, and the lungs). The diagnosis of PFE is made using EchoCG, preferably transesophageal one. Treatment of PFE is surgical and consists of tumor or cusp removal. PFE should be differentiated from other benign and malignant heart tumors, infective endocarditis, heart echinococcosis, coronary artery disease, and cerebrovascular diseases.

  9. Clinical and diagnostic evaluation of acoustic neuromas.

    PubMed

    Stucken, Emily Z; Brown, Kevin; Selesnick, Samuel H

    2012-04-01

    In the past century, significant advances have been made in understanding the clinical features of acoustic neuromas. Furthermore, rapid technological advances have led to the development of sensitive, rapid, and relatively noninvasive diagnostic modalities, which has allowed for earlier discovery of acoustic neuromas and has reduced the average tumor size at time of diagnosis. The ultimate result has been improved clinical outcomes after surgery and radiotherapy.

  10. Clinical diagnostic gene expression thyroid testing.

    PubMed

    Steward, David L; Kloos, Richard T

    2014-08-01

    Thyroid fine-needle aspiration biopsies are cytologically indeterminate in 15% to 30% of cases. When cytologically indeterminate thyroid nodules undergo diagnostic surgery, approximately three-quarters prove to be histologically benign. A negative predictive value of more than or equal to 94% for the Afirma Gene Expression Classifier (GEC) is achieved for indeterminate nodules. Most Afirma GEC benign nodules can be clinically observed, as suggested by the National Comprehensive Cancer Network Thyroid Carcinoma Guideline. More than half of the benign nodules with indeterminate cytology (Bethesda categories III/IV) can be identified as GEC benign and removed from the surgical pool to prevent unnecessary diagnostic surgery.

  11. Clinically isolated neurosarcoidosis: a recommended diagnostic path.

    PubMed

    Wegener, Susanne; Linnebank, Michael; Martin, Roland; Valavanis, Anton; Weller, Michael

    2015-01-01

    The involvement of the central nervous system in sarcoidosis can manifest with a variety of neurological symptoms, most of them nonspecific. We identified 13 patients with neurosarcoidosis diagnosed at our clinic. Six of 13 patients presented with clinically isolated neurosarcoidosis (CINS) without signs or symptoms of systemic disease. CINS patients were not different with respect to age, as well as imaging and spinal fluid findings, or disease course. However, we found spinal cord involvement in neurosarcoidosis patients much more common than previously described (in 8 out of 13 patients). Spinal cord affection was associated with older age at diagnosis and a less favorable response to therapy. Based on our findings, we propose a diagnostic path for neurosarcoidosis, including spinal magnetic resonance imaging (MRI) as a mandatory and early step during diagnostic workup.

  12. Quantifying Discipline Practices Using Absolute vs. Relative Frequencies: Clinical and Research Implications for Child Welfare

    PubMed Central

    Lindhiem, Oliver; Shaffer, Anne; Kolko, David J.

    2014-01-01

    In the parent intervention outcome literatures, discipline practices are generally quantified as absolute frequencies or, less commonly, as relative frequencies. These differences in methodology warrant direct comparison as they have critical implications for study results and conclusions among treatments targeted at reducing parental aggression and harsh discipline. In this study, we directly compared the absolute frequency method and the relative frequency method for quantifying physically aggressive, psychologically aggressive, and nonaggressive discipline practices. Longitudinal data over a 3-year period came from an existing data set of a clinical trial examining the effectiveness of a psychosocial treatment in reducing parental physical and psychological aggression and improving child behavior (N = 139; Kolko et al., 2009). Discipline practices (both aggressive and nonaggressive) were assessed using the Conflict Tactics Scale (CTS; Straus et al., 1998). The two methods yielded different patterns of results, particularly for nonaggressive discipline strategies. We suggest that each method makes its own unique contribution to a more complete understanding of the association between parental aggression and intervention effects. PMID:24106146

  13. Assembling Amperometric Biosensors for Clinical Diagnostics

    PubMed Central

    Belluzo, María Soledad; Ribone, María Élida; Lagier, Claudia Marina

    2008-01-01

    Clinical diagnosis and disease prevention routinely require the assessment of species determined by chemical analysis. Biosensor technology offers several benefits over conventional diagnostic analysis. They include simplicity of use, specificity for the target analyte, speed to arise to a result, capability for continuous monitoring and multiplexing, together with the potentiality of coupling to low-cost, portable instrumentation. This work focuses on the basic lines of decisions when designing electron-transfer-based biosensors for clinical analysis, with emphasis on the strategies currently used to improve the device performance, the present status of amperometric electrodes for biomedicine, and the trends and challenges envisaged for the near future. PMID:27879771

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

    PubMed

    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.

  15. The art of measuring gastrin in plasma: a dwindling diagnostic discipline?

    PubMed

    Rehfeld, Jens F

    2008-01-01

    The gastrointestinal hormone gastrin is measured in plasma in physiological, pathophysiological and diagnostic investigations. In the diagnosis of hypergastrinaemic diseases such as gastrinomas and gastric achlorhydria, measurement of gastrin concentrations in circulation is crucial. Gastrin circulates, however, not as a single peptide but as a mixture of peptides of different lengths and amino acid derivatizations. Moreover, in hypergastrinaemia the peptide pattern changes. Consequently, diagnostic gastrin measurements require immunoassays that recognize the pathological plasma patterns, which are characterized by a predominance of the large peptides (gastrin-34 and gastrin-71) and less, if any, of the shorter main form of gastrin in normal tissue, gastrin-17. Alternatively, and in specific cases, "processing-independent assays" (PIA) for progastrin may be considered, since hypersecreting gastrin cells also release substantial amounts of biosynthetic precursors and processing intermediates. Recently, gastrin kits that do not take the pathological plasma patterns into account have been marketed and may miss the diagnosis. Therefore, proper diagnosis of gastrinomas and other hypergastrinaemic diseases requires insight into cellular gastrin synthesis and peripheral metabolism, and also into the design of useful immunoassays. This review discusses the art of measuring gastrin in plasma with adequate diagnostic specificity.

  16. Reducing Diagnostic Error with Computer-Based Clinical Decision Support

    ERIC Educational Resources Information Center

    Greenes, Robert A.

    2009-01-01

    Information technology approaches to delivering diagnostic clinical decision support (CDS) are the subject of the papers to follow in the proceedings. These will address the history of CDS and present day approaches (Miller), evaluation of diagnostic CDS methods (Friedman), and the role of clinical documentation in supporting diagnostic decision…

  17. Reducing Diagnostic Error with Computer-Based Clinical Decision Support

    ERIC Educational Resources Information Center

    Greenes, Robert A.

    2009-01-01

    Information technology approaches to delivering diagnostic clinical decision support (CDS) are the subject of the papers to follow in the proceedings. These will address the history of CDS and present day approaches (Miller), evaluation of diagnostic CDS methods (Friedman), and the role of clinical documentation in supporting diagnostic decision…

  18. The mixed-discipline aged-care student clinic: an authentic interprofessional learning initiative.

    PubMed

    Kent, Fiona; Drysdale, Penni; Martin, Nicola; Keating, Jennifer L

    2014-01-01

    This paper describes the development, methods and results of a novel interprofessional student-led aged care clinic. The clinic was established to facilitate the interprofessional education of students approaching graduation in dietetics, medicine, nursing, occupational therapy, pharmacy, physiotherapy, podiatry, social work, and speech pathology. Students worked together in a primary care clinic established to support patients >70 years old who had recently been discharged home from an acute hospital admission. The students completed a screening interview of patients in mixed-discipline teams, established health care needs, and wrote referrals for appropriate support services. A mixed-methods evaluation approach was taken; the effects of the clinic on students (n=70) and educators (n=14) were evaluated. A subgroup of students (n=42) and educators (n=12) participated in focus groups designed to enable evaluation of learning outcomes. Students reported developing an expanded perspective of issues that affect the health of older people, felt that they gained knowledge about the practical roles and referral pathways of other disciplines, and described enhanced interprofessional communication skills. Educators reported that they observed the students' development of communication and referral skills and expanded awareness of health domains that they would not previously have considered.

  19. Development of emergency medicine as academic and distinct clinical discipline in Bosnia & Herzegovina.

    PubMed

    Salihefendic, Nizama; Zildzic, Muharem; Masic, Izet; Hadziahmetovic, Zoran; Vasic, Dusko

    2011-01-01

    Emergency medicine is a new academic discipline, as well as a recent independent clinical specialization with the specific principles of practice, education and research. It is also a very important segment of the overall health care and health system. Emergency medicine as a distinct specialty was introduced in the U.S. in 1970. Ten years later and relatively quickly emergency medicine was introduced in the health system in Bosnia and Herzegovina as a specialty with a special education program for specialist and a final exam. Compare the development of emergency medicine in Bosnia and Herzegovina with the trends of development of this discipline in the world as a specialization and an academic discipline. Identify specific problems and possible solutions and learn lessons from other countries. Reviewed are the literature data on the development of emergency medicine in the world, programs of undergraduate and postgraduate teaching, the organizational scheme of emergency centers and residency. This is then compared with data of the current status of emergency medicine as an academic discipline and a recognized specialization, in Bosnia and Herzegovina. There are substantial differences in the development of emergency medicine in the United States, European Union and Bosnia and Herzegovina. Although Bosnia and Herzegovina relatively early recognized specialty of emergency medicine in academia, it failed to mach the academic progress with the practical implementation. A&E departments in the Community Health Centers failed to meet the desired objectives even though they were led by specialists in emergency medicine. The main reason being the lack of space and equipment as well as staff needed to meet set standards of good clinical practice, education and research. Furthermore the Curriculum of undergraduate education and specialization does not match modern concept of educational programs that meet the principles set out in emergency medicine and learning through

  20. Development of statistics as a discipline for clinical research: Past, present and future.

    PubMed

    Lele, Chitra

    2017-01-01

    This article traces the history and evolution of statistics in the era of evidence based medicine, and focuses on the Indian perspective of this growth of statistics as a discipline for clinical research. Statistics will assume a more inter disciplinary form. Use of software other than SAS likely to grow further. In India, innovative statistical methods will help propel the development of biosimilars. The future is exciting with statistics being used for real world evidence, development of biosimilars, mining of adverse event data and becoming a core function in medicinal product development and lifecycle maintenance.

  1. Development of statistics as a discipline for clinical research: Past, present and future

    PubMed Central

    Lele, Chitra

    2017-01-01

    This article traces the history and evolution of statistics in the era of evidence based medicine, and focuses on the Indian perspective of this growth of statistics as a discipline for clinical research. Statistics will assume a more inter disciplinary form. Use of software other than SAS likely to grow further. In India, innovative statistical methods will help propel the development of biosimilars. The future is exciting with statistics being used for real world evidence, development of biosimilars, mining of adverse event data and becoming a core function in medicinal product development and lifecycle maintenance. PMID:28194337

  2. [Reiter disease: clinical manifestations and diagnostic criteria].

    PubMed

    Asauliuk, I K; Zamkovaia, N V; Skripets, Iu A

    2001-01-01

    Reiter's disease in the majority of cases has a postenteral and urogenital genesis, with idiopatic one occurring much more seldom. The clinical picture is rather polymorphous, with typical (full) urethro-oculosinovial symptom complex being encountered in 55 percent of patients, partial one--in 33 percent; in 12 percent of patients there is an extensive urethro-oculoarticular symptom complex. Visceral lesions are noted as myocardiodystrophy, myocarditis, breakdown of the liver, damaged kidneys, lungs, pleura, nervous system. Articular affections as polyartritis is encountered in 62 percent of patients, oligoarthritis--in 33 percent, monoarthritis--in 5 percent; there is also clinical evidence of spinal affections together with those of the pelvic bones. With well-timed diagnosis and adequate therapy the disease runs a mild course. Diagnosis of Reiter's disease in the presence of a characteristic triad does not seem to be a formidable challenge to the practising profession. The use of diagnostic criteria permits recognizing the condition in a timely fashion, the knowledge of further and complementary signs helping the physician in conducting a differential diagnosis.

  3. Clinical nurse research consultant: a clinical and academic role to advance practice and the discipline of nursing.

    PubMed

    Currey, Judy; Considine, Julie; Khaw, Damien

    2011-10-01

    This article presents a proposal for the Clinical Nurse Research Consultant, a new nursing role. Although healthcare delivery continues to evolve, nursing has lacked highly specialized clinical and research leadership that, as a primary responsibility, drives evidence-based practice change in collaboration with bedside clinicians. International literature published over the last 25 years in the databases of CINAHL, OVID, Medline Pubmed, Science Direct, Expanded Academic, ESBSCOhost, Scopus and Proquest is cited to create a case for the Clinical Nurse Research Consultant. The Clinical Nurse Research Consultant will address the research/practice gap and assist in facilitating evidence-based clinical practice. To fulfil the responsibilities of this proposed role, the Clinical Nurse Research Consultant must be a doctorally prepared recognized clinical expert, have educational expertise, and possess advanced interpersonal, teamwork and communication skills. This role will enable clinical nurses to maintain and share their clinical expertise, advance practice through research and role model the clinical/research nexus. Critically, the Clinical Nurse Research Consultant must be appointed in a clinical and academic partnership to provide for career progression and role support. The creation of the Clinical Nurse Research Consultant will advance nursing practice and the discipline of nursing. © 2011 The Authors. Journal of Advanced Nursing © 2011 Blackwell Publishing Ltd.

  4. Metabolic myopathies: clinical features and diagnostic approach.

    PubMed

    Smith, Edward C; El-Gharbawy, Areeg; Koeberl, Dwight D

    2011-05-01

    The rheumatologist is frequently called on to evaluate patients with complaints of myalgia, muscle cramps, and fatigue. The evaluation of these patients presents a diagnostic challenge given the nonspecific and intermittent nature of their complaints, often leading to inappropriate diagnostic testing. When these symptoms are associated with physical exertion, a metabolic myopathy should be suspected Although inflammatory myopathies may present with similar features, such a pattern should prompt a thorough evaluation for an underlying metabolic myopathy. This review discusses the most common causes of metabolic myopathies and reviews the current diagnostic options available to the clinician.

  5. Clinical Physiology: A Successful Academic and Clinical Discipline is Threatened in Sweden

    ERIC Educational Resources Information Center

    Arheden, Hakan

    2009-01-01

    Clinical physiologists in Sweden are physicians (the majority with a PhD degree) with thorough training in system physiology and pathophysiology. They investigate patients in a functional approach and are engaged in basic and applied physiology teaching and research. In 1954, clinical physiology was founded as an independent academic and clinical…

  6. Clinical Physiology: A Successful Academic and Clinical Discipline is Threatened in Sweden

    ERIC Educational Resources Information Center

    Arheden, Hakan

    2009-01-01

    Clinical physiologists in Sweden are physicians (the majority with a PhD degree) with thorough training in system physiology and pathophysiology. They investigate patients in a functional approach and are engaged in basic and applied physiology teaching and research. In 1954, clinical physiology was founded as an independent academic and clinical…

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

    PubMed

    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.

  8. DIAGNOSTICS ALGORITHM OF DIABETIC POLYNEUROPATHY IN PREDICTION OF CLINICAL COURSE.

    PubMed

    Popova, T E; Tappahov, A A; Shnaider, N A; Petrova, M M; Nikolaeva, T Y; Konnikova, E E; Kozhevnikov, A A; Ammosov, V G; Vinokurova, N E

    2015-01-01

    To estimate the importance of new algorithm introducing of PDP diagnostics in practice of NEFU medical institute Clinic in detection of severity level and predicting of clinical course. 50 people with sensory-motor PDP form among patients with 2 type diabetes were examined on the basis of Clinic of NEFU medical institute. Patients have been divided into 2 groups by disease duration: the first groups were patients with duration of disease till 10 years, the second group--more than 10 years. Diagnostics methods: clinical neurologic, neurophysiological. Patients underwent polymodal sensitivity analysis, computer pallesteziometry, stabilometry, electroneuromyography. The dependence of clinical neurophysiological PDP parametres from severity of the duration of type 2 diabetes has been revealed. Thus, dependence of clinical-neurophysiological parametres of PDP severity from the duration of 2 type diabetes has been revealed. The new algorithm raised efficacy of clinical-neurophysiological PDP diagnostics and helped the predicting of the clinical course.

  9. Cost of carrying out clinical diagnostic tests.

    PubMed Central

    Barnard, D J; Bingle, J P; Garratt, C J

    1978-01-01

    The total cost of performing diagnostic tests in a hospital laboratory during one year was assessed. The largest single item of expenditure was the cost of the salaries of the technical staff, while the cost of reagents (including radiopharmaceuticals) was relatively small. The total costs of carrying out diagnostic tests are much higher than is often recognised by those who request them. The use of relatively expensive, commercially available assay kits saves time and gives good value for money. It may be worth taking this into account when planning hospital budgets. PMID:647338

  10. Clinical concept mapping: Does it improve discipline-based critical thinking of nursing students?

    PubMed Central

    Moattari, Marzieh; Soleimani, Sara; Moghaddam, Neda Jamali; Mehbodi, Farkhondeh

    2014-01-01

    Background: Enhancing nursing students’ critical thinking is a challenge faced by nurse educators. This study aimed at determining the effect of clinical concept mapping on discipline-based critical thinking of nursing students. Materials and Methods: In this quasi-experimental post-test only design, a convenient sample of 4th year nursing students (N = 32) participated. They were randomly divided into two groups. The experimental group participated in a 1-day workshop on clinical concept mapping. They were also assigned to use at least two clinical concepts mapping during their clinical practice. Post-test was done using a specially designed package consisting of vignettes for measurement of 17 dimensions of critical thinking in nursing under two categories of cognitive critical thinking skills and habits of mind. They were required to write about how they would use a designated critical thinking skills or habits of mind to accomplish the nursing actions. The students’ responses were evaluated based on identification of critical thinking, justification, and quality of the student's response. The mean score of both groups was compared by Mann-Whitney test using SPSS version 16.5. Results: The results of the study revealed a significant difference between the two groups’ critical thinking regarding identification, justification, and quality of responses, and overall critical thinking scores, cognitive thinking skills, and habits of mind. The two groups also differed significantly from each other in 11 out of 17 dimensions of critical thinking. Conclusion: Clinical concept mapping is a valuable strategy for improvement of critical thinking of nursing students. However, further studies are recommended to generalize this result to nursing students in their earlier stage of education. PMID:24554963

  11. Clinical concept mapping: Does it improve discipline-based critical thinking of nursing students?

    PubMed

    Moattari, Marzieh; Soleimani, Sara; Moghaddam, Neda Jamali; Mehbodi, Farkhondeh

    2014-01-01

    Enhancing nursing students' critical thinking is a challenge faced by nurse educators. This study aimed at determining the effect of clinical concept mapping on discipline-based critical thinking of nursing students. In this quasi-experimental post-test only design, a convenient sample of 4(th) year nursing students (N = 32) participated. They were randomly divided into two groups. The experimental group participated in a 1-day workshop on clinical concept mapping. They were also assigned to use at least two clinical concepts mapping during their clinical practice. Post-test was done using a specially designed package consisting of vignettes for measurement of 17 dimensions of critical thinking in nursing under two categories of cognitive critical thinking skills and habits of mind. They were required to write about how they would use a designated critical thinking skills or habits of mind to accomplish the nursing actions. The students' responses were evaluated based on identification of critical thinking, justification, and quality of the student's response. The mean score of both groups was compared by Mann-Whitney test using SPSS version 16.5. The results of the study revealed a significant difference between the two groups' critical thinking regarding identification, justification, and quality of responses, and overall critical thinking scores, cognitive thinking skills, and habits of mind. The two groups also differed significantly from each other in 11 out of 17 dimensions of critical thinking. Clinical concept mapping is a valuable strategy for improvement of critical thinking of nursing students. However, further studies are recommended to generalize this result to nursing students in their earlier stage of education.

  12. Diagnostic test systematic reviews: bibliographic search filters ("Clinical Queries") for diagnostic accuracy studies perform well.

    PubMed

    Kastner, Monika; Wilczynski, Nancy L; McKibbon, Ann K; Garg, Amit X; Haynes, R Brian

    2009-09-01

    Systematic reviews of health care topics are valuable summaries of all pertinent studies on focused questions. However, finding all relevant primary studies for systematic reviews remains challenging. To determine the performance of the Clinical Queries sensitive search filter for diagnostic accuracy studies for retrieving studies for systematic reviews. We compared the yield of the sensitive Clinical Queries diagnosis search filter for MEDLINE and EMBASE to retrieve studies in diagnostic accuracy systematic reviews reported in ACP Journal Club in 2006. Twelve of 22 diagnostic accuracy reviews (452 included studies) met the inclusion criteria. After excluding 11 studies not in MEDLINE or EMBASE, 95% of articles (417 of 441) were captured by the sensitive Clinical Queries diagnosis search filter (MEDLINE and EMBASE combined). Of 24 studies not retrieved by the filter, 22 were not diagnostic accuracy studies. Reanalysis of the Clinical Queries filter without these 22 nondiagnosis articles increased its performance to 99% (417 of 419). We found no substantive impact of the two articles missed by the Clinical Queries filter on the conclusions of the systematic reviews in which they were cited. The sensitive Clinical Queries diagnostic search filter captured 99% of articles and 100% of substantive articles indexed in MEDLINE and EMBASE in diagnostic accuracy systematic reviews.

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

    PubMed

    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.

  14. Prime time to resuscitate clinical medicine and kill diagnostic greed?

    PubMed Central

    Rajasoorya, C

    2016-01-01

    Modern healthcare faces the challenges of rising costs, increasing expectations of patients and changing disease patterns. Physicians practise medicine in an era of easy availability and access to a plethora of modern and sometimes expensive diagnostic aids. The powerful utility of clinical skills cannot be underestimated nor lost. The physician has a powerful platform to encourage the rational use of tests, prevent wasteful overutilisation and ensure that tests do not cause more harm than benefit in physical, emotional or financial terms. Diagnostic skills should not be substituted by diagnostic greed. It is possible to do more for the patient rather than to the patient. PMID:27664173

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

    PubMed

    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.

  16. Personhood diagnostics: personal attributes and clinical explanations of pain.

    PubMed

    Buchbinder, Mara

    2011-12-01

    This article examines an explanation circulating within a U.S. multidisciplinary pediatric pain clinic that links the neurobiology of functional pain disorders to desirable personal attributes such as smartness and creativity. Drawing on ethnographic observations and the analysis of video-recorded clinical interactions and focusing on two cases, I introduce the term personhood diagnostics to explore how the explanatory framework worked not only to pinpoint a pathophysiological mechanism for pain to legitimize it as "real" but also to cast patients as virtuous persons. In doing so, it laid the groundwork for an ethic of clinical care that privileged the patient's responsibility for treatment. Within this narrative logic, diagnostic explanations reveal not only causal pathways but also predictive claims about recovery. By considering what is at stake when personal attributes are marshaled within a neurobiological diagnostic register that also lays out the patient's role in healing, this article complicates psychosomatic accounts of pain.

  17. [Desmoplastic ameloblastoma. Clinical and histopathological diagnostic criteria].

    PubMed

    Maresi, E; Tortorici, S; Orlando, E; Burruano, F

    2003-03-01

    A rare case of desmoplastic ameloblastoma observed in a 62-year old man presenting a swelling in the anterior mandible area with abnormal mobility of 33, 34, 43, 45, is described. Diagnosis of desmoplastic ameloblastoma was based on: anterior localization, radiopaque appearance, severe desmoplastic stroma and increasing infiltrate pattern of the tumor. The authors suggest to consider the desmoplastic histotype as a different nosological entity defined "desmoplastic ameloblastoma" since these clinical and histopathological features are missing in the other histologic variants of common ameloblastoma. A radical surgical treatment is suggested for this neoplasia.

  18. Clinical consequences of new diagnostic tools for intestinal parasites.

    PubMed

    van Lieshout, L; Roestenberg, M

    2015-06-01

    Following the success of nucleic acid-based detection in virology and bacteriology, multiplex real-time PCRs are increasingly used as first-line diagnostics in clinical parasitology, replacing microscopy. The detection and quantification of parasite-specific DNA in faeces is highly sensitive and specific and allows for cost-effective high-throughput screening. In this paper we discuss the clinical consequences of this radical change in diagnostic approach, as well as its potential drawbacks. In the Netherlands, routine diagnostic laboratories have been pioneering the implementation of multiplex real-time PCR for the detection of pathogenic intestinal protozoa and this has resulted in increased detection rates of Giardia lamblia and Cryptosporidium spp. As a consequence of this new diagnostic approach, expertise in the field of parasite morphology by conventional light microscopy seems to be disappearing in most of the high-throughput microbiological laboratories. As a result, to maintain a high standard of care, a formalized exchange of critical information between clinicians and laboratory staff is necessary to determine the most appropriate testing either in local laboratories or in reference centres, based on clinical signs and symptoms, exposure and immune status. If such a diagnostic algorithm is lacking, important infections in travellers, immigrants and immunocompromised patients may be missed. Copyright © 2015 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  19. Molecular diagnostics clinical utility strategy: a six-part framework.

    PubMed

    Frueh, Felix W; Quinn, Bruce

    2014-09-01

    The clinical utility of a molecular test rises proportional to a favorable regulatory risk/benefit assessment, and clinical utility is the driver of payer coverage decisions. Although a great deal has been written about clinical utility, debates still center on its 'definition.' We argue that the definition (an impact on clinical outcomes) is self-evident, and improved communications should focus on sequential steps in building and proving an adequate level of confidence for the diagnostic test's clinical value proposition. We propose a six-part framework to facilitate communications between test developers and health technology evaluators, relevant to both regulatory and payer decisions.

  20. International variation in performance by clinical discipline and task on the United States medical licensing examination step 2 clinical knowledge component.

    PubMed

    Holtzman, Kathleen Z; Swanson, David B; Ouyang, Wenli; Dillon, Gerard F; Boulet, John R

    2014-11-01

    To investigate country-to-country variation in performance across clinical science disciplines and tasks for examinees taking the Step 2 Clinical Knowledge (CK) component of the United States Medical Licensing Examination. In 2012 the authors analyzed demographic characteristics, total scores, and percent-correct clinical science discipline and task scores for more than 88,500 examinees taking Step 2 CK for the first time during the 2008-2010 academic years. For each examinee and score, differences between the score and the mean performance of examinees at U.S. MD-granting medical schools were calculated, and mean differences by country of medical school were tabulated for analysis of country-to-country variation in performance by clinical discipline and task. Controlling for overall performance relative to U.S. examinees, results showed that international medical graduates (IMGs) performed best in Surgery and worst in Psychiatry for clinical discipline scores; for clinical tasks, IMGs performed best in Understanding Mechanisms of Disease and worst in Promoting Preventive Medicine and Health Maintenance. The pattern of results was strongest for IMGs attending schools in the Middle East and Australasia, present to a lesser degree for IMGs attending schools in Europe, and absent for IMGs attending Caribbean medical schools. Country-to-country differences in relative performance were present for both clinical discipline and task scores. Possible explanations include differences in learning outcomes, curriculum emphasis and clinical experience, standards of care, and culture, as well as the effects of English as a second language and relative emphasis on preparing students to take the Step 2 CK exam.

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

    PubMed

    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.

  2. Hashimoto thyroiditis: clinical and diagnostic criteria.

    PubMed

    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. Copyright © 2014 Elsevier B.V. All rights reserved.

  3. Renovascular hypertension. Clinical and diagnostic clues.

    PubMed

    Morganti, A; Marana, I; Airoldi, F; Alberti, C; Nador, B; Palatresi, S

    1999-01-01

    Renovascular hypertension (RVH), although relatively rare, is the most frequent among the secondary forms of arterial hypertension; in addition interventional radiology has remarkably increased, because of its relative invasiveness, the possibilities of treating and in many cases curing RVH bypassing the traditional surgical approach. For these reasons in recent years a number of screening tests has been developed and added to renal angiography and to the measurement of plasma renin which, still now, represent the reference methods among the morphological and the functional tests respectively. These new and promising techniques include the magnetic resonance angiography, the spiral computed tomography, the renal scintigraphy and the ultrasound scanning of renal arteries with the associated measurement of velocimetric indices. In selected populations all these methods have been shown to possess an high specificity and sensitivity but if applied to a general population of hypertensive patients their positive predictive values are going to be necessarily low because of the low prevalence of the disease. Accordingly, it is mandatory for the physician, before sending patients to these investigations, to preselect those who, on the basis of a thorough clinical examination are more likely to harbour a renal artery stenosis.

  4. [Auditory Neuropathy: Clinical Evaluation and Diagnostic Approach].

    PubMed

    Carvalho, Guilherme Machado; Leão, Beatriz Prista; Ramos, Priscila Zonzini; Guimarães, Alexandre Caixeta; Castilho, Arthur Menino; Sartorato, Edi Lúcia

    2016-06-01

    Auditory neuropathy is a condition in which there is a change in the neuronal transmission of the auditory stimuli. Our objective was to describe the patients' series within the clinical spectrum of auditory neuropathy. We designed a transversal, retrospective study, with a description of a consecutive case series. Auditory neuropathy was defined by the presence of acoustic otoemissions plus absent/abnormal auditory brainstem responses with cochlear microphonism. 34 patients with bilateral hearing loss, 23 males and 11 females, were included in the study. Eighty percent of the cases had congenital onset of hearing loss. Acoustic otoemissions were absent in 67% of them. Cochlear microfonism was present in 79% of all cases. Prenatal, perinatal or ambiental factors were present in 35.2% of the cases. Medical literature shows great variability in findings related to auditory neuropathy, both in its etiology and epidemiological data. Auditory neuropathy presents a broad spectrum of changes that may result from mild to severe changes in the functioning of the auditory pathway, and in our sample we observed that 80% of Auditory neuropathy have congenital onset of hearing loss and/or with cochlear microphonism identified. 91% of patients experience significant hearing impairment and 53% suffer from severe or profound deafness.

  5. Diagnostic Test Systematic Reviews: Bibliographic search filters ("Clinical Queries") for diagnostic accuracy studies perform well

    PubMed Central

    Kastner, M; Wilczynski, NL; McKibbon, KA; Garg, AX; Haynes, RB

    2009-01-01

    Background Systematic reviews of health care topics are valuable summaries of all pertinent studies on focused questions. However, finding all relevant primary studies for systematic reviews remains challenging. Objectives To determine the performance of the Clinical Queries (CQ) sensitive search filter for diagnostic accuracy studies for retrieving studies for systematic reviews. Methods We compared the yield of the sensitive CQ diagnosis search filter for MEDLINE and EMBASE to retrieve studies in diagnostic accuracy systematic reviews (ACP Journal Club, 2006). Results 12 of 22 diagnostic accuracy reviews (452 included studies) met inclusion criteria. After excluding 11 studies not in MEDLINE or EMBASE, 95% of articles (417/441) were captured by the sensitive CQ diagnosis search filter (MEDLINE and EMBASE combined). Of 24 studies not retrieved by the filter, 22 were not diagnostic accuracy studies. Re-analysis of the CQ filter without these 22 non-diagnosis articles increased its performance to 99% (417/419). We found no substantive impact of the 2 articles missed by the CQ filter on the conclusions of the systematic reviews in which they were cited. Conclusion The sensitive CQ diagnostic search filter captured 99% of articles and 100% of substantive articles indexed in MEDLINE and EMBASE in diagnostic accuracy systematic reviews. PMID:19230607

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

    PubMed

    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.

  7. Evidence-Based Diagnosis: Incorporating Diagnostic Instruments into Clinical Practice

    ERIC Educational Resources Information Center

    Doss, Amanda Jensen

    2005-01-01

    This article is intended to serve as a practical guide for practitioners interested in incorporating evidence-based diagnosis (EBD) instruments into their clinical practices to refine the diagnostic process. Three measures are used to illustrate this process, the DISC-IV (Shaffer et al., 2000), the Schedule for Affective Disorders and…

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

    ERIC Educational Resources Information Center

    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)

  9. The ritual abuse of children: clinical features and diagnostic reasoning.

    PubMed

    Nurcombe, B; Unützer, J

    1991-03-01

    A case of alleged ritual sexual abuse is presented. Clinical recognition and diagnostic reasoning are discussed. After a brief account of modern satanism, it is concluded that, although the evidence for the occurrence of ritual abuse is sketchy, a high index of suspicion is appropriate.

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

    PubMed Central

    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

  11. Harsh discipline, childhood sexual assault, and MAOA genotype: An investigation of main and interactive effects on diverse clinical externalizing outcomes

    PubMed Central

    Derringer, Jaime; Krueger, Robert F.; Irons, Daniel E.; Iacono, William G.

    2010-01-01

    We studied the impact of MAOA genotype, childhood sexual assault, and harsh discipline on clinical externalizing symptoms (substance problems, adult antisocial behavior, and conduct disorder). Participants were 841 individual twins from the Minnesota Twin Family Study assessed through age 25. MAOA genotype was not associated with differences in any phenotype, nor was there a significant interaction between MAOA and harsh discipline for any phenotype or a significant interaction between MAOA and childhood sexual assault for substance problems. We found evidence that childhood sexual assault interacted with MAOA genotype to predict antisocial behavior and conduct disorder symptoms. Individuals with the low MAOA activity genotype who reported childhood sexual assault had more symptoms than individuals with either the high MAOA activity genotype and/or no history of childhood sexual assault. These findings suggest that the previously reported interaction between MAOA and childhood maltreatment may be specific to the antisocial subset of externalizing disorders. PMID:20364435

  12. Harsh discipline, childhood sexual assault, and MAOA genotype: an investigation of main and interactive effects on diverse clinical externalizing outcomes.

    PubMed

    Derringer, Jaime; Krueger, Robert F; Irons, Daniel E; Iacono, William G

    2010-09-01

    We studied the impact of MAOA genotype, childhood sexual assault, and harsh discipline on clinical externalizing symptoms (substance problems, adult antisocial behavior, and conduct disorder). Participants were 841 individual twins from the Minnesota Twin Family Study assessed through age 25. MAOA genotype was not associated with differences in any phenotype, nor was there a significant interaction between MAOA and harsh discipline for any phenotype or a significant interaction between MAOA and childhood sexual assault for substance problems. We found evidence that childhood sexual assault interacted with MAOA genotype to predict antisocial behavior and conduct disorder symptoms. Individuals with the low MAOA activity genotype who reported childhood sexual assault had more symptoms than individuals with either the high MAOA activity genotype and/or no history of childhood sexual assault. These findings suggest that the previously reported interaction between MAOA and childhood maltreatment may be specific to the antisocial subset of externalizing disorders.

  13. Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria.

    PubMed

    Nardocci, N; Zorzi, G; Farina, L; Binelli, S; Scaioli, W; Ciano, C; Verga, L; Angelini, L; Savoiardo, M; Bugiani, O

    1999-04-22

    To present clinical, neurophysiologic, and neuroradiologic findings in 13 patients with infantile neuroaxonal dystrophy (INAD), focusing on aspects that assist early diagnosis. Clinicopathologic diagnostic criteria for INAD were delineated by Aicardi and Castelein in 1979, but atypical cases are reported frequently and little is known of the diagnostic utility of MRI. The authors reviewed the clinical, neurophysiologic, and MRI findings of 13 patients who met the diagnostic criteria for INAD. Symptoms onset was between 6 months and 2 years of age. In nine patients the clinical course was typical, with rapid motor and mental deterioration; in four patients progression was slower and the clinical picture was different. Electromyographic (EMG) signs of chronic denervation, fast rhythms on EEG and abnormal visual evoked potentials were observed in all patients during the disease course. Cerebellar atrophy with signal hyperintensity in the cerebellar cortex on T2-weighted images were the most characteristic MRI findings; hypointensity in the pallida and substantia nigra was also observed in two patients. alpha-N-acetyl-galactosaminidase activity on leukocytes was normal in the 10 patients tested. EMG and MRI abnormalities are the earliest and most suggestive signs of INAD, which has a clinical and radiologic spectrum that is broader than reported previously.

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

    PubMed

    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.

  15. Diagnostic yield of a one-stop neck lump clinic.

    PubMed

    Al Hamarneh, Osama; Liew, Lenny; Shortridge, Richard J

    2013-05-01

    Diagnostic clinics for patients with neck lumps were established across the UK in response to NICE guidance on cancer services. The guidance stated that a surgeon and a cytopathologist among its other key recommendations should staff each clinic. The aim of this study was to establish the diagnostic yield of this clinic at Wolverhampton. A prospective cohort study was conducted of patients attending a one-stop neck lump clinic over a period of 30 months. Patients' characteristics, diagnostic tests and outcomes were recorded and the data analysed. Of 333 patients, n = 65 (20 %) had no lump, n = 214 (64 %) had a benign lump and n = 54 (16 %) had a malignant lump. Older age of patients and a history of smoking were found to be significantly higher when a malignant lump was diagnosed when compared with a benign lump. In the benign lump group, freehand FNAC had an accuracy of 87 % (n = 48/55), while USS-guided FNAC had an accuracy of 74 % (n = 32/43). Diagnosis was confirmed on the same day for the majority of patients (n = 178, 84 %). In the malignant lump group, freehand FNAC had an accuracy of 82 % (n = 28/34), while USS-guided FNAC had an accuracy of 81 % (n = 17/21). Diagnosis on the same day was confirmed for 74 % of the patients (n = 40). The clinic in our unit achieved an overall diagnostic yield of 84 %. Outcomes regarding age, sex, smoking, size and site of neck lumps and accuracy of FNAC were in line with published data. The study showed that this one-stop neck lump clinic was better at excluding malignancy than diagnosing it.

  16. [Erythrocyte alloimmunization in pregnant women, clinical importance and laboratory diagnostics].

    PubMed

    Holusková, I; Lubušký, M; Studničková, M; Procházka, M

    2013-01-01

    The aim of this review is to give comprehensive summary of erythrocyte alloimunization of pregnant women, laboratory dignostics and clinical importance. Review. University Hospital Olomouc, Transfusion Department, Department of Obstetrics and Gynecology. Based on literature analysis using database search engines PubMed, Google Scholar, Ovid in field of erythrocyte antibodies, laboratory diagnostics and clinical importance up-to-date knowledge. Erythrocyte alloimunization anti-D antibodies decreases in connection with the introduction of immunoprofylaxis. Immunization of non RhD antibodies with impossibility using of immunoprofylaxis remains still clinical problem.

  17. Revisioning Discipline.

    ERIC Educational Resources Information Center

    Domenico, Orin

    1998-01-01

    A high school teacher recalls his own alienation from school as a high school student and relates it to the current overriding emphasis on school discipline. School discipline problems are a natural result of coercive educational practices, which have resisted repeated reform efforts. In an alternative educational model, (self-)discipline would…

  18. Fear of knowledge: Clinical hypotheses in diagnostic and prognostic reasoning.

    PubMed

    Chiffi, Daniele; Zanotti, Renzo

    2017-10-01

    Patients are interested in receiving accurate diagnostic and prognostic information. Models and reasoning about diagnoses have been extensively investigated from a foundational perspective; however, for all its importance, prognosis has yet to receive a comparable degree of philosophical and methodological attention, and this may be due to the difficulties inherent in accurate prognostics. In the light of these considerations, we discuss a considerable body of critical thinking on the topic of prognostication and its strict relations with diagnostic reasoning, pointing out the distinction between nosographic and pathophysiological types of diagnosis and prognosis, underlying the importance of the explication and explanation processes. We then distinguish between various forms of hypothetical reasoning applied to reach diagnostic and prognostic judgments, comparing them with specific forms of abductive reasoning. The main thesis is that creative abduction regarding clinical hypotheses in diagnostic process is very unlikely to occur, whereas this seems to be often the case for prognostic judgments. The reasons behind this distinction are due to the different types of uncertainty involved in diagnostic and prognostic judgments. © 2016 John Wiley & Sons, Ltd.

  19. Diagnostic communication in the memory clinic: a conversation analytic perspective

    PubMed Central

    Peel, Elizabeth

    2015-01-01

    Objectives: Whether and how patients should be told their dementia diagnosis, has been an area of much debate. While there is now recognition that early diagnosis is important for dementia care little research has looked at how dementia-related diagnostic information is actually verbally communicated. The limited previous research suggests that the absence of explicit terminology (e.g., use of the term Alzheimer's) is problematic. This paper interrogates this assumption through a conversation analysis of British naturalistic memory clinic interaction. Method: This paper is based on video-recordings of communication within a UK memory clinic. Appointments with 29 patients and accompanying persons were recorded, and the corpus was repeatedly listened to, in conjunction with the transcripts in order to identify the segments of talk where there was an action hearable as diagnostic delivery, that is where the clinician is evaluating the patient's condition. Results: Using a conversation analytic approach this analysis suggests that diagnostic communication, which is sensitive and responsive to the patient and their carers, is not predicated on the presence or absence of particular lexical choices. There is inherent complexity regarding dementia diagnosis, especially in the ‘early stages’, which is produced through and reflected in diagnostic talk in clinical encounters. Conclusion: In the context of continuity of dementia care, diagnostic information is communicated in a way that conforms to intersubjective norms of minimizing catastrophic reactions in medical communication, and is sensitive to problems associated with ‘insight’ in terms of delivery and receipt or non-receipt of diagnosis. PMID:25647148

  20. Microfluidic immunoassays as rapid saliva-based clinical diagnostics

    PubMed Central

    Herr, Amy E.; Hatch, Anson V.; Throckmorton, Daniel J.; Tran, Huu M.; Brennan, James S.; Giannobile, William V.; Singh, Anup K.

    2007-01-01

    At present, point-of-care (POC) diagnostics typically provide a binary indication of health status (e.g., home pregnancy test strip). Before anticipatory use of diagnostics for assessment of complex diseases becomes widespread, development of sophisticated bioassays capable of quantitatively measuring disease biomarkers is necessary. Successful translation of new bioassays into clinical settings demands the ability to monitor both the onset and progression of disease. Here we report on a clinical POC diagnostic that enables rapid quantitation of an oral disease biomarker in human saliva by using a monolithic disposable cartridge designed to operate in a compact analytical instrument. Our microfluidic method facilitates hands-free saliva analysis by integrating sample pretreatment (filtering, enrichment, mixing) with electrophoretic immunoassays to quickly measure analyte concentrations in minimally pretreated saliva samples. Using 20 μl of saliva, we demonstrate rapid (<10 min) measurement of the collagen-cleaving enzyme matrix metalloproteinase-8 (MMP-8) in saliva from healthy and periodontally diseased subjects. In addition to physiologically measurable indicators of periodontal disease, conventional measurements of salivary MMP-8 were used to validate the microfluidic assays described in this proof-of-principle study. The microchip-based POC diagnostic demonstrated is applicable to rapid, reliable measurement of proteinaceous disease biomarkers in biological fluids. PMID:17374724

  1. Microfluidic immunoassays as rapid saliva-based clinical diagnostics.

    PubMed

    Herr, Amy E; Hatch, Anson V; Throckmorton, Daniel J; Tran, Huu M; Brennan, James S; Giannobile, William V; Singh, Anup K

    2007-03-27

    At present, point-of-care (POC) diagnostics typically provide a binary indication of health status (e.g., home pregnancy test strip). Before anticipatory use of diagnostics for assessment of complex diseases becomes widespread, development of sophisticated bioassays capable of quantitatively measuring disease biomarkers is necessary. Successful translation of new bioassays into clinical settings demands the ability to monitor both the onset and progression of disease. Here we report on a clinical POC diagnostic that enables rapid quantitation of an oral disease biomarker in human saliva by using a monolithic disposable cartridge designed to operate in a compact analytical instrument. Our microfluidic method facilitates hands-free saliva analysis by integrating sample pretreatment (filtering, enrichment, mixing) with electrophoretic immunoassays to quickly measure analyte concentrations in minimally pretreated saliva samples. Using 20 microl of saliva, we demonstrate rapid (<10 min) measurement of the collagen-cleaving enzyme matrix metalloproteinase-8 (MMP-8) in saliva from healthy and periodontally diseased subjects. In addition to physiologically measurable indicators of periodontal disease, conventional measurements of salivary MMP-8 were used to validate the microfluidic assays described in this proof-of-principle study. The microchip-based POC diagnostic demonstrated is applicable to rapid, reliable measurement of proteinaceous disease biomarkers in biological fluids.

  2. Clinical diagnostic criteria and classification controversies in frontotemporal lobar degeneration

    PubMed Central

    RASCOVSKY, KATYA; GROSSMAN, MURRAY

    2014-01-01

    Frontotemporal lobar degeneration (FTLD) can manifest as a spectrum of clinical syndromes, ranging from behavioural impairment to language or motor dysfunction. Recently, revised diagnostic criteria have been proposed for the behavioural and progressive aphasia syndromes associated with frontotemporal degeneration. The present review will summarize these diagnostic guidelines and highlight some lingering controversies in the classification of FTLD clinical syndromes. We will discuss common tools and methods used to identify the insidious changes of behavioural variant frontotemporal dementia (bvFTD), the value of new, patient-based tasks of orbitofrontal function, and the issue of a benign or ‘phenocopy’ variant of bvFTD. With regard to primary progressive aphasia (PPA), we will discuss the scope of the semantic disorder in semantic-variant PPA, the nature of the speech disorder in non-fluent, agrammatic PPA, and the preliminary utility of a logopenic PPA classification. PMID:23611345

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

    PubMed

    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.

  4. [Clinical diagnostics of ADHD in preschool-aged children].

    PubMed

    Merkt, Julia; Petermann, Franz

    2015-03-01

    Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent psychiatric disorders in childhood and adolescence and has many negative consequences for both the child and the family. Early identification of children with ADHD would be helpful for the prevention of long-term consequences. This review appraises questionnaires and clinical interviews that can be used for the diagnosis of ADHD in preschool-aged children (3-5 years). We compare and discuss both German and international methods. The role of questionnaires and clinical interviews in the diagnostic process of ADHD is discussed.

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

    PubMed Central

    Malon, Radha S. P.; 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. PMID:25276835

  6. Paracoccidioidomycosis: epidemiological, clinical, diagnostic and treatment up-dating*

    PubMed Central

    Marques, Silvio Alencar

    2013-01-01

    Paracoccidioidomycosis is an acute - to chronic systemic mycosis caused by fungi of the genus Paracoccidioides. Due to its frequent tegument clinical expression, paracoccidioidomycosis is an important disease for dermatologists, who must be up-to-date about it. This article focuses on recent epidemiological data and discusses the new insights coming from molecular studies, as well as those related to clinical, diagnostic and therapeutic aspects. In the latter section, we give particular attention to the guideline on paracoccidioidomycosis organized by specialists in this subject. PMID:24173174

  7. MDS clinical diagnostic criteria for Parkinson's disease in China.

    PubMed

    Li, Jun; Jin, Miao; Wang, Li; Qin, Bin; Wang, Kang

    2017-03-01

    The Movement Disorder Society Clinical Diagnostic Criteria for Parkinson's disease (MDS-PD Criteria) was introduced by the Movement Disorder Society in 2015 for research purposes. However, its use for clinical diagnosis of Parkinson disease still needs further revision. This study compares the UK-Criteria versus MDS-PD Criteria in the clinical diagnosis of Parkinson disease referred to the China-Japan Friendship Hospital of Beijing, China. To compare the MDS-PD Criteria with the UK-Criteria and discuss the feasibility of the clinical application of MDS-PD Criteria as a general guide to clinical diagnosis of PD in Chinese PD patients. 150 patients of neurology clinic of China-Japan Friendship Hospital of Beijing were recruited in our research. They were divided into three groups: UK-Criteria group, MDS-PD Criteria group and a combined group of UK and MDS-PD Criteria. Clinical history was collected while physical and auxiliary examinations were done by a trained neurologist according to the corresponding criteria. An interrater reliability analysis using the Kappa statistic claimed substantial agreement (κ = 0.626) between the MDS-PD Criteria and the UK-Criteria. The differences between the diagnostic results of these two criteria were statistically significant by paired Chi-square test (p = 0.000). It was found that levodopa-induced dyskinesia had a good positive predictive value, while early bulbar impairment and inspiratory dysfunction presented a negative predictive value. The MDS-PD Criteria emphasize the importance of non-motor symptoms, keeping the motor symptoms as the core for the clinical diagnosis of PD, and establish categories of diagnosis features and levels of certainty which are more complete and organized to be used and replicated by non specialized physicians to evaluated patients with Parkinsonism. The higher sensitivity of MDS-PD Criteria compared with UK-Criteria is worth being widely used in clinical work.

  8. Assessment of clinical information: Comparison of the validity of a Structured Clinical Interview (the SCID) and the Clinical Diagnostic Interview.

    PubMed

    Drill, Rebecca; Nakash, Ora; DeFife, Jared A; Westen, Drew

    2015-06-01

    Adaptive functioning is a key aspect of psychiatric diagnosis and assessment in research and practice. This study compared adaptive functioning validity ratings from Structured Clinical Interviews (SCIDs, symptom-focused structured diagnostic interviews), and Clinical Diagnostic Interviews (CDIs, systematic diagnostic interviews modeling naturalistic clinical interactions focusing on relational narratives). Two hundred forty-five patients (interviewed by two independent interviewers) and their interviewers completed the Clinical Data Form which assesses adaptive functioning and clinical information. Both interviews converged strongly with patient-reports, with no significant differences in validity of the interviews in measuring global and specific domains of adaptive functioning variables. Findings suggest that CDIs provide adaptive functioning data comparable to SCIDs (often considered "gold standard" for assessment but difficult to use in practice) and have important implications for bridging the research-practice gap. By incorporating clinicians' everyday methods, CDIs yield information that is psychometrically sound for empirical investigation, diagnostically practical, and clinically meaningful and valid.

  9. New portable noninvasive spectrophotometric apparatus for clinical diagnostic applications

    NASA Astrophysics Data System (ADS)

    Fedukova, M. V.; Dmitriev, M. A.; Mustafaeva, D. M.; Kolbas, Yu. Y.; Rogatkin, Dmitrii A.; Bychenkov, Oleg A.; Polyakov, Pavel Y.

    2004-08-01

    Today the noninvasive (in vitro, in situ) and real-time methods of diagnostics are desirable for general clinical practice. One of such promising technique is the optical multi-wave diffusion and absorption spectrophotometry. It allows a doctor to measure a number of important medical and biological (M&B) parameters such as the blood microcirculation parameters into the soft tissues, contents of the hemoglobin fractions into the periphery blood, etc. The use of the new components of the microelectronics and optics and development of new approaches to the diagnostic data processing makes it possible to design a number of small and effective devices for this purpose. The basic principle of work of them in means of hardware function is the multi-wave light scanning of the tested tissue"s area and detecting a backscattered light. In means of software function the basic principle of work of them is the inverse optical task solution when the optical and corresponding M&B parameters of the tested medium are calculated from the measured backscattered spectral optical data. This report presents one of such designed portable apparatus "Spectrotest" developed in cooperation with Moscow Regional Research and Clinical Institute of "MONIKI". This device allows a doctor to register the index of melanin pigmentation of the skin, the volume of the blood in the tested tissue and the average hemoglobin saturation of the peripheral blood. All this parameters are available for a doctor to see them on the monitor screen in real-time mode directly during any diagnostic or treatment procedure. For that a new modified light scattering theory with the analytical solution of the main equations has been developed. Analytical solution allows the software to calculate and indicate the measured M&B parameters on the computer"s monitor screen during less than one second. Today the developed diagnostic system "Spectrotest" is used in real clinical practice in "MONIKI" and in the Oncology Center of

  10. Clinical Validation of Quantum Dot Barcode Diagnostic Technology.

    PubMed

    Kim, Jisung; Biondi, Mia J; Feld, Jordan J; Chan, Warren C W

    2016-04-26

    There has been a major focus on the clinical translation of emerging technologies for diagnosing patients with infectious diseases, cancer, heart disease, and diabetes. However, most developments still remain at the academic stage where researchers use spiked target molecules to demonstrate the utility of a technology and assess the analytical performance. This approach does not account for the biological complexities and variabilities of human patient samples. As a technology matures and potentially becomes clinically viable, one important intermediate step in the translation process is to conduct a full clinical validation of the technology using a large number of patient samples. Here, we present a full detailed clinical validation of Quantum Dot (QD) barcode technology for diagnosing patients infected with Hepatitis B Virus (HBV). We further demonstrate that the detection of multiple regions of the viral genome using multiplexed QD barcodes improved clinical sensitivity from 54.9-66.7% to 80.4-90.5%, and describe how to use QD barcodes for optimal clinical diagnosis of patients. The use of QDs in biology and medicine was first introduced in 1998 but has not reached clinical care. This study describes our long-term systematic development strategy to advance QD technology to a clinically feasible product for diagnosing patients. Our "blueprint" for translating the QD barcode research concept could be adapted for other nanotechnologies, to efficiently advance diagnostic techniques discovered in the academic laboratory to patient care.

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

    PubMed

    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.

  12. Adipose Tissue Dysfunction: Clinical Relevance and Diagnostic Possibilities.

    PubMed

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

    2016-04-01

    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 of adipose tissue is an important determinant of adipose tissue dysfunction, it can be diagnosed in both obese and lean individuals. This implies that not only quantity of adipose tissue should be used as a measure for adipose tissue dysfunction. Instead, focus should be on measuring quality of adipose tissue, which can be done with diagnostic modalities ranging from anthropometric measurements to tissue biopsies and advanced imaging techniques. In daily clinical practice, high quantity of visceral adipose tissue (reflected in high waist circumference or adipose tissue imaging), insulin resistance, or presence of the metabolic syndrome are easy and low-cost diagnostic modalities to evaluate presence or absence of adipose tissue dysfunction.

  13. A clinical and diagnostic approach to the patient with seizures.

    PubMed

    Moore, Sarah A

    2013-05-01

    Seizures are one of the most common neurologic problems encountered by the small animal practitioner. Successful management of the patient with seizure is facilitated by an appropriate diagnostic workup to identify underlying causes when they exist. Veterinary patients with seizures can be divided in to 3 main categories based on underlying cause: those with primary epilepsy, those with structural epilepsy, and those with reactive seizures. Additionally, some patients may be given a label of unknown epilepsy when they do not meet the criteria for a diagnosis of primary epilepsy, but no structural or reactive cause of seizures can be identified. This article reviews the key clinical findings associated with each of the 3 main categories of seizures and suggests a standardized approach to the diagnostic workup for patients with seizure based on their signalment and neurologic examination findings.

  14. Professional Identity Formation and the Clinician-Scientist: A Paradigm for a Clinical Career Combining Two Distinct Disciplines.

    PubMed

    Rosenblum, Norman D; Kluijtmans, Manon; Ten Cate, Olle

    2016-05-31

    The clinician-scientist role is critical to the future of health care, and in 2010, the Carnegie Report on Educating Physicians focused attention on the professional identity of practicing clinicians. Although limited in number, published studies on the topic suggest that professional identity is likely a critical factor that determines career sustainability. In contrast to clinicians with a singular focus on clinical practice, clinician-scientists combine two major disciplines, clinical medicine and scientific research, to bridge discovery and clinical care. Despite its importance to advancing medical practice, the clinician-scientist career faced a variety of threats, which have been identified recently by the 2014 National Institutes of Health Physician Scientist Workforce. Yet, professional identity development in this career pathway is poorly understood. This Perspective focuses on the challenges to the clinician-scientist's professional identity and its development. First, the authors identify the particular challenges that arise from the different cultures of clinical care and science and the implications for clinician-scientist professional identity formation. Next, the authors synthesize insights about professional identity development within a dual-discipline career and apply their analysis to a discussion about the implications for clinician-scientist identity formation. Although not purposely developed to address identity formation, the authors highlight those elements within clinician-scientist training and career development programs that may implicitly support identity development. Finally, the authors highlight a need to identify empirically the elements that compose and determine clinician-scientist professional identity and the processes that shape its formation and sustainability.

  15. Diagnostic value of ultrasonography for clinical medial epicondylitis.

    PubMed

    Park, Gi-Young; Lee, Sung-Moon; Lee, Michael Y

    2008-04-01

    To assess the ultrasonographic findings and to evaluate the value of ultrasonography as a diagnostic method for detecting clinical medial epicondylitis. A prospective, single-blind study. An outpatient rehabilitation clinic in a tertiary university hospital. Twenty-one elbows from 18 patients with clinical medial epicondylitis and 25 elbows without medial epicondylitis were evaluated. Not applicable. The clinical diagnosis of medial epicondylitis was based on the patient's symptoms and clinical signs in a physical examination performed by a physiatrist. An experienced radiologist made the real-time ultrasonographic diagnosis based on the detection of at least one of the following abnormal findings: a focal hypoechoic or anechoic area, tendon nonvisualization, intratendinous calcifications, and cortical irregularity. Ultrasonography revealed positive findings in 20 of 21 elbows with medial epicondylitis and was negative in 23 of 25 without medial epicondylitis. Ultrasonography showed sensitivity, specificity, accuracy, positive predictive value, and negative predictive value for clinical medial epicondylitis of 95.2%, 92%, 93.5%, 90.9%, and 95.8%, respectively. Tendinosis was observed in 15 elbows, and a partial-thickness tear, including 1 intrasubstance tear, was detected in 5 elbows. The most common ultrasonographic abnormality was a focal echogenic abnormality (15 hypoechoic, 5 anechoic) of the tendons. Our results indicate that ultrasonography is informative and accurate for the detection of clinical medial epicondylitis. Therefore, ultrasonography should be considered as an initial imaging method for evaluating medial epicondylitis.

  16. New clinical diagnostic criteria for eosinophilic chronic rhinosinusitis.

    PubMed

    Sakuma, Yasunori; Ishitoya, Junichi; Komatsu, Masanori; Shiono, Osamu; Hirama, Mariko; Yamashita, Yukiko; Kaneko, Tetsuji; Morita, Satoshi; Tsukuda, Mamoru

    2011-10-01

    Chronic rhinosinusitis is a heterogeneous disease. Most cases of chronic rhinosinusitis with nasal polyp(s) (CRSwNP) in Western countries show a strong tendency for recurrence after surgery and pronounced eosinophil infiltration in the nasal polyps. The prevalence of CRSwNP with pronounced eosinophilic inflammation is steadily increasing and is classified as eosinophilic chronic rhinosinusitis (ECRS) in Japan. However, less than 50% of CRSwNP patients in Japan and East Asia show such features. Since the treatment strategy of ECRS differs from that of non-ECRS, clinical diagnostic criteria that distinguish ECRS from non-ECRS are needed. A total of 124 patients with CRSwNP patients who underwent endonasal sinus surgery were classified as ECRS or non-ECRS according to their clinical characteristics and the clinical features of the two groups were compared. Computed tomography (CT) images of the sinuses were graded according to the Lund-Mackay system. We also graded CT images of the olfactory cleft. Blood examination findings, sinus CT images and asthma complications were analyzed by multivariate logistic regression. Clinical findings that were significantly different between ECRS and non-ECRS were analyzed by receiver operating characteristic curves to determine optimal predictors of ECRS. Blood eosinophilia, asthma complications and CT image scores were significantly different between ECRS and non-ECRS. In particular, increased blood eosinophil percentage and CT image scores for the posterior ethmoid and the olfactory cleft showed good accuracy as predictors of ECRS. A combination of the cut-off values for three predictors (increased blood eosinophil percentage above the normal range, olfactory cleft score ≥1 and posterior ethmoid score ≥1) indicated high accurate diagnostic ability (sensitivity, 84.6%; specificity, 92.3%). A set of three clinical findings can differentiate ECRS from non-ECRS with high accuracy, even when these findings are assessed in regular

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

    PubMed

    Peterson, Andrew; Cruse, Damian; Naci, Lorina; Weijer, Charles; Owen, Adrian M

    2015-01-01

    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.

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

    PubMed Central

    Peterson, Andrew; Cruse, Damian; Naci, Lorina; Weijer, Charles; Owen, Adrian M.

    2015-01-01

    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. PMID:25844313

  19. Discipline Study.

    ERIC Educational Resources Information Center

    Finnegan, Harry

    A questionnaire was used to help define student discipline, categorize and rank the concerns of different groups regarding student discipline, and provide examples of issues. The questionnaire asked citizens, parents, students, teachers, counselors, and principals to list the most important, second most important, and third most important problems…

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

    PubMed

    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.

  1. Reenvisioning Clinical Science: Unifying the Discipline to Improve the Public Health

    PubMed Central

    Onken, Lisa S.; Carroll, Kathleen M.; Shoham, Varda; Cuthbert, Bruce N.; Riddle, Melissa

    2015-01-01

    We present a vision of clinical science, based on a conceptual framework of intervention development endorsed by the Delaware Project. This framework is grounded in an updated stage model that incorporates basic science questions of mechanisms into every stage of clinical science research. The vision presented is intended to unify various aspects of clinical science toward the common goal of developing maximally potent and implementable interventions, while unveiling new avenues of science in which basic and applied goals are of equally high importance. Training in this integrated, translational model may help students learn how to conduct research in every domain of clinical science and at each stage of intervention development. This vision aims to propel the field to fulfill the public health goal of producing implementable and effective treatment and prevention interventions. PMID:25821658

  2. Diagnostic and clinical considerations in prolonged grief disorder

    PubMed Central

    Maercker, Andreas; Lalor, John

    2012-01-01

    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. PMID:22754289

  3. Laser-scan cytometry: a new tool for clinical diagnostics

    NASA Astrophysics Data System (ADS)

    Maerz, Holger K.; Baumgartner, Adolf; Hambsch, Joerg; Hennig, Bert; Nuesse, Michael; Schmid, Thomas; Schneider, Peter; Zotz, Rainer; Tarnok, Attila

    1999-04-01

    The common usage of flow cytometry (FCM) in research and clinical diagnostic is limited by the lack visualizing the fluorescence labelled cells. The Laser Scanning Cytometer (LSC) enables multicolor cytometric measurements on a slide featuring relocation of single cells for further investigation via brightfield and fluorescence microscopy. Additionally, it is possible to capture these images for documentation. In a FISH application, the LSC was successfully used for automated scoring techniqeus for evaluating the frequency of aneuploid sperm in humans and mice. In just 30 minutes, we were able to acquire more than 15,000 sperms, a task which normally takes more than a day. After relocation, genetic defects were identified and confirmed via fluorescence microscopy. In an on going study, we investigate via the LSC the remain of a new radiopaque material for high resolution echocardiography in the blood circulation. At first the result exhibited that the radiopaque material is endocysed by leukocytes just after application but is still detectable via echocardiography for up to 40 minutes. In conclusion, with the additional data acquisition by the LSC, it is possible to perform further detailed information from very small samples. Therefore, we are working up to now on developing new methods to introduce the LSC in our clinical diagnostic of neonates undergoing cardiac surgery.

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

    PubMed

    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.

  5. Disciplined Decision Making in an Interdisciplinary Environment: Some Implications for Clinical Applications of Statistical Process Control.

    ERIC Educational Resources Information Center

    Hantula, Donald A.

    1995-01-01

    Clinical applications of statistical process control (SPC) in human service organizations are considered. SPC is seen as providing a standard set of criteria that serves as a common interface for data-based decision making, which may bring decision making under the control of established contingencies rather than the immediate contingencies of…

  6. Clinical Laboratory Sciences Discipline Advisory Group Final Report. Kentucky Allied Health Project.

    ERIC Educational Resources Information Center

    Kentucky Council on Public Higher Education, Frankfort.

    Education in the clinical laboratory sciences in Kentucky and articulation within the field are examined, based on the Kentucky Allied Health Project (KAHP), which designed an articulated statewide system to promote entry and exit of personnel at a variety of educational levels. The KAHP model promotes articulation in learning, planning, and…

  7. Clinical Laboratory Sciences Discipline Advisory Group Final Report. Kentucky Allied Health Project.

    ERIC Educational Resources Information Center

    Kentucky Council on Public Higher Education, Frankfort.

    Education in the clinical laboratory sciences in Kentucky and articulation within the field are examined, based on the Kentucky Allied Health Project (KAHP), which designed an articulated statewide system to promote entry and exit of personnel at a variety of educational levels. The KAHP model promotes articulation in learning, planning, and…

  8. Should MD-PhD programs encourage graduate training in disciplines beyond conventional biomedical or clinical sciences?

    PubMed

    O'Mara, Ryan J; Hsu, Stephen I; Wilson, Daniel R

    2015-02-01

    The goal of MD-PhD training programs is to produce physician-scientists with unique capacities to lead the future biomedical research workforce. The current dearth of physician-scientists with expertise outside conventional biomedical or clinical sciences raises the question of whether MD-PhD training programs should allow or even encourage scholars to pursue doctoral studies in disciplines that are deemed nontraditional, yet are intrinsically germane to major influences on health. This question is especially relevant because the central value and ultimate goal of the academic medicine community is to help attain the highest level of health and health equity for all people. Advances in medical science and practice, along with improvements in health care access and delivery, are steps toward health equity, but alone they will not come close to eliminating health inequalities. Addressing the complex health issues in our communities and society as a whole requires a biomedical research workforce with knowledge, practice, and research skills well beyond conventional biomedical or clinical sciences. To make real progress in advancing health equity, educational pathways must prepare physician-scientists to treat both micro and macro determinants of health. The authors argue that MD-PhD programs should allow and encourage their scholars to cross boundaries into less traditional disciplines such as epidemiology, statistics, anthropology, sociology, ethics, public policy, management, economics, education, social work, informatics, communications, and marketing. To fulfill current and coming health care needs, nontraditional MD-PhD students should be welcomed and supported as valuable members of our biomedical research workforce.

  9. Should MD-PhD Programs Encourage Graduate Training in Disciplines Beyond Conventional Biomedical or Clinical Sciences?

    PubMed Central

    O'Mara, Ryan J.; Hsu, Stephen I.; Wilson, Daniel R.

    2014-01-01

    The goal of MD–PhD training programs is to produce physician–scientists with unique capacities to lead the future biomedical research workforce. The current dearth of physician–scientists with expertise outside conventional biomedical or clinical sciences raises the question of whether MD–PhD training programs should allow or even encourage scholars to pursue doctoral studies in disciplines that are deemed nontraditional, yet are intrinsically germane to major influences on health. This question is especially relevant since the central value and ultimate goal of the academic medicine community is to help attain the highest level of health and health equity for all people. Advances in medical science and practice, along with improvements in health care access and delivery, are steps toward health equity, but alone they will not come close to eliminating health inequalities. Addressing the complex health issues in our communities and society as a whole requires a biomedical research workforce with knowledge, practice, and research skills well beyond conventional biomedical or clinical sciences. To make real progress in advancing health equity, educational pathways must prepare physician–scientists to treat both micro and macro determinants of health. The authors argue that MD–PhD programs should allow and encourage their scholars to cross boundaries into less traditional disciplines such as epidemiology, statistics, anthropology, sociology, ethics, public policy, management, economics, education, social work, informatics, communications, and marketing. To fulfill current and coming health care needs, non-traditional MD–PhD students should be welcomed and supported as valuable members of our biomedical research workforce. PMID:25354071

  10. Defining the clinical pathway in cochrane diagnostic test accuracy reviews.

    PubMed

    Gopalakrishna, G; Langendam, Miranda W; Scholten, Rob J P M; Bossuyt, Patrick M M; Leeflang, Mariska M G

    2016-11-10

    The value of a medical test depends on the context in which it might be used. Ideally, questions, results and conclusions of a diagnostic test accuracy (DTA) systematic review should be presented in light of this context. There is increasing acceptance of the value for knowing the impact a test can have on downstream consequences such as costs, implications for further testing and treatment options however there is currently no explicit guidance on how to address this. Authors of a Cochrane diagnostic review have recently been asked to include the clinical pathway in which a test maybe used. We aimed to evaluate how authors were developing their clinical pathways in the light of this. We searched the Cochrane Database of Systematic Reviews for all published DTA reviews. We included only those reviews that included a clinical pathway. We developed a checklist, based on the guidance in the Cochrane Handbook for DTA review authors. To this, we added a number of additional descriptors. We checked if the included pathways fulfilled these descriptors as defined by our checklist. We found 47 reviews, of which 33 (73 %) contained aspects pertaining to a clinical pathway. The 33 reviews addressed the clinical pathway differently, both in content and format. Of these, 21 provided a textual description and 12 include visual and textual descriptions. There was considerable variation in how comprehensively review authors adhered to our checklist. Eighteen reviews (51 %) linked the index test results to downstream clinical management actions and patient consequences, but only eight went on to differentially report on the consequences for false negative results and nine on the consequences for false positive results. There is substantial variation in the clinical pathway descriptions in Cochrane systematic reviews of test accuracy. Most reviews do not link misclassifications (i.e. false negatives and false positive) to downstream patient consequences. Review authors could benefit

  11. Diagnostic and clinical factors associated with pulpal and periapical pain.

    PubMed

    Estrela, Carlos; Guedes, Orlando Aguirre; Silva, Júlio Almeida; Leles, Cláudio Rodrigues; Estrela, Cyntia Rodrigues de Araújo; Pécora, Jesus Djalma

    2011-01-01

    A retrospective survey was designed to identify diagnostic subgroups and clinical factors associated with odontogenic pain and discomfort in dental urgency patients. A consecutive sample of 1,765 patients seeking treatment for dental pain at the Urgency Service of the Dental School of the Federal University of Goiás, Brazil, was selected. Inclusion criteria were pulpal or periapical pain that occurred before dental treatment (minimum 6 months after the last dental appointment), and the exclusion criteria were teeth with odontogenic developmental anomalies and missing information or incomplete records. Clinical and radiographic examinations were performed to assess clinical presentation of pain complaints including origin, duration, frequency and location of pain, palpation, percussion and vitality tests, radiographic features, endodontic diagnosis and characteristics of teeth. Chi-square test and multiple logistic regression were used to analyze association between pulpal and periapical pain and independent variables. The most frequent endodontic diagnosis of pulpal pain were symptomatic pulpitis (28.3%) and hyperreactive pulpalgia (14.4%), and the most frequent periapical pain was symptomatic apical periodontitis of infectious origin (26.4%). Regression analysis revealed that closed pulp chamber and caries were highly associated with pulpal pain and, conversely, open pulp chamber was associated with periapical pain (p<0.001). Endodontic diagnosis and local factors associated with pulpal and periapical pain suggest that the important clinical factor of pulpal pain was closed pulp chamber and caries, and of periapical pain was open pulp chamber.

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

    PubMed Central

    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

  13. Clinical Laboratories – Production Factories or Specialized Diagnostic Centers

    PubMed Central

    Tóth, Judit

    2016-01-01

    Since a large proportion of medical decisions are based on laboratory results, clinical laboratories should meet the increasing demand of clinicians and their patients. Huge central laboratories may process over 10 million tests annually; they act as production factories, measuring emergency and routine tests with sufficient speed and accuracy. At the same time, they also serve as specialized diagnostic centers where well-trained experts analyze and interpret special test results. It is essential to improve and constantly monitor this complex laboratory service, by several methods. Sample transport by pneumatic tube system, use of an advanced laboratory information system and point-of-care testing may result in decreased total turnaround time. The optimization of test ordering may result in a faster and more cost-effective laboratory service. Autovalidation can save time for laboratory specialists, when the analysis of more complex results requires their attention. Small teams of experts responsible for special diagnostic work, and their interpretative reporting according to predetermined principles, may help to minimize subjectivity of these special reports. Although laboratory investigations have become so diversely developed in the past decades, it is essential that the laboratory can provide accurate results relatively quickly, and that laboratory specialists can support the diagnosis and monitoring of patients by adequate interpretation of esoteric laboratory methods. PMID:27683528

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

    PubMed

    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.

  15. Health informatics and analytics - building a program to integrate business analytics across clinical and administrative disciplines.

    PubMed

    Tremblay, Monica Chiarini; Deckard, Gloria J; Klein, Richard

    2016-07-01

    Health care organizations must develop integrated health information systems to respond to the numerous government mandates driving the movement toward reimbursement models emphasizing value-based and accountable care. Success in this transition requires integrated data analytics, supported by the combination of health informatics, interoperability, business process design, and advanced decision support tools. This case study presents the development of a master's level cross- and multidisciplinary informatics program offered through a business school. The program provides students from diverse backgrounds with the knowledge, leadership, and practical application skills of health informatics, information systems, and data analytics that bridge the interests of clinical and nonclinical professionals. This case presents the actions taken and challenges encountered in navigating intra-university politics, specifying curriculum, recruiting the requisite interdisciplinary faculty, innovating the educational format, managing students with diverse educational and professional backgrounds, and balancing multiple accreditation agencies.

  16. Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

    PubMed Central

    Trier, Henry; Krishnasamy, Vikram P.; Kasi, Pashtoon Murtaza

    2013-01-01

    The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency. The diagnosis of acute porphyrias, however, can be very challenging due to overlapping features amongst the various types. Initial suspicion is based on a myriad of clinical manifestations, which then are confirmed by laboratory testing where available. Genetic testing is now also available for the different types of porphyrias, aiding in the definitive diagnosis. Here, we present a challenging case of porphyria in a patient with end-stage renal disease and present the diagnostic challenges associated with the case and the ways forward. PMID:23476835

  17. [Lung mycobacteriosis--clinical presentation, diagnostics and treatment].

    PubMed

    Wilińska, Ewelina; Szturmowicz, Monika

    2010-01-01

    Nontuberculous mycobacteria (NTM) are a group of bacteria that may cause human disease mycobacteriosis, but do not cause tuberculosis or leprosy. NTM are acquired through environmental exposure to water, aerosols, soil, dust and are transferred to humans through inhalation, ingestion, and skin lesions, due to injuries, surgical procedures, or intravenous catheters. People with suppressed immune response, with pre-existing lung damage in the course of various lung diseases are most likely to be affected. There is no evidence of person-to-person spread of these diseases. A variety of manifestations of NTM infection have been described, but the lungs remain the most commonly involved site. Molecular methods allow the quicker differentiation of NTM from TB isolates and help to identify new NTM species. The purpose of this article is to review the common clinical manifestations of NTM lung disease, the conditions associated with NTM lung disease, diagnostic criteria and treatment of the most frequent species of NTM.

  18. Clinical value of in vitro diagnostic in asthma.

    PubMed

    Oehling, A

    1986-01-01

    The better comprehension of the dynamics involved in the etiopathogenesis of asthma in determined circumstances needs the complement of immunologic methods. The improved immunologic methods for the diagnosis of allergic diseases in the last twenty years has in general confirmed the results obtained by the intradermal test. However, it is important to bear in mind that in a reliable "in vivo" diagnostic, the technique has to be considered, and that there is a better correlation in the intracutaneous test than in the Prick one. Of the various immunologic tests carried out, the hemagglutination test offers a better reliability in the diagnosis of food-induced bronchial asthma, together with the histamine release test. In our experience, the RAST was less reliable when it came to the diagnosis of food allergy, though on the other hand it was applicable for inhalant allergens (pollens and dermatophagoides). In clinical practice and in daily routine work ups, all these techniques of course, impose an additional cost for diagnosis. Therefore, the use of sophisticated modern immunologic methods has to be reserved unless needed for clinical research, or as happens in some cases, for suspicious clinical histories with negative skin tests, in order to confirm the possible allergens responsible.

  19. Evaluation of a Statewide HIV-HCV-STD Online Clinical Education Program by Healthcare Providers - A Comparison of Nursing and Other Disciplines.

    PubMed

    Wang, Dongwen; Luque, Amneris E

    2016-01-01

    The New York State HIV-HCV-STD Clinical Education Initiative (CEI) has developed a large repository of online resources and disseminated them to a wide range of healthcare providers. To evaluate the CEI online education program and in particular to compare the self-reported measures by clinicians from different disciplines, we analyzed the data from 1,558 course completions in a study period of three months. The results have shown that the overall evaluations by the clinicians were very positive. Meanwhile, there were significant differences across the clinical disciplines. In particular, physicians and nurse practitioners were the most satisfied. In contrast, pharmacists and case/care managers recorded lower than average responses. Nurses and counselors had mixed results. Nurse practitioners' responses were very similar to physicians on most measures, but significantly different from nurses in many aspects. For more effective knowledge dissemination, online education programs should consider the unique needs by clinicians from specific disciplines.

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

    PubMed

    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

  1. Clinical advances of nanocarrier-based cancer therapy and diagnostics.

    PubMed

    Luque-Michel, Edurne; Imbuluzqueta, Edurne; Sebastián, Víctor; Blanco-Prieto, María J

    2017-01-01

    Cancer is a leading cause of death worldwide and efficient new strategies are urgently needed to combat its high mortality and morbidity statistics. Fortunately, over the years, nanotechnology has evolved as a frontrunner in the areas of imaging, diagnostics and therapy, giving the possibility of monitoring, evaluating and individualizing cancer treatments in real-time. Areas covered: Polymer-based nanocarriers have been extensively studied to maximize cancer treatment efficacy and minimize the adverse effects of standard therapeutics. Regarding diagnosis, nanomaterials like quantum dots, iron oxide nanoparticles or gold nanoparticles have been developed to provide rapid, sensitive detection of cancer and, therefore, facilitate early treatment and monitoring of the disease. Therefore, multifunctional nanosystems with both imaging and therapy functionalities bring us a step closer to delivering precision/personalized medicine in the cancer setting. Expert opinion: There are multiple barriers for these new nanosystems to enter the clinic, but it is expected that in the near future, nanocarriers, together with new 'targeted drugs', could replace our current treatments and cancer could become a nonfatal disease with good recovery rates. Joint efforts between scientists, clinicians, the pharmaceutical industry and legislative bodies are needed to bring to fruition the application of nanosystems in the clinical management of cancer.

  2. Diagnostic and clinical classification of autoimmune myasthenia gravis.

    PubMed

    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.

  3. Clinical reliability of the "furcation arrow" as a diagnostic marker.

    PubMed

    Deas, David E; Moritz, Alan J; Mealey, Brian L; McDonnell, Howard T; Powell, Charles A

    2006-08-01

    The radiographic entity known as the "furcation arrow" has long been used in practice even though little is known about its usefulness as a clinical indicator. The definitive study of the furcation arrow suggests that its presence on a radiograph reliably predicts furcation invasion, but this has not been confirmed in an in vivo investigation. The purpose of this study was to evaluate the furcation arrow in a clinical setting, testing the assertion that the furcation arrow image is an accurate predictor of furcation invasion. Specifically, we sought to determine the following. First, what is the prevalence of furcation arrow images in the radiographs of maxillary molars with periodontitis? Second, what is the interexaminer agreement on what constitutes a furcation arrow? Third, how does the presence or absence of a furcation arrow correlate with the true clinical status of the furcation? Fourth, what is the sensitivity and specificity of the furcation arrow as a diagnostic indicator? Eighty-nine patients requiring surgical treatment of periodontitis in the maxillary molar regions were included in this study. Before surgery, one of five calibrated examiners viewed periapical and bitewing radiographs of the surgical site and recorded the presence or absence of a furcation arrow at each proximal furcation. Before administering anesthesia, the same examiner recorded a Hamp index value of each proximal furcation, with a second Hamp index taken after flap reflection and debridement. After surgery, each of the four remaining examiners independently reviewed the radiographs for furcation arrows. Descriptive statistical analysis was performed to correlate the appearance of the furcation arrow image to the actual degree of furcation invasion as determined by the intrasurgical Hamp index. A total of 164 maxillary molars were examined, providing 328 interproximal furcations; 111 (33.8%) furcations were determined at surgical debridement to have a furcation invasion of Hamp

  4. Advancing Porous Silicon Biosensor Technology for Use in Clinical Diagnostics

    NASA Astrophysics Data System (ADS)

    Bonanno, Lisa Marie

    Inexpensive and robust analytical techniques for detecting molecular recognition events are in great demand in healthcare, food safety, and environmental monitoring. Despite vast research in this area, challanges remain to develop practical biomolecular platforms that, meet the rigorous demands of real-world applications. This includes maintaining low-cost devices that are sensitive and specific in complex test specimens, are stable after storage, have short assay time, and possess minimal complexity of instrumentation for readout. Nanostructured porous silicon (PSi) material has been identified as an ideal candidate towards achieving these goals and the past decade has seen diverse proof-of-principle studies developing optical-based sensing techniques. In Part 1 of this thesis, the impact of surface chemistry and PSi morphology on detection sensitivity of target molecules is investigated. Initial proof-of-concept that PSi devices facilitate detection of protein in whole blood is demonstrated. This work highlights the importance of material stability and blocking chemistry for sensor use in real world biological samples. In addition, the intrinisic filtering capability of the 3-D PSi morphology is shown as an advantage in complex solutions, such as whole blood. Ultimately, this initial work identified a need to improve detection sensitivity of the PSI biosensor technique to facilitate clinical diagnostic use over relevant target concentration ranges. The second part of this thesis, builds upon sensitivity challenges that are highlighted in the first part of the thesis and development of a surface-bound competitive inhibition immunoassay facilitated improved detection sensitivity of small molecular weight targets (opiates) over a relevant clinical concentration range. In addition, optimization of assay protocol addressed issues of maintaining stability of sensors after storage. Performance of the developed assay (specificity and sensitivity) was then validated in a

  5. Diagnostic Methods for Bile Acid Malabsorption in Clinical Practice

    PubMed Central

    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

  6. A Systematic Review of Studies Comparing Diagnostic Clinical Prediction Rules with Clinical Judgment

    PubMed Central

    Sanders, Sharon; Doust, Jenny; Glasziou, Paul

    2015-01-01

    Background Diagnostic clinical prediction rules (CPRs) are developed to improve diagnosis or decrease diagnostic testing. Whether, and in what situations diagnostic CPRs improve upon clinical judgment is unclear. Methods and Findings We searched MEDLINE, Embase and CINAHL, with supplementary citation and reference checking for studies comparing CPRs and clinical judgment against a current objective reference standard. We report 1) the proportion of study participants classified as not having disease who hence may avoid further testing and or treatment and 2) the proportion, among those classified as not having disease, who do (missed diagnoses) by both approaches. 31 studies of 13 medical conditions were included, with 46 comparisons between CPRs and clinical judgment. In 2 comparisons (4%), CPRs reduced the proportion of missed diagnoses, but this was offset by classifying a larger proportion of study participants as having disease (more false positives). In 36 comparisons (78%) the proportion of diagnoses missed by CPRs and clinical judgment was similar, and in 9 of these, the CPRs classified a larger proportion of participants as not having disease (fewer false positives). In 8 comparisons (17%) the proportion of diagnoses missed by the CPRs was greater. This was offset by classifying a smaller proportion of participants as having the disease (fewer false positives) in 2 comparisons. There were no comparisons where the CPR missed a smaller proportion of diagnoses than clinical judgment and classified more participants as not having the disease. The design of the included studies allows evaluation of CPRs when their results are applied independently of clinical judgment. The performance of CPRs, when implemented by clinicians as a support to their judgment may be different. Conclusions In the limited studies to date, CPRs are rarely superior to clinical judgment and there is generally a trade-off between the proportion classified as not having disease and the

  7. Diagnostic Profiles and Clinical Characteristics of Youth Referred to a Pediatric Mood Disorders Clinic

    PubMed Central

    Weintraub, Marc J.; Youngstrom, Eric A.; Marvin, Sarah E.; Podell, Jennifer L.; Walshaw, Patricia D.; Kim, Eunice Y.; Suddath, Robert L.; Forgey, Marcy J.; Matkevich, Brittany N.; Miklowitz, David J.

    2013-01-01

    Objectives The current study examined the diagnostic profiles and clinical characteristics of youth (ages 6–18) referred for diagnostic evaluation to a pediatric mood disorders clinic that specialized in early-onset bipolar disorder. Method A total of 250 youth were prescreened in an initial telephone intake and 73 participated in a full diagnostic evaluation. Trained psychologists administered the Schedule for Affective Disorders for Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS-PL) to the child and at least one parent, and a child psychiatrist conducted a separate pharmacological evaluation. Evaluators then met with a larger clinical team for a consensus diagnostic conference. Results Based on consensus diagnoses, 13 of the 73 referred youth (18%) met lifetime DSM-IV-TR criteria for bipolar I, II or not otherwise specified (NOS) disorder. The most common Axis I diagnoses were attention deficit-hyperactivity disorder (31/73, 42.5%) and major depressive disorder (23/73, 32%). Of the 73 youth, 27 (37%) were referred to the speciality clinic with a community diagnosis of BSD, but only 7 of these (26%) met the DSM-IV-TR criteria for a bipolar spectrum diagnosis (BD I, II, cyclothymic disorder, or NOS) based on structured interview and consensus diagnoses. Conclusions When youth referred for evaluation of BSD are diagnosed using standardized interviews with multiple reporters and consensus conferences, the “true positive” rate for bipolar spectrum diagnoses is relatively low. Reasons for the discrepancy between community and research-based diagnoses of pediatric BSD – including the tendency to stretch the BSD criteria to include children with depressive episodes and only 1–2 manic symptoms - are discussed. PMID:24638051

  8. A framework for clinical evaluation of diagnostic technologies.

    PubMed Central

    Guyatt, G H; Tugwell, P X; Feeny, D H; Haynes, R B; Drummond, M

    1986-01-01

    Most new diagnostic technologies have not been adequately assessed to determine whether their application improves health. Comprehensive evaluation of diagnostic technologies includes establishing technologic capability and determining the range of possible uses, diagnostic accuracy, impact on the health care provider, therapeutic impact and impact on patient outcome. Guidelines to determine whether each of these criteria have been met adequately are presented. Diagnostic technologies should be disseminated only if they are less expensive, produce fewer untoward effects and are at least as accurate as existing methods, if they eliminate the need for other investigations without loss of accuracy, or if they lead to institution of effective therapy. Establishing patient benefit often requires a randomized controlled trial in which patients receive the new test or an alternative diagnostic strategy. Other study designs are logistically less difficult but may not provide accurate assessment of benefit. Rigorous assessment of diagnostic technologies is needed for efficient use of health care resources. PMID:3512062

  9. [20-year experience with laserofluorescent diagnostics in clinical microbiology].

    PubMed

    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.

  10. Robert Apfel's contribution to clinical diagnostic ultrasound: The mechanical index

    NASA Astrophysics Data System (ADS)

    Holland, Christy K.

    2004-05-01

    The mechanical index, MI, resulted from theoretical considerations of the short-pulse acoustic threshold for inertial cavitation in water populated with microbubbles of all sizes [R. E. Apfel and C. K. Holland, Ultrasound Med Biol. 17, 179-185 (1991)]. In this review, the onset of cavitation will be discussed with reference to Robert Apfel's legacy of theoretical and experimental data. The questions arise: Can the utility of the MI be extended to situations in which the threshold MI is exceeded, thereby allowing for some estimate of the quantification of a potential bioeffect due to microcavitation? Also, can the MI be extended to situations in which pulses are, unlike the original formulation, not short? Is there a theoretical or semi-empirical basis for the MI threshold below which cavitation is unlikely? Can the MI be used to predict gas contrast agent destruction? The possible consequences of gas body activation associated with aerated lung tissue, intestinal gas pockets or encapsulated gas contrast agents represent specific instances of cavitation considerations relevant to clinical practice. Monitoring the real-time display of the MI (mandated by the FDA) helps clinicians evaluate and minimize the potential risks in the use of diagnostic ultrasound instrumentation. [Research supported by National Institutes of Health Grant R29 HL58761.

  11. Variability in pathogenicity prediction programs: impact on clinical diagnostics

    PubMed Central

    Walters-Sen, Lauren C; Hashimoto, Sayaka; Thrush, Devon Lamb; Reshmi, Shalini; Gastier-Foster, Julie M; Astbury, Caroline; Pyatt, Robert E

    2015-01-01

    Current practice by clinical diagnostic laboratories is to utilize online prediction programs to help determine the significance of novel variants in a given gene sequence. However, these programs vary widely in their methods and ability to correctly predict the pathogenicity of a given sequence change. The performance of 17 publicly available pathogenicity prediction programs was assayed using a dataset consisting of 122 credibly pathogenic and benign variants in genes associated with the RASopathy family of disorders and limb-girdle muscular dystrophy. Performance metrics were compared between the programs to determine the most accurate program for loss-of-function and gain-of-function mechanisms. No one program correctly predicted the pathogenicity of all variants analyzed. A major hindrance to the analysis was the lack of output from a significant portion of the programs. The best performer was MutPred, which had a weighted accuracy of 82.6% in the full dataset. Surprisingly, combining the results of the top three programs did not increase the ability to predict pathogenicity over the top performer alone. As the increasing number of sequence changes in larger datasets will require interpretation, the current study demonstrates that extreme caution must be taken when reporting pathogenicity based on statistical online protein prediction programs in the absence of functional studies. PMID:25802880

  12. Thermographic diagnostics to discriminate skin lesions: a clinical study

    NASA Astrophysics Data System (ADS)

    Stringasci, Mirian Denise; Moriyama, Lilian Tan; Salvio, Ana Gabriela; Bagnato, Vanderlei Salvador; Kurachi, Cristina

    2015-06-01

    Cancer is responsible for about 13% of all causes of death in the world. Over 7 million people die annually of this disease. In most cases, the survival rates are greater when diagnosed in early stages. It is known that tumor lesions present a different temperature compared with the normal tissues. Some studies have been performed in an attempt to establish new diagnosis methods, targeting this temperature difference. In this study, we aim to investigate the use of a handheld thermographic camera to discriminate skin lesions. The patients presenting Basal Cell Carcinoma, Squamous Cell Carcinoma, Actinic Keratosis, Pigmented Seborrheic Keratosis, Melanoma or Intradermal Nevus lesions have been investigated at the Skin Departament of Amaral Carvalho Hospital. Patients are selected by a dermatologist, and the lesion images are recorded using an infrared camera. The images are evaluated taken into account the temperature level, and differences into lesion areas, borders, and between altered and normal skin. The present results show that thermography may be an important tool for aiding in the clinical diagnostics of superficial skin lesions.

  13. Free DNA – new potential analyte in clinical laboratory diagnostics?

    PubMed Central

    Wagner, Jasenka

    2012-01-01

    The existence of cell free DNA in the human circulatory system has been known since the 1950s, however, intensive research in this area has been conducted for the last ten years. This review paper brings a short overview of the existing literature concerning the cell free DNA research in various clinical fields and pathological states and considers the application possibilities of this new analyte in clinical laboratory diagnostics. At the moment, cell free DNA is most widely used for the purpose of non-invasive prenatal diagnosis of fetal sex or fetal RhD status. The recent discovery of epigenetic changes in placental/fetal DNA and the detection of fetal/placental-specific RNAs have made it possible to use this technology in all pregnancies irrespective of the gender of the fetus. With the application of new techniques such as next generation sequencing, digital PCR and mass spectrometry, it is now possible to detect very small amounts of specific DNA in the presence of excess of other nonspecific nucleic acids. Second most probable application is in oncology, where detection and monitoring of tumors is now possible by the detection of tumor-derived nucleic acids. Third promising field for near future implementation of this analyte is transplantation medicine, where free DNA level could serve as a marker of transplant rejection. Before any further utilization of this new biomarker, pre-analytical and analytical aspects of free DNA analysis remain to be standardized. In the field of noninvasive prenatal diagnosis, important ethical, legal and social questions remain to be discussed. PMID:22384517

  14. The Importance of Considering Clinical Utility in the Construction of a Diagnostic Manual.

    PubMed

    Mullins-Sweatt, Stephanie N; Lengel, Gregory J; DeShong, Hilary L

    2016-01-01

    The development of major diagnostic manuals primarily has been guided by construct validity rather than clinical utility. The purpose of this article is to summarize recent research and theory examining the importance of clinical utility when constructing and evaluating a diagnostic manual. We suggest that construct validity is a necessary but not sufficient criterion for diagnostic constructs. This article discusses components of clinical utility and how these have applied to the current and forthcoming diagnostic manuals. Implications and suggestions for future research are provided.

  15. Clinical technique: techniques in the practice diagnostic laboratory: a review.

    PubMed

    Doneley, Bob

    2015-01-01

    The need to rapidly diagnose disease in avian/exotic animal patients has led to the increased use of on-site diagnostic testing by veterinarians treating these animals. This article explores the use of on-site veterinary diagnostic testing: advantages and disadvantages of such testing; tests that are performed; type of equipment available; and the need for quality control.

  16. 42 CFR 414.508 - Payment for a new clinical diagnostic laboratory test.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 42 Public Health 3 2014-10-01 2014-10-01 false Payment for a new clinical diagnostic laboratory test. 414.508 Section 414.508 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF... HEALTH SERVICES Payment for New Clinical Diagnostic Laboratory Tests § 414.508 Payment for a new...

  17. 42 CFR 414.508 - Payment for a new clinical diagnostic laboratory test.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 3 2010-10-01 2010-10-01 false Payment for a new clinical diagnostic laboratory test. 414.508 Section 414.508 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF... SERVICES Payment for New Clinical Diagnostic Laboratory Tests § 414.508 Payment for a new...

  18. 42 CFR 414.508 - Payment for a new clinical diagnostic laboratory test.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 3 2011-10-01 2011-10-01 false Payment for a new clinical diagnostic laboratory test. 414.508 Section 414.508 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF... SERVICES Payment for New Clinical Diagnostic Laboratory Tests § 414.508 Payment for a new...

  19. 42 CFR 414.508 - Payment for a new clinical diagnostic laboratory test.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 42 Public Health 3 2012-10-01 2012-10-01 false Payment for a new clinical diagnostic laboratory test. 414.508 Section 414.508 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF... HEALTH SERVICES Payment for New Clinical Diagnostic Laboratory Tests § 414.508 Payment for a new...

  20. 42 CFR 414.508 - Payment for a new clinical diagnostic laboratory test.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 42 Public Health 3 2013-10-01 2013-10-01 false Payment for a new clinical diagnostic laboratory test. 414.508 Section 414.508 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF... HEALTH SERVICES Payment for New Clinical Diagnostic Laboratory Tests § 414.508 Payment for a new...

  1. Ceramics Studio to Podiatry Clinic: The Impact of Multimedia Resources in the Teaching of Practical Skills across Diverse Disciplines

    ERIC Educational Resources Information Center

    Matheson, Ruth; Mathieson, Ian

    2016-01-01

    This paper draws on the experiences of students from two vastly different disciplines to both explore the theoretical background supporting the use of multimedia resources to teach practical skills and provide a qualitative evaluation of student perceptions and experiences of using bespoke resources. Within ceramics and podiatry, practical skills…

  2. Ceramics Studio to Podiatry Clinic: The Impact of Multimedia Resources in the Teaching of Practical Skills across Diverse Disciplines

    ERIC Educational Resources Information Center

    Matheson, Ruth; Mathieson, Ian

    2016-01-01

    This paper draws on the experiences of students from two vastly different disciplines to both explore the theoretical background supporting the use of multimedia resources to teach practical skills and provide a qualitative evaluation of student perceptions and experiences of using bespoke resources. Within ceramics and podiatry, practical skills…

  3. The Dance with The Discipline.

    PubMed

    Spivey, K C

    2001-01-01

    The author became acquainted with The Discipline only recently and this article describes two pastoral visits in which The Discipline provides guidance for interactive presence. Thus this material represents how the author seeks to grasp and integrate it into her clinical practice in a short time.

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

    PubMed

    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.

  5. A semi-automated, field-portable microscopy platform for clinical diagnostic applications

    NASA Astrophysics Data System (ADS)

    Jagannadh, Veerendra Kalyan; Srinivasan, Rajesh; Gorthi, Sai Siva

    2015-08-01

    Clinical microscopy is a versatile diagnostic platform used for diagnosis of a multitude of diseases. In the recent past, many microfluidics based point-of-care diagnostic devices have been developed, which serve as alternatives to microscopy. However, these point-of-care devices are not as multi-functional and versatile as clinical microscopy. With the use of custom designed optics and microfluidics, we have developed a versatile microscopy-based cellular diagnostic platform, which can be used at the point of care. The microscopy platform presented here is capable of detecting infections of very low parasitemia level (in a very small quantity of sample), without the use of any additional computational hardware. Such a cost-effective and portable diagnostic device, would greatly impact the quality of health care available to people living in rural locations of the world. Apart from clinical diagnostics, it's applicability to field research in environmental microbiology has also been outlined.

  6. 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

    ERIC Educational Resources Information Center

    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…

  7. 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

    ERIC Educational Resources Information Center

    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…

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

    PubMed

    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.

  9. Use of Ayurvedic diagnostic criteria in Ayurvedic clinical trials: a literature review focused on research methods.

    PubMed

    Brar, Bhupinder S; Chhibber, Richa; Srinivasa, Vani Murthy H; Dearing, Bianca A; McGowan, Richard; Katz, Ralph V

    2012-01-01

    The objective of this literature review is to evaluate whether Ayurvedic diagnostic criteria or Western medicine diagnostic criteria have been used in published clinical trials testing an Ayurvedic intervention/treatment. The PubMed, Embase, and Allied and Complementary Medicine databases were searched to identify Ayurvedic clinical trials published from 1980 to 2009. A total of 45 Ayurvedic clinical trials were identified and grouped into two time periods: pre- and post-2000 periods. Each article was independently reviewed by two calibrated reviewers. Analysis revealed that not 1 of these 45 studies, in either time period, reported "only-and-full" use of the 23 available Ayurvedic diagnostic criteria. In fact, 24.4% of these 45 articles never specified any diagnostic criteria at all. While the percentage of articles using Ayurvedic diagnostic criteria (either as "only use" or "combined use with Western Medicine diagnostic criteria") doubled over the two time periods (27.7% to 59%), rarely were more than 2 of the 23 Ayurvedic diagnostic criteria ever used. To improve confidence in their findings, future studies should strive to correct this observed inappropriate and gross underuse of Ayurvedic diagnostic criteria in the designing of clinical studies that aim to rigorously test the effectiveness of Ayurvedic treatments.

  10. Diagnoses and Presenting Symptoms in an Infant Psychiatry Clinic: Comparison of Two Diagnostic Systems.

    ERIC Educational Resources Information Center

    Frankel, Karen A.; Boyum, Lisa A.; Harmon, Robert J.

    2004-01-01

    Objective: To present data from a general infant psychiatry clinic, including range and frequency of presenting symptoms, relationship between symptoms and diagnoses, and comparison of two diagnostic systems, DSM-IV and Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC: 0-3). Method: A…

  11. Diagnoses and Presenting Symptoms in an Infant Psychiatry Clinic: Comparison of Two Diagnostic Systems.

    ERIC Educational Resources Information Center

    Frankel, Karen A.; Boyum, Lisa A.; Harmon, Robert J.

    2004-01-01

    Objective: To present data from a general infant psychiatry clinic, including range and frequency of presenting symptoms, relationship between symptoms and diagnoses, and comparison of two diagnostic systems, DSM-IV and Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC: 0-3). Method: A…

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

    PubMed Central

    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. PMID:26392755

  13. Diagnostic measure to quantify loss of clinical components in multi-lead electrocardiogram

    PubMed Central

    Sharma, L.N.; Dandapat, S.

    2016-01-01

    In this Letter, a novel principal component (PC)-based diagnostic measure (PCDM) is proposed to quantify loss of clinical components in the multi-lead electrocardiogram (MECG) signals. The analysis of MECG shows that, the clinical components are captured in few PCs. The proposed diagnostic measure is defined as the sum of weighted percentage root mean square difference (PRD) between the PCs of original and processed MECG signals. The values of the weight depend on the clinical importance of PCs. The PCDM is tested over MECG enhancement and a novel MECG data reduction scheme. The proposed measure is compared with weighted diagnostic distortion, wavelet energy diagnostic distortion and PRD. The qualitative evaluation is performed using Spearman rank-order correlation coefficient (SROCC) and Pearson linear correlation coefficient. The simulation result demonstrates that the PCDM performs better to quantify loss of clinical components in MECG and shows a SROCC value of 0.9686 with subjective measure.

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

    PubMed

    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.

  15. Salivary Biomarkers: Toward Future Clinical and Diagnostic Utilities

    PubMed Central

    Yoshizawa, Janice M.; Schafer, Christopher A.; Schafer, Jason J.; Farrell, James J.; Paster, Bruce J.

    2013-01-01

    SUMMARY The pursuit of timely, cost-effective, accurate, and noninvasive diagnostic methodologies is an endeavor of urgency among clinicians and scientists alike. Detecting pathologies at their earliest stages can significantly affect patient discomfort, prognosis, therapeutic intervention, survival rates, and recurrence. Diagnosis and monitoring often require painful invasive procedures such as biopsies and repeated blood draws, adding undue stress to an already unpleasant experience. The discovery of saliva-based microbial, immunologic, and molecular biomarkers offers unique opportunities to bypass these measures by utilizing oral fluids to evaluate the condition of both healthy and diseased individuals. Here we discuss saliva and its significance as a source of indicators for local, systemic, and infectious disorders. We highlight contemporary innovations and explore recent discoveries that deem saliva a mediator of the body's physiological condition. Additionally, we examine the current state of salivary diagnostics and its associated technologies, future aspirations, and potential as the preferred route of disease detection, monitoring, and prognosis. PMID:24092855

  16. [Clinical application of diagnostic therapy of praziquantel for suspected cere- bral cysticercosis].

    PubMed

    Li, Yan; Sun, Li; Chen, Chuang; Yang, Chun-mei

    2015-10-01

    To explore the clinical application value of diagnostic therapy of praziquantel for suspected cerebral cysticercosis. The suspected cerebral cysticercosis patients were collected and treated with the diagnostic therapy [praziquantel, 50 mg/(kg · d)], and followed up for 1-2 years. Totally 94 suspected cerebral cysticercosis patients were collected. After the diagnostic therapy, 78 (82.98%) cases were confirmed as cerebral cysticercosis, 13 (13.83%) were diagnosed as other diseases, and 3 (3.19%) were not definitely diagnosed. The diagnostic therapy for suspected cerebral cysticercosis can reduce or avoid the missed diagnosis and misdiagnosis in some atypical cerebral cysticercosis patients.

  17. [Diagnostic difficulty of abdominal wall endometrioma: clinical case and literature review].

    PubMed

    Martínez, Denzil Garteiz; Romano, Rafael Carbo; Sánchez, Alejandro Weber; Horcasitas, Lourdes Molinar

    2008-02-01

    Abdominal wall endometrioma is a rare clinical condition with which the general surgeon is faced and usually presents a diagnostic challenge due to the similar signs and symptoms that this illness shares with other tumors of the abdominal wall. A clinical case which exemplifies this diagnostic challenge is presented, and a review is made about the physiopathology, diagnosis and treatment of abdominal wall endometriomas, emphasizing on the different diagnoses with which it can be confused.

  18. [Enlarged vestibular aqueduct syndrome: etiology, clinical features, diagnostics, and rehabilitation of the patients].

    PubMed

    Zelikovich, E I; Tropchina, L V; Kurilenkov, G V

    2015-01-01

    This publication was designed to describe the clinical manifestations of the enlarged vestibular aqueduct syndrome (EVAS), the currently employed methods for its diagnostics, and the strategy for the rehabilitation of the patients presenting with this pathological condition. In addition, the article provides information about the topographic anatomy and X-ray anatomy of the vestibular aqueduct, the specific clinical features of EVAS, the modern algorithm of its diagnostics, and the facilities for hearing rehabilitation in this group of patients.

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

    PubMed

    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.

  20. [Diagnostic error in the clinical area. A discussion contribution].

    PubMed

    Stallinger, H; Geissler, W

    1989-04-01

    Regarding the great number and the possible consequences for the patient it's surprising that there is almost no discussion concerning wrong diagnoses in medicine. Based on the experience of a working team at a center for general pediatric surgery we tried to recognize the most common mechanisms leading to wrong or insufficient diagnoses. For better illustration we describe the histories of six patients; in their cases the diagnostic errors could probably have been avoided by an exact examination procedure. One way to decrease pitfalls in daily medicin life seems to be the reflexion upon the errors and try to minimize them and their sources.

  1. Subungual Squamous Cell Carcinoma: The Diagnostic Challenge and Clinical Pearls

    PubMed Central

    Kok, Wai Leong; Lee, Joyce Siong See; Chio, Martin Tze-wei

    2016-01-01

    Subungual squamous cell carcinoma is a rare entity and difficult to diagnose as its clinical presentation may resemble benign conditions. This case report highlights the need to maintain a high clinical index of suspicion, and recommends a practical approach for subungual conditions. Dermoscopy and a biopsy for histology are important adjuncts to clinch the diagnosis. PMID:27920677

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

    PubMed Central

    Kapoor, Rakesh; Ansari, M. S.; Mandhani, Anil; Gulia, Anil

    2008-01-01

    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. PMID:19468477

  3. Cytomorphology of male breast lesions: diagnostic pitfalls and clinical implications.

    PubMed

    Rosa, Marilin; Masood, Shahla

    2012-02-01

    Because lesions of the male breast have been exceeded in number by those of the female breast, marginal attention was given to these lesions in the past. Fortunately, this has changed over the years leading to an increased awareness about male breast cancer. Although male breast cancer constitutes only about 1% of all diagnosed breast cancer cases, an increased mortality is seen in this patient population. This is probably caused by late diagnosis as a consequence of low level of concern about breast cancer among male patients. However, the vast majority of lesions of the male breast are benign, gynecomastia being the number one cause of unilateral or bilateral breast mass. Since it is important to avoid unnecessary surgical treatment without missing malignancy, accurate diagnostic tools are necessary in order to triage these patients. Fine-needle aspiration biopsy has demonstrated excellent accuracy in the diagnosis and management of breast lesions in female patients. In addition, several authors have proven the value of this technique in the evaluation of lesions of the male breast. Fine-needle aspiration biopsy permits accurate diagnosis in many lesions arising in the male breast. It also allows gathering cytological material that can be used for ancillary studies which enhances the diagnostic value of this technique.

  4. [Molecular diagnostics in neuropathology].

    PubMed

    Dietmaier, W; Lorenz, J; Riemenschneider, M J

    2015-03-01

    As in only few other areas of oncology, molecular markers in neurooncology have become an integral part of clinical decision-making. This development is driven by a bustling scientific activity exploring the molecular basis and pathogenesis of human brain tumors. In addition, a high percentage of brain tumor patients are included in clinical studies in which molecular markers are assessed and linked with clinical informativeness. First steps towards more differentiated therapeutic strategies against brain tumors have thus been taken. The implementation in the clinical and diagnostic routine requires a detailed knowledge and a close collaboration between all medical disciplines involved.

  5. Diagnostic application of clinical exome sequencing in Leber congenital amaurosis

    PubMed Central

    Han, Jinu; Rim, John Hoon; Hwang, In Sik; Kim, Jieun; Shin, Saeam; Choi, Jong Rak

    2017-01-01

    Purpose Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. Methods A total of nine unrelated Korean patients with LCA were sequenced using the Illumina TruSight One panel, which targets 4,813 clinically associated genes, followed by confirmation using Sanger sequencing. Patients’ clinical information and familial study results were obtained and used for comprehensive interpretation. Results In all nine patients, we identified pathogenic variations in LCA-associated genes: NMNAT1 (n=3), GUCY2D (n=2), RPGRIP1 (n=2), CRX (n=1), and CEP290 or SPATA7. Six patients had one or two mutations in accordance with inheritance patterns, all consistent with clinical phenotypes. Two patients had only one pathogenic mutation in recessive genes (NMNAT1 and RPGRIP1), and the clinical features were specific to disorders associated with those genes. Six patients were solved for genetic causes, and it remains unclear for three patients with the clinical exome panel. With subsequent targeted panel sequencing with 113 genes associated with infantile nystagmus syndrome, a likely pathogenic allele in CEP290 was detected in one patient. Interestingly, one pathogenic variant (p.Arg237Cys) in NMNAT1 was present in three patients, and it had a high allele frequency (0.24%) in the general Korean population, suggesting that NMNAT1 could be a major gene responsible for LCA in Koreans. Conclusions We confirmed that a commercial clinical exome panel can be effectively used in the diagnosis of LCA. Careful interpretation and clinical correlation could promote the successful implementation of clinical exome panels in routine diagnoses of retinal dystrophies, including LCA.

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

    PubMed Central

    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

  7. Clinical Diagnostic Clues in Crohn's Disease: A 41-Year Experience

    PubMed Central

    Quintana, C.; Galleguillos, L.; Benavides, E.; Quintana, J. C.; Zúñiga, A.; Duarte, I.; Klaassen, J.; Kolbach, M.; Soto, R. M.; Iacobelli, S.; Álvarez, M.; O'Brien, A.

    2012-01-01

    Determining the diagnosis of Crohn's disease has been highly difficult mainly during the first years of this study carried out at the Pontificia Universidad Catolica (PUC) Clinical Hospital. For instance, it has been frequently confused with Irritable bowel syndrome and sometimes misdiagnosed as ulcerative colitis, infectious colitis or enterocolitis, intestinal lymphoma, or coeliac disease. Consequently, it seems advisable to characterize what the most relevant clinical features are, in order to establish a clear concept of Crohn's disease. This difficulty may still be a problem at other medical centers in developing countries. Thus, sharing this information may contribute to a better understanding of this disease. Based on the clinical experience gained between 1963 and 2004 and reported herein, the main clinical characteristics of the disease are long-lasting day and night abdominal pain, which becomes more intense after eating and diarrhoea, sometimes associated to a mass in the abdomen, anal lesions, and other additional digestive and nondigestive clinical features. Nevertheless, the main aim of this work has been the following: is it possible to make, in an early stage, the diagnosis of Crohn's disease with a high degree of certainty exclusively with clinical data? PMID:23213555

  8. Cerebral radiation necrosis: diagnostic challenge and clinical management.

    PubMed

    Eisele, S C; Dietrich, J

    2015-09-01

    Cerebral radiation is an indispensable cornerstone in the treatment of many primary and metastatic brain tumors. However, besides its desired therapeutic effect on tumor cells, a significant proportion of patients will experience neurotoxic side effects as the consequence of radiotherapy. Radiation necrosis can result in progressive neurological symptoms and radiographic changes. To differentiate radiation necrosis from progressive tumor based on imaging can pose a diagnostic challenge because the MRI characteristics may be similar in both situations. Therefore, surgical biopsy and pathological confirmation is sometimes necessary to guide further management. Effective treatment options for cerebral radiation necrosis exist and should be offered to symptomatic patients. A better understanding of the cellular and molecular processes underlying the development of radiation necrosis is necessary to prevent and minimize radiation-associated morbidity and to improve treatment strategies.

  9. Clinical and diagnostic features and treatment of giardiasis.

    PubMed

    Begaydorova, R Kh; Nasakaeva, G E; Tabagari, S I; Iukhnevich, E A; Alshinbekova, G K

    2014-11-01

    Giardia is the most common causes of protozoan diarrhea that lead to significant morbidity and mortality worldwide. Giardiasis can be cause of disturbance of host immune response. The treatment of Giardiasis is unsuccessful in some cases. The purpose of this study was to determine the clinical features and the content of secretory immunoglobulin A (sIgA) among adults and to evaluate efficiency of new plant preparation "Sausalin". The clinical studies were conducted in Karaganda Regional Infection Hospital (Kazakhstan). 250 patients with giardiasis were randomly assigned to receive sausalin at a dose 720 mg/day or ornidazole at 1500 mg/day. Clinical symptoms of giardisis and efficiency of treatment were evaluated. Protozoal clearance rate and clinical symptoms were assessed. Stool samples were collected from 40 patients and examined the content of sIgA. Our study found the prevalence of abdominal pain, dyspeptic syndrome and the symptoms of intoxication in patients with giardiasis. The increase the level of sIgA was detected, especially in females (88 mg/l). Sausalin was more effectiveness than ornidazole. After the treatment, the clearance rate of giardia (85.71% vs. 42.19%; P<0.05) and the clinical efficacy were significantly higher in the sausalin-treated group than in the ornidazole-treated group. The features of clinic manifestations of giardiasis were identified in population of Kazakhstan. Our data suggest the higher level of sIgA was significantly associated with features of clinic manifestations that the participant had. Treatment with sausalin was more effective than treatment with ornidazole. Further research is needed to explain the existence relationship between Giardia infection and host immune response.

  10. Diagnostic and functional structure of a high-resolution thyroid nodule clinic.

    PubMed

    Fernández-García, José Carlos; Mancha-Doblas, Isabel; Ortega-Jiménez, María Victoria; Ruiz-Escalante, José Francisco; Castells-Fusté, Ignasi; Tofé-Povedano, Santiago; Argüelles-Jiménez, Iñaki; Tinahones, Francisco José

    2014-01-01

    Appearance of a thyroid nodule has become a daily occurrence in clinical practice. Adequate thyroid nodule assessment requires several diagnostic tests and multiple medical appointments, which results in a substantial delay in diagnosis. Implementation of a high-resolution thyroid nodule clinic largely avoids these drawbacks by condensing in a single appointment all tests required for adequate evaluation of thyroid nodule. This paper reviews the diagnostic and functional structure of a high-resolution thyroid nodule clinic. Copyright © 2013 SEEN. Published by Elsevier Espana. All rights reserved.

  11. Connectionist Modeling as the Basis for Multimedia Clinical Patient Simulations with Diagnostic Capabilities.

    ERIC Educational Resources Information Center

    Bergeron, Bryan P.; And Others

    1995-01-01

    Presents a connectionist approach to modeling that relies on neural networks to control conventional simulations of multimedia clinical patient simulations. These neural networks simplify the medical expert's task of validating and maintaining patient simulations with diagnostic capabilities and serves as the basis of clinical decision support…

  12. Diagnostic games: from adequate formalization of clinical experience to structure discovery.

    PubMed

    Shifrin, Michael A; Kasparova, Eva I

    2008-01-01

    A method of obtaining well-founded and reproducible results in clinical decision making is presented. It is based on "diagnostic games", a procedure of elicitation and formalization of experts' knowledge and experience. The use of this procedure allows formulating decision rules in the terms of an adequate language, that are both unambiguous and clinically clear.

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

    PubMed

    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.

  14. Connectionist Modeling as the Basis for Multimedia Clinical Patient Simulations with Diagnostic Capabilities.

    ERIC Educational Resources Information Center

    Bergeron, Bryan P.; And Others

    1995-01-01

    Presents a connectionist approach to modeling that relies on neural networks to control conventional simulations of multimedia clinical patient simulations. These neural networks simplify the medical expert's task of validating and maintaining patient simulations with diagnostic capabilities and serves as the basis of clinical decision support…

  15. [Evaluation of the clinical diagnostic reasoning. Use of dynamic attractors as an alternative].

    PubMed

    Prado-Vega, Rodolfo; Zacatelco-Ramírez, Oliva R; Ortiz-Montalvo, Armando; Ponce de León-Castañeda, Ma Eugenia

    2002-01-01

    The purpose of this study was to apply diagnostic clinical reasoning, based upon cognitive teaching, to help the student develop their own mental structure of an ailment or disease. Such a structure is built as mathematical chaotic deterministic type that can be evaluated through identification of dynamic attractors. To achieve our purpose, clinical diagnostic reasoning skills of two groups of students was compared against those of an expert through revision of 17 clinical cases. Such revision, selection of relevant data, allows for construction of conceptual maps in which several dynamic attractors can be identified, based on the largest number of connections that stem from some concepts. In the majority of cases, statistical analysis showed similarity among types of connections established by the expert; several similar dynamic attractors could be identified, leading us to conclude that cognitive-based teaching of diagnostic clinical reasoning is useful in developing this type of skill, and that it can be evaluated through identification of dynamic attractors.

  16. Evaluating the value of genomic diagnostics: implications for clinical practice and public policy.

    PubMed

    Issa, Amalia M

    2008-01-01

    An important current trend in health care is the move toward personalized medicine. Personalized medicine includes diagnostic and therapeutic interventions, with risk defined through genetics. The key paradigm shift brought about by the advent of personalized medicine is the increased use of in vitro genomic diagnostics. These tests offer the potential of being able to predict which patients are likely to respond to a particular drug, or which patients are likely to develop adverse reactions to a drug. The focus of this paper is the use of genomic diagnostics, and how the increasing development and translation into clinical practice of diagnostic--drug combination products will be adopted into health care delivery. The meaning of value and how to measure it is considered from different perspectives. A novel framework for evaluating the value of genomic diagnostics is proposed. Finally, the implications for regulatory approval and policy are discussed using an illustrative case study.

  17. 50 years LASERS: in vitro diagnostics, clinical applications and perspectives.

    PubMed

    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 (< 100 femtoseconds) camera, enabling scientists to take stop-motion pictures, on the nanoscale, of atoms

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

    PubMed

    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.

  19. [Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options].

    PubMed

    Martos-Moreno, Gabriel A; Calzada, Joan; Couce, María L; Argente, Jesús

    2017-07-15

    Hypophosphatasia is a very rare bone metabolism disorder caused by a deficiency in alkaline phosphatase activity, due to mutations in the ALPL gene. Its clinical hallmark is the impairment of skeletal and teeth mineralisation, although extra-skeletal manifestations are frequent. Its phenotypic spectrum is widely variable from a subtype with exclusive odontological impairment (odontohypophosphatasia) to five subtypes with systemic involvement, classified according to the age at the onset of the first symptoms (four of them in the paediatric age range: perinatal lethal, perinatal benign, infant and childhood hypophosphatasia). Those subtypes of hypophosphatasia with an earliest onset usually involve a worse prognosis, due to the risk of developing potentially lethal complications, such as seizures or severe respiratory insufficiency, secondary to rib cage malformations. Due to the extremely low prevalence of the severe forms of hypophosphatasia, its clinical variability and overlapping phenotypic features with several more prevalent conditions, the diagnosis of hypophosphatasia in the clinical setting is challenging. However, its potential lethality and impact on the patient's quality of life, along with the recent availability of an enzyme replacement therapy, increases the relevance of the early and accurate identification of patients affected with hypophosphatasia. On the basis of published evidence and clinical experience, this article suggests an algorithm with practical recommendations for the differential diagnosis of childhood hypophosphatasia, as well as an updated review of current therapeutic options. Copyright © 2017. Publicado por Elsevier España, S.L.U.

  20. Clinical and diagnostic aspects of gluten related disorders.

    PubMed

    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.

  1. Serum free light chains in clinical laboratory diagnostics.

    PubMed

    Jenner, Ellen

    2014-01-01

    Monoclonal free light chains (FLCs) are important disease biomarkers in patients with plasma cell-proliferative disorders. The increasing evidence for clonal diversity and evolution in multiple myeloma highlights the importance of laboratory algorithms that measure both intact immunoglobulins and monoclonal FLCs, at diagnosis and when monitoring response to treatment. A particular focus in the field has been on the utility of serum FLC (sFLC) assays to replace urine electrophoresis for monoclonal FLC measurement. Due to the limited sensitivity and practical constraints of urine analysis, a serum-based algorithm of SPE and sFLC has been adopted by many laboratories as a first line screen in patients with suspected monoclonal gammopathies. This review will discuss the data supporting the use of this simple serum-based algorithm at initial diagnosis, including its utility for the rapid identification of monoclonal FLC in the setting of unexplained acute kidney injury, and provide a comprehensive review of the diagnostic sensitivity of sFLC in patients with multiple myeloma, AL amyloidosis and light chain deposition disease.

  2. Regulation of in vitro diagnostics (IVDs) for use in clinical diagnostic laboratories: towards the light or dark in clinical laboratory testing?

    PubMed

    Favaloro, Emmanuel J; Plebani, Mario; Lippi, Giuseppe

    2011-08-30

    A revised framework for the regulation of in vitro diagnostic devices (IVDs) came into force in Australia on July 1, 2010 that aims to 'ensure that public and personal health are adequately protected', but which instead may lead to adverse outcomes in clinical diagnosis and management. The regulatory process aims to regulate all IVDs, including those used by clinical diagnostic laboratories, which are already subject to scrutiny as part of the current laboratory accreditation process. The IVD regulatory process initiated in Australia is similar to that used in Canada, but different to that currently operating in the USA and Europe. However, it is feasible that other countries will in time adopt a similar regulatory framework, given that many countries are involved in the development process. In this opinion paper, the regulatory process for IVDs across several geographies are outlined, as are some benefits and weaknesses of the new regulatory process now applied to Australia, as potentially planned for other regions of the world.

  3. Unconventional microfluidics: expanding the discipline.

    PubMed

    Nawaz, Ahmad Ahsan; Mao, Xiaole; Stratton, Zackary S; Huang, Tony Jun

    2013-04-21

    Since its inception, the discipline of microfluidics has been harnessed for innovations in the biomedicine/chemistry fields-and to great effect. This success has had the natural side-effect of stereotyping microfluidics as a platform for medical diagnostics and miniaturized lab processes. But microfluidics has more to offer. And very recently, some researchers have successfully applied microfluidics to fields outside its traditional domains. In this Focus article, we highlight notable examples of such "unconventional" microfluidics applications (e.g., robotics, electronics). It is our hope that these early successes in unconventional microfluidics prompt further creativity, and inspire readers to expand the microfluidics discipline.

  4. Unconventional microfluidics: expanding the discipline

    PubMed Central

    Nawaz, Ahmad Ahsan; Mao, Xiaole; Stratton, Zackary S.; Huang, Tony Jun

    2014-01-01

    Since its inception, the discipline of microfluidics has been harnessed for innovations in the biomedicine/chemistry fields—and to great effect. This success has had the natural side-effect of stereotyping microfluidics as a platform for medical diagnostics and miniaturized lab processes. But microfluidics has more to offer. And very recently, some researchers have successfully applied microfluidics to fields outside its traditional domains. In this Focus article, we highlight notable examples of such “unconventional” microfluidics applications (e.g., robotics, electronics). It is our hope that these early successes in unconventional microfluidics prompt further creativity, and inspire readers to expand the microfluidics discipline. PMID:23478651

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

    NASA Astrophysics Data System (ADS)

    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.

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

    PubMed

    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.

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

    PubMed Central

    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

  8. Swallow Syncope: Clinical Presentation, Diagnostic Criteria, and Therapeutic Options

    PubMed Central

    Garg, Shashank; Girotra, Mohit; Glasser, Stephen; Dutta, Sudhir K.

    2014-01-01

    We recently encountered three patients with episodes of syncope associated with food ingestion. A 31-year-old woman had an episode of syncope in the hospital while drinking soda. Transient asystole was noted on the telemonitor, confirming the diagnosis of swallow syncope. The other two patients were 78- and 80 year old gentlemen, respectively, who presented with recurrent and transient episodes of dizziness during deglutition. Extensive work-up of syncope was negative in both cases and a diagnosis of swallow syncope was made by clinical criteria. These cases illustrate the challenging problem of swallow syncope. The diagnosis can be suspected on the basis of clinical presentation and confirmed with the demonstration of transient brady-arrhythmia during deglutition. Medical management includes avoiding trigger foods, use of anticholinergics, and/or placement of a permanent cardiac pacemaker. PMID:25038205

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

    PubMed

    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.

  10. [Parkinsonian disorders: from clinical manifestations to diagnostic classification].

    PubMed

    Bourdain, F; Tir, M; Trocello, J-M

    2013-09-01

    Parkinsonism may include atypical clinical manifestations, which are warning signs for the clinicians and motivate further investigations to identify an etiology other than idiopathic Parkinson's disease. The dismemberment of pathological entities, the advances of morphological and functional imaging of the brain, and new insights into molecular biology have successively led to more precise clinical phenotype and mechanisms. Except for etiologies with specific treatment, such as Wilson's disease or Parkinsonism secondary to a lesion of basal ganglia, or the discontinuation of a culprit drug, the treatment of Parkinsonian syndrome is mainly based on a multidisciplinary approach, involving occupational therapist, physiotherapist, speech therapist, psychologist and social worker. L-Dopa may be tried but it is less effective in atypical Parkinsonian syndrome than in Parkinson's disease. Formal diagnosis, only achievable post-mortem, is not available during the lifetime of the patient. Although some additional tests provide undeniable assistance, the clinical approach remains an essential and critical step to avoid costly and unnecessary investigations. Copyright © 2012 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

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

    PubMed

    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.

  12. Diagnostic Accuracy of Clinical Examination and Imaging Findings for Identifying Subacromial Pain

    PubMed Central

    2016-01-01

    Background The diagnosis of subacromial pathology is limited by the poor accuracy of clinical tests for specific pathologies. The aim of this study was to estimate the diagnostic accuracy of clinical examination and imaging features for identifying subacromial pain (SAP) defined by a positive response to diagnostic injection, and to evaluate the influence of imaging findings on the clinical diagnosis of SAP. Methods and Findings In a prospective, diagnostic accuracy design, 208 consecutive patients presenting to their primary healthcare practitioner for the first time with a new episode of shoulder pain were recruited. All participants underwent a standardized clinical examination, shoulder x-ray series and diagnostic ultrasound scan. Results were compared with the response to a diagnostic block of xylocaineTM injected into the SAB under ultrasound guidance using ≥80% post-injection reduction in pain intensity as the positive anaesthetic response (PAR) criterion. Diagnostic accuracy statistics were calculated for combinations of clinical and imaging variables demonstrating the highest likelihood of a PAR. A PAR was reported by 34% of participants. In participants with no loss of passive external rotation, combinations of three clinical variables (anterior shoulder pain, strain injury, absence of symptoms at end-range external rotation (in abduction)) demonstrated 100% specificity for a PAR when all three were positive (LR+ infinity; 95%CI 2.9, infinity). A full-thickness supraspinatus tear on ultrasound increased the likelihood of a PAR irrespective of age (specificity 98% (95%CI 94, 100); LR+ 6.2; 95% CI 1.5, 25.7)). Imaging did not improve the ability to rule-out a PAR. Conclusion Combinations of clinical examination findings and a full-thickness supraspinatus tear on ultrasound scan can help confirm, but not exclude, the presence of subacromial pain. Other imaging findings were of limited value for diagnosing SAP. PMID:27936246

  13. Clinics in diagnostic imaging (162). Meckel’s diverticulum

    PubMed Central

    Singh, Dinesh R; Pulickal, Geoiphy G; Lo, Zhiwen J; Peh, Wilfred CG

    2015-01-01

    A 28-year-old Chinese man presented with acute bleeding per rectum. Computed tomography showed a posterior outpouching arising from the distal ileum. The outpouching had hyperaemic walls, but no active contrast extravasation was detected. Technetium-99m pertechnetate scintigraphy showed focal areas of abnormal uptake in the right side of the pelvis, superior and posterior to the urinary bladder. These areas of uptake appeared simultaneously with the gastric uptake and demonstrated gradual increase in intensity on subsequent images. The diagnosis of Meckel’s diverticulum was confirmed on surgery and the lesion was resected. The clinical and imaging features of Meckel’s diverticulum are discussed. PMID:26451056

  14. Towards a Role for Clinical Pathology Diagnostics for Childhood Maltreatment

    PubMed Central

    Bearer, EL; Ji, J; Trickett, P; Kaplan, CD; Mennen, F

    2015-01-01

    Recent reports from the Center for Disease Control and Kaiser Permanente demonstrate that early life adverse experience leads to morbidity and mortality in adulthood. To date there are no objective tests that help care-givers or local child protective services make informed decisions for children with a history of abuse, neglect or trauma. This is the first report from a new group of trans-disciplinary investigators describing a new approach to identify the biological impact of childhood maltreatment using clinical pathology testing. Such new quantitative measurements will be useful to identify children at risk for poor mental and physical health outcomes and to follow response to interventions. PMID:26640822

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

    PubMed

    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.

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

    PubMed

    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.

  17. Considerations for Implementation of Cancer Molecular Diagnostics Into Clinical Care.

    PubMed

    Hayes, Daniel F

    2016-01-01

    Physicians have provided personalized care with as much precision as possible for several centuries. However, increasingly sophisticated understanding of the human genome and of cancer biology has permitted identification of genetic and phenotypic distinctions that might permit development of new tumor biomarker tests for risk categorization, screening, differential diagnosis, prognosis, prediction, and monitoring. Both commercial and academic laboratories are offering tests for single analytes, panels of tests of single analytes, multiparameter assays coalesced into a signature, and total genomic, transcriptomic, or proteomic analyses. However, the absence of a consistent regulatory environment has led to marketing of assays without proven analytic validity or clinical utility. U.S. Food and Drug Administration (FDA) approval or clearance does not necessarily imply that use of the test will improve patient outcomes, and FDA discretion to permit laboratory-developed tests results in unknown benefit, or harm, of others. In this regard, a "bad tumor marker is as bad as a bad drug." Caveat emptor is not a satisfactory approach to delivering high-quality care. Rather, adoption of tumor biomarker tests should be based on high levels of evidence generated in scientifically rigorous studies that demonstrate both analytical validity and clinical utility. Doing so will ensure that clinicians and patients are confident that a tumor biomarker test is likely to improve their outcomes.

  18. The biasing effect of clinical history on physical examination diagnostic accuracy.

    PubMed

    Sibbald, Matthew; Cavalcanti, Rodrigo B

    2011-08-01

    Literature on diagnostic test interpretation has shown that access to clinical history can both enhance diagnostic accuracy and increase diagnostic error. Knowledge of clinical history has also been shown to enhance the more complex cognitive task of physical examination diagnosis, possibly by enabling early hypothesis generation. However, it is unclear whether clinicians adhere to these early hypotheses in the face of unexpected physical findings, thus resulting in diagnostic error. A sample of 180 internal medicine residents received a short clinical history and conducted a cardiac physical examination on a high-fidelity simulator. Resident Doctors (Residents) were randomised to three groups based on the physical findings in the simulator. The concordant group received physical examination findings consistent with the diagnosis that was most probable based on the clinical history. Discordant groups received findings associated with plausible alternative diagnoses which either lacked expected findings (indistinct discordant) or contained unexpected findings (distinct discordant). Physical examination diagnostic accuracy and physical examination findings were analysed. Physical examination diagnostic accuracy varied significantly among groups (75 ± 44%, 2 ± 13% and 31 ± 47% in the concordant, indistinct discordant and distinct discordant groups, respectively (F(2,177)  = 53, p < 0.0001). Of the 115 Residents who were diagnostically unsuccessful, 33% adhered to their original incorrect hypotheses. Residents verbalised an average of 12 findings (interquartile range: 10-14); 58 ± 17% were correct and the percentage of correct findings was similar in all three groups (p = 0.44). Residents showed substantially decreased diagnostic accuracy when faced with discordant physical findings. The majority of trainees given discordant physical findings rejected their initial hypotheses, but were still diagnostically unsuccessful. These results

  19. [The directions and experiences of integration of clinical laboratory diagnostic and branch medicine].

    PubMed

    Emanuel', Iu V; Trofimov, V I; Filippova, N A; Emanuel', V L

    2013-03-01

    The article considers the actual issues of teaching laboratory medicine to students of medical faculty and to physicians getting trained in different programs of postgraduate education. The major models of interaction between clinical physicians and specialists of laboratory diagnostic are considered. The proposed model of teaching of laboratory medicine is developed in collaboration with clinical chairs and is based on the principle of "clinical laboratory council of physicians". The analysis of clinical cases of specific patients and clinical analytical critiques are in the basement of the given system. The algorithm of considering one of situation tasks used in teaching is presented as example.

  20. [Depersonalisation/derealization - clinical picture, diagnostics and therapy].

    PubMed

    Michal, Matthias; Beutel, Manfred E

    2009-01-01

    The present state of knowledge about depersonalization (DP) and derealization (DR) is reviewed with respect to classification, epidemiology, etiology, and therapy. Mild and transient DP-DR are considered to be common phenomena. The prevalence of depersonalization-derealization disorder (DP-DR-D) is estimated to be approx. 1-2% of the general population in the Western hemisphere. DP-DR-D is probably severely underdiagnosed. DP-DR-D is strongly associated with depression and anxiety disorders. It is suggested that symptoms of DP-DR indicate disease severity and negatively predict therapy outcome. Neurobiological and psychological models have shown that a disordered body schema and emotional and autonomic blunting are essential components of the disorder. Despite the frequency of DPDR and its clinical relevance, there is a considerable lack of empirical research on DP-DR with respect to the health-care situation of depersonalized patients and with regard to treatment options.

  1. Diagnostic Assessment of Osteosarcoma Chemoresistance Based on Virtual Clinical Trials

    PubMed Central

    Rejniak, K.A.; Lloyd, M.C.; Reed, D.R.; Bui, M.M.

    2015-01-01

    Osteosarcoma is the most common primary bone tumor in pediatric and young adult patients. Successful treatment of osteosarcomas requires a combination of surgical resection and systemic chemotherapy, both neoadjuvant (prior to surgery) and adjuvant (after surgery). The degree of necrosis following neoadjuvant chemotherapy correlates with the subsequent probability of disease-free survival. Tumors with less than 10% of viable cells after treatment represent patients with a more favorable prognosis. However, being able to predict early, such as at the time of the pre-treatment tumor biopsy, how the patient will respond to the standard chemotherapy would provide an opportunity for more personalized patient care. Patients with unfavorable predictions could be studied in a protocol, rather than a standard setting, towards improving therapeutic success. The onset of necrotic cells in osteosarcomas treated with chemotherapeutic agents is a measure of tumor sensitivity to the drugs. We hypothesize that the remaining viable cells, i.e., cells that have not responded to the treatment, are chemoresistant, and that the pathological characteristics of these chemoresistant tumor cells within the osteosarcoma pre-treatment biopsy can predict tumor response to the standard-of-care chemotherapeutic treatment. This hypothesis can be tested by comparing patient histopathology samples before, as well as after treatment to identify both morphological and immunochemical cellular features that are characteristic of chemoresistant cells, i.e., cells that survived treatment. Consequently, using computational simulations of dynamic changes in tumor pathology under the simulated standard of care chemotherapeutic treatment, one can couple the pre- and post-treatment morphological and spatial patterns of chemoresistant cells, and correlate them with patient clinical diagnoses. This procedure, that we named ‘Virtual Clinical Trials’, can serve as a potential predictive biomarker providing a

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

    PubMed

    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.

  3. Development and clinical evaluation of a rapid diagnostic kit for feline leukemia virus infection.

    PubMed

    Kim, Won-Shik; Chong, Chom-Kyu; Kim, Hak-Yong; Lee, Gyu-Cheol; Jeong, Wooseog; An, Dong-Jun; Jeoung, Hye-Young; Lee, Jae-In; Lee, Young-Ki

    2014-01-01

    Feline leukemia virus (FeLV) causes a range of neoplastic and degenerative diseases in cats. To obtain a more sensitive and convenient diagnosis of the disease, we prepared monoclonal antibodies specific for the FeLV p27 to develop a rapid diagnostic test with enhanced sensitivity and specificity. Among these antibodies, we identified two clones (hybridomas 8F8B5 and 8G7D1) that specifically bound to FeLV and were very suitable for a diagnostic kit. The affinity constants for 8F8B5 and 8G7D1 were 0.35 × 10⁸ and 0.86 × 10⁸, respectively. To investigate the diagnostic abilities of the rapid kit using these antibodies, we performed several clinical studies. Assessment of analytical sensitivity revealed that the detection threshold of the rapid diagnostic test was 2 ng/mL for recombinant p27 and 12.5 × 10⁴ IU/mL for FeLV. When evaluating 252 cat sera samples, the kit was found to have a kappa value of 0.88 compared to polymerase chain reaction (PCR), indicating a significant correlation between data from the rapid diagnostic test and PCR. Sensitivity and specificity of the kit were 95.2% (20/21) and 98.5% (257/261), respectively. Our results demonstrated that the rapid diagnostic test would be a suitable diagnostic tool for the rapid detection of FeLV infection in cats.

  4. [Hysteroscopy clinic: diagnostic and therapeutic method in abnormal uterine bleeding].

    PubMed

    Alanis Fuentes, José; Obregón Zegarra, Eva Haydee

    2012-12-01

    Abnormal uterine bleeding is a public health problem prevalence exceeded only by abnormal vaginal discharge as a reason for medical consultation. To describe the findings reported by the Hysteroscopy clinic of the Hospital GEA Gonzalez on patients with Abnormal Uterine bleeding diagnosis. Retrospective, transversal, descriptive study. The total 2546 records of those patient that were evaluated by Office Hysteroscopic between January 2007 and December 2008 on the Hysteroscopy Clinic of Hospital Manuel GEA Gonzalez, then we selected the 1482 records of those patients that were sended because of an Abnormal Uterine bleeding condition. We descrive the frequencies of the diagnosis and its interrelation with the age of the patients. We also report the therapeutical interventions during office hysteroscopy. The mean age of the patients was 42.15 +/- 9.30 years (from 12 a 92 years); the age groups of patients that belonged to 40-44 years and 45-49 years are the most frequent patient and they represent the 25% y el 23.3% of the records. The abnormal findings occurred on the 66% de of the patients. Those patients of 65 years old and older do not have any report of normal cavities, all of then have abnormal findings. The leiomyoma (26.9%) and the endometrial polyps (27.3%) were the most frequent findings. The postmenopausal bleeding had a rate of 90.9% abnormal findings and in this group of patients the most frequent diagnosis was atrophic endometrium (32.2%) and polyps (24.3%). Besides that the office hysteroscopy show its therapeutical usefulness because of the 67% and 77.5% of polipectomy perform for endometrial and cervical polyps respectively The office Hysteroscopy is a well tolerated diagnosis and therapeutic method that is useful for any women with abnormal uterine bleeding condition and it is the ideal technique for the examination of abnormal uterine bleeding in postmenopausal women... The office hysteroscopy is a efficient cost-effective and cost-benefic method for

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

    PubMed

    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.

  6. [Beta-thalassemias: molecular, epidemiological, diagnostical and clinical aspects].

    PubMed

    Joly, Philippe; Pondarre, Corinne; Badens, Catherine

    2014-01-01

    Beta-thalassemia is one of most common autosomal recessive disorders worldwide. In France, 5 to 10 new major or intermedia forms are diagnosed annually and the global prevalence is about 500 cases. Since 20 years and thanks to the generalization of iron chelator treatments, the life expectancy has dramatically increased. Nearly 90% of the β-thalassemic alleles are point mutations easily identified by Sanger sequencing or dedicated methods. The remaining 10% are deletions detectable by MLPA or CGH Array. The alpha-globin genotype is also essential in the exploration of beta-thalassemia because an alpha-thalassemia improves the clinical state whereas an alpha triplication worsens it. The additional genotyping of a few HbF inducer polymorphisms allows to predict the age of the first transfusion, thanks to a recent dedicated algorithm, making beta-thalassemia one of the first potential application of predictive medicine. Gene therapy, pre-implantatory diagnosis and new drugs (Sotatercept®, hepcidin-like molecules) have also recently contributed to make beta-thalassemia a main scientific topic again.

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

    PubMed

    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.

  8. The clinical benefits, ethics, and economics of stratified medicine and companion diagnostics.

    PubMed

    Trusheim, Mark R; Berndt, Ernst R

    2015-12-01

    The stratified medicine companion diagnostic (CDx) cut-off decision integrates scientific, clinical, ethical, and commercial considerations, and determines its value to developers, providers, payers, and patients. Competition already sharpens these issues in oncology, and might soon do the same for emerging stratified medicines in autoimmune, cardiovascular, neurodegenerative, respiratory, and other conditions. Of 53 oncology targets with a launched therapeutic, 44 have competing therapeutics. Only 12 of 141 Phase III candidates addressing new targets face no competition. CDx choices might alter competitive positions and reimbursement. Under current diagnostic incentives, payers see novel stratified medicines that improve public health and increase costs, but do not observe companion diagnostics for legacy treatments that would reduce costs. It would be in the interests of payers to rediscover their heritage of direct investment in diagnostic development. Copyright © 2015 Elsevier Ltd. All rights reserved.

  9. New tools for rapid clinical and bioagent diagnostics: microwaves and plasmonic nanostructures.

    PubMed

    Aslan, Kadir; Geddes, Chris D

    2008-11-01

    In this timely review, we summarize recent work on ultra-fast and sensitive bioassays based on microwave heating, and provide our current interpretation of the role of the combined use of microwave energy and plasmonic nanostructures for applications in rapid clinical and bioagent diagnostics. The incorporation of microwave heating into plasmonic nanostructure-based bioassays brings new advancements to diagnostic tests. A temperature gradient, created by the selective heating of water in the presence of plasmonic nanostructures, results in an increased mass transfer of target biomolecules towards the biorecognition partners placed on the plasmonic nanostructures, enabling diagnostic tests to be completed in less than a minute, and in some cases only a few seconds, by further microwave heating. The diagnostic tests can also be run in complex biological samples, such as human serum and whole blood.

  10. [Analysis of effects of pharmacotherapy on certain parameters of clinical laboratory diagnostics].

    PubMed

    Rostova, N B; Iakovlev, I B; Soloninina, A V

    2014-01-01

    To study effects of pharmaceutical products on the results of clinical and laboratory diagnostics. The list of vitally important pharmaceuticals, clinico-pharmacological articles of the National registry of medicinal products, formulary articles from the Federal guidelines on the use of pharmaceutical products. Formulary system, instructions for use of individual pharmaceutical products. Systemic and information-based approaches, logical and comparative analysis were used throughout the study. Results of analysis enabled the authors to draw up separate lists of pharmaceuticals based on their influence on parameters of clinical laboratory diagnostics, such as the list of pharmaceuticals exerting marked effect on diagnostic characteristics (blood properties, primary and coagulative hemostasis, serum enzymes), the list of pharmaceuticals exerting marked effect on systematized laboratory characteristics; the list of pharmaceuticals exerting no effect on clinical and laboratory diagnostics; the list of pharmaceuticals whose effect on diagnostic characteristics awaits clarification. The results of the study can be used for the development of recommendations on pharmaceutical counseling and rational choice of pharmaceutical products being prescribed to concrete patients.

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

    PubMed

    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.

  12. Current and proposed molecular diagnostics in a genitourinary service line laboratory at a tertiary clinical institution.

    PubMed

    Udager, Aaron M; Alva, Ajjai; Mehra, Rohit

    2014-01-01

    The idea that detailed knowledge of molecular oncogenesis will drive diagnostic, prognostic, and therapeutic clinical decision making in an increasingly multidisciplinary practice of oncologic care has been anticipated for many years. With the recent rapid advancement in our understanding of the molecular underpinnings of genitourinary malignancies, this concept is now starting to take shape in the fields of prostate, kidney, bladder, testicular, and penile cancer. Such breakthroughs necessitate the development of robust clinical-grade assays that can be quickly made available for patients to facilitate diagnosis in challenging cases, risk-stratify patients for subsequent clinical management, select the appropriate targeted therapy from among increasingly diverse and numerous options, and enroll patients in advanced clinical trials. This rapid translation of basic and clinical cancer research requires a streamlined, multidisciplinary approach to clinical assay development, termed here the molecular diagnostics service line laboratory. In this review, we summarize the current state and explore the future of molecular diagnostics in genitourinary oncology to conceptualize a genitourinary service line laboratory at a tertiary clinical institution.

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

    PubMed Central

    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

  14. Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation.

    PubMed

    Van Scherpenzeel, Monique; Willems, Esther; Lefeber, Dirk J

    2016-06-01

    Abnormal protein glycosylation is observed in many common disorders like cancer, inflammation, Alzheimer's disease and diabetes. However, the actual use of this information in clinical diagnostics is still very limited. Information is usually derived from analysis of total serum N-glycan profiling methods, whereas the current use of glycoprotein biomarkers in the clinical setting is commonly based on protein levels. It can be envisioned that combining protein levels and their glycan isoforms would increase specificity for early diagnosis and therapy monitoring. To establish diagnostic assays, based on the mass spectrometric analysis of protein-specific glycosylation abnormalities, still many technical improvements have to be made. In addition, clinical validation is equally important as well as an understanding of the genetic and environmental factors that determine the protein-specific glycosylation abnormalities. Important lessons can be learned from the group of monogenic disorders in the glycosylation pathway, the Congenital Disorders of Glycosylation (CDG). Now that more and more genetic defects are being unraveled, we start to learn how genetic factors influence glycomics profiles of individual and total serum proteins. Although only in its initial stages, such studies suggest the importance to establish diagnostic assays for protein-specific glycosylation profiling, and the need to look beyond the single glycoprotein diagnostic test. Here, we review progress in and lessons from genetic disease, and review the increasing opportunities of mass spectrometry to analyze protein glycosylation in the clinical diagnostic setting. Furthermore, we will discuss the possibilities to expand current CDG diagnostics and how this can be used to approach glycoprotein biomarkers for more common diseases.

  15. Outbreak!: Teaching Clinical and Diagnostic Microbiology Methodologies with an Interactive Online Game

    ERIC Educational Resources Information Center

    Clark, Sherri; Smith, Geoffrey Battle

    2004-01-01

    Outbreak! is an online, interactive educational game that helps students and teachers learn and evaluate clinical microbiology skills. When the game was used in introductory microbiology laboratories, qualitative evaluation by students showed very positive responses and increased learning. Outbreak! allows students to design diagnostic tests and…

  16. Use of the Autism Diagnostic Observation Schedule (ADOS) in a Clinical Setting

    ERIC Educational Resources Information Center

    Molloy, Cynthia A.; Murray, Donna S.; Akers, Rachel; Mitchell, Terry; Manning-Courtney, Patricia

    2011-01-01

    The aim of this study was to examine the Autism Diagnostic Observation Schedule (ADOS) as it is commonly used in clinical practice. ADOS classifications were compared to final diagnoses given by a multidisciplinary team to 584 children referred for evaluation for possible autism spectrum disorder (ASD) at the Cincinnati Children's Hospital Medical…

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

    PubMed Central

    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

  18. Outbreak!: Teaching Clinical and Diagnostic Microbiology Methodologies with an Interactive Online Game

    ERIC Educational Resources Information Center

    Clark, Sherri; Smith, Geoffrey Battle

    2004-01-01

    Outbreak! is an online, interactive educational game that helps students and teachers learn and evaluate clinical microbiology skills. When the game was used in introductory microbiology laboratories, qualitative evaluation by students showed very positive responses and increased learning. Outbreak! allows students to design diagnostic tests and…

  19. Diagnostic potential of optical coherence tomography in non-melanoma skin cancer: a clinical study

    NASA Astrophysics Data System (ADS)

    Mogensen, Mette; Thrane, Lars; Jørgensen, Thomas Martini; Jemec, Gregor B. E.

    2007-07-01

    Introduction: Non-melanoma skin cancer (NMSC) is the most prevalent cancer in the Western World. OCT has proved potential in assisting clinical diagnosis and perhaps reducing the need for biopsies in NMSC. As non-invasive treatment is increasingly used for NMSC patients with superficial lesions, the development of non-invasive diagnostic technologies is highly relevant. Methods: The aim of this cross-sectional clinical study, enrolling 100 NMSC patients and 20 healthy volunteers, is to investigate the diagnostic accuracy and applicability of OCT in NMSC diagnosis. Our OCT-system has been developed at Risoe National Laboratory, Denmark and offers ppolarization sensitive-OCT (PS-OCT) that may have additional advantaged as NMSC differ in content of birefringent collagens from normal skin. Results: Basal cell carcinomas (BCC) can in some cases be distinguished from normal skin in OCT-images, as normal skin exhibits a layered structure this layering is not present in BCC and sometimes not in actinic keratosis (AK). BCC lesions seem to be clearly less reflective than normal tissue. The predictive value of OCT in NMSC will be presented from a clinical point of view. Discussion: The earlier a skin cancer is diagnosed, the better the prognosis. Estimation of diagnostic accuracy and abilities of OCT in clinical studies of skin cancer patients is essential to establish the role and future set-ups for diagnostic OCT-systems.

  20. Significant roadblocks exist in developing sputum sample libraries for clinical validation of novel in vitro diagnostics

    PubMed Central

    Dollow, Joshua M; Green, Justin A

    2014-01-01

    With the continuing rise of multiresistant pathogens, reliable, cost-effective, and novel diagnostics are urgently required by clinicians and clinical trialists to diagnose conditions such as respiratory tract infections to enable rational antimicrobial choice and enhance clinical outcomes. However, during product development, validation of these in vitro diagnostic devices, a key regulatory hurdle, requires sputum samples in large numbers. The Rapid Point-of-Care test Platform for Infectious Diseases (RAPP-ID) consortium is tasked with producing point of care test (POCT) platforms for rapid diagnosis of lower respiratory tract infections, including tuberculosis and blood stream infections. Validation of diagnostic platforms would ideally use well-characterized samples in a sputum library taken from a range of clinical settings to allow for a wide panel of pathogens to be assessed. These samples would be stored in specific stable conditions (monitored temperature, specific medium) until required for validation. Therefore we reviewed the current literature for details of storage conditions of sputum samples and for previous validation studies of other diagnostic tests using this methodology. However, we conclude that little data exists, and thus the acquisition and successful storage of good quality clinical samples are major roadblocks in the validation of novel POCT platforms, and that while not without limitations, spiked sputum samples appear the best solution until sputum library laboratory techniques allowing careful preservation of pathogens are improved. PMID:24489460

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

    ERIC Educational Resources Information Center

    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…

  2. Impact of Crop Management Diagnostic Clinics on Advisors' Recommendations and Producer Practices

    ERIC Educational Resources Information Center

    Wortmann, Charles S.; Glewen, Keith L.; Williams, Susan N.

    2011-01-01

    Adoption resulting from University of Nebraska-Lincoln Crop Management Diagnostic Clinic (CMDC) field days was evaluated using an on-line survey. Respondents reported significant gains in skills because of CMDC, but the gains were similar across skill areas. Adoption was affected by compatibility with the cropping system, relative advantage,…

  3. Impact of Crop Management Diagnostic Clinics on Advisors' Recommendations and Producer Practices

    ERIC Educational Resources Information Center

    Wortmann, Charles S.; Glewen, Keith L.; Williams, Susan N.

    2011-01-01

    Adoption resulting from University of Nebraska-Lincoln Crop Management Diagnostic Clinic (CMDC) field days was evaluated using an on-line survey. Respondents reported significant gains in skills because of CMDC, but the gains were similar across skill areas. Adoption was affected by compatibility with the cropping system, relative advantage,…

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

    PubMed

    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.

  5. Synergies and distinctions between computational disciplines in biomedical research: perspective from the Clinical andTranslational Science Award programs.

    PubMed

    Bernstam, Elmer V; Hersh, William R; Johnson, Stephen B; Chute, Christopher G; Nguyen, Hien; Sim, Ida; Nahm, Meredith; Weiner, Mark G; Miller, Perry; DiLaura, Robert P; Overcash, Marc; Lehmann, Harold P; Eichmann, David; Athey, Brian D; Scheuermann, Richard H; Anderson, Nick; Starren, Justin; Harris, Paul A; Smith, Jack W; Barbour, Ed; Silverstein, Jonathan C; Krusch, David A; Nagarajan, Rakesh; Becich, Michael J

    2009-07-01

    Clinical and translational research increasingly requires computation. Projects may involve multiple computationally oriented groups including information technology (IT) professionals, computer scientists, and biomedical informaticians. However, many biomedical researchers are not aware of the distinctions among these complementary groups, leading to confusion, delays, and suboptimal results. Although written from the perspective of Clinical and Translational Science Award (CTSA) programs within academic medical centers, this article addresses issues that extend beyond clinical and translational research. The authors describe the complementary but distinct roles of operational IT, research IT, computer science, and biomedical informatics using a clinical data warehouse as a running example. In general, IT professionals focus on technology. The authors distinguish between two types of IT groups within academic medical centers: central or administrative IT (supporting the administrative computing needs of large organizations) and research IT (supporting the computing needs of researchers). Computer scientists focus on general issues of computation such as designing faster computers or more efficient algorithms, rather than specific applications. In contrast, informaticians are concerned with data, information, and knowledge. Biomedical informaticians draw on a variety of tools, including but not limited to computers, to solve information problems in health care and biomedicine. The paper concludes with recommendations regarding administrative structures that can help to maximize the benefit of computation to biomedical research within academic health centers.

  6. Synergies and Distinctions between Computational Disciplines in Biomedical Research: Perspective from the Clinical and Translational Science Award Programs

    PubMed Central

    Bernstam, Elmer V.; Hersh, William R.; Johnson, Stephen B.; Chute, Christopher G.; Nguyen, Hien; Sim, Ida; Nahm, Meredith; Weiner, Mark; Miller, Perry; DiLaura, Robert P.; Overcash, Marc; Lehmann, Harold P.; Eichmann, David; Athey, Brian D.; Scheuermann, Richard H.; Anderson, Nick; Starren, Justin B.; Harris, Paul A.; Smith, Jack W.; Barbour, Ed; Silverstein, Jonathan C.; Krusch, David A.; Nagarajan, Rakesh; Becich, Michael J.

    2010-01-01

    Clinical and translational research increasingly requires computation. Projects may involve multiple computationally-oriented groups including information technology (IT) professionals, computer scientists and biomedical informaticians. However, many biomedical researchers are not aware of the distinctions among these complementary groups, leading to confusion, delays and sub-optimal results. Although written from the perspective of clinical and translational science award (CTSA) programs within academic medical centers, the paper addresses issues that extend beyond clinical and translational research. The authors describe the complementary but distinct roles of operational IT, research IT, computer science and biomedical informatics using a clinical data warehouse as a running example. In general, IT professionals focus on technology. The authors distinguish between two types of IT groups within academic medical centers: central or administrative IT (supporting the administrative computing needs of large organizations) and research IT (supporting the computing needs of researchers). Computer scientists focus on general issues of computation such as designing faster computers or more efficient algorithms, rather than specific applications. In contrast, informaticians are concerned with data, information and knowledge. Biomedical informaticians draw on a variety of tools, including but not limited to computers, to solve information problems in health care and biomedicine. The paper concludes with recommendations regarding administrative structures that can help to maximize the benefit of computation to biomedical research within academic health centers. PMID:19550198

  7. Writing for the Discipline in the Discipline?

    ERIC Educational Resources Information Center

    Buzzi, Olivier; Grimes, Susan; Rolls, Alistair

    2012-01-01

    This article explores the issue of students' writing skills in the discipline of Engineering and beyond. It is the result of a discussion between three academics from different discipline backgrounds: Teaching and Learning, the Humanities and Engineering. We start with a review of the strategies commonly used to address problems in students'…

  8. Writing for the Discipline in the Discipline?

    ERIC Educational Resources Information Center

    Buzzi, Olivier; Grimes, Susan; Rolls, Alistair

    2012-01-01

    This article explores the issue of students' writing skills in the discipline of Engineering and beyond. It is the result of a discussion between three academics from different discipline backgrounds: Teaching and Learning, the Humanities and Engineering. We start with a review of the strategies commonly used to address problems in students'…

  9. Conceptualization of category-oriented likelihood ratio: a useful tool for clinical diagnostic reasoning

    PubMed Central

    2011-01-01

    Background In the diagnostic reasoning process medical students and novice physicians need to be made aware of the diagnostic values of the clinical findings (including history, signs, and symptoms) to make an appropriate diagnostic decision. Diagnostic reasoning has been understood in light of two paradigms on clinical reasoning: problem solving and decision making. They advocate the reasoning strategies used by expert physicians and the statistical models of reasoning, respectively. Evidence-based medicine (EBM) applies decision theory to the clinical diagnosis, which can be a challenging topic in medical education. This theoretical article tries to compare evidence-based diagnosis with expert-based strategies in clinical diagnosis and also defines a novel concept of category-oriented likelihood ratio (LR) to propose a new model combining both aforementioned methods. Discussion Evidence-based medicine advocates the use of quantitative evidence to estimate the probability of diseases more accurately and objectively; however, the published evidence for a given diagnosis cannot practically be utilized in primary care, especially if the patient is complaining of a nonspecific problem such as abdominal pain that could have a long list of differential diagnoses. In this case, expert physicians examine the key clinical findings that could differentiate between broader categories of diseases such as organic and non-organic disease categories to shorten the list of differential diagnoses. To approach nonspecific problems, not only do the experts revise the probability estimate of specific diseases, but also they revise the probability estimate of the categories of diseases by using the available clinical findings. Summary To make this approach analytical and objective, we need to know how much more likely it is for a key clinical finding to be present in patients with one of the diseases of a specific category versus those with a disease not included in that category. In

  10. Diagnostic accuracies of clinical studies in patients with small cell carcinoma of the lung

    SciTech Connect

    Chak, L.Y.; Paryani, S.B.; Sikic, B.I.; Lockbaum, P.; Torti, F.M.; Carter, S.K.

    1983-05-01

    The diagnostic accuracy of clinical studies done in 38 patients with small cell carcinoma of the lung was analyzed by comparing the test results to autopsy findings. The chest radiograph was accurate in 31 of 38 patients (82%). The accuracy of the chest radiograph was higher in evaluating the lung parenchyma and mediastinum than in evaluating the hilum and pleura. Computerized tomographic brain scan was accurate in 11 of 12 patients. However, all the diagnostic studies used for assessing the liver, including physical examination, serum liver enzyme and bilirubin measurements, and radionuclide liver scan, were only moderately accurate. More accurate studies for detecting liver metastasis in patients with small cell carcinoma are needed.

  11. Prospective roles for Canadian oncology nurses in breast cancer rapid diagnostic clinics.

    PubMed

    Zanchetta, M S; Maheu, C; Baku, L; Wedderburn, P J S; Lemonde, M

    2015-01-01

    The introduction of rapid diagnostic clinics for breast cancer increases oncology nurses' (ONs) responsibility for patient education and coordination of multidisciplinary care. Developed as an outcome of the E-Mentorship Oncology Nursing Program, this paper proposes new roles for these nurses to respond effectively and competently to such diagnostic innovation. The Oslo Manual Conceptual Framework of Innovation inspired the idea of change in prospective ONs' roles, corroborated by the Canadian Association of Nurses in Oncology's Standards of Practice and Competencies. New roles for ONs that are informed by the domain of information dynamics and evidence-based care are proposed.

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

    NASA Astrophysics Data System (ADS)

    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.

  13. Large Gene Panel Sequencing in Clinical Diagnostics - Results from 501 Consecutive Cases.

    PubMed

    Pajusalu, Sander; Kahre, Tiina; Roomere, Hanno; Murumets, Ülle; Roht, Laura; Simenson, Kristi; Reimand, Tiia; Õunap, Katrin

    2017-04-05

    In addition to whole exomes, large gene panels of clinically associated genes are used as high-throughput sequencing tests in many clinical centers, but their clinical utility has been much less investigated. Here we report the results of the 501 first unselected cases for whom TruSight One panel (Illumina Inc.) was sequenced as a clinical diagnostic test for a variety of indications in our department. The analysis was restricted to virtual subpanels based on referral forms, where doctors were asked to list candidate genes or select one from predefined larger panels. A probable or definite pathogenic finding was reported in 26.3% of cases. In 238 samples for whom one to nine genes were requested for analysis, the diagnostic yield was significantly higher compared to other 263 cases for whom larger subpanels were requested (31.5% vs. 21.7% respectively, p = 0.016). Detected mutations included single nucleotide variants, small insertions and deletions, and larger copy number variants. Out of 157 reported mutations, 67 were previously undescribed. The clinical utility of large gene panel sequencing in the context of other genetic diagnostic tests is discussed in detail.

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

    PubMed

    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.

  15. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

    PubMed

    Stavropoulos, Dimitri J; Merico, Daniele; Jobling, Rebekah; Bowdin, Sarah; Monfared, Nasim; Thiruvahindrapuram, Bhooma; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Yuen, Ryan K C; Szego, Michael J; Hayeems, Robin Z; Shaul, Randi Zlotnik; Brudno, Michael; Girdea, Marta; Frey, Brendan; Alipanahi, Babak; Ahmed, Sohnee; Babul-Hirji, Riyana; Porras, Ramses Badilla; Carter, Melissa T; Chad, Lauren; Chaudhry, Ayeshah; Chitayat, David; Doust, Soghra Jougheh; Cytrynbaum, Cheryl; Dupuis, Lucie; Ejaz, Resham; Fishman, Leona; Guerin, Andrea; Hashemi, Bita; Helal, Mayada; Hewson, Stacy; Inbar-Feigenberg, Michal; Kannu, Peter; Karp, Natalya; Kim, Raymond; Kronick, Jonathan; Liston, Eriskay; MacDonald, Heather; Mercimek-Mahmutoglu, Saadet; Mendoza-Londono, Roberto; Nasr, Enas; Nimmo, Graeme; Parkinson, Nicole; Quercia, Nada; Raiman, Julian; Roifman, Maian; Schulze, Andreas; Shugar, Andrea; Shuman, Cheryl; Sinajon, Pierre; Siriwardena, Komudi; Weksberg, Rosanna; Yoon, Grace; Carew, Chris; Erickson, Raith; Leach, Richard A; Klein, Robert; Ray, Peter N; Meyn, M Stephen; Scherer, Stephen W; Cohn, Ronald D; Marshall, Christian R

    2016-01-13

    The standard of care for first-tier clinical investigation of the etiology of congenital malformations and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy number variations (CNVs), often followed by gene(s)-specific sequencing searching for smaller insertion-deletions (indels) and single nucleotide variant (SNV) mutations. Whole genome sequencing (WGS) has the potential to capture all classes of genetic variation in one experiment; however, the diagnostic yield for mutation detection of WGS compared to CMA, and other tests, needs to be established. In a prospective study we utilized WGS and comprehensive medical annotation to assess 100 patients referred to a paediatric genetics service and compared the diagnostic yield versus standard genetic testing. WGS identified genetic variants meeting clinical diagnostic criteria in 34% of cases, representing a 4-fold increase in diagnostic rate over CMA (8%) (p-value = 1.42e-05) alone and >2-fold increase in CMA plus targeted gene sequencing (13%) (p-value = 0.0009). WGS identified all rare clinically significant CNVs that were detected by CMA. In 26 patients, WGS revealed indel and missense mutations presenting in a dominant (63%) or a recessive (37%) manner. We found four subjects with mutations in at least two genes associated with distinct genetic disorders, including two cases harboring a pathogenic CNV and SNV. When considering medically actionable secondary findings in addition to primary WGS findings, 38% of patients would benefit from genetic counseling. Clinical implementation of WGS as a primary test will provide a higher diagnostic yield than conventional genetic testing and potentially reduce the time required to reach a genetic diagnosis.

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

    PubMed

    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.

  17. Adopted Children and Discipline

    MedlinePlus

    ... Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of Families Media Work & Play ... Community Healthy Children > Family Life > Family Dynamics > Adoption & Foster Care > Adopted Children & Discipline Family Life Listen Español Text ...

  18. A clinical audit programme for diagnostic radiology: the approach adopted by the International Atomic Energy Agency.

    PubMed

    Faulkner, K; Järvinen, H; Butler, P; McLean, I D; Pentecost, M; Rickard, M; Abdullah, B

    2010-01-01

    The International Atomic Energy Agency (IAEA) has a mandate to assist member states in areas of human health and particularly in the use of radiation for diagnosis and treatment. Clinical audit is seen as an essential tool to assist in assuring the quality of radiation medicine, particularly in the instance of multidisciplinary audit of diagnostic radiology. Consequently, an external clinical audit programme has been developed by the IAEA to examine the structure and processes existent at a clinical site, with the basic objectives of: (1) improvement in the quality of patient care; (2) promotion of the effective use of resources; (3) enhancement of the provision and organisation of clinical services; (4) further professional education and training. These objectives apply in four general areas of service delivery, namely quality management and infrastructure, patient procedures, technical procedures and education, training and research. In the IAEA approach, the audit process is initiated by a request from the centre seeking the audit. A three-member team, comprising a radiologist, medical physicist and radiographer, subsequently undertakes a 5-d audit visit to the clinical site to perform the audit and write the formal audit report. Preparation for the audit visit is crucial and involves the local clinical centre completing a form, which provides the audit team with information on the clinical centre. While all main aspects of clinical structure and process are examined, particular attention is paid to radiation-related activities as described in the relevant documents such as the IAEA Basic Safety Standards, the Code of Practice for Dosimetry in Diagnostic Radiology and related equipment and quality assurance documentation. It should be stressed, however, that the clinical audit does not have any regulatory function. The main purpose of the IAEA approach to clinical audit is one of promoting quality improvement and learning. This paper describes the background to

  19. The development of the ICD-11 Clinical Descriptions and Diagnostic Guidelines for Mental and Behavioural Disorders

    PubMed Central

    First, Michael B; Reed, Geoffrey M; Hyman, Steven E; Saxena, Shekhar

    2015-01-01

    The World Health Organization is in the process of preparing the eleventh revision of the International Classification of Diseases (ICD-11), scheduled for presentation to the World Health Assembly for approval in 2017. The International Advisory Group for the Revision of the ICD-10 Mental and Behavioural Disorders made improvement in clinical utility an organizing priority for the revision. The uneven nature of the diagnostic information included in the ICD-10 Clinical Descriptions and Diagnostic Guidelines (CDDG), especially with respect to differential diagnosis, is a major shortcoming in terms of its usefulness to clinicians. Consequently, ICD-11 Working Groups were asked to collate diagnostic information about the disorders under their purview using a standardized template (referred to as a “Content Form”). Using the information provided in the Content Forms as source material, the ICD-11 CDDG are being developed with a uniform structure. The effectiveness of this format in producing more consistent clinical judgments in ICD-11 as compared to ICD-10 is currently being tested in a series of Internet-based field studies using standardized case material, and will also be tested in clinical settings. PMID:25655162

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

    PubMed

    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.

  1. Diagnostic Validity of Clinical Signs Associated with a Large Exophoria at Near

    PubMed Central

    Cacho-Martínez, Pilar; García-Muñoz, Ángel; Ruiz-Cantero, María Teresa

    2013-01-01

    Purpose. To analyze the diagnostic validity of accommodative and binocular tests in a sample of patients with a large near exophoria with moderate to severe symptoms. Methods. Two groups of patients between 19 and 35 years were recruited from a university clinic: 33 subjects with large exophoria at near vision and moderate or high visual discomfort and 33 patients with normal heterophoria and low visual discomfort. Visual discomfort was defined using the Conlon survey. A refractive exam and an exhaustive evaluation of accommodation and vergence were assessed. Diagnostic validity by means of receiver operator characteristic (ROC) curves, sensitivity (S), specificity (Sp), and positive and negative likelihood ratios (LR+, LR−) were assessed. This analysis was also carried out considering multiple tests as serial testing strategy. Results. ROC analysis showed the best diagnostic accuracy for receded near point of convergence (NPC) recovery (area = 0.929) and binocular accommodative facility (BAF) (area = 0.886). Using the cut-offs obtained with ROC analysis, the best diagnostic validity was obtained for the combination of NPC recovery and BAF (S  =  0.77, Sp = 1, LR+ = value tending to infinity, LR− = 0.23) and the combination of NPC break and recovery with BAF (S  =  0.73, Sp = 1, LR+ = tending to infinity, LR− = 0.27). Conclusions. NPC and BAF tests were the tests with the best diagnostic accuracy for subjects with large near exophoria and moderate to severe symptoms. PMID:23997945

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

    PubMed Central

    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. Classroom Discipline. Research Roundup.

    ERIC Educational Resources Information Center

    Bielefeldt, Talbot

    1989-01-01

    Recent research in classroom discipline tends to show that discipline is a by-product of effective instruction and classroom management. The five publications reviewed in this annotated bibliography explore aspects of the complex classroom environment that relate to student discipline. Walter Doyle's chapter on "Classroom Organization and…

  4. Diagnostic Accuracy of Behavioral, Activity, Ferritin, and Clinical Indicators of Restless Legs Syndrome

    PubMed Central

    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.

    2015-01-01

    Study Objectives: 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. Design: 3-day, prospective instrument validation. Setting: Sleep laboratory. Participants: Cognitively intact, 107 with RLS, 105 without RLS. Interventions: N/A. Measurements: 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. Results: 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. Conclusions: When compared to those without restless legs syndrome (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 Behavioral Indicators Test–Restless Legs had good diagnostic accuracy. Citation: Richards KC, Bost JE, Rogers VE, Hutchison LC, Beck CK, Bliwise DL, Kovach CR, Cuellar N, Allen RP. Diagnostic accuracy of behavioral, activity, ferritin, and clinical indicators of restless legs syndrome. SLEEP 2015

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

    PubMed

    Kryukov, A I; Garov, E V; Ivoilov, A Yu; 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.

  6. Self-Disorders: Clinical and Conceptual Implications for the Diagnostic Concept of Schizophrenia.

    PubMed

    Parnas, Josef; Jansson, Lennart B

    2015-01-01

    The release of DSM-5 and the preparations for the launch of the ICD-11 provoked a series of critiques of psychiatric classification, which continues to depend largely on clinical description. Among the immediate problems are those of arbitrary diagnostic thresholds, tendency to reification, rigid category boundaries, comorbidity, diagnostic 'epidemics' and differential diagnostic dilemmas. We argue that many of those problems stem from the polythetic-operational definitions of psychiatric categories, which thereby come to lack an organizing prototype-directed or gestaltic intelligibility principle. We illustrate these issues by briefly examining the current operational diagnosis of schizophrenia, its demarcation from affective illness and the status of the spectrum concept and the prodrome of schizophrenia. We point out that European research on schizophrenia always allocated an important diagnostic weight to a certain prototypical trait core of the illness, phenomenologically indispensable for its demarcation from other, nonschizophrenic psychotic conditions. We believe that the notion of self-disorder (reflective of the structural alterations of subjectivity), itemized into its various aspects in the Examination of Anomalous Self-Experience scale, is an important step forward in a more precise psychopathological articulation of that core, strengthening its clinical and research utility.

  7. Diagnostic accuracy of the clinical feeding evaluation in detecting aspiration in children: a systematic review.

    PubMed

    Calvo, Irene; Conway, Aifric; Henriques, Filipa; Walshe, Margaret

    2016-06-01

    The aim of this systematic review is to determine the diagnostic accuracy of clinical feeding evaluation (CFE) compared to instrumental assessments in detecting oropharyngeal aspiration (OPA) in children. This is important to support clinical decision-making and to provide safe, cost-effective, higher quality care. All published and unpublished studies in all languages assessing the diagnostic accuracy of CFE compared to videofluoroscopic swallowing study (VFSS) and/or fibre-optic endoscopic examination of swallowing (FEES) in detecting OPA in paediatric populations were sought. Databases were searched from inception to April 2015. Grey literature, citations, and references were also searched. Two independent reviewers extracted and analysed data. Accuracy estimates were calculated. Research reports were translated into English as required. Six studies examining the diagnostic accuracy of CFE using VFSS and/or FEES were eligible for inclusion. Sample sizes, populations studied, and CFE characteristics varied widely. The overall methodological quality of the studies, assessed with QUADAS-2, was considered 'low'. Results suggested that CFEs trialling liquid consistencies might provide better accuracy estimates than CFEs trialling solids exclusively. This systematic review highlights the critical lack of evidence on the accuracy of CFE in detecting OPA in children. Larger well-designed primary diagnostic test accuracy studies in this area are needed to inform dysphagia assessment in paediatrics. © 2016 Mac Keith Press.

  8. The Diagnostic and Prognostic Value of Neuropsychological Assessment in Memory Clinic Patients.

    PubMed

    Jansen, Willemijn J; Handels, Ron L H; Visser, Pieter Jelle; Aalten, Pauline; Bouwman, Femke; Claassen, Jurgen; van Domburg, Peter; Hoff, Erik; Hoogmoed, Jan; Leentjens, Albert F G; Rikkert, Marcel Olde; Oleksik, Ania M; Smid, Machiel; Scheltens, Philip; Wolfs, Claire; Verhey, Frans; Ramakers, Inez H G B

    2017-01-01

    Neuropsychological testing has long been embedded in daily clinical practice at memory clinics but the added value of a complete neuropsychological assessment (NPA) to standard clinical evaluation is unknown. To evaluate the added diagnostic and prognostic value of NPA to clinical evaluation only in memory clinic patients. In 221 memory clinic patients of a prospective cohort study, clinical experts diagnosed clinical syndrome (subjective cognitive impairment (SCI), mild cognitive impairment (MCI), or dementia) and etiology (Alzheimer's disease (AD) or no AD), and provided a prognosis of disease course (decline or no decline) before and after results of NPA were made available. The reference standard was a panel consensus based on all clinical information at baseline and up to 2 follow-up assessments. With NPA data available, clinicians changed their initial syndromal diagnosis in 22% of patients, and the etiological diagnosis as well as the prognosis in 15%. This led to an increase in correctly classified cases of 18% for syndromal diagnosis, 5% for etiological diagnosis, and 1% for prognosis. NPA data resulted in the largest improvement in patients initially classified as SCI (syndrome: 93.3% (n = 14) correctly reclassified, etiology: net reclassification improvement [NRI] = 0.61, prognosis: NRI = 0.13) or MCI (syndrome: 89.3% (n = 23) correctly reclassified, etiology: NRI = 0.17, prognosis: NRI = 0.14), while there was no improvement in patients with dementia (syndrome: 100% (n = 1) correctly reclassified, etiology: NRI = -0.05, prognosis: NRI = -0.06). Overall, inclusion of NPA in the diagnostic process increased confidence in all diagnoses with 6-7%. Administration of a complete NPA after standard clinical evaluation has added value for diagnosing cognitive syndrome and its underlying etiology in patients regarded as non-demented based on the first clinical impression.

  9. The impact of a faculty development program: evaluation based on the self-assessment of medical educators from preclinical and clinical disciplines.

    PubMed

    Sarikaya, Ozlem; Kalaca, Sibel; Yegen, Berrak C; Cali, Sanda

    2010-06-01

    Self-assessment tools have previously been used to assess the impact of a faculty development program on the teaching skills of medical educators. In this study, we aimed to assess the impact of a faculty development program on the teaching performances of faculty members in relation to their medical disciplines and academic positions. A faculty-training program consisted of "training skills" and "student assessment instruments" courses. The impact of the program was evaluated by self-reporting of faculty members (a total of 225 reports) 1-2 yr after the program. Both courses were found to be beneficial by nearly all of the attendants. Clinicians benefited more from some topics in the student assessment course and could apply the structured learning and assessment guides, structured oral examination, and objective structured clinical examination more efficiently than their peers from preclinical departments. In conclusion, the results demonstrated that the participants of the faculty development program modified their teaching activities according to the demands of their clinical practice. The correlations between the benefits and behavioral changes were statistically significant.

  10. The Diagnostic Validity and Reliability of an Internet-Based Clinical Assessment Program for Mental Disorders

    PubMed Central

    Klein, Britt; Meyer, Denny; Austin, David William; Abbott, Jo-Anne M

    2015-01-01

    Background Internet-based assessment has the potential to assist with the diagnosis of mental health disorders and overcome the barriers associated with traditional services (eg, cost, stigma, distance). Further to existing online screening programs available, there is an opportunity to deliver more comprehensive and accurate diagnostic tools to supplement the assessment and treatment of mental health disorders. Objective The aim was to evaluate the diagnostic criterion validity and test-retest reliability of the electronic Psychological Assessment System (e-PASS), an online, self-report, multidisorder, clinical assessment and referral system. Methods Participants were 616 adults residing in Australia, recruited online, and representing prospective e-PASS users. Following e-PASS completion, 158 participants underwent a telephone-administered structured clinical interview and 39 participants repeated the e-PASS within 25 days of initial completion. Results With structured clinical interview results serving as the gold standard, diagnostic agreement with the e-PASS varied considerably from fair (eg, generalized anxiety disorder: κ=.37) to strong (eg, panic disorder: κ=.62). Although the e-PASS’ sensitivity also varied (0.43-0.86) the specificity was generally high (0.68-1.00). The e-PASS sensitivity generally improved when reducing the e-PASS threshold to a subclinical result. Test-retest reliability ranged from moderate (eg, specific phobia: κ=.54) to substantial (eg, bulimia nervosa: κ=.87). Conclusions The e-PASS produces reliable diagnostic results and performs generally well in excluding mental disorders, although at the expense of sensitivity. For screening purposes, the e-PASS subclinical result generally appears better than a clinical result as a diagnostic indicator. Further development and evaluation is needed to support the use of online diagnostic assessment programs for mental disorders. Trial Registration Australian and New Zealand Clinical Trials

  11. Establishing cross-discipline consensus on contraception, pregnancy and breast feeding-related educational messages and clinical practices to support women with rheumatoid arthritis: an Australian Delphi study

    PubMed Central

    Jordan, Joanne E; Ackerman, Ilana N; Van Doornum, Sharon

    2016-01-01

    Objective Recognising the need for a best-practice and consistent approach in providing care to women with rheumatoid arthritis (RA) in relation to (1) general health, (2) contraception, (3) conception and pregnancy, (4) breast feeding and (5) early parenting, we sought to achieve cross-discipline, clinical consensus on key messages and clinical practice behaviours in these 5 areas. Design 3-round eDelphi study. In round 1, panellists provided free-text responses to open-ended questions about care for women with RA across the 5 areas. Subsequently, panellists refined and scored the synthesised responses, presented as metathemes, themes and detailed elements. Where ≥5% of panellists did not support a theme in a given round, it was removed. Setting Panel of practicing Australian rheumatologists (n=22), obstetricians/obstetric medicine physicians (n=9) and pharmacists (n=5). Results 34 (94.4%) panellists participated in all 3 rounds. The panel supported 18 themes across the 5 areas (support/strongly support: 88.2–100%) underpinned by 5 metathemes. Metathemes focused on coordination in information delivery, the mode and timing of information delivery, evidence underpinning information, engagement of the right health professionals at the right time and a non-judgemental approach to infant feeding. Themes included practices for primary prevention of chronic disease and their sequelae, the importance of contraception and planning pregnancy and breast feeding, close monitoring of medications, supporting mental well-being, managing disease activity and providing practical support for early parenting. Conclusions A cross-disciplinary clinical panel highly supported key information and clinical practices in the care for women with RA across the continuum of contraception to early parenting within a whole-person, chronic disease management approach. PMID:27633637

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

    PubMed Central

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

    2016-01-01

    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. PMID:28074172

  13. New laser sources for clinical treatment and diagnostics of neonatal jaundice

    NASA Astrophysics Data System (ADS)

    Hamza, Mostafa; El-Ahl, Mohammad H. S.; Hamza, Ahmad M.

    2001-06-01

    An elevated serum bilirubin concentration in the newborn infant presents a therapeutic as well as a diagnostic problem to the physician. It has long been recognized that high levels of bilirubin cause irreversible brain damage and even death. The authors introduce the use of semiconductor diode lasers and diode-pumped solid-state lasers that can be used for solving such diagnostic and therapeutic problems. These new laser sources can improve the ergonomics of using laser, enhance performance capabilities and reduce the cost of employing laser energy to pump bilirubin out of an infant's body. The choice of laser wavelengths follows the principles of bilirubinometry and phototherapy of neonatal jaundice. The wide spread use of these new laser sources for clinical monitoring and treatment of neonatal hyperbilirubinemia will be made possible as each incremental or quantum jump cost reduction is achieved. Our leading clinical experience as well as the selection rules of laser wavelengths will be presented.

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

    PubMed

    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.

  15. Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.

    PubMed

    van Haelst, Mieke M; Scambler, Peter J; Hennekam, Raoul C M

    2007-12-15

    Fraser syndrome is an autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. We studied the clinical features in 59 affected individuals from 40 families (25 consanguineous), and compared our findings to data from previous reviews. We found a higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract, and anus in our series of patients, and mental retardation and cleft lip with or without cleft palate were observed less frequently than previously reported. Clinical features in probands and sibs were remarkably similar. As can be expected prenatally diagnosed patients had more manifestations that gave rise to a pathological amount of amniotic fluid. Otherwise patients diagnosed before and after birth had similar frequencies of symptoms. Based on the present results we suggest an adaptation of diagnostic criteria for FS, including adding airway tract and urinary tract anomalies as major criteria. The specificity of the proposed diagnostic criteria was evaluated using the London Medical Database as a search tool.

  16. Adaptive Clinical Trial Designs for Simultaneous Testing of Matched Diagnostics and Therapeutics

    PubMed Central

    Scher, Howard I.; Nasso, Shelley Fuld; Rubin, Eric H.; Simon, Richard

    2013-01-01

    A critical challenge in the development of new molecularly targeted anticancer drugs is the identification of predictive biomarkers and the concurrent development of diagnostics for these biomarkers. Developing matched diagnostics and therapeutics will require new clinical trial designs and methods of data analysis. The use of adaptive design in phase III trials may offer new opportunities for matched diagnosis and treatment because the size of the trial can allow for subpopulation analysis. We present an adaptive phase III trial design that can identify a suitable target population during the early course of the trial, enabling the efficacy of an experimental therapeutic to be evaluated within the target population as a later part of the same trial. The use of such an adaptive approach to clinical trial design has the potential to greatly improve the field of oncology and facilitate the development of personalized medicine. PMID:22046024

  17. [Clinical and imaging diagnostics of Parkinson's disease and multiple system atrophy].

    PubMed

    Schmidt, K I; Spiegel, J; Reith, W

    2011-04-01

    The diagnosis of Parkinson's disease (PD) and multiple system atrophy (MSA) is primarily made by clinical symptoms, but might still remain challenging even for experienced neurologists. Neuroradiologic imaging may be a useful tool in the diagnostic work-up, particularly for excluding other diseases, such as normal pressure hydrocephalus, multi-infarct dementia and cerebellar lesions. Nuclear medicine methods can additionally support the diagnosis and differential diagnosis of PD and MSA.

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

    PubMed

    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.

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

    PubMed

    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.

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

    PubMed

    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.

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

    PubMed

    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.

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

    PubMed

    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.

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

    PubMed

    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.

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

    PubMed Central

    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

  5. The porphyrias: clinic, diagnostics, novel investigative tools and evolving molecular therapeutic strategies.

    PubMed

    van Serooskerken, A-M van Tuyll; Poblete-Gutiérrez, P; Frank, J

    2010-01-01

    The porphyrias are clinically and genetically heterogeneous metabolic disorders resulting from a predominantly hereditary dysfunction of specific enzymes involved in heme biosynthesis. Today, the clinical, biochemical, and genetic characteristics of this fascinating group of diseases are well established. Recently, different in vitro and animal models have facilitated the investigation of etiopathologic mechanisms in the different types of porphyria and the development of causal treatment strategies such as pathway interference, enzyme replacement, and gene therapy. The continuous progress in basic science has made an invaluable contribution to the rapid translation of discoveries made in the laboratory into new diagnostics and therapeutics in the near future. 2010 S. Karger AG, Basel.

  6. [Autoantibody-associated autoimmune encephalitis and cerebellitis : Clinical presentation, diagnostic work-up and treatment].

    PubMed

    Lewerenz, J; Jarius, S; Wildemann, B; Wandinger, K-P; Leypoldt, F

    2016-12-01

    There is no other field of neurology where clinically relevant serological biomarkers have witnessed a surge in importance over the past decade resembling that in autoimmune encephalitis and cerebellitis. A multitude of newly discovered neuronal autoantibodies facilitate early diagnosis, estimation of prognosis, and therapeutic decision-making. However, this has led to growing uncertainty with regard to meaningful patient selection, the appropriate extent of testing, and management of seronegative cases. This review summarizes the essential aspects of the clinical presentation, diagnostic work-up, pathophysiology, and treatment of autoimmune encephalitis and cerebellitis.

  7. A Vision for Better Health: Mass Spectrometry Imaging for Clinical Diagnostics

    PubMed Central

    Ye, Hui; Gemperline, Erin; Li, Lingjun

    2012-01-01

    Background Mass spectrometry imaging (MSI) is a powerful tool that grants the ability to investigate a broad mass range of molecules from small molecules to large proteins by creating detailed distribution maps of selected compounds. Its usefulness in biomarker discovery towards clinical applications has obtained success by correlating the molecular expression of tissues acquired from MSI with well-established histology. Results To date, MSI has demonstrated its versatility in clinical applications, such as biomarker diagnostics of different diseases, prognostics of disease severities and metabolic response to drug treatment, etc. These studies have provided significant insight in clinical studies over the years and current technical advances are further facilitating the improvement of this field. Although the underlying concept is simple, factors such as choice of ionization method, sample preparation, instrumentation and data analysis must be taken into account for successful applications of MSI. Herein, we briefly reviewed these key elements yet focused on the clinical applications of MSI that cannot be addressed by other means. Conclusions Challenges and future perspectives in this field are also discussed to conclude that the ever-growing applications with continuous development of this powerful analytical tool will lead to a better understanding of the biology of diseases and improvements in clinical diagnostics. PMID:23078851

  8. Clinical Assessment and Diagnostics of Patients With Hand Disorders: A Case Study Approach.

    PubMed

    Leow, Mabel Qi He; Lim, Rebecca Qian Ru; Tay, Shian Chao

    Clinical assessment of the hand is important for diagnosing underlying hand disorders. Using a case study approach, the clinical assessment for three disorders of the hands is presented: trigger finger (stenosing tenosynovitis), carpal tunnel syndrome, and ulnar-sided wrist injury (styloid impingement). We assess the annular one pulley and finger range of motion for patients with trigger finger. To diagnose for carpal tunnel syndrome, assessment for Tinel's sign, Phalen's sign, abductor pollicis brevis muscle bulk, two-point discrimination, and obtaining a nerve conduction study are performed. Assessment for ulnar-sided wrist injury includes wrist range of motion, assessment of distal radial ulnar joint stability, provocation tests, grip strength, x-ray, and magnetic resonance imaging. This article begins with a description of the hand and wrist anatomy. For each case study, the clinical history is described, followed by a discussion of the pathophysiology, clinical assessments, and diagnostic tests.

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

    PubMed

    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.

  10. Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond.

    PubMed

    Rosenquist, Richard; Rosenwald, Andreas; Du, Ming-Qing; Gaidano, Gianluca; Groenen, Patricia; Wotherspoon, Andrew; Ghia, Paolo; Gaulard, Philippe; Campo, Elias; Stamatopoulos, Kostas

    2016-09-01

    Similar to the inherent clinical heterogeneity of most, if not all, lymphoma entities, the genetic landscape of these tumors is markedly complex in the majority of cases, with a rapidly growing list of recurrently mutated genes discovered in recent years by next-generation sequencing technology. Whilst a few genes have been implied to have diagnostic, prognostic and even predictive impact, most gene mutations still require rigorous validation in larger, preferably prospective patient series, to scrutinize their potential role in lymphoma diagnostics and patient management. In selected entities, a predominantly mutated gene is identified in almost all cases (e.g. Waldenström's macroglobulinemia/lymphoplasmacytic lymphoma and hairy-cell leukemia), while for the vast majority of lymphomas a quite diverse mutation pattern is observed, with a limited number of frequently mutated genes followed by a seemingly endless tail of genes with mutations at a low frequency. Herein, the European Expert Group on NGS-based Diagnostics in Lymphomas (EGNL) summarizes the current status of this ever-evolving field, and, based on the present evidence level, segregates mutations into the following categories: i) immediate impact on treatment decisions, ii) diagnostic impact, iii) prognostic impact, iv) potential clinical impact in the near future, or v) should only be considered for research purposes. In the coming years, coordinated efforts aiming to apply targeted next-generation sequencing in large patient series will be needed in order to elucidate if a particular gene mutation will have an immediate impact on the lymphoma classification, and ultimately aid clinical decision making. Copyright© Ferrata Storti Foundation.

  11. Clinical Predictors of Diagnostic Testing Utility in the Initial Evaluation of Chronic Kidney Disease

    PubMed Central

    Mendu, Mallika L.; Lundquist, Andrew; Aizer, Ayal A.; Leaf, David E.; Robinson, Emily; Steele, David J.R.; Waikar, Sushrut S.

    2016-01-01

    Aim No evidence-based approach to the evaluation of CKD has been established. We sought to identify clinical criteria to guide a rational diagnostic approach for the initial evaluation of CKD. Methods We conducted a retrospective cohort study of 1,487 patients presenting for initial evaluation of CKD over three years (1/2010–1/2013) to academic nephrology clinics. We utilized the electronic medical record to determine tests ordered, abnormal results, and testing that affected diagnosis and/or management. Diagnostic and management yield of testing was defined as the percentage of tests that affected diagnosis and/or management. High yield for a given test was defined as an increased likelihood of the test affecting diagnosis and/or management. Results We identified clinical criteria predictive of high yield for paraprotein-related testing (one of the following: history of monoclonal disease, high risk of CKD progression, hypercalcemia or hemoglobin <10.6), and clinical criteria predictive of high yield for glomerulonephritis testing (one of the following: abnormal urine sediment, 3+ or greater hematuria or proteinuria >500mg/gm). A prior history of hydronephrosis and renal artery stenosis was predictive of high yield of abnormal renal ultrasound. Higher yield of testing was associated with higher risk progression categories for ANA, SPEP, urine sediment, calcium, PTH, hemoglobin, iron, and ferritin. We estimate that initial CKD evaluation costs range from $28 to $109 million/year in US-Medicare expenditure. Conclusion Numerous tests without significant clinical utility are obtained in initial CKD evaluation. Identifying criteria that can guide diagnostic testing may lead to a more informed and cost-effective approach to evaluation. PMID:26610178

  12. Creating a Patient-Centered Radiology Practice Through the Establishment of a Diagnostic Radiology Consultation Clinic.

    PubMed

    Mangano, Mark D; Bennett, Susan E; Gunn, Andrew J; Sahani, Dushyant V; Choy, Garry

    2015-07-01

    The purposes of this study were to assess the feasibility of and to create a referral mechanism for a diagnostic radiology consultation clinic. A pilot program was instituted with patients from a single primary care clinic over a 3-week period. Patients with findings of common problems at routine imaging, such as atherosclerosis, emphysema, and hepatic steatosis, were eligible to participate. As the patients arrived for their routine primary care visits, office staff informed them of the opportunity to formally meet with a radiologist to review their most recent imaging findings. The office staff of the primary care clinic then contacted the radiologist covering the diagnostic radiology consultation clinic to schedule a consultation. A survey was administered before and after the session. Twenty-two patients participated (88% participation rate). Participants rated the consultation as very helpful (mean, 4.8 on 1-5 scale), and all participants would take the opportunity to review studies with the radiologist again. Significantly more patients preferred the involvement of the radiologist in communicating the results of an imaging examination after the consultation compared with before the consultation (p = 0.001). After the consultation session, patients had significantly improved understanding of a radiologist's role (p = 0.004), and all participants were able to correctly identify the radiologist as a physician who interprets medical images. A referral mechanism for a diagnostic radiology consultation clinic can be effectively integrated into the everyday workflow of both the referring physician and the radiologist. The consultations are useful to patients and help to increase their awareness of the role of the radiologist.

  13. Clinical utility of machine-learning approaches in schizophrenia: improving diagnostic confidence for translational neuroimaging.

    PubMed

    Iwabuchi, Sarina J; Liddle, Peter F; Palaniyappan, Lena

    2013-01-01

    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- and 7-T) to discriminate patients with schizophrenia (n = 19) from healthy controls (n = 20). Gray matter (GM) and white matter images were used as inputs into a support vector machine to classify patients and control subjects. Seven Tesla classifiers outperformed the 3-T classifiers with accuracy reaching as high as 77% for the 7-T GM classifier compared to 66.6% for the 3-T 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 7-T classifiers, whereby for each correct diagnosis made, the number of patients that need to be examined using the 7-T 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.

  14. Clinical Utility of Machine-Learning Approaches in Schizophrenia: Improving Diagnostic Confidence for Translational Neuroimaging

    PubMed Central

    Iwabuchi, Sarina J.; Liddle, Peter F.; Palaniyappan, Lena

    2013-01-01

    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- and 7-T) to discriminate patients with schizophrenia (n = 19) from healthy controls (n = 20). Gray matter (GM) and white matter images were used as inputs into a support vector machine to classify patients and control subjects. Seven Tesla classifiers outperformed the 3-T classifiers with accuracy reaching as high as 77% for the 7-T GM classifier compared to 66.6% for the 3-T 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 7-T classifiers, whereby for each correct diagnosis made, the number of patients that need to be examined using the 7-T 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. PMID:24009589

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

    PubMed

    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.

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

    PubMed

    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.

  17. Evolution of the Preliminary Clinical Year and the Case for a Categorical Diagnostic Radiology Residency.

    PubMed

    Pfeifer, Cory M

    2016-07-01

    While other specialties traditionally utilizing a segregated clinical internship year have slowly progressed toward integrated training curricula, diagnostic radiology has been slow to adopt this path. The aim of this study was to analyze the trends in stand-alone preliminary clinical years as well as the shift toward categorical residencies currently being undertaken in other specialties. Advantages of mimicking the trends of other specialties and current integrated radiology programs are discussed. The perception of diagnostic radiology as a competitive specialty is explored, and the prospect of change as a recruiting tool is examined. Data assimilated by the NRMP from 1994 through 2016 were processed and analyzed. The total number of postgraduate year (PGY) 1 preliminary year programs has remained relatively constant over the past 10 years despite a gradual increase in overall NRMP applicants. The proportion of these programs offered as a transitional year declined from 31% in 1994 to 20% in 2016. The proportion of categorical anesthesiology positions gradually rose from 43% in 2007 to 70% in 2016. The fraction of categorical neurology positions increased from 30% in 2007 to 59% in 2016. The percentage of diagnostic radiology programs beginning at the PGY 1 level has been relatively constant at 12% to 14% since 2007. Dermatology has increased advanced (PGY 2) positions while decreasing categorical (PGY 1) positions. Those matching in diagnostic radiology have performed at a high level compared with the composite NRMP average since 2007. In the 2015 match, there were 65 diagnostic radiology programs that did not fill all of their offered positions. Of the institutions housing these programs, only 22% of them had preliminary internal medicine or transitional year positions available after the match. In response to the evolving nature of health care and graduate medical education, other specialties are gradually shifting toward curricular structures that begin at

  18. Diagnostic implications of TERT promoter mutation status in diffuse gliomas in a routine clinical setting.

    PubMed

    Hewer, Ekkehard; Prebil, Nadine; Berezowska, Sabina; Gutt-Will, Marielena; Schucht, Philippe; Dettmer, Matthias S; Vassella, Erik

    2017-08-19

    IDH (isocitrate dehydrogenase) gene mutations are present in most diffuse low-grade gliomas and define the clinico-pathological core of the respective morphologically defined entities. Conversely, according to the 2016 WHO classification, the majority of glioblastomas belong to the IDH-wildtype category, which is defined by exclusion. TERT (telomerase reverse transcriptase gene) promoter mutations have been suggested as a molecular marker for primary glioblastomas. We analyzed molecular, histopathological, and clinical profiles of a series of 110 consecutive diffuse gliomas (WHO grades II-IV) diagnosed at our institution, in which TERT promoter mutation analysis had been performed as part of diagnostic work-up. A diagnostic algorithm based on IDH, TERT, ATRX, H3F3A, and 1p19q co-deletion status resulted in a consistent molecular classification with only 14 (13%) marker-negative tumors. TERT promoter mutations were present in 77% of IDH-wildtype tumors. The TERT/IDH-wildtype category was highly enriched for tumors with unconventional clinical or histological features. Molecular classes were associated with distinct rates of MGMT promoter methylation. We conclude that, in a routine diagnostic setting, TERT promoter mutations define a relatively homogeneous core group among IDH-wildtype diffuse gliomas that includes the majority of primary glioblastomas as well as their putative precursor lesions.

  19. Are all significant P values created equal? The analogy between diagnostic tests and clinical research.

    PubMed

    Browner, W S; Newman, T B

    1987-05-08

    Just as diagnostic tests are most helpful in light of the clinical presentation, statistical tests are most useful in the context of scientific knowledge. Knowing the specificity and sensitivity of a diagnostic test is necessary, but insufficient: the clinician must also estimate the prior probability of the disease. In the same way, knowing the P value and power, or the confidence interval, for the results of a research study is necessary but insufficient: the reader must estimate the prior probability that the research hypothesis is true. Just as a positive diagnostic test does not mean that a patient has the disease, especially if the clinical picture suggests otherwise, a significant P value does not mean that a research hypothesis is correct, especially if it is inconsistent with current knowledge. Powerful studies are like sensitive tests in that they can be especially useful when the results are negative. Very low P values are like very specific tests; both result in few false-positive results due to chance. This Bayesian approach can clarify much of the confusion surrounding the use and interpretation of statistical tests.

  20. Clinical Practice Guideline for Diagnostic Testing for Adult Obstructive Sleep Apnea: An American Academy of Sleep Medicine Clinical Practice Guideline

    PubMed Central

    Kapur, Vishesh K.; Auckley, Dennis H.; Chowdhuri, Susmita; Kuhlmann, David C.; Mehra, Reena; Ramar, Kannan; Harrod, Christopher G.

    2017-01-01

    Introduction: This guideline establishes clinical practice recommendations for the diagnosis of obstructive sleep apnea (OSA) in adults and is intended for use in conjunction with other American Academy of Sleep Medicine (AASM) guidelines on the evaluation and treatment of sleep-disordered breathing in adults. Methods: The AASM commissioned a task force of experts in sleep medicine. A systematic review was conducted to identify studies, and the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) process was used to assess the evidence. The task force developed recommendations and assigned strengths based on the quality of evidence, the balance of benefits and harms, patient values and preferences, and resource use. In addition, the task force adopted foundational recommendations from prior guidelines as “good practice statements”, that establish the basis for appropriate and effective diagnosis of OSA. The AASM Board of Directors approved the final recommendations. Recommendations: The following recommendations are intended as a guide for clinicians diagnosing OSA in adults. Under GRADE, a STRONG recommendation is one that clinicians should follow under most circumstances. A WEAK recommendation reflects a lower degree of certainty regarding the outcome and appropriateness of the patient-care strategy for all patients. The ultimate judgment regarding propriety of any specific care must be made by the clinician in light of the individual circumstances presented by the patient, available diagnostic tools, accessible treatment options, and resources. Good Practice Statements: Diagnostic testing for OSA should be performed in conjunction with a comprehensive sleep evaluation and adequate follow-up. Polysomnography is the standard diagnostic test for the diagnosis of OSA in adult patients in whom there is a concern for OSA based on a comprehensive sleep evaluation. Recommendations: We recommend that clinical tools, questionnaires and prediction

  1. Understanding Negative Predictive Value of Diagnostic Tests Used in Clinical Practice.

    PubMed

    Umberger, Reba A; Hatfield, Linda A; Speck, Patricia M

    Nurses review, evaluate, and use diagnostic test results on a routine basis. However, the skills necessary to evaluate a particular test using statistical outcome measures is often lacking. The purpose of this article is to examine and interpret the underlying principles for use of the statistical outcomes of diagnostic screening tests (sensitivity, specificity, and positive (PPV) and negative (NPV) predictive values, with a discussion about use of SpPIn [Specificity, Positive test = rule in], and SnNOut [Sensitivity, Negative test = rule out]) in advanced nursing clinical practice. The authors focus on NPVs because test results with high NPV are useful to practitioners when considering unnecessary, costly, and possibly risky treatments, whether using clinical assessment tool, test, or procedure or using polymerase chain reaction analysis of DNA test results. In this article, the authors emphasize the use of NPV in treatment decisions by providing examples from critical care, neonatal, and advanced forensic nursing, which become a framework for assessing decisions in the clinical arena. This commentary stresses the importance of the NPV of tests in preventing, detecting, and ruling out disease, where PPV may not be relevant for that purpose. Negative predictive value percentages inform treatment decisions when the provider understands the biology, chemistry, and foundation for testing methods used in clinical practices. The art of diagnosis, confirmed in a test's high NPV (meaning the patient probably does not have the disease when the test is negative), reassures provider treatment stewardship to do no harm.

  2. Diagnostic subgroups of craniomandibular disorders. Part I: Self-report data and clinical findings.

    PubMed

    Lobbezoo-Scholte, A M; De Leeuw, J R; Steenks, M H; Bosman, F; Buchner, R; Olthoff, L W

    1995-01-01

    An overview is given of the most commonly investigated signs and symptoms associated with craniomandibular disorders as detected in a population of patients with craniomandibular disorders and in four defined diagnostic subgroups. The information was collected with a questionnaire and during an extensive clinical examination. Comparison of self-report and clinical data indicated that these two methods reveal different aspects of the patient's complaints and should be interpreted in their own way. The results showed that no statistically significant differences could be found between the four diagnostic subgroups with respect to occlusal factors, trauma, and clinically assessed parafunctional habits. The groups differed considerably with respect to general characteristics, pain variables, signs of craniomandibular disorders, self-reported para-functional habits, psychosocial factors, and general health factors. However, despite the reduction in clinical characteristics of the four subgroups, there was little reduction in the diversity of factors associated with craniomandibular disorders. This implicates that almost all factors associated with craniomandibular disorders may influence the initiation and perpetuation of the different disorders in the individual patient, and therefore, remain of interest in future research.

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

    PubMed

    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.

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

    PubMed

    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.

  5. Diagnostic Implication and Clinical Relevance of Ancillary Techniques in Clinical Pathology Practice

    PubMed Central

    Makki, Jaafar S.

    2016-01-01

    Hematoxylin–eosin-stained slide preparation is one of the most durable techniques in medicine history, which has remained unchanged since implemented. It allows an accurate microscopic diagnosis of the vast majority of tissue samples. In many circumstances, this technique cannot answer all the questions posed at the initial diagnostic level. The pathologist has always been looking for additional ancillary techniques to answer pending questions. In our daily histopathology practice, we referred to those techniques as special stains, but nowadays, they are more than stains and are collectively called ancillary tests. They include a wide range of techniques starting from histochemical stains and ending in one or more advanced techniques, such as immunohistochemistry, immunofluorescence, molecular studies, cytogenetic studies, electron microscopy, flow cytometry, and polymerase chain reaction. PMID:27042154

  6. Avian Paramyxovirus Serotype-1: A Review of Disease Distribution, Clinical Symptoms, and Laboratory Diagnostics

    PubMed Central

    Hines, Nichole L.; Miller, Cathy L.

    2012-01-01

    Avian paramyxovirus serotype-1 (APMV-1) is capable of infecting a wide range of avian species leading to a broad range of clinical symptoms. Ease of transmission has allowed the virus to spread worldwide with varying degrees of virulence depending on the virus strain and host species. Classification systems have been designed to group isolates based on their genetic composition. The genetic composition of the fusion gene cleavage site plays an important role in virulence. Presence of multiple basic amino acids at the cleavage site allows enzymatic cleavage of the fusion protein enabling virulent viruses to spread systemically. Diagnostic tests, including virus isolation, real-time reverse-transcription PCR, and sequencing, are used to characterize the virus and identify virulent strains. Genetic diversity within APMV-1 demonstrates the need for continual monitoring for changes that may arise requiring modifications to the molecular assays to maintain their usefulness for diagnostic testing. PMID:22577610

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

    PubMed

    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.

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

    PubMed

    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.

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

    PubMed

    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.

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

    PubMed

    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.

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

    PubMed

    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.

  12. En Route to the Clinic: Diagnostic Sequencing Applications Using the Ion Torrent ( 7th Annual SFAF Meeting, 2012)

    ScienceCinema

    Muzny, Donna [Baylor College of Medicine

    2016-07-12

    Donna Muzny on "En route to the clinic: Diagnostic sequencing applications using the Ion Torrent" at the 2012 Sequencing, Finishing, Analysis in the Future Meeting held June 5-7, 2012 in Santa Fe, New Mexico.

  13. Diagnostic Value of Clinical Findings in Evaluation of Thoracolumbar Blunt Traumas.

    PubMed

    Shahrami, Ali; Shojaee, Majid; Tabatabaee, Seyed Mohammadreza; Mianehsaz, Elaheh

    2016-01-01

    Necessity of imaging for symptom-free conscious patients presented to emergency department (ED) following traumatic thoracolumbar spine injuries has been a matter of debate. The present study was aimed to evaluate the diagnostic value of clinical findings in prediction of traumatic thoracolumbar injuries compared tocomputed tomography (CT) scan. The present diagnostic value study was carried out using non-random convenience sampling during the time between October 2013 and March 2014. All trauma patients > 15 years old underwent thoracolumbar CT scan were included. Correlation between clinical and CT findings was measured using SPSS 21.0 and screening performance characteristics of clinical findings in prediction of thoracolumbar fracture were calculated. 169 patients with mean age of 37.8 ± 17.3 years (rage: 15-86) were evaluated (69.8% male). All fracture patients had at least 1 positive finding in history and physical examination. The fracture was confirmed in only 24.6% of the patients with positive findings in history or physical examination. In 37.5% of patients the location of fracture, matched the area of positive physical examinations. Sensitivity, specificity, PPV, NPV, PLR, and NLR of clinical findings in comparison to thoracolumbar CT scan were 100 (95% CI: 89 - 100), 1.5 (95% CI: 0.2-6), 24.5 (95% CI: 18.3-31.9), 100 (95% CI: 19.7-100), 32.5 (95% CI: 24.6-43.03), and infinite, respectively. The results of the present study, show the excellent screening performance characteristics of clinical findings in prediction of traumatic thoracolumbar fracture (100% sensitivity). It could be concluded that in conscious patients with stable hemodynamic, who have no distracting pain and are not intoxicated, probability of thoracolumbar fracture is very low and near to zero in case of no positive clinical finding.

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

    PubMed

    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.

  15. The clinical significance of amenorrhea as a diagnostic criterion for anorexia nervosa.

    PubMed

    Roberto, Christina A; Steinglass, Joanna; Mayer, Laurel E S; Attia, Evelyn; Walsh, B Timothy

    2008-09-01

    Amenorrhea is a DSM-IV criterion for the diagnosis of anorexia nervosa (AN). Several studies have reported few differences between patients who meet the full DSM-IV criteria for AN and those who meet all but the amenorrhea criterion. Although this suggests that the absence of menses does not provide critical diagnostic information, many of these studies are limited by small sample sizes. This study aims to examine the clinical utility of amenorrhea as a criterion for the diagnosis of AN. A chart review was conducted of 240 consecutive patients admitted for inpatient treatment at the NY State Psychiatric Institute from 1993 to 2006. Menstrual data were collected from the Eating Disorder Examination conducted upon admission. Independent samples t-tests were performed to evaluate differences in clinical variables, including age, lifetime lowest body mass index (BMI), admission and discharge BMI, previous number of hospitalizations, duration of illness, Beck Depression Inventory total score, Beck Anxiety Inventory total score, and Eating Disorder Examination subscale scores. The amenorrheic and menstruating groups differed significantly only on lowest lifetime BMI and admission BMI, with individuals with amenorrhea having lower BMIs on both measures. These results indicate that amenorrhea does not distinguish between groups on a number of important measures of clinical severity. It may be that amenorrhea reflects weight and nutritional status, rather than providing useful diagnostic information. Future studies are needed to examine the potential prognostic value of menstrual status. (c) 2008 by Wiley Periodicals, Inc.

  16. Acute kidney injury—an overview of diagnostic methods and clinical management

    PubMed Central

    Hertzberg, Daniel; Rydén, Linda; Pickering, John W.; Sartipy, Ulrik

    2017-01-01

    Abstract Acute kidney injury (AKI) is a common condition in multiple clinical settings. Patients with AKI are at an increased risk of death, over both the short and long term, and of accelerated renal impairment. As the condition has become more recognized and definitions more unified, there has been a rapid increase in studies examining AKI across many different clinical settings. This review focuses on the classification, diagnostic methods and clinical management that are available, or promising, for patients with AKI. Furthermore, preventive measures with fluids, acetylcysteine, statins and remote ischemic preconditioning, as well as when dialysis should be initiated in AKI patients are discussed. The classification of AKI includes both changes in serum creatinine concentrations and urine output. Currently, no kidney injury biomarkers are included in the classification of AKI, but proposals have been made to include them as independent diagnostic markers. Treatment of AKI is aimed at addressing the underlying causes of AKI, and at limiting damage and preventing progression. The key principles are: to treat the underlying disease, to optimize fluid balance and optimize hemodynamics, to treat electrolyte disturbances, to discontinue or dose-adjust nephrotoxic drugs and to dose-adjust drugs with renal elimination. PMID:28616210

  17. Performance evaluation of diagnostic radiology dosimeters in clinical and calibration x-ray beams.

    PubMed

    Hourdakis, Costantine John; Boziari, Argyro; Manetou, Aggeliki

    2010-05-01

    Diagnostic radiology dosimeters should comply with International Electrotechnical Commission (IEC) 61674 standard in order to perform measurements with sufficient accuracy and reliability. The calibration of a dosimeter is performed under, and pertains to, reference conditions. However, in most cases, dosimeters are used for clinical measurements under non-reference conditions. The performance, in terms of accuracy of dose measurements, of six commercial diagnostic radiology dosimeters was tested at reference calibration and at clinical non-reference conditions. The results showed that all dosimeters being tested exhibited limits of variation within the +/-5% IEC limits. Depending on the detector's physical and operational properties, the dosimeters' energy dependence of response values varied from -4.7% to +4.2%. To address this variation of response, calibration at three radiation qualities (RQR 3, RQR 5, and RQR 9), at least, is recommended. Different irradiation conditions such as air kerma rate, x-ray tube design, x-ray system, and dosimeter operational modes affect the dosimeters' response by less than 3%. A dosimeter that complies with IEC standards and operates according to its specifications could be used at typical clinical irradiation conditions taking into account only corrections for the energy dependence of response. In this case, the error in dose accuracy is expected to be less than 3%.

  18. Smoldering multiple myeloma: pathophysiologic insights, novel diagnostics, clinical risk models, and treatment strategies.

    PubMed

    Kazandjian, Dickran; Mailankody, Sham; Korde, Neha; Landgren, Ola

    2014-09-01

    Smoldering multiple myeloma (SMM) is a plasma cell disorder first described in 1980 when 6 patients were observed to meet the diagnostic criteria of multiple myeloma, defined as bone marrow plasmacytosis of 10% or greater or M protein level of 3 g/dL or greater, but did not have end-organ damage. Subsequent studies showed that the cumulative risk of SMM progression to symptomatic myeloma in 15 years was 73%. Since this time, advances have been made in understanding the biology of progression; namely, the contribution of branching evolution and microenvironment models to clonal heterogeneity. In parallel to this, clinical risk models using standard platforms of serum, bone marrow, and fluorescence in situ hybridization markers along with newer technologies of flow cytometry, gene expression profiling, and magnetic resonance imaging have been developed for prognostic stratification. Treatment has extended to the early myeloma category owing to more sensitive diagnostic approaches. The development of novel treatments will have to take into consideration our current knowledge of biological transformation. While it may be attractive to initiate early treatment in light of recent studies for high-risk SMM patients, clinical trial evidence of efficacy vs toxicity is still in its infancy. In our opinion, high-risk SMM patients should be strongly encouraged to enroll in treatment clinical trials, but treatment with unapproved agents or indications is not supported outside of trials.

  19. Tuberculosis: current treatment, diagnostics, and newer antitubercular agents in clinical trials.

    PubMed

    Ahsan, Mohamed Jawed; Ansari, Mohammad Yousuf; Yasmin, Sabina; Jadav, Surender Singh; Kumar, Pradeep; Garg, Shiv Kumar; Aseri, Ajay; Khalilullah, Habibullah

    2015-01-01

    Tuberculosis (TB), a dreadful disease is one of the most important health problems worldwide, and is responsible for approximately 1.3 million death tolls in 2012. DOTS is the currently used drug therapy in TB and the long term drug regimens and patients' poor compliance lead to emergence of multidrug resistant (MDR) and extensively drug resistant (XDR) TB, which invigorates the research efforts to address the urgent need for the quick diagnosis and for newer antitubercular agents and vaccines to completely eradicate TB. Today we have at least 20 new diagnostic test platforms, 14 TB vaccine candidates in clinical trials and over 35 candidates in preclinical development, and among the antitubercular agents under clinical investigation, 4 anti-TB agents are in Phase III (efficacy) trials and 7 anti-TB agents are in Phase II, early bactericidal activity and sputum culture conversion trials (rifapentine is in a Phase II and a Phase III trial), 5 anti-TB agents in preclinical development and 3 anti-TB agents in Good Laboratory Practice toxicity evaluation. Recently US FDA has approved TMC207 as a part of combination therapy to treat adults with MDR pulmonary TB in the absence of other alternatives. We provide here the concise review on the chemical entities currently in the clinical trials, the new vaccines in the developmental pipeline, and the new diagnostic test.

  20. Clinical, diagnostic and therapeutic management of patients with breast tuberculosis: Analysis of 46 Cases.

    PubMed

    Kilic, Murat Ozgur; Sağlam, Cemile; Ağca, Filiz D; Terzioğlu, Serdar G

    2016-01-01

    Breast tuberculosis is a rare form of extrapulmonary tubercular infection. Our aim is to highlight the nonspecific clinical presentations, diagnostic difficulties and therapeutic approaches of mammarian tuberculosis. Forty-six patients diagnosed with breast tuberculosis between 2005 and 2015 were reviewed retrospectively. Clinical features, all diagnostic methods, and the outcomes of treatment were analysed. All cases were female with a mean age of 36.4 years. Breast mass and pain were the most common complaints. While 34.8% of the cases had a physical examination with suspicions for malignancy, 43.5% of the patients had Breast Imaging Reporting and Data System (BI-RADS) 4 or 5 lesions suggested malignancy radiologically. Definitive diagnosis was based on histopathologic examination through core needle biopsy (n = 29), excisional biopsy (n = 12), and open biopsy (n = 5) taken from the abscess wall during drainage. Standard antiTB therapy for 6 months was given to all cases. Thirty-three patients recovered with standard 6-month therapy while extended treatment for 9-12 months was needed in 13 (28.2%) cases. Surgery was carried out in 17 cases. Two patients developed recurrence. Breast tuberculosis can be easily confused with breast cancer, suppurative abscess, and other causes of granulomatous mastitis, both clinically and radiologically. A multidisciplinary approach is required to prevent diagnostic delays and unnecessary surgical interventions. Although antiTB therapy is the mainstay treatment of breast TB, surgery is usually indicated in patients refractory to medical treatment.

  1. Ocular static and dynamic light scattering: a noninvasive diagnostic tool for eye research and clinical practice

    NASA Technical Reports Server (NTRS)

    Ansari, Rafat R.

    2004-01-01

    The noninvasive techniques of static and dynamic light scattering are emerging as valuable diagnostic tools for the early detection of ocular and systemic diseases. These include corneal abnormalities, pigmentary dispersion syndrome, glaucoma, cataract, diabetic vitreopathy, and possibly macular degeneration. Systemic conditions such as diabetes and possibly Alzheimer's disease can potentially be detected early via ocular tissues. The current state of development of these techniques for application to ophthalmic research and ultimately clinical practice is reviewed. (c) 2004 Society of Photo-Optical Instrumentation Engineers.

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

    PubMed

    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.

  3. A rare case of plasmacytoid urothelial carcinoma of bladder: Diagnostic dilemmas and clinical implications

    PubMed Central

    Rahman, Khaliqur; Menon, Santosh; Patil, Asawari; Bakshi, Ganesh; Desai, Sangeeta

    2011-01-01

    Plasmacytoid urothelial carcinoma is an uncommon and aggressive variant of urothelial carcinoma associated with late presentation and poor prognosis. We discuss here the first reported case from India of a 54-year-old male who presented with hematuria. Cystoscopy showed edematous and ulcerated mucosa throughout the bladder. A transurethral biopsy revealed urothelial carcinoma with plasmacytoid appearance. He underwent a radial cystectomy which on histopathology showed plasmacytoid urothelial carcinoma of the bladder of high stage with involvement up to bladder serosa and adventitial walls of the ureter. The diagnostic dilemmas of this unusual variant of urothelial malignancy and its clinical impact are discussed. PMID:21716882

  4. Use and abuse of eight widely-used diagnostic procedures in clinical immunology: a WHO Memorandum*

    PubMed Central

    1981-01-01

    This Memorandum assesses eight widely-used diagnostic procedures with the aim of establishing their usefulness in patient care. For each procedure, the main methods that can be recommended at present are outlined and their pitfalls discussed. For each procedure, recommendations are made as to the clinical conditions for which the test is essential for diagnosis, the conditions for which the test will help in assessing and monitoring disease activity, and the conditions for which the test is useful for research purposes only. PMID:7032736

  5. Ocular static and dynamic light scattering: a noninvasive diagnostic tool for eye research and clinical practice

    NASA Technical Reports Server (NTRS)

    Ansari, Rafat R.

    2004-01-01

    The noninvasive techniques of static and dynamic light scattering are emerging as valuable diagnostic tools for the early detection of ocular and systemic diseases. These include corneal abnormalities, pigmentary dispersion syndrome, glaucoma, cataract, diabetic vitreopathy, and possibly macular degeneration. Systemic conditions such as diabetes and possibly Alzheimer's disease can potentially be detected early via ocular tissues. The current state of development of these techniques for application to ophthalmic research and ultimately clinical practice is reviewed. (c) 2004 Society of Photo-Optical Instrumentation Engineers.

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

    PubMed

    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.

  7. Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy.

    PubMed

    Jokela, Manu E; Udd, Bjarne

    2016-03-01

    Kennedy's disease or spinal and bulbar muscular atrophy (SBMA) is a multi-system disorder affecting adult males, which is characterized by weakness of limbs and faciobulbar muscles primarily due to loss of lower motor neurons. Besides the obvious motor neuronopathy, additional findings in a substantial proportion of SBMA patients include sensory neuropathy and signs of androgen deficiency, such as poor sexual functioning and reduced fertility with gynaecomastia. The presence of elevated glucose, liver pathology or dyslipidaemia is less consistent features. We review the striking clinical, electrodiagnostic and muscle pathology features characteristic of Kennedy's disease, which has some peculiar and diagnostically useful features not observed in many other neuromuscular disorders.

  8. Fostering Self-Discipline

    ERIC Educational Resources Information Center

    Bear, George G.; Duquette, Jeffrey F.

    2008-01-01

    From its inception, a primary goal of public education has been to develop self-discipline among students, best seen as them exhibiting socially and morally responsible behavior. This goal coincides with another important educational imperative, as well as an alternative meaning of the term "discipline": to correct misbehavior to create and…

  9. Prescription for Discipline.

    ERIC Educational Resources Information Center

    Cochran, Kathy H.

    1983-01-01

    The establishment of a code of discipline leads to better classroom management. Using behavior modification techniques discipline problems are minimized and both teachers and students are the winners. Lists seven rules for the music room and describes methods of positive reinforcement and appropriate punishment. (CS)

  10. The Major Disciplines.

    ERIC Educational Resources Information Center

    Minnesota State Dept. of Education, St. Paul. Teacher Certification and Placement Section.

    The development of a competency-based teacher certification program of social studies teachers in the state of Minnesota included this conceptual framework for the major social studies disciplines. Each of the major disciplines - anthropology, economics, geography, history, political science, psychology and philosophy, and sociology - are defined…

  11. Social Consciousness and Discipline.

    ERIC Educational Resources Information Center

    Walsh, Kevin; Cowles, Milly

    The act of disciplining children cannot be based upon merely "putting a stop" to negative actions by means of reactionary techniques of control. If educators begin to consider discipline as a major aspect of the educational aim of socialization of children, significant contributions toward their moral and social development will take place.…

  12. Fostering Self-Discipline

    ERIC Educational Resources Information Center

    Bear, George G.; Duquette, Jeffrey F.

    2008-01-01

    From its inception, a primary goal of public education has been to develop self-discipline among students, best seen as them exhibiting socially and morally responsible behavior. This goal coincides with another important educational imperative, as well as an alternative meaning of the term "discipline": to correct misbehavior to create and…

  13. Discipline Seminar Report.

    ERIC Educational Resources Information Center

    Seattle Public Schools, WA.

    This report, which contains information and observations gathered over a three-week period by participants in a 1981 seminar on discipline, outlines the discipline problems and policies of the Seattle Public Schools. Based on parental, staff, and student concerns that a small percentage of students are engaging in unacceptable behavior, the report…

  14. Positive Discipline. ERIC Digest.

    ERIC Educational Resources Information Center

    ERIC Clearinghouse on Elementary and Early Childhood Education, Urbana, IL.

    This ERIC Digest suggests methods and language that can be used in handling difficult, but common, situations involving young children. Discussion focuses on: (1) 12 methods of discipline that promote self-worth; (2) the process of creating a positive climate that promotes self-discipline; (3) harmful and negative disciplinary methods; and (4)…

  15. Doing Discipline Differently

    ERIC Educational Resources Information Center

    Sprick, Randy

    2009-01-01

    Reactive and exclusionary approaches to discipline are common in secondary schools but do not improve behavior or ensure safety. In this article, the author highlights two promising models that schools can combine to improve climate and discipline for all students. The combined models of PBS (positive behavior support) and RTI (response to…

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

    PubMed

    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.

  17. Diagnostic value of clinical tests for degenerative rotator cuff disease in medical practice.

    PubMed

    Lasbleiz, S; Quintero, N; Ea, K; Petrover, D; Aout, M; Laredo, J D; Vicaut, E; Bardin, T; Orcel, P; Beaudreuil, J

    2014-06-01

    To assess the diagnostic value of clinical tests for degenerative rotator cuff disease (DRCD) in medical practice. Patients with DRCD were prospectively included. Eleven clinical tests of the rotator cuff have been done. One radiologist performed ultrasonography (US) of the shoulder. Results of US were expressed as normal tendon, tendinopathy or full-thickness tear (the reference). For each clinical test and each US criteria, sensitivity, specificity, negative predictive value and positive predictive value, accuracy, negative likelihood ratio (NLR) and positive likelihood ratio (PLR) were calculated. Clinical relevance was defined as PLR ≥2 and NLR ≤0.5. For 35 patients (39 shoulders), Jobe (PLR: 2.08, NLR: 0.31) and full-can (2, 0.5) test results were relevant for diagnosis of supraspinatus tears and resisted lateral rotation (2.42, 0.5) for infraspinatus tears, with weakness as response criteria. The lift-off test (8.50, 0.27) was relevant for subscapularis tears with lag sign as response criteria. Yergason's test (3.7, 0.41) was relevant for tendinopathy of the long head of the biceps with pain as a response criterion. There was no relevant clinical test for diagnosis of tendinopathy of supraspinatus, infraspinatus or subscapularis. Five of 11 clinical tests were relevant for degenerative rotator cuff disease. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  18. Updates on clinically isolated syndrome and diagnostic criteria for multiple sclerosis.

    PubMed

    Marcus, Jacqueline F; Waubant, Emmanuelle L

    2013-04-01

    Clinically isolated syndrome (CIS) is a central nervous system demyelinating event isolated in time that is compatible with the possible future development of multiple sclerosis (MS). Early risk stratification for conversion to MS helps with treatment decisions. Magnetic resonance imaging (MRI) is currently the most useful tool to evaluate risk. Cerebrospinal fluid studies and evoked potentials may also be used to assess the likelihood of MS. Four clinical trials evaluating the benefits of either interferon β (IFN-β) or glatiramer acetate (GA) within the first 3 months after a high-risk CIS demonstrate decreased rates of conversion to clinically definite MS (CDMS) and a lesser degree of MRI progression with early treatment. In the 3-, 5-, and 10-year extension studies of 2 formulations of IFN-β, the decreased conversion rate to CDMS remained meaningful when comparing early treatment of CIS to treatment delayed by a median of 2 to 3 years. Diagnostic criteria have been developed based on the clinical and MRI follow-up of large cohorts with CIS and provide guidance on how to utilize clinical activity in combination with radiographic information to diagnose MS. The most recent 2010 McDonald criteria simplify requirements for dissemination in time and space and allow for diagnosis of MS from a baseline brain MRI if there are both silent gadolinium-enhancing lesions and nonenhancing lesions on the same imaging study. The diagnostic criteria for MS require special consideration in children at risk for acute disseminated encephalomyelitis (ADEM), in older adults who may have small vessel ischemic disease, and in ethnic groups that more commonly develop neuromyelitis optica (NMO).

  19. Design of a Web-tool for diagnostic clinical trials handling medical imaging research.

    PubMed

    Baltasar Sánchez, Alicia; González-Sistal, Angel

    2011-04-01

    New clinical studies in medicine are based on patients and controls using different imaging diagnostic modalities. Medical information systems are not designed for clinical trials employing clinical imaging. Although commercial software and communication systems focus on storage of image data, they are not suitable for storage and mining of new types of quantitative data. We sought to design a Web-tool to support diagnostic clinical trials involving different experts and hospitals or research centres. The image analysis of this project is based on skeletal X-ray imaging. It involves a computerised image method using quantitative analysis of regions of interest in healthy bone and skeletal metastases. The database is implemented with ASP.NET 3.5 and C# technologies for our Web-based application. For data storage, we chose MySQL v.5.0, one of the most popular open source databases. User logins were necessary, and access to patient data was logged for auditing. For security, all data transmissions were carried over encrypted connections. This Web-tool is available to users scattered at different locations; it allows an efficient organisation and storage of data (case report form) and images and allows each user to know precisely what his task is. The advantages of our Web-tool are as follows: (1) sustainability is guaranteed; (2) network locations for collection of data are secured; (3) all clinical information is stored together with the original images and the results derived from processed images and statistical analysis that enable us to perform retrospective studies; (4) changes are easily incorporated because of the modular architecture; and (5) assessment of trial data collected at different sites is centralised to reduce statistical variance.

  20. Updates on Clinically Isolated Syndrome and Diagnostic Criteria for Multiple Sclerosis

    PubMed Central

    Marcus, Jacqueline F.; Waubant, Emmanuelle L.

    2013-01-01

    Clinically isolated syndrome (CIS) is a central nervous system demyelinating event isolated in time that is compatible with the possible future development of multiple sclerosis (MS). Early risk stratification for conversion to MS helps with treatment decisions. Magnetic resonance imaging (MRI) is currently the most useful tool to evaluate risk. Cerebrospinal fluid studies and evoked potentials may also be used to assess the likelihood of MS. Four clinical trials evaluating the benefits of either interferon β (IFN-β) or glatiramer acetate (GA) within the first 3 months after a high-risk CIS demonstrate decreased rates of conversion to clinically definite MS (CDMS) and a lesser degree of MRI progression with early treatment. In the 3-, 5-, and 10-year extension studies of 2 formulations of IFN-β, the decreased conversion rate to CDMS remained meaningful when comparing early treatment of CIS to treatment delayed by a median of 2 to 3 years. Diagnostic criteria have been developed based on the clinical and MRI follow-up of large cohorts with CIS and provide guidance on how to utilize clinical activity in combination with radiographic information to diagnose MS. The most recent 2010 McDonald criteria simplify requirements for dissemination in time and space and allow for diagnosis of MS from a baseline brain MRI if there are both silent gadolinium-enhancing lesions and nonenhancing lesions on the same imaging study. The diagnostic criteria for MS require special consideration in children at risk for acute disseminated encephalomyelitis (ADEM), in older adults who may have small vessel ischemic disease, and in ethnic groups that more commonly develop neuromyelitis optica (NMO). PMID:23983889

  1. [Personalised pharmacogenetics. Evidence-based guidelines and clinical application of pharmacogenetic diagnostics].

    PubMed

    Stingl, J C; Brockmöller, J

    2013-11-01

    The broad clinical application of pharmacogenetic diagnostics for individualised drug treatment is still limited. With the exception of oncological therapies where molecular tumor makers are frequently used to decide upon individual drug therapies, pharmacogenetic testing is not generally offered in clinical laboratory diagnostics, because the costs are not covered by general health insurance and it is not evident what consequences the results of a genotyping test may have for the individual drug treatment. Especially in the context of pharmacokinetics, bioequivalence-based concepts have been developed that allow the individual drug dosage or therapy to be adjusted to genetic polymorphisms in drug metabolism, drug transport that affect drug absorption, metabolism and elimination. Pharmacogenetic aspects are increasingly included in the product information (e.g., on its website the FDA lists more than 60 drug labels that include pharmacogenetic information). However, most pharmacogenetic information on drug labels does not give recommendations for clinical decisions to be made based on individual genotypes. This gap is currently being closed by the development of international consortia aiming to base clinical recommendations on the best available evidence by systematic review of the existing data. The Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network (CPIC) is an international community-driven organisation that is developing peer-reviewed, freely available gene/drug guidelines that are published in full at PharmGKB (http://www.pharmgkb.org). The aim of these guidelines is to give therapeutic recommendations such as dose adjustments or suggestions for the choice of an alternative drug in the case of specific genotypes (phenotypes) that predict slow metabolism or transport of drugs or safety risks or risks of therapeutic failure. These guidelines are not mandatory but serve to facilitate the translation of pharmacogenetic

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

    SciTech Connect

    Jackson, E.

    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

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

    NASA Astrophysics Data System (ADS)

    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.

  4. Specificity of Incident Diagnostic Outcomes in Patients at Clinical High Risk for Psychosis

    PubMed Central

    Webb, Jadon R.; Addington, Jean; Perkins, Diana O.; Bearden, Carrie E.; Cadenhead, Kristin S.; Cannon, Tyrone D.; Cornblatt, Barbara A.; Heinssen, Robert K.; Seidman, Larry J.; Tarbox, Sarah I.; Tsuang, Ming T.; Walker, Elaine F.; McGlashan, Thomas H.; Woods, Scott W.

    2015-01-01

    It is not well established whether the incident outcomes of the clinical high-risk (CHR) syndrome for psychosis are diagnostically specific for psychosis or whether CHR patients also are at elevated risk for a variety of nonpsychotic disorders. We collected 2 samples (NAPLS-1, PREDICT) that contained CHR patients and a control group who responded to CHR recruitment efforts but did not meet CHR criteria on interview (help-seeking comparison patients [HSC]). Incident diagnostic outcomes were defined as the occurrence of a SIPS-defined psychosis or a structured interview diagnosis from 1 of 3 nonpsychotic Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) groups (anxiety, bipolar, or nonbipolar mood disorder), when no diagnosis in that group was present at baseline. Logistic regression revealed that the CHR vs HSC effect did not vary significantly across study for any emergent diagnostic outcome; data from the 2 studies were therefore combined. CHR (n = 271) vs HSC (n = 171) emergent outcomes were: psychosis 19.6% vs 1.8%, bipolar disorders 1.1% vs 1.2%, nonbipolar mood disorders 4.4% vs 5.3%, and anxiety disorders 5.2% vs 5.3%. The main effect of CHR vs HSC was statistically significant (OR = 13.8, 95% CI 4.2–45.0, df = 1, P < .001) for emergent psychosis but not for any emergent nonpsychotic disorder. Sensitivity analyses confirmed these findings. Within the CHR group emergent psychosis was significantly more likely than each nonpsychotic DSM-IV emergent disorder, and within the HSC group emergent psychosis was significantly less likely than most emergent nonpsychotic disorders. The CHR syndrome is specific as a marker for research on predictors and mechanisms of developing psychosis. PMID:26272875

  5. Retrieval of diagnostic and treatment studies for clinical use through PubMed and PubMed's Clinical Queries filters

    PubMed Central

    Haynes, R Brian; Wilczynski, Nancy L; McKibbon, K Ann; Walter, Stephen D

    2011-01-01

    Objective Clinical Queries filters were developed to improve the retrieval of high-quality studies in searches on clinical matters. The study objective was to determine the yield of relevant citations and physician satisfaction while searching for diagnostic and treatment studies using the Clinical Queries page of PubMed compared with searching PubMed without these filters. Materials and methods Forty practicing physicians, presented with standardized treatment and diagnosis questions and one question of their choosing, entered search terms which were processed in a random, blinded fashion through PubMed alone and PubMed Clinical Queries. Participants rated search retrievals for applicability to the question at hand and satisfaction. Results For treatment, the primary outcome of retrieval of relevant articles was not significantly different between the groups, but a higher proportion of articles from the Clinical Queries searches met methodologic criteria (p=0.049), and more articles were published in core internal medicine journals (p=0.056). For diagnosis, the filtered results returned more relevant articles (p=0.031) and fewer irrelevant articles (overall retrieval less, p=0.023); participants needed to screen fewer articles before arriving at the first relevant citation (p<0.05). Relevance was also influenced by content terms used by participants in searching. Participants varied greatly in their search performance. Discussion Clinical Queries filtered searches returned more high-quality studies, though the retrieval of relevant articles was only statistically different between the groups for diagnosis questions. Conclusion Retrieving clinically important research studies from Medline is a challenging task for physicians. Methodological search filters can improve search retrieval. PMID:21680559

  6. Retrieval of diagnostic and treatment studies for clinical use through PubMed and PubMed's Clinical Queries filters.

    PubMed

    Lokker, Cynthia; Haynes, R Brian; Wilczynski, Nancy L; McKibbon, K Ann; Walter, Stephen D

    2011-01-01

    Clinical Queries filters were developed to improve the retrieval of high-quality studies in searches on clinical matters. The study objective was to determine the yield of relevant citations and physician satisfaction while searching for diagnostic and treatment studies using the Clinical Queries page of PubMed compared with searching PubMed without these filters. Forty practicing physicians, presented with standardized treatment and diagnosis questions and one question of their choosing, entered search terms which were processed in a random, blinded fashion through PubMed alone and PubMed Clinical Queries. Participants rated search retrievals for applicability to the question at hand and satisfaction. For treatment, the primary outcome of retrieval of relevant articles was not significantly different between the groups, but a higher proportion of articles from the Clinical Queries searches met methodologic criteria (p=0.049), and more articles were published in core internal medicine journals (p=0.056). For diagnosis, the filtered results returned more relevant articles (p=0.031) and fewer irrelevant articles (overall retrieval less, p=0.023); participants needed to screen fewer articles before arriving at the first relevant citation (p<0.05). Relevance was also influenced by content terms used by participants in searching. Participants varied greatly in their search performance. Clinical Queries filtered searches returned more high-quality studies, though the retrieval of relevant articles was only statistically different between the groups for diagnosis questions. Retrieving clinically important research studies from Medline is a challenging task for physicians. Methodological search filters can improve search retrieval.

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

    PubMed Central

    Schjønning Nielsen, Malene; Simonsen, Anja Hviid; Siersma, Volkert; Hasselbalch, Steen Gregers; Høgh, Peter

    2016-01-01

    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 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 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, regardless of etiology. PMID:27843444

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

    PubMed

    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%).

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

    PubMed

    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%.

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

    PubMed

    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.

  11. Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

    PubMed Central

    Daniels, Leigh Anne; Davis, Stephanie D.; Zariwala, Maimoona A.; Leigh, Margaret W.

    2013-01-01

    Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately 50% of cases. The estimated incidence of PCD is approximately 1 per 15,000 births, but the prevalence of PCD is difficult to determine, primarily because of limitations in diagnostic methods that focus on testing ciliary ultrastructure and function. Diagnostic capabilities have recently benefitted from (1) documentation of low nasal nitric oxide production in PCD and (2) discovery of biallelic mutations in multiple PCD-causing genes. The use of these complementary diagnostic approaches shows that at least 30% of patients with PCD have normal ciliary ultrastructure. More accurate identification of patients with PCD has also allowed definition of a strong clinical phenotype, which includes neonatal respiratory distress in >80% of cases, daily nasal congestion and wet cough starting soon after birth, and early development of recurrent/chronic middle-ear and sinus disease. Recent studies, using advanced imaging and pulmonary physiologic assessments, clearly demonstrate early onset of lung disease in PCD, with abnormal air flow mechanics by age 6–8 years that is similar to cystic fibrosis, and age-dependent onset of bronchiectasis. The treatment of PCD is not standardized, and there are no validated PCD-specific therapies. Most patients with PCD receive suboptimal management, which should include airway clearance, regular surveillance of pulmonary function and respiratory microbiology, and use of antibiotics targeted to pathogens. The PCD Foundation is developing a network of clinical centers, which should improve diagnosis and management of PCD. PMID:23796196

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

    PubMed

    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. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  13. An Imaging Diagnostic Protocol in Children with Clinically Suspected Acute Appendicitis.

    PubMed

    Epifanio, Matias; Antonio de Medeiros Lima, Marco; Corrêa, Patricia; Baldisserotto, Matteo

    2016-05-01

    The objective of the present study is to evaluate a new diagnostic strategy using clinical findings followed by ultrasound (US) and, in selected cases, MRI. This study included 166 children presenting signs and symptoms suggesting acute appendicitis. Cases classified as suggesting appendicitis according to clinical exams had to be referred to surgery, whereas the other cases were discharged. Unclear cases were evaluated using US. If the US results were considered inconclusive, patients underwent MRI. Of the 166 patients, 78 (47%) had acute appendicitis and 88 (53%) had other diseases. The strategy under study had a sensitivity of 96 per cent, specificity of 100 per cent, positive predictive value of 100 per cent, negative predictive value of 97 per cent, and accuracy of 98 per cent. Eight patients remained undiagnosed and underwent MRI. After MRI two girls presented normal appendixes and were discharged. One girl had an enlarged appendix on MRI and appendicitis could have been confirmed by surgery. In the other five patients, no other sign of the disease was detected by MRI such as an inflammatory mass, free fluid or an abscess in the right iliac fossa. All of them were discharged after clinical observation. In the vast majority of cases the correct diagnosis was reached by clinical and US examinations. When clinical assessment and US findings were inconclusive, MRI was useful to detect normal and abnormal appendixes and valuable to rule out other abdominal pathologies that mimic appendicitis.

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

    PubMed Central

    Mordaunt, Dylan; Gabbett, Michael; Waugh, Melanie; O’Brien, Karen; Heussler, Helen

    2014-01-01

    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. PMID:27417464

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

    PubMed Central

    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

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

    PubMed Central

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

    2015-01-01

    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. PMID:25946155

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

    PubMed

    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.

  18. Preeclampsia – Aetiology, Current Diagnostics and Clinical Management, New Therapy Options and Future Perspectives

    PubMed Central

    Tallarek, A.-C.; Huppertz, B.; Stepan, H.

    2012-01-01

    Preeclampsia is a multisystem disease for which the exact causes have not yet been sufficiently clarified. However, in the past few years it has become clear that a placental imbalance between angiogenic and anti-angiogenic proteins is the decisive pathogenetic factor for the occurrence of preeclampsia. With the possibility to measure these angiogenic factors (sFlt-1/PlGF ratio) in maternal blood full new diagnostic possibilities have been opened that enable the certain diagnosis or exclusion of the diseases as well as a short-term prognosis to be made. In secondary prevention the current data situation for ASA confirms a moderate but measurable utility. The management concept depends on gestational age. In the case of early clinical manifestations (< 34th week of pregnancy) the clinical management in a perinatal centre remains unchanged with foeto-maternal monitoring and induction of pulmonary maturation, symptomatic therapy under careful blood pressure lowering and determination of the optimal delivery time. A balance must be made here between foetal immaturity and maternal risks upon prolongations. The pathomechanism of anti-angiogenic overload with sFlt-1 provides a starting point for first therapeutic interventions. The present article gives an overview of current diagnostic options and presents possible future therapeutic perspectives for discussion. PMID:26640284

  19. Translating biomedical science into clinical practice: Molecular diagnostics and the determination of malignancy.

    PubMed

    Cox, Helen; Webster, Andrew

    2013-07-01

    The identification of new biomarkers that help understand the epidemiological basis of patterns of malignancy at a population level is reshaping conceptions of health, disease and normality. These developments create new challenges for clinicians and the ways in which they work with scientists and engage with patients. Bioclinical collectives, an assemblage of laboratory and clinical evidence and practice, comprise different expert groups of scientists and clinicians who typically enact their expertise through boundary work to establish some degree of jurisdictional authority over their practice. Serra (2010) has argued for the existence of 'medical technocracies' wherein each speciality involved defines the boundaries between themselves in daily medical practices and use technology as a resource to construct their particular strategies. In this article we explore these two aspects of biomedical expertise - the collective and the boundaried domains of diagnostic practice (especially in regard to clinical utility) - to understand how haematological malignancy and disease are perceived and managed. The empirical data for the article are based on extensive primary research in hospitals based in the north of the UK, and among clinicians and laboratory scientists working in haematological malignancies. Our chosen field of inquiry - a haematological malignancy diagnostic service in the UK - is a particularly rich site through which to explore these twin aspects.

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

    PubMed

    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.

  1. [A proposal for diagnostic and clinical assessment criteria for Alzheimer's disease].

    PubMed

    Shoji, Mikio; Kuwano, Ryozo; Asada, Takasi; Imagawa, Masaki; Higuchi, Susumu; Urakami, Katsuya; Arai, Hiroyuki; Ihara, Yasuo

    2005-02-01

    To clarify the risk and associated genes of Alzheimer's disease by genome-wide screening, a Japanese study group was organized in 2000 under Yasuo Ihara, Tokyo University, supported by a Grant-in-Aid for Science Research on Priority Areas (C) -Advanced Brain Science Project from Ministry of Education, Culture, Sports, Science and Technology, Japan. This is the first Japanese consortium study under permission of the ethical committees of the enrolled institutes based on the ethics guidelines for human genome/gene analysis research, Ministry of Education, Culture, Sports, Science and Technology Ministry of Health, Labor and Welfare Ministry of Economy, Trade and Industry. In this project, 2,000 genome samples from patients with Alzheimer's disease, 2,000 control subjects, and 200 siblings affected with Alzheimer's disease are collected and analyzed. For this purpose, it is necessary to analyze samples from accurately diagnosed Alzheimer patients and controls using standard criteria for diagnosis and neuropsychological evaluation, which have been confirmed by an evidence-based studying a Japanese population. Here, we propose criteria for the diagnosis and clinical assessment of Alzheimer's disease. This proposal consists of a definition of Alzheimer's disease based on recent advances in research, diagnostic criteria based on DSM-IV, NINCDS-ADRDA and ICD-10, exclusion criteria for other dementia disorders, routine and detailed tests for neuropsychological and laboratory evaluations, criteria for neuroimaging and biomarkers, definitive diagnostic criteria and classification of clinical subtypes.

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

    PubMed

    Gomes, Mafalda; Matias, Alexandra; Macedo, Filipe

    2015-12-01

    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.

  3. Clinical correlates of age at onset distribution in bipolar disorder: a comparison between diagnostic subgroups.

    PubMed

    Manchia, Mirko; Maina, Giuseppe; Carpiniello, Bernardo; Pinna, Federica; Steardo, Luca; D'Ambrosio, Virginia; Salvi, Virginio; Alda, Martin; Tortorella, Alfonso; Albert, Umberto

    2017-12-01

    Admixture analysis of age at onset (AAO) has helped delineating the clinical profile of early onset (EO) bipolar disorder (BD). However, there is scarce evidence comparing the distributional properties of AAO as well as the clinical features of EO BD type 1 (BD1) with EO BD type 2 (BD2). To this end, we studied 515 BD patients (224 BD1, 279 BD2, and 12 BD not otherwise specified [NOS]) diagnosed according to DSM-IV-TR criteria. AAO was defined as the first reliably diagnosed hypo/manic or depressive episode according to diagnostic criteria. We used normal distribution mixture analysis to identify subgroups of patients according to AAO. Models were chosen according to the Schwarz's Bayesian information criteria (BIC). Clinical correlates of EO were analysed using univariate tests and multivariate logistic regression models. A two normal components model best fitted the observed distribution of AAO in BD1 (BIC = -1599.3), BD2 (BIC = -2158.4), and in the whole sample (BIC = -3854.9). A higher number of EO BD2 patients had a depression-(hypo)mania-free interval (DMI) course, while a higher rate of (hypo)mania-depression-free interval (MDI) course was found in EO BD1. EO BD2 had also a higher rate of comorbidity with alcohol dependence compared to EO BD1. The latter finding was confirmed by multivariate logistic regression analysis. In conclusion, both BD1 and BD2 had bimodal AAO distributions, but EO subgroups had a diagnostic-specific clinical delineation.

  4. The clinical diagnostic reasoning process determining the use of endoscopy in diagnosing peptic ulcer disease.

    PubMed

    Gul, Naheed; Quadri, Mujtaba

    2011-09-01

    To evaluate the clinical diagnostic reasoning process as a tool to decrease the number of unnecessary endoscopies for diagnosing peptic ulcer disease. tudy Cross-sectional KAP study. Shifa College of Medicine, Islamabad, from April to August 2010. Two hundred doctors were assessed with three common clinical scenarios of low, intermediate and high pre-test probability for peptic ulcer disease using a questionnaire. The differences between the reference estimates and the respondents' estimates of pre-test and post test probability were used for assessing the ability of estimating the pretest probability and the post test probability of the disease. Doctors were also enquired about the cost-effectiveness and safety of endoscopy. Consecutive sampling technique was used and the data was analyzed using SPSS version 16. In the low pre-test probability settings, overestimation of the disease probability suggested the doctors' inability to rule out the disease. The post test probabilities were similarly overestimated. In intermediate pre-test probability settings, both over and under estimation of probabilities were noticed. In high pre-test probability setting, there was no significant difference in the reference and the responders' intuitive estimates of post test probability. Doctors were more likely to consider ordering the test as the disease probability increased. Most respondents were of the opinion that endoscopy is not a cost-effective procedure and may be associated with a potential harm. Improvement is needed in doctors' diagnostic ability by more emphasis on clinical decision-making and application of bayesian probabilistic thinking to real clinical situations.

  5. Choosing wisely in Allergology: a Slow Medicine approach to the discipline promoted by the Italian Society of Allergy, Asthma and Clinical Immunology (SIAAIC).

    PubMed

    Heffler, Enrico; Landi, Massimo; Quadrino, Silvana; Incorvaia, Cristoforo; Pizzimenti, Stefano; Vernero, Sandra; Crimi, Nunzio; Rolla, Giovanni; Canonica, Giorgio Walter

    2015-01-01

    One of the main problem health care systems are facis is the mis-use and over-use of medical resources (including useless exams, surgical interventions, medical treatments, screening procedures…) which may lead to high health care related costs without increased patients' benefit and possible harm to the patients themselves. The "Choosing wisely" campaign, in Italy denominated "Doing more does not mean doing better", tries to educate doctors and citizens at a correct use of medical resources. the Italian Society of Allergy, Asthma and Clinical Immunology (SIAAIC) adhered to the "Doing more does not mean doing better" campaing and made a list of the 5 allergological procedures with the highest evidence of inappropriateness. the 5 recommendations were: "Do not perform allergy tests for drugs (including anhestetics) and/or foods when there are neither clinical history nor symptoms suggestive of hypersensitivity reactions"; "Do not perform the so-called "food intolerance tests" (apart from those which are validated for suspect celiac disease or lactose enzymatic intolerance)"; "Do not perform serological allergy tests (i.e.: total IgE, specific IgE, ISAC) as first-line tests or as "screening" assays"; "Do not treat patients sensitized to allergens or aptens if there is not a clear correlation between exposure to that specific allergen/apten and symptoms suggestive of allergic reaction"; "Do not diagnose asthma without having performed lung function tests". An important role scientific societies should play is to advise on correct diagnostic and therapeutical pathways. For this reason SIAAIC decided to adhere to the Slow Medicine Italy campaign "Doing more does not mean doing better" with the aim of warning the scientific community and the citizens/patients about some allergological procedures, which, when performed in the wrong clinical setting, may be not only useless, but unnecessarily expensive and even harmful for patients' health.

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

    PubMed

    Moon, Chang Mo; Jung, Sung-Ae; Kim, Seong-Eun; Song, Hyun Joo; Jung, Yunho; Ye, Byong Duk; Cheon, Jae Hee; Kim, You Sun; Kim, Young-Ho; Kim, Joo Sung; Han, Dong Soo

    2015-01-01

    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.

  7. The Influence of Clinical Decision Support on Diagnostic Accuracy in Nurse Practitioners.

    PubMed

    Vetter, Mary Jo

    2015-12-01

    Clinical decision support systems (CDSSs) at the point of care are evidence-based interventions that have demonstrated incremental positive impact on quality of healthcare delivery over the past two decades. Existing best practices inform strategies to promote adoption and achievement of targeted outcomes. The purpose of this improvement project was to conduct a pilot implementation to understand the contextual factors and readiness for dissemination of a newly acquired electronic CDSS by evaluating its influence on diagnostic accuracy in nurse practitioners (NPs) functioning in a community health setting. The specific aims of this project were to measure and compare diagnostic accuracy in a pilot group before and after CDSS use, educate clinicians about the system and pilot its use, and then leverage the experience to design the practice-wide CDSS dissemination strategy. The project engaged a subset of NPs from a home-based primary care practice and other organizational stakeholders who provided tangible support and necessary resources for successful adoption of this innovation in practice. A structured conceptual model of Evidence-Based Practice Improvement enhanced with elements of the Promoting Action on Research Implementation in Health Sciences framework was used to guide the development, implementation and evaluation of this practice improvement initiative. A group of seven NP representatives of the practice participated in the project. Data collection was composed of small tests of change (plan-do-study-act) cycles at the local practice level, measuring achievement of improvement of the chosen outcome of correctness of medical diagnosis evidenced by appropriate substantiating clinical documentation. In this home visiting primary care practice setting, use of a CDSS by NPs achieved eventual improvement in diagnostic accuracy and clinical documentation, as demonstrated on chart audit, though the improvement was not sustained over time. The pilot findings

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

    PubMed

    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

  9. Evolving Identification of Blood Cells Associated with Clinically Isolated Syndrome: Importance of Time since Clinical Presentation and Diagnostic MRI

    PubMed Central

    Trend, Stephanie; Jones, Anderson P.; Geldenhuys, Sian; Byrne, Scott N.; Fabis-Pedrini, Marzena J.; Nolan, David; Booth, David R.; Carroll, William M.; Lucas, Robyn M.; Kermode, Allan G.; Hart, Prue H.

    2017-01-01

    It is not clear how the profile of immune cells in peripheral blood differs between patients with clinically isolated syndrome (CIS) and healthy controls (HC). This study aimed to identify a CIS peripheral blood signature that may provide clues for potential immunomodulatory approaches early in disease. Peripheral blood mononuclear cells (PBMCs) were collected from 18 people with CIS, 19 HC and 13 individuals with other demyelinating conditions (ODC) including multiple sclerosis (MS). Individuals with CIS separated into two groups, namely those with early (≤14 days post-diagnostic magnetic resonance imaging (MRI); n = 6) and late (≥27 days; n = 12) blood sampling. Transitional B cells were increased in the blood of CIS patients independently of when blood was taken. However, there were two time-dependent effects found in the late CIS group relative to HC, including decreased CD56bright NK cells, which correlated significantly with time since MRI, and increased CD141+ myeloid dendritic cell (mDC2) frequencies. Higher CD1c+ B cells and lower non-classical monocyte frequencies were characteristic of more recent demyelinating disease activity (ODC and early CIS). Analysing cell populations by time since symptoms (subjective) and diagnostic MRI (objective) may contribute to understanding CIS. PMID:28617321

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

    PubMed

    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.

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

    PubMed

    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

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

    NASA Astrophysics Data System (ADS)

    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.

  13. A clinical database as a component of a diagnostic hematology workstation.

    PubMed Central

    Diamond, L. W.; Mishka, V. G.; Seal, A. H.; Nguyen, D. T.

    1994-01-01

    A clinical database was designed as part of a comprehensive workstation for diagnostic laboratory hematology. The database stores coded findings pertinent to hematologic disorders including inherited abnormalities, previous surgery, malignancies, current therapy, and laboratory test results. The workstation includes knowledge-based systems for peripheral blood analysis, flow cytometry studies, and bone marrow morphology. The peripheral blood system renders an interpretive report based on data from a complete blood count with manual review of a blood smear by a technologist. The flow cytometry module interprets the immunophenotyping and DNA content results, and correlates them with the clinical findings and the peripheral blood data. The bone marrow system bases its report on all of the available information including the morphologic review of the bone marrow specimen by a physician, the peripheral blood data, immunophenotype, and clinical/laboratory findings. Before generating an interpretive report, each of the knowledge-based systems automatically searches the clinical database for specific information pertinent to the findings in the case. Since the workstation must function in situations where access to distributed databases is not feasible or not yet practical, a data entry module with a graphical user interface has been created. PMID:7949938

  14. The vector homology problem in diagnostic nucleic acid hybridization of clinical specimens.

    PubMed Central

    Ambinder, R F; Charache, P; Staal, S; Wright, P; Forman, M; Hayward, S D; Hayward, G S

    1986-01-01

    Nucleic acid hybridization techniques using cloned probes are finding application in assays of clinical specimens in research and diagnostic laboratories. The probes that we and others have used are recombinant plasmids composed of viral inserts and bacterial plasmid vectors such as pBR322. We suspected that there was material homologous to pBR322 present in many clinical samples. because hybridization occurred in samples which lacked evidence of virus by other techniques. If the presence of this vector-homologous material was unrecognized, hybridization in the test sample might erroneously be interpreted as indicating the presence of viral sequences. In this paper we demonstrate specific hybridization of labeled pBR322 DNA with DNA from various clinical samples. Evidence is presented that nonspecific probe trapping could not account for this phenomenon. In mixing experiments, it is shown that contamination of clinical samples with bacteria would explain such a result. Approaches tested to circumvent this problem included the use of isolated insert probes, alternate cloning vectors, and cold competitor pBR322 DNA in prehybridization and hybridization mixes. None proved entirely satisfactory. We therefore emphasize that it is essential that all hybridization detection systems use a control probe of the vector alone in order to demonstrate the absence of material with vector homology in the specimen tested. Images PMID:3013928

  15. Early-onset psychoses: comparison of clinical features and adult outcome in 3 diagnostic groups.

    PubMed

    Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

    2009-09-01

    A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a 3-year follow-up in all 41, and at least after 5 years in 36 patients. Symptoms were rated on the basis of the Positive and Negative Syndrome Scale (PANSS), integrating items from the Brief Psychiatric Rating Scale (BPRS) and the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS-PL). The Children Global Assessment Scale (C-GAS) and the Global Assessment Scale (GAF) were used to evaluate global functioning. Significant differences in clinical features were found in the three diagnostic groups as regards several parameters, some present on one and not on other rating scales, underscoring the insufficiency of a single scale for accurate analysis of the features of a psychotic disorder. At onset, a comparison using the simple presence/absence of symptoms showed scant differences among groups, while differences emerged if symptom severity was included in the comparison. Functioning at 3- and 5-year follow-ups showed a significantly better outcome in the BPP group and more substantial deterioration, with similar evolution, in the SPh and SA groups. The integration of several rating scales differentiated between diagnostic groups more effectively. The similar adult functioning outcome in the SPh and SA groups showed how difficult it is to clearly separate these two disorders.

  16. Development of a fiber-based Raman probe for clinical diagnostics

    NASA Astrophysics Data System (ADS)

    Latka, Ines; Dochow, Sebastian; Krafft, Christoph; Dietzek, Benjamin; Bartelt, Hartmut; Popp, Jürgen

    2011-07-01

    A basic problem intrinsic to many clinical diagnostic procedures as well as minimally invasive surgeries is the online invivo classification of tissue. Associated with this problem is the task to determine the boundaries between tissue sections of various degrees of disease progression, which cannot be identified easily. This problem is partly founded in the imaging modalities conventionally used, i.e., white-light endoscopy or fluorescence-based endoscopic imaging. These techniques allow for extracting of only a limited parameter set for judging the physiological or pathological state of tissue. Furthermore, fluorescence-based endoscopy relies on the administration of external labels, which principally disturbs the native tissue. These problems can be circumvented using Raman microspectroscopy as a diagnostic tool. Raman microscopy allows to record vibrational spectra at each sampling point. Therefore the molecular fingerprint of the sample can be deciphered with spatial resolution. It has been shown that Raman spectroscopy in combination with advanced statistical methods can be used to identify and grade tissue samples. However, the conventional approach of judging excised tissue sections by Raman microscopy does not present an approach which can be readily used in the clinics. Here we present our recent progress towards designing a fiber-based Raman probe, which - in perspective - might be incorporated into the working channel of a surgical endoscope. Thereby, it is anticipated to contribute to the clinical routine. We will review the general design principle of such a device and the specific design strategy for our Raman probe in concert with comparative measurements employing a set of home-built and commercially-available devices.

  17. Tears of popliteomeniscal fascicles, diagnostic and clinical implications. A review of the evidence.

    PubMed

    Papalia, R; Simonetta, R; Di Vico, G; Torre, G; Saccone, L; Espregueira-Mendes, J; Denaro, V

    2016-01-01

    Postero-lateral corner of the knee is composed of several structures including the popliteo-meniscal fascicles (PMFs). These fibrous structures form a stable ligamentous complex around the popliteus tendon, which stabilize the lateral meniscus, increasing the strength of postero-lateral corner. Studies were retrieved through an electronic search of CINAHL, EMBASE, and Pub-Med, until May 2016. Studies in English, Italian, French, and Spanish were considered for inclusion. Randomized controlled trials, prospective and retrospective comparative studies, case series, and case reports were included. Studies eligible for inclusion concerned PMFs anatomy, biomechanics, diagnostic assessment of PMFs tears and clinical options for tears management. Thirteen studies were included in this review. There were: 7 case series, 4 case reports and 3 anatomical studies. Through anatomic dissection, two or three PMFs (antero-inferior fascicle, aiPMF; postero-superior fascicle, psPMF; postero-inferior fascicle, piPMF) can be indentified and isolated. Evaluation through MRI can be a useful diagnostic tool in detecting PMFs tears, especially using proton density (PD) sequences. The biomechanical analysis assessed that lateral meniscus (LM) motion is directly related with PMFs integrity and increased with section of one or both the fascicles. The clinical studies clearly state that a snapping syndrome, associated with lateral knee pain, can develop when one or both PMFs are torn. The three PMFs described are considered as relevant components of the popliteal hiatus, in the posterolateral aspect of the knee. MRI evaluation can detect these fibrous fascicles with good sensitivity. More studies with larger samples would be needed for a clear comprehension of PMFs function and clinical management of PMFs tears, especially with large case series and modern biomechanical testing.

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

    PubMed

    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

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

    PubMed Central

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

    2015-01-01

    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

  20. Diagnostic value and clinical significance of stress hormones in patients with tinnitus.

    PubMed

    Kim, Dong-Kee; Chung, Dae Young; Bae, Seung Chun; Park, Kyoung-Ho; Yeo, Sang Won; Park, Shi-Nae

    2014-11-01

    Tinnitus has been found to be modulated by stress and is also closely related to the emotional state and the limbic system. In the present study, we evaluated the diagnostic and clinical values of several stress hormones in a large number of tinnitus patients. This study included 344 patients with sensorineural tinnitus and 87 normal controls. A questionnaire about tinnitus was administered to the participants, and blood levels of norepinephrine (NE), epinephrine (Epi), a metabolite of serotonin (5-hydroxyindoleacetic acid, 5-HIAA) and cortisol were compared between groups. In results, the mean values of Beck's depression inventory (BDI), Brief Encounter Psychosocial Instrument (BEPSI), NE, and 5-HIAA levels were higher in the tinnitus group, although there was no statistical significance. But, the proportion of participants with elevated 5-HIAA was significantly higher in the tinnitus group (21.8 vs. 8.0 %, P < 0.05), and the 5-HIAA level significantly correlated with the duration of tinnitus, NE and cortisol. Elevated stress-related hormones, as well as hearing loss, BDI, and BEPSI were the most related factors with tinnitus in multiple regression test with age adjustment. However, levels of stress-related hormones did not correlate with subjective measures including BDI, BEPSI and severity of tinnitus. In conclusion, blood stress hormones seemed to have some diagnostic and clinical value in patients with tinnitus, and serotonin is supposed to be the most important hormone in tinnitus. Further studies about the values of stress and stress hormones in tinnitus patients may lead to new approaches regarding diagnosis and clinical management of the disease.

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

    PubMed

    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

  2. Anticipatory guidance on discipline.

    PubMed

    Christophersen, E R

    1986-08-01

    Many parents of young children want suggestions on discipline. This article provides some basic guidelines. Parents should provide their children with much brief, nonverbal, physical contact and refrain from spanking, yelling, and verbal reprimands.

  3. Manned systems technology discipline

    NASA Technical Reports Server (NTRS)

    Bretoi, Remus

    1990-01-01

    Viewgraphs on manned systems technology discipline for Space Station Freedom are presented. Topics covered include: crew-systems interfaces and interactions; crew training; on-board systems maintenance and support; habitability and environment; and computational human factors.

  4. Propulsion technology discipline

    NASA Technical Reports Server (NTRS)

    Jones, Lee W.

    1990-01-01

    Viewgraphs on propulsion technology discipline for Space Station Freedom are presented. Topics covered include: water electrolysis O2/H2 system; hydrazine system advancements; common technology; fluids disposal; and storable bipropellant system.

  5. Extravehicular activity technology discipline

    NASA Technical Reports Server (NTRS)

    Webbon, Bruce W.

    1990-01-01

    Viewgraphs on extravehicular activity technology discipline for Space Station Freedom are presented. Topics covered include: extravehicular mobility unit; airlock and EMU support equipment; tools, mobility aids, and workstations; and telerobotic work aids interfaces.

  6. Clinical presentations and diagnostic work-up in sarcoidosis: a series of Turkish cases (clinics and diagnosis of sarcoidosis).

    PubMed

    Kıter, Göksel; Müsellim, Benan; Cetinkaya, Erdoğan; Türker, Hatice; Kunt Uzaslan, A Esra; Yentürk, Esin; Uzun, Oğuz; Sağlam, Leyla; Özdemir Kumbasar, Özlem; Celik, Gökhan; Okumuş, Gülfer; Arbak, Peri Meram; Altıay, Gündeniz; Tabak, Levent; Sakar Coşkun, Ayşın; Erturan, Serdar; Türktaş, Haluk; Yalnız, Enver; Akkoçlu, Atilla; Öğüş, Candan; Doğan, Ömer Tamer; Özkan, Metin; Özkan, Serir; Uzel, Fatma Işıl; Öngen, Gül

    2011-01-01

    Sarcoidosis is an idiopathic granulomatous disease. It usually affects the lung. The diagnosis may be problematic since the known causes of granulomatous inflammation must be excluded. This multicenter study aimed to evaluate the clinical presentations and diagnostic approaches of sarcoidosis. The study protocol was sent via internet, and the participants were asked to send the information (clinical, radiological and diagnostic) on newly diagnosed sarcoidosis cases. 293 patients were enrolled within two years. Pulmonary symptoms were found in 73.3% of the patients, and cough was the most common one (53.2%), followed by dyspnea (40.3%). Constitutional symptoms were occured in half of the patients. The most common one was fatigue (38.6%). The most common physical sign was eritema nodosum (17.1%). The most common chest radiograhical sign was bilateral hilar lymphadenomegaly (78.8%). Staging according to chest X-ray has revealed that most of the patients were in Stage I and Stage II (51.9% and 31.7%, respectively). Sarcoidosis was confirmed histopathologically in 265 (90.4%) patients. Although one-third of the bronchoscopy was revealed normal, mucosal hyperemi (19.8%) and external compression of the bronchial wall (16.8%) were common abnormal findings. The 100% success rate was obtained in mediastinoscopy among the frequently used sampling methods. Transbronchial biopsy was the most frequently used method with 48.8% success rate. Considering sarcoidosis with its most common and also rare findings in the differential diagnosis, organizing the related procedures according to the possibly effected areas, and the expertise of the team would favour multimodality diagnosis.

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

    ERIC Educational Resources Information Center

    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)…

  8. The Impact of a Faculty Development Program: Evaluation Based on the Self-Assessment of Medical Educators from Preclinical and Clinical Disciplines

    ERIC Educational Resources Information Center

    Sarikaya, Ozlem; Kalaca, Sibel; Yeen, Berrak C.; Cali, Sanda

    2010-01-01

    Self-assessment tools have previously been used to assess the impact of a faculty development program on the teaching skills of medical educators. In this study, we aimed to assess the impact of a faculty development program on the teaching performances of faculty members in relation to their medical disciplines and academic positions. A…

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

    PubMed

    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 < 0.05) from the other groups regarding the BDI, 15D, and MHI-5 scores as well as the number of Axis I diagnoses. Patients with complex/severe 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

  10. Evaluation of recombinase polymerase amplification for detection of begomoviruses by plant diagnostic clinics.

    PubMed

    Londoño, Maria A; Harmon, Carrie L; Polston, Jane E

    2016-03-22

    Plant viruses in the genus Begomovirus, family Geminiviridae often cause substantial crop losses. These viruses have been emerging in many locations throughout the tropics and subtropics. Like many plant viruses, they are often not recognized by plant diagnostic clinics due in large part to the lack of rapid and cost effective assays. An isothermal amplification assay, Recombinase polymerase amplification (RPA), was evaluated for its ability to detect three begomoviruses and for its suitability for use in plant diagnostic clinics. Methods for DNA extraction and separation of amplicons from proteins used in the assay were modified and compared to RPA manufacturer's protocols. The modified RPA assays were compared to PCR assays for sensitivity, use in downstream applications, cost, and speed. Recombinase polymerase amplification (RPA) assays for the detection of Bean golden yellow mosaic virus, Tomato mottle virus and Tomato yellow leaf curl virus (TYLCV) were specific, only amplifying the target viruses in three different host species. RPA was able to detect the target virus when the template was in a crude extract generated using a simple inexpensive extraction method, while PCR was not. Separation of RPA-generated amplicons from DNA-binding proteins could be accomplished by several methods, all of which were faster and less expensive than that recommended by the manufacturer. Use of these modifications resulted in an RPA assay that was faster than PCR but with a similar reagent cost. This modified RPA was the more cost effective assay when labor is added to the cost since RPA can be performed much faster than PCR. RPA had a sensitivity approximate to that of ELISA when crude extract was used as template. RPA-generated amplicons could be used in downstream applications (TA cloning, digestion with a restriction endonuclease, direct sequencing) similar to PCR but unlike some other isothermal reactions. RPA could prove useful for the cost effective detection of plant

  11. Internal Amplification Control for a Cryptosporidium Diagnostic PCR: Construction and Clinical Evaluation.

    PubMed

    Hawash, Yousry; Ghonaim, M M; Al-Hazmi, Ayman S

    2015-04-01

    Various constituents in clinical specimens, particularly feces, can inhibit the PCR assay and lead to false-negative results. To ensure that negative results of a diagnostic PCR assay are true, it should be properly monitored by an inhibition control. In this study, a cloning vector harboring a modified target DNA sequence (≈375 bp) was constructed to be used as a competitive internal amplification control (IAC) for a conventional PCR assay that detects ≈550 bp of the Cryptosporidium oocyst wall protein (COWP) gene sequence in human feces. Modification of the native PCR target was carried out using a new approach comprising inverse PCR and restriction digestion techniques. IAC was included in the assay, with the estimated optimum concentration of 1 fg per reaction, as duplex PCR. When applied on fecal samples spiked with variable oocysts counts, ≈2 oocysts were theoretically enough for detection. When applied on 25 Cryptosporidium-positive fecal samples of various infection intensities, both targets were clearly detected with minimal competition noticed in 2-3 samples. Importantly, both the analytical and the diagnostic sensitivities of the PCR assay were not altered with integration of IAC into the reactions. When tried on 180 randomly collected fecal samples, 159 were Cryptosporidium-negatives. Although the native target DNA was absent, the IAC amplicon was obviously detected on gel of all the Cryptosporidium-negative samples. These results imply that running of the diagnostic PCR, inspired with the previously developed DNA extraction protocol and the constructed IAC, represents a useful tool for Cryptosporidium detection in human feces.

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

    PubMed Central

    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. Clinical implications of referral bias in the diagnostic performance of exercise testing for coronary artery disease.

    PubMed

    Ladapo, Joseph A; Blecker, Saul; Elashoff, Michael R; Federspiel, Jerome J; Vieira, Dorice L; Sharma, Gaurav; Monane, Mark; Rosenberg, Steven; Phelps, Charles E; Douglas, Pamela S

    2013-12-13

    Exercise testing with echocardiography or myocardial perfusion imaging is widely used to risk-stratify patients with suspected coronary artery disease. However, reports of diagnostic performance rarely adjust for referral bias, and this practice may adversely influence patient care. Therefore, we evaluated the potential impact of referral bias on diagnostic effectiveness and clinical decision-making. Searching PubMed and EMBASE (1990-2012), 2 investigators independently evaluated eligibility and abstracted data on study characteristics and referral patterns. Diagnostic performance reported in 4 previously published meta-analyses of exercise echocardiography and myocardial perfusion imaging was adjusted using pooled referral rates and Bayesian methods. Twenty-one studies reported referral patterns in 49 006 patients (mean age 60.7 years, 39.6% women, and 0.8% prior history of myocardial infarction). Catheterization referral rates after normal and abnormal exercise tests were 4.0% (95% CI, 2.9% to 5.0%) and 42.5% (36.2% to 48.9%), respectively, with odds ratio for referral after an abnormal test of 14.6 (10.7 to 19.9). After adjustment for referral, exercise echocardiography sensitivity fell from 84% (80% to 89%) to 34% (27% to 41%), and specificity rose from 77% (69% to 86%) to 99% (99% to 100%). Similarly, exercise myocardial perfusion imaging sensitivity fell from 85% (81% to 88%) to 38% (31% to 44%), and specificity rose from 69% (61% to 78%) to 99% (99% to 100%). Summary receiver operating curve analysis demonstrated only modest changes in overall discriminatory power but adjusting for referral increased positive-predictive value and reduced negative-predictive value. Exercise echocardiography and myocardial perfusion imaging are considerably less sensitive and more specific for coronary artery disease after adjustment for referral. Given these findings, future work should assess the comparative ability of these and other tests to rule-in versus rule

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

    SciTech Connect

    Bigio, I.J.; Loree, T.R.; Mourant, J.; Shimada, T.; Story-Held, K.; Glickman, R.D.; Conn, R.

    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

    PubMed Central

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

    PubMed

    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; Lee, Chyi-Chia Richard; 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; Kopp, Jeffrey B; Bishop, Rachel J; Holland, Steven M; Olivier, Kenneth N; Fleisher, Thomas A; Heller, Theo; Winer, Karen K; Lionakis, Michail S

    2016-08-18

    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 CD21(lo)CD38(lo) 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

  17. [3-Tesla MRI vs. arthroscopy for diagnostics of degenerative knee cartilage diseases: preliminary clinical results].

    PubMed

    von Engelhardt, L V; Schmitz, A; Burian, B; Pennekamp, P H; Schild, H H; Kraft, C N; von Falkenhausen, M

    2008-09-01

    The literature contains only a few studies investigating the magnetic resonance imaging (MRI) diagnostics of degenerative cartilage diseases. Studies on MRI diagnostics of the cartilage using field strengths of 3-Tesla demonstrate promising results. To assess the value of 3-Tesla MRI for decision making regarding conservative or operative treatment possibilities, this study focused on patients with degenerative cartilage diseases. Thirty-two patients with chronic knee pain, a minimum age of 40 years, a negative history of trauma, and at least grade II degenerative cartilage disease were included. Cartilage abnormalities detected at preoperative 3-Tesla MRI (axial/koronar/sagittal PD-TSE-SPAIR, axial/sagittal 3D-T1-FFE, axial T2-FFE; Intera 3.0T, Philips Medical Systems) were classified (grades I-IV) and compared with arthroscopic findings. Thirty-six percent (70/192) of the examined cartilage surfaces demonstrated no agreement between MRI and arthroscopic grading. In most of these cases, grades II and III cartilage lesions were confounded with each other. Regarding the positive predictive values, the probability that a positive finding in MRI would be exactly confirmed by arthroscopy was 39-72%. In contrast, specificities and negative predictive values of different grades of cartilage diseases were 85-95%. Regarding the high specificities and negative predictive values, 3-Tesla MRI is a reliable method for excluding even slight cartilage degeneration. In summary, in degenerative cartilage diseases, 3-Tesla MRI is a supportive, noninvasive method for clinical decision making regarding conservative or operative treatment possibilities. However, the value of diagnostic arthroscopy for a definitive assessment of the articular surfaces and for therapeutic planning currently cannot be replaced by 3-Tesla MRI. This applies especially to treatment options in which a differentiation between grade II and III cartilage lesions is of interest.

  18. Clinical Implications of Referral Bias in the Diagnostic Performance of Exercise Testing for Coronary Artery Disease

    PubMed Central

    Ladapo, Joseph A.; Blecker, Saul; Elashoff, Michael R.; Federspiel, Jerome J.; Vieira, Dorice L.; Sharma, Gaurav; Monane, Mark; Rosenberg, Steven; Phelps, Charles E.; Douglas, Pamela S.

    2013-01-01

    Background Exercise testing with echocardiography or myocardial perfusion imaging is widely used to risk‐stratify patients with suspected coronary artery disease. However, reports of diagnostic performance rarely adjust for referral bias, and this practice may adversely influence patient care. Therefore, we evaluated the potential impact of referral bias on diagnostic effectiveness and clinical decision‐making. Methods and Results Searching PubMed and EMBASE (1990–2012), 2 investigators independently evaluated eligibility and abstracted data on study characteristics and referral patterns. Diagnostic performance reported in 4 previously published meta‐analyses of exercise echocardiography and myocardial perfusion imaging was adjusted using pooled referral rates and Bayesian methods. Twenty‐one studies reported referral patterns in 49 006 patients (mean age 60.7 years, 39.6% women, and 0.8% prior history of myocardial infarction). Catheterization referral rates after normal and abnormal exercise tests were 4.0% (95% CI, 2.9% to 5.0%) and 42.5% (36.2% to 48.9%), respectively, with odds ratio for referral after an abnormal test of 14.6 (10.7 to 19.9). After adjustment for referral, exercise echocardiography sensitivity fell from 84% (80% to 89%) to 34% (27% to 41%), and specificity rose from 77% (69% to 86%) to 99% (99% to 100%). Similarly, exercise myocardial perfusion imaging sensitivity fell from 85% (81% to 88%) to 38% (31% to 44%), and specificity rose from 69% (61% to 78%) to 99% (99% to 100%). Summary receiver operating curve analysis demonstrated only modest changes in overall discriminatory power but adjusting for referral increased positive‐predictive value and reduced negative‐predictive value. Conclusions Exercise echocardiography and myocardial perfusion imaging are considerably less sensitive and more specific for coronary artery disease after adjustment for referral. Given these findings, future work should assess the comparative ability of

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

    PubMed

    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; Lekanne Dit Deprez, Ronald; 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; Marjan Weiss, Janneke; van den Wijngaard, Arthur; van Workum, Wilbert; Ijntema, Helger; van der Zwaag, Bert; van IJcken, Wilfred F J; den Dunnen, Johan; Veltman, Joris A; Hennekam, Raoul; Cuppen, Edwin

    2015-09-01

    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, based on genetic testing of nine pre-selected patients with cardiomyopathy. We highlight critical implementation choices, including the specific contributions of laboratory and medical specialists, bioinformaticians and researchers to diagnostic genome care, and how these affect interpretation and reporting of variants. Reported pathogenic mutations were consistent for all but one patient. Of the two centers that were inconsistent in their diagnosis, one reported to have found 'no causal variant', thereby underdiagnosing this patient. The other provided an alternative diagnosis, identifying another variant as causal than the other centers. Ethical and legal analysis showed that informed consent procedures in all centers were generally adequate for diagnostic NGS applications that target a limited set of genes, but not for exome- and genome-based diagnosis. We propose changes to further improve and align these procedures, taking into account the blurring boundary between diagnostics and research, and specific counseling options for exome- and genome-based diagnostics. We conclude that alternative diagnoses may infer a certain level of 'greediness' to come to a positive diagnosis in interpreting sequencing results. Moreover, there is an increasing interdependence of clinic, diagnostics and research departments for comprehensive diagnostic genome care. Therefore, we invite clinical geneticists, physicians, researchers, bioinformatics experts and patients to reconsider their role and position in future diagnostic genome care.

  20. Student Discipline as Discretionary Justice

    ERIC Educational Resources Information Center

    Manley-Casimir, Michael E.

    1971-01-01

    Suggests that individualized justice is a necessary pre-condition to the maintenance of effective student discipline and that the discipline dilemma can be resolved by viewing the administration of student discipline as a problem of discretionary justice. (Author)

  1. Student Discipline as Discretionary Justice

    ERIC Educational Resources Information Center

    Manley-Casimir, Michael E.

    1971-01-01

    Suggests that individualized justice is a necessary pre-condition to the maintenance of effective student discipline and that the discipline dilemma can be resolved by viewing the administration of student discipline as a problem of discretionary justice. (Author)

  2. General equations for optimal selection of diagnostic image acquisition parameters in clinical X-ray imaging.

    PubMed

    Zheng, Xiaoming

    2017-08-18

    The purpose of this work was to examine the effects of relationship functions between diagnostic image quality and radiation dose on the governing equations for image acquisition parameter variations in X-ray imaging. Various equations were derived for the optimal selection of peak kilovoltage (kVp) and exposure parameter (milliAmpere second, mAs) in computed tomography (CT), computed radiography (CR), and direct digital radiography. Logistic, logarithmic, and linear functions were employed to establish the relationship between radiation dose and diagnostic image quality. The radiation dose to the patient, as a function of image acquisition parameters (kVp, mAs) and patient size (d), was used in radiation dose and image quality optimization. Both logistic and logarithmic functions resulted in the same governing equation for optimal selection of image acquisition parameters using a dose efficiency index. For image quality as a linear function of radiation dose, the same governing equation was derived from the linear relationship. The general equations should be used in guiding clinical X-ray imaging through optimal selection of image acquisition parameters. The radiation dose to the patient could be reduced from current levels in medical X-ray imaging.

  3. One-stop diagnostic breast clinics: how often are breast cancers missed?

    PubMed Central

    Britton, P; Duffy, S W; Sinnatamby, R; Wallis, M G; Barter, S; Gaskarth, M; O'Neill, A; Caldas, C; Brenton, J D; Forouhi, P; Wishart, G C

    2009-01-01

    The aim of this study was to estimate the number of patients discharged from a symptomatic breast clinic who subsequently develop breast cancer and to determine how many of these cancers had been ‘missed' at initial assessment. Over a 3-year period, 7004 patients were discharged with a nonmalignant diagnosis. Twenty-nine patients were subsequently diagnosed with breast cancer over the next 36 months. This equates to a symptomatic ‘interval' cancer rate of 4.1 per 1000 women in the 36 months after initial assessment (0.9 per 1000 women within 12 months, 2.6 per 1000 women within 24 months). The lowest sensitivity of initial assessment was seen in patients of 40–49 years of age, and these patients present the greatest imaging and diagnostic challenge. Following multidisciplinary review, a consensus was reached on whether a cancer had been missed or not. No delay occurred in 10 patients (35%) and probably no delay in 7 patients (24%). Possible delay occurred in three patients (10%) and definite delay in diagnosis (i.e., a ‘missed' cancer) occurred in only nine patients (31%). The overall diagnostic accuracy of ‘triple' assessment is 99.6% and the ‘missed' cancer rate is 1.7 per 1000 women discharged. PMID:19455145

  4. Clinical Significance of Molecular Diagnostic Tools for Bacterial Bloodstream Infections: A Systematic Review

    PubMed Central

    Nyirahabimana, Therese

    2016-01-01

    Bacterial bloodstream infection (bBSI) represents any form of invasiveness of the blood circulatory system caused by bacteria and can lead to death among critically ill patients. Thus, there is a need for rapid and accurate diagnosis and treatment of patients with septicemia. So far, different molecular diagnostic tools have been developed. The majority of these tools focus on amplification based techniques such as polymerase chain reaction (PCR) which allows the detection of nucleic acids (both DNA and small RNAs) that are specific to bacterial species and sequencing or nucleic acid hybridization that allows the detection of bacteria in order to reduce delay of appropriate antibiotic therapy. However, there is still a need to improve sensitivity of most molecular techniques to enhance their accuracy and allow exact and on time antibiotic therapy treatment. In this regard, we conducted a systematic review of the existing studies conducted in molecular diagnosis of bBSIs, with the main aim of reporting on clinical significance and benefits of molecular diagnosis to patients. We searched both Google Scholar and PubMed. In total, eighteen reviewed papers indicate that shift from conventional diagnostic methods to molecular tools is needed and would lead to accurate diagnosis and treatment of bBSI. PMID:27974890

  5. Cutaneous cryptococcosis in solid organ transplant recipients: epidemiological, clinical, diagnostic and therapeutic features.

    PubMed

    Biancheri, Doriane; Kanitakis, Jean; Bienvenu, Anne-Lise; Picot, Stephane; Morelon, Emmanuel; Faure, Michel; Euvrard, Sylvie

    2012-01-01

    Data on post-graft cutaneous cryptococcosis (CC) are rare. The objective was to delineate the epidemiological, clinical, diagnostic, therapeutic features of CC in organ transplant recipients. We compared cases from a cohort of 3,670 transplanted adults with cases from a regional cryptococcosis registry including 122 patients. Four CC were diagnosed in the transplanted cohort (1‰) corresponding in the regional registry to 33% of the 12 cases of cryptococcosis after transplantation, while among the 110 non-grafted patients, only five cryptococcosis were cutaneous (4%). CC appeared as a single (3 patients) ulcer or nodule over 1cm in size in an uncovered body zone, on average 13 months post-graft. 3 patients had concomitant opportunistic infections or a recent increase in their immunosuppression. All CC after transplantation were localized exclusively to the skin, raising the question of the mode of contamination (through the skin or the lungs). Evidence of dissemination is difficult because of the poor sensitivity of diagnostic tests. Fluconazole was the treatment of choice in association with immunosuppressive treatment tapering.

  6. Diagnostic accuracy and appropriateness of general practitioner referrals to a dermatology out-patient clinic.

    PubMed

    Basarab, T; Munn, S E; Jones, R R

    1996-07-01

    A study was undertaken of new referrals by GPs to a dermatology clinic in a district general hospital over a 6-month period. Six hundred and eighty-six consecutive referrals to one consultant were analysed for diagnostic accuracy and requirement for referral. Only 47% of referral letters contained the correct diagnosis. Viral warts and psoriasis were best diagnosed (82 and 78%, respectively), but seborrhoeic warts and dermatofibromas caused difficulty (22 and 19%, respectively). Cutaneous malignancy was correctly diagnosed in 45% of referrals, and eczema, the commonest condition referred, in 54% of cases. Sixty-eight percent of referrals required hospital-based facilities for diagnosis (31%) or treatment/management (37%). Twenty-one per cent of patients referred attended for once-only visits, requiring no specialized diagnostic or therapeutic procedures. Such referrals should decrease with improved GP education. Eleven percent of referrals were for minor surgical procedures such as curettage, shave biopsy, or cryotherapy and would become unnecessary if such facilities were available in the community. Our data demonstrate the potential for management of up to one-third of current dermatological referrals within the community by improving education of GPs and providing appropriate facilities within the community. However, over two-thirds of patients required hospital facilities, a finding of considerable relevance to the future location of dermatological services.

  7. Label-free silicon photonic biosensors for use in clinical diagnostics

    NASA Astrophysics Data System (ADS)

    Talebi Fard, Sahba; Grist, Samantha M.; Donzella, Valentina; Schmidt, Shon A.; Flueckiger, Jonas; Wang, Xu; Shi, Wei; Millspaugh, Andrew; Webb, Mitchell; Ratner, Daniel M.; Cheung, Karen C.; Chrostowski, Lukas

    2013-02-01

    Silicon photonics is poised to revolutionize biosensing applications, specifically in medical diagnostics. Optical sensors can be designed to improve clinically-relevant diagnostic assays and be functionalized to capture and detect target biomarkers of interest. There are various approaches to designing these sensors - improving the devices' performance, increasing the interaction of light with the analyte, and matching the characteristics of the biomolecules by using architectures that complement the biosensing application. Using e-beam lithography and standard foundry processes, we have investigated Transverse Magnetic (TM) and Transverse Electric (TE) disk and ring resonators. TM devices hold the potential for higher sensitivity and large-particle sensing capabilities due to the increased penetration distance of light into the analyte. In addition, devices such as slot waveg­guide Bragg grating sensors have shown high sensitivities and high quality factors and may present advantages for specific biosensing applications. These devices have been investigated for wavelengths around λ=1550 nm (conventional wavelength window in fiber-optic communication) and λ=1220 nm, where the water absorption is greatly decreased, offering improved limits of detection. Using reversibly bonded PDMS microfluidic flow cells, the performance and bio-detection capabilities of these devices were characterized. Comparing binding performance across these devices will help validate architectures suitable for biological applications. The most promising sensors for each application will then be identified for further study and development. This paper will discuss the sensors' comparative advantages for different applications in biosensing and provide an outlook for future work in this field.

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

    PubMed

    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. (c) 2015 APA, all rights reserved).

  9. [Features of clinic, diagnostics and treatment of typhoid fever in young patients].

    PubMed

    Kovalenko, A N; Zhdanov, K V; Volzhanin, V M; Shishkin, M K; Tokmakov, V S; Karpov, A V; Murachev, A A; Kondratenok, V A

    2011-01-01

    Typhoid fever is a dangerous infection. The article analyzes the clinical aspects, diagnostic possibilities and casual treatment of the young men in organized group with typhoid. It's shown that despite early hospitalization (at average of 5.5 days) the main manifestations peculiar to the "classical" infection retained. The majority (61.5%) had disease of moderate severity, mild form were at 37,4% of patients. Complications occurred in 5.0% of the patients: pneumonia (2.8%), myocarditis (2.2%) and pancreatits (2.2%). Pathogen isolated from patients with typhoid fever had reduced susceptibility to fluoroquinolones. Antimicrobial therapy showed the advantage of the 3 generation cephalosporin (ceftriaxone) compared with ciprofloxacin or a combination of the latter with cefotaxime.

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

    PubMed Central

    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

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

    PubMed

    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.

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

    PubMed

    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.

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

    NASA Technical Reports Server (NTRS)

    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.

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

    NASA Technical Reports Server (NTRS)

    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.

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

    PubMed

    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.

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

    PubMed

    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.

  17. Evaluation of a breast self-examination (BSE) program in a breast diagnostic clinic.

    PubMed

    Fitch, M I; McPhail, J; Franssen, E

    2001-01-01

    The purpose of this study was to evaluate the short-term effectiveness of a breast self-examination (BSE) teaching program on women's knowledge about BSE, proficiency in performing BSE, and motivation to perform BSE. The program was developed for delivery by nurses in a breast diagnostic clinic, a clinic designed to meet the need for expeditious management of breast disease, current information about breast cancer risk, surveillance, and counselling. A convenience sample of 68 women attending the clinic in a regional cancer centre participated in a pre- and five month post-teaching program evaluation. The Toronto Breast Self Examination Instrument was used as the evaluation tool. There were statistically significant changes following the teaching program in the areas of knowledge about the correct technique for performing BSE, proficiency performing BSE, and confidence about finding changes when performing BSE. No significant changes were observed in motivation to practise BSE, although group scores did improve following the education. Participants found the video presentation and the review of BSE information pamphlets by the nurse to be the most helpful components of the BSE teaching program.

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

    PubMed

    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.

  19. Generating and evaluating evidence of the clinical utility of molecular diagnostic tests in oncology.

    PubMed

    Deverka, Patricia; Messner, Donna A; McCormack, Robert; Lyman, Gary H; Piper, Margaret; Bradley, Linda; Parkinson, David; Nelson, David; Smith, Mary Lou; Jacques, Louis; Dutta, Tania; Tunis, Sean R

    2016-08-01

    Enthusiasm for molecular diagnostic (MDx) testing in oncology is constrained by the gaps in required evidence regarding its impact on patient outcomes (clinical utility (CU)). This effectiveness guidance document proposes recommendations for the design and evaluation of studies intended to reflect the evidence expectations of payers, while also reflecting information needs of patients and clinicians. Our process included literature reviews and key informant interviews followed by iterative virtual and in-person consultation with an expert technical working group and an advisory group comprising life-sciences industry experts, public and private payers, patients, clinicians, regulators, researchers, and other stakeholders. Treatment decisions in oncology represent high-risk clinical decision making, and therefore the recommendations give preference to randomized controlled trials (RCTs) for demonstrating CU. The guidance also describes circumstances under which alternatives to RCTs could be considered, specifying conditions under which test developers could use prospective-retrospective studies with banked biospecimens, single-arm studies, prospective observational studies, or decision-analytic modeling techniques that make a reasonable case for CU. Using a process driven by multiple stakeholders, we developed a common framework for designing and evaluating studies of the clinical validity and CU of MDx tests, achieving a balance between internal validity of the studies and the relevance, feasibility, and timeliness of generating the desired evidence.Genet Med 18 8, 780-787.

  20. [Cowpox virus infection in an alpaca (Vicugna pacos) - clinical symptoms, laboratory diagnostic findings and pathological changes].

    PubMed

    Goerigk, D; Theuß, T; Pfeffer, M; Konrath, A; Kalthoff, D; Woll, D; Vahlenkamp, T W; Beer, M; Starke, A

    2014-01-01

    Orthopoxvirus infections appear to be rare in South American Camelids, because only a few cases have been reported in the literature. Based on a generalized infection with cowpox virus in an alpaca, the clinical symptoms, laboratory diagnostic findings and the pathological changes are described. The case history showed a long treatment because of chronic skin lesions. The main clinical symptom was miliary papules over the entire skin. Furthermore, a bilateral mucopurulent conjunctivitis occurred as well as excessive salivation due to a severe erosive-ulcerative stomatitis. Although the animal received intensive treatment, it died 8 days after admission to the clinic. During necropsy, an erosive-ulcerative laryngitis as well as a necrotising pneumonia and lymphadenitis were observed. Histopathological examination of representative organ samples led to the diagnosis of a suspected orthopoxvirus infection. Electron microscopy and quantitative polymerase chain reaction (qPCR) of tissue samples confirmed this diagnosis. The virus could be isolated in tissue culture and a PCR with subsequent nucleotide sequencing identified cowpox virus as the causative agent for this generalised infection.

  1. Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact.

    PubMed

    Castella, Maria; Pujol, Roser; Callén, Elsa; Ramírez, Maria J; Casado, José A; Talavera, Maria; Ferro, Teresa; Muñoz, Arturo; Sevilla, Julián; Madero, Luis; Cela, Elena; Beléndez, Cristina; de Heredia, Cristina Díaz; Olivé, Teresa; de Toledo, José Sánchez; Badell, Isabel; Estella, Jesús; Dasí, Ángeles; Rodríguez-Villa, Antonia; Gómez, Pedro; Tapia, María; Molinés, Antonio; Figuera, Ángela; Bueren, Juan A; Surrallés, Jordi

    2011-04-01

    Fanconi anaemia (FA) is a rare syndrome characterized by bone marrow failure, malformations and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing agents such as diepoxybutane (DEB) or mitomycin C (MMC) is the 'gold standard' test for the diagnosis of FA. To study the variability, the diagnostic implications and the clinical impact of chromosome fragility in FA. Data are presented from 198 DEB-induced chromosome fragility tests in patients with and without FA where information on genetic subtype, cell sensitivity to MMC and clinical data were available. This large series allowed quantification of the variability and the level of overlap in ICL sensitivity among patients with FA and the normal population. A new chromosome fragility index is proposed that provides a cut-off diagnostic level to unambiguously distinguish patients with FA, including mosaics, from non-FA individuals. Spontaneous chromosome fragility and its correlation with DEB-induced fragility was also analysed, indicating that although both variables are correlated, 54% of patients with FA do not have spontaneous fragility. The data reveal a correlation between malformations and sensitivity to ICL-inducing agents. This correlation was also statistically significant when the analysis was restricted to patients from the FA-A complementation group. Finally, chromosome fragility does not correlate with the age of onset of haematological disease. This study proposes a new chromosome fragility index and suggests that genome instability during embryo development may be related to malformations in FA, while DEB-induced chromosome breaks in T cells have no prognostic value for the haematological disease.

  2. An integrated digital microfluidic lab-on-a-chip for clinical diagnostics on human physiological fluids.

    PubMed

    Srinivasan, Vijay; Pamula, Vamsee K; Fair, Richard B

    2004-08-01

    Clinical diagnostics is one of the most promising applications for microfluidic lab-on-a-chip systems, especially in a point-of-care setting. Conventional microfluidic devices are usually based on continuous-flow in microchannels, and offer little flexibility in terms of reconfigurability and scalability. Handling of real physiological samples has also been a major challenge in these devices. We present an alternative paradigm--a fully integrated and reconfigurable droplet-based "digital" microfluidic lab-on-a-chip for clinical diagnostics on human physiological fluids. The microdroplets, which act as solution-phase reaction chambers, are manipulated using the electrowetting effect. Reliable and repeatable high-speed transport of microdroplets of human whole blood, serum, plasma, urine, saliva, sweat and tear, is demonstrated to establish the basic compatibility of these physiological fluids with the electrowetting platform. We further performed a colorimetric enzymatic glucose assay on serum, plasma, urine, and saliva, to show the feasibility of performing bioassays on real samples in our system. The concentrations obtained compare well with those obtained using a reference method, except for urine, where there is a significant difference due to interference by uric acid. A lab-on-a-chip architecture, integrating previously developed digital microfluidic components, is proposed for integrated and automated analysis of multiple analytes on a monolithic device. The lab-on-a-chip integrates sample injection, on-chip reservoirs, droplet formation structures, fluidic pathways, mixing areas and optical detection sites, on the same substrate. The pipelined operation of two glucose assays is shown on a prototype digital microfluidic lab-on-chip, as a proof-of-concept.

  3. Diagnostic accuracy of clinical examination features for identifying large rotator cuff tears in primary health care

    PubMed Central

    Cadogan, Angela; McNair, Peter; Laslett, Mark; Hing, Wayne; Taylor, Stephen

    2013-01-01

    Objectives: Rotator cuff tears are a common and disabling complaint. The early diagnosis of medium and large size rotator cuff tears can enhance the prognosis of the patient. The aim of this study was to identify clinical features with the strongest ability to accurately predict the presence of a medium, large or multitendon (MLM) rotator cuff tear in a primary care cohort. Methods: Participants were consecutively recruited from primary health care practices (n = 203). All participants underwent a standardized history and physical examination, followed by a standardized X-ray series and diagnostic ultrasound scan. Clinical features associated with the presence of a MLM rotator cuff tear were identified (P<0.200), a logistic multiple regression model was derived for identifying a MLM rotator cuff tear and thereafter diagnostic accuracy was calculated. Results: A MLM rotator cuff tear was identified in 24 participants (11.8%). Constant pain and a painful arc in abduction were the strongest predictors of a MLM tear (adjusted odds ratio 3.04 and 13.97 respectively). Combinations of ten history and physical examination variables demonstrated highest levels of sensitivity when five or fewer were positive [100%, 95% confidence interval (CI): 0.86–1.00; negative likelihood ratio: 0.00, 95% CI: 0.00–0.28], and highest specificity when eight or more were positive (0.91, 95% CI: 0.86–0.95; positive likelihood ratio 4.66, 95% CI: 2.34–8.74). Discussion: Combinations of patient history and physical examination findings were able to accurately detect the presence of a MLM rotator cuff tear. These findings may aid the primary care clinician in more efficient and accurate identification of rotator cuff tears that may require further investigation or orthopedic consultation. PMID:24421626

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

    PubMed

    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.

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

    PubMed

    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. Copyright © 2014 Elsevier Ltd. All rights reserved.

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

    PubMed Central

    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

  7. Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema.

    PubMed

    Aabom, Anne; Andersen, Klaus E; Fagerberg, Christina; Fisker, Niels; Jakobsen, Marianne A; Bygum, Anette

    2017-03-16

    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 approaches are limited. Our aim was to investigate the entire Danish cohort of children with HAE and non-HAE children of HAE patients for diagnostic approaches and clinical characteristics. We included 41 children: 22 with HAE and 19 non-HAE. Of the HAE children, 14 were symptomatic-median age at onset was 4 [1-11] years. The first attack was peripheral in 8/14 children and abdominal in 6/14 children, i.e. no one had their first attacks in the upper airways. Most children had less than one attack per month. All of the symptomatic children had been treated with tranexamic acid and/or C1 inhibitor concentrate. Unlike in other countries, androgens were not used in our pediatric cohort. Home therapy with C1 inhibitor concentrate was established in 9 cases: 6 children were trained in self-administration and 3 children were treated by parents. Of the children, 10 had been diagnosed by symptoms, including 3 without family history-median age of diagnosis among these children was 5.35 [2-13.2] years. In 31 children, HAE was diagnosed or refuted before symptoms by blood samples. In 23 of these children, complement values were investigated, and in 9 cases genetic testing was added to the complement measurements. In 8 children recently investigated, genetic testing was first choice. Cord blood was used for complement measurements in 9 children and for genetic testing in 4 children. Results of complement measurements were equivocal in several cases, especially in the cord blood samples, and the sensitivity of low complement C4 for the diagnosis of HAE was 75%. We investigated clinical characteristics in all Danish children with HAE. The rate of home therapy was high and androgens had been avoided

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

    PubMed

    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.

  9. Clinical impact of diagnostic imaging discrepancy by radiology trainees in an urban teaching hospital emergency department

    PubMed Central

    2013-01-01

    Background To characterize clinically significant diagnostic imaging (DI) discrepancies by radiology trainees and the impact on emergency department (ED) patients. Methods Consecutive case series methodology over a 6-month period in an urban, tertiary care teaching hospital. Emergency physicians (EPs) were recruited to flag discrepant DI interpretations by radiology trainees that the EP deemed clinically significant. Cases were characterized using chart review and EP interview. Results Twenty-eight discrepant reports were identified (representing 0.1% of 18,185 images interpreted). The mean time between provisional discrepant diagnosis (PDDx) and revised diagnosis (RDx) by attending radiology staff was 8.6 h (median 4.8 h, range 1.1-48.4), and 67.9% (n = 19) of the patients had left the ED by time of notification. The most frequently reported PDDx was CT abd/pelvis (32.1%, n = 9) and CT head (28.6%, n = 8). The impact of RDx was deemed major in 57.1% (n = 16) for reasons including altered admitting status (32.1%, n = 9), immediate subspecialty referral (n = 16, 57.1%), impact on management (25%, n = 7), and surgical management (21.4%, n = 6). EPs reported likely perceived impact of PDDx as resulting in increased pain (17. 9%, n = 5), morbidity (10.7%, n = 3), and prolonged hospitalization (25%, n = 7), but not altered long-term outcome or mortality. Conclusions Relatively few clinically important discrepant reads were reported. Revised diagnosis (RDx) was associated with major clinical impact in 57.1% of reports, but few patients experienced increased morbidity, and none increased mortality. The importance of expedient communication of discrepant reports by staff radiologists is stressed, as is EP verification of patient contact information prior to discharge. PMID:23866048

  10. Triggering essential head tremor with sustained phonation: a clinical phenomenon with potential diagnostic value.

    PubMed

    Wright, Brenton A; Michalec, Monika; Louis, Elan D

    2014-02-01

    Here we report a clinical phenomenon that we have observed repeatedly in clinical research settings; namely, a triggering and/or exacerbation of head tremor during or immediately following sustained phonation. To our knowledge, it has not been reported previously nor has it been the subject of study. Here we: 1) report the phenomenon, 2) provide several visual illustrations, 3) estimate its prevalence, and 4) analyze its clinical correlates. Head tremor was assessed qualitatively, and scores were assigned pre-, during, and post-sustained phonation using the Tremor Research Group Essential Tremor Rating Assessment Scale. Seventy (68.6%) of 102 essential tremor (ET) patients exhibited a qualitative increase in head tremor amplitude during and/or immediately after sustained phonation; in 5 (4.9%), head tremor would not have been detected without the voice activation maneuver (i.e., it was not visible at any other point in the videotape aside from the period during/immediately following sustained phonation). Women were more likely than men to exhibit this phenomenon (p = 0.05), whereas age, age at onset, duration of tremor, and total tremor score did not predict responsiveness of head tremor to sustained phonation. Sustained voice activation is a useful examination maneuver that may elicit or amplify head tremor in ET. Head tremor is not reported to occur in patients with enhanced physiological tremor. Thus, this maneuver, by triggering head tremor, may be a useful diagnostic supplement, particularly in research/clinical settings where arm tremor is mild and the diagnosis (mild ET vs. enhanced physiological tremor) would otherwise be ambiguous.

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

    PubMed

    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.

  12. Diagnostic Approach to Advanced Fibrotic Interstitial Lung Disease: Bringing Together Clinical, Radiologic, and Histologic Clues.

    PubMed

    Larsen, Brandon T; Smith, Maxwell L; Elicker, Brett M; Fernandez, Jessica M; de Morvil, Guillermo A Arbo-Oze; Pereira, Carlos A C; Leslie, Kevin O

    2017-07-01

    - Idiopathic pulmonary fibrosis (IPF) is a distinctive clinicopathologic entity and the most common form of progressive diffuse lung scarring in older adults. Idiopathic pulmonary fibrosis manifests histopathologically as the usual interstitial pneumonia pattern. The usual interstitial pneumonia pattern is distinguished by geographically and temporally heterogeneous fibrosis that is peripherally accentuated, often with honeycombing and traction bronchiectasis. Idiopathic pulmonary fibrosis is not the only disease that leads to end-stage lung fibrosis, however, and several other entities may also cause advanced fibrosis. Surgical lung biopsies often present a diagnostic dilemma when they show clear evidence of advanced fibrosis, but the clinical, imaging, and/or histopathologic subcharacteristics suggest something other than IPF. - To address this dilemma, we review several other fibrotic lung diseases, including connective tissue disease-associated interstitial lung disease, chronic hypersensitivity pneumonitis, advanced pulmonary Langerhans cell histiocytosis, end-stage pulmonary sarcoidosis, Erdheim-Chester disease, Hermansky-Pudlak syndrome, and others, detailing their clinical, radiologic, and histopathologic attributes and emphasizing similarities to and differences from IPF. - Data sources comprised published peer-reviewed literature and personal experience of the authors. - Often, clues in the lung biopsy may offer the first suggestion of a fibrotic lung disease other than IPF, and accurate classification is important for prognosis, treatment, and the development of future therapies.

  13. Analysis of data obtained in clinical trials of optical biopsy system for breast cancer diagnostics

    NASA Astrophysics Data System (ADS)

    Belkov, S. A.; Kochemasov, G. G.; Kulikov, S. M.; Maslov, N. V.; Bondarenko, S. V.; Shakhova, N. M.; Pavlycheva, I. Y.; Rubenchik, A.; Da Silva, L. B.

    2008-02-01

    In the clinical trials it was shown, that characteristics of optical scattering and absorption are sensitive to the tissue type and state. In the given report improved optical biopsy system will be presented, clinical trials of which have been conducted in the Regional Oncology Center of Nizhny Novgorod, Russia. During a year more than 160 patients with breast tumors were investigated using this system. Radiation from a xenon lamp through an optical fiber placed inside the probe's needle was delivered into the breast. The radiation scattered from the breast tissue was collected by another fibers also placed in the same needle and its spectrum was measured. Obtained optical data was analyzed to find general optical characteristics of scattered radiation in different types of tissue and revealing the major peculiarities in the spectral scattering coefficients of malignant tumors and their distinctions from benign tumors and healthy tissue. Using different mathematical algorithm the typical template of scattering spectrum was found for benign and malignant type of breast tumor. Then the algorithm of automatic detection of malignant spectra in the data flow was developed. Using this algorithm the datasets of all patients were processed and analyzed and the diagnoses were obtained. The automatic diagnoses were compared with those given by physicians. As a result the indexes of sensitivity and specificity for the optical biopsy diagnostic method were found equal to 96% and 80% correspondingly.

  14. [Positron emission tomography in neuroscience. An integrative part of clinical diagnostic methods and experimental research].

    PubMed

    Schaller, B

    2005-02-01

    The role of molecular neuroimaging techniques is increasing in the understanding of pathophysiological mechanism of diseases. To date, positron emission tomography is the most powerful tool for the non-invasive study of biochemical and molecular processes in humans and animals in vivo. With the development in radiochemistry and tracer technology, a variety of endogenously expressed and exogenously introduced genes can be analyzed by PET. This opens up the exciting and rapidly field of molecular imaging, aiming at the non-invasive localisation of a biological process of interest in normal and diseased cells in animal models and humans in vivo. Besides its usefulness for basic research positron emission tomography has been proven to be superior to conventional diagnostic methods in several clinical indications. This is illustrated by detection of biological or anatomic changes that cannot be demonstrated by computed tomography or magnetic resonance imaging, as well as even before symptoms are expressed. The present review summarizes the clinical use of positron emission tomography in neuroscience that has helped elucidate the pathophysiology of a number of diseases and has suggested strategies in the treatment of these patients. Special reference is given to the neurovascular, neurodegenerative and neurooncological disease.

  15. International heterogeneity in diagnostic frequency and clinical outcomes of ascending aortic intramural hematoma.

    PubMed

    Pelzel, Jamie M; Braverman, Alan C; Hirsch, Alan T; Harris, Kevin M

    2007-11-01

    Differing diagnostic frequencies and management strategies for intramural hematoma (IMH) have been described in North American (NA)/European and Japanese/Korean studies. All publications including type-A aortic IMH were reviewed for details on patient demographics, treatment strategy, and clinical outcomes. Publications were stratified by the geographic region (NA/Europe or Japan/Korea). IMH, as a percentage of aortic dissection, occurs more frequently in Japan/Korea versus NA/Europe (31.7% vs 10.9%, P < .0001). The proportion of patients treated with early medical therapy is greater in Japanese/Korean studies (77.9% vs 48.8% in NA/Europe, P < .0001). However, the overall mortality is significantly lower in Japan/Korea compared with NA/Europe (9.4% vs 20.6%, odds ratio = 2.80, P = .003) in part because of the lower mortality with early medical therapy (7.8% vs 33.3%, P < .0001). There is significant international heterogeneity in the diagnosis and clinical outcomes of ascending IMH. IMH is diagnosed more frequently and has better overall outcomes in Japan/Korea.

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

    PubMed

    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.

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

    PubMed

    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.

  18. Pain, disability, and diagnostic accuracy of clinical instability and endurance tests in subjects with lumbar spondylolisthesis.

    PubMed

    Ferrari, Silvano; Vanti, Carla; Piccarreta, Raffaella; Monticone, Marco

    2014-01-01

    The aims of this study were (1) to investigate the relationship between the main clinical tests to detect spinal instability, the perceived pain and disability, and symptomatic spondylolisthesis (SPL) characteristics, (2) to investigate the relationship between endurance and instability tests, and (3) to measure the diagnostic accuracy of these tests in unstable SPL diagnosed against dynamic radiographs. Four instability tests were evaluated on 119 subjects: aberrant movements, active straight leg raising (ASLR), prone instability test, and passive lumbar extension test (PLE); and 2 endurance tests, prone bridge test and supine bridge test (SBT). The results were compared with the numeric rating scale for pain and the Oswestry Disability Index for disability. These tests were used as index tests and compared with dynamic radiographs as reference standard on 64 subjects. A significant relationship between disability and all the clinical tests but ASLR was observed. The relation between tests and pain was weaker, not significant for prone instability test and aberrant movement and critical for ASLR (P = .05). There was a low relationship between endurance tests and instability tests. Only PLE showed a significant association with dynamic radiographs (P = .017). Endurance and instability tests appear to be weakly related to the amount of pain but significantly related to the disability in symptomatic SPL. Of the tests evaluated, PLE exhibited the best ability to predict positive dynamic radiographs. Copyright © 2014 National University of Health Sciences. Published by Elsevier Inc. All rights reserved.

  19. Pediatric Targeted Therapy: Clinical Feasibility of Personalized Diagnostics in Children with Relapsed and Progressive Tumors.

    PubMed

    Selt, Florian; Deiß, Alica; Korshunov, Andrey; Capper, David; Witt, Hendrik; van Tilburg, Cornelis M; Jones, David T W; Witt, Ruth; Sahm, Felix; Reuss, David; Kölsche, Christian; Ecker, Jonas; Oehme, Ina; Hielscher, Thomas; von Deimling, Andreas; Kulozik, Andreas E; Pfister, Stefan M; Witt, Olaf; Milde, Till

    2016-07-01

    The "pediatric targeted therapy" (PTT) program aims to identify the presence and activity of druggable targets and evaluate the clinical benefit of a personalized treatment approach in relapsed or progressive tumors on an individual basis. 10 markers (HDAC2, HR23B, p-AKT, p-ERK, p-S6, p-EGFR, PDGFR-alpha/beta, p53 and BRAFV600E) were analyzed by immunohistochemistry. Pediatric patients with tumors independent of the histological diagnosis, with relapse or progression after treatment according to standard protocols were included. N = 61/145 (42%) cases were eligible for analysis between 2009 and 2013, the most common entities being brain tumors. Immunohistochemical stainings were evaluated by the H-Score (0-300). In 93% of the cases potentially actionable targets were identified. The expressed or activated pathways were histone deacetylase (HDACs; 83.0% of cases positive), EGFR (87.2%), PDGFR (75.9%), p53 (50.0%), MAPK/ERK (43.3%) and PI3K/mTOR (36.1%). Follow-up revealed partial or full implementation of PTT results in treatment decision-making in 41% of the cases. Prolonged disease stabilization responses in single cases were noticed, however, response rates did not differ from cases treated with other modalities. Further studies evaluating the feasibility and clinical benefit of personalized diagnostic approaches using paraffin material are warranted.

  20. Clinically non-functioning pituitary adenomas: Pathogenic, diagnostic and therapeutic aspects.

    PubMed

    Mercado, Moises; Melgar, Virgilio; Salame, Latife; Cuenca, Dalia

    Clinically non-functioning pituitary adenomas (NFPAs) are among the most common tumors in the sellar region. These lesions do not cause a hormonal hypersecretion syndrome, and are therefore found incidentally (particularly microadenomas) or diagnosed based on compressive symptoms such as headache and visual field defects, as well as clinical signs of pituitary hormone deficiencies. Immunohistochemically, more than 45% of these adenomas stain for gonadotropins or their subunits and are therefore called gonadotropinomas, while 30% of them show no immunostaining for any hormone and are known as null cell adenomas. The diagnostic approach to NFPAs should include visual field examination, an assessment of the integrity of all anterior pituitary hormone systems, and magnetic resonance imaging of the sellar region to define tumor size and extension. The treatment of choice is transsphenoidal resection of the adenoma, which in many instances cannot be completely accomplished. The recurrence rate after surgery may be up to 30%. Persistent or recurrent adenomas are usually treated with radiation therapy. In a small proportion of these cases, drug treatment with dopamine agonists and, to a lesser extent, somatostatin analogs may achieve reduction or at least stabilization of the tumor. Copyright © 2017 SEEN. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. Diagnostic tests for oral cancer and potentially malignant disorders in patients presenting with clinically evident lesions.

    PubMed

    Macey, Richard; Walsh, Tanya; Brocklehurst, Paul; Kerr, Alexander R; Liu, Joseph L Y; Lingen, Mark W; Ogden, Graham R; Warnakulasuriya, Saman; Scully, Crispian

    2015-05-29

    Oral squamous cell carcinoma is the most common form of malignancy of the lip and oral cavity, often being proceeded by potentially malignant disorders (PMD). Early detection can reduce the malignant transformation of PMD and can improve the survival rate for oral cancer. The current standard of scalpel biopsy with histology is painful for patients and involves a delay whilst histology is completed; other tests are available that are unobtrusive and provide immediate results. To estimate the diagnostic accuracy of index tests for the detection of oral cancer and PMD of the lip and oral cavity, in people presenting with clinically evident lesions. To estimate the relative accuracy of the different index tests. The electronic databases were searched on 30 April 2013. We searched MEDLINE (OVID) (1946 to April 2013) and four other electronic databases (the Cochrane Diagnostic Test Accuracy Studies Register, the Cochrane Oral Health Group's Trials Register, EMBASE (OVID) and MEDION (Ovid)). There were no restrictions on language in the searches of the electronic databases. We conducted citation searches and screened reference lists of included studies for additional references. We selected studies that reported the diagnostic test accuracy of the following index tests when used as an adjunct to conventional oral examination in detecting PMD or oral squamous cell carcinoma of the lip or oral cavity: vital staining, oral cytology, light-based detection and oral spectroscopy, blood or saliva analysis (which test for the presence of biomarkers in blood or saliva). Two review authors independently screened titles and abstracts for relevance. Eligibility, data extraction and quality assessment were carried out by at least two authors, independently and in duplicate. Studies were assessed for methodological quality using QUADAS-2. Meta-analysis was used to combine the results of studies for each index test using the bivariate approach to estimate the expected values of

  2. [The quality management in clinical diagnostic laboratory in conditions of the Federal Center of traumatology, orthopedics and endoprosthesis replacement of Minzdrav of Russia (Cheboksary)].

    PubMed

    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.

  3. Clinical and electromyographic deep tendon reflexes in polyneuropathy: diagnostic value and prevalence*.

    PubMed

    Sharma, K R; Saadia, D; Facca, A G; Resnick, S; Ayyar, D R

    2009-04-01

    Evidence is accumulating that patients with polyneuropathy may present with normal clinical deep tendon reflexes (C-DTR). There are few studies that assessed the diagnostic utility of electromyographically recorded DTR (Er-DTR) in patients with polyneuropathy. The objectives of this study were twofold: (i) to evaluate the prevalence of preserved C-DTR in polyneuropathy; (ii) diagnostic value of Er-DTR latency measurement in patients with polyneuropathy. We prospectively studied 38 controls and 185 patients with polyneuropathy. All subjects had evaluation of C-DTR, Er-DTR obtained from right biceps brachii (BR), right patellar (PR) and bilateral ankle reflexes (AR). Of these 185 patients, 118 (63.8%) had chronic axonal neuropathy (CAN), 49 (26.5%) demyelinating polyradiculoneuropathy (DPN) and 18 (9.7%) small fiber neuropathy (SFN). The C-DTR were normal in 65 patients whereas 39 of these 65 (60%) patients had abnormalities of Er-DTR at one or more sites. Er-DTR latencies in patients with polyneuropathies were prolonged at all sites compared with controls (P < 0.01). Among patients with various types of polyneuropathies the Er-DTR, mean latencies at all the sites and latency indicative of demyelination (>150% of the normal mean) were higher in patients with DPN than that of CAN or SFN (P < 0.01). We conclude that C-DTR are preserved in 35.1% of the patients with polyneuropathies and Er-DTR should be performed in such patients in order to provide electrophysiological evidence of a polyneuropathy. Er-DTR are useful in distinguishing axonal from demyelinating disorders of peripheral nerve, and detection of subclinical involvement of large fibers in SFN.

  4. Patient navigation improves cancer diagnostic resolution: an individually randomized clinical trial in an underserved population.

    PubMed

    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 < 0.001). Patient navigation improved diagnostic resolution for patients presenting with mammographic 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

  5. Patient Navigation Improves Cancer Diagnostic Resolution: An Individually Randomized Clinical Trial in an Underserved Population

    PubMed Central

    Raich, Peter C.; Whitley, Elizabeth M.; Thorland, William; Valverde, Patricia; Fairclough, Diane

    2012-01-01

    Background 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. Methods Denver Health (DH), the safety-net healthcare system serving Denver, is one of ten performance sites participating in the Patient Navigation Research Program (PNRP). 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) while 235 had abnormal colorectal and 130 had abnormal prostate screens. Results Time to resolution was significantly shorter in the navigated group (stratified log rank test, p<0.001). Patient navigation improved diagnostic resolution for patients presenting with mammographic BIRADS 3 (p=0.0003) and BIRADS 0 (p=0.09), but not BIRADS 4/5 or abnormal breast exams. 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. Conclusions Patient navigation positively impacts time to resolution of abnormal screening tests for breast, colorectal and prostate cancers in a medically underserved population. Impact 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. PMID:23045537

  6. [Relationship between Clinical Characteristics and Diagnostic Modes of Hospitalized Surgical Patients with Lung Cancer].

    PubMed

    Lai, Yutian; Tian, Long; Fan, Jun; Huang, Jian; Li, Shuangjiang; Du, Heng; Che, Guowei

    2015-07-01

    Diagnostic modes may play an important role in treatments, but minimal information is available regarding their relationship in patients with lung cancer. This study may contribute to decision making in clinics and public health centers. The records of 505 hospitalized surgical patients with lung cancer at the Department of Thoracic Surgery, West China Hospital of Sichuan University from January 2013 to December 2013 were retrospectively reviewed. The patients were categorized into physical examination group (PEG, 131 patients) and symptomatic group (SG, 374 patients). Surgical approach, pathological stage, and diagnostic mode were analyzed. Low-dose computed tomography (46.6%, 61/131) and computed radiography (51.1%, 67/131) were used as key diagnosis methods in 131 patients in PEG. The percentage of hospitalized surgical patients with lung cancer detected via physical examination in the city (35.4%, 80/229) was also significantly higher than in the township (18.1%, 50/276) (P<0.001). The ratio of stage I lung cancer detected via physical examination in the city (46.8%, 59/126) was significantly higher than that in the township (27.3%, 33/121) (P=0.001). The proportion of patients who underwent VATS lobectomy was significantly higher in PEG (73.3%, 96/131) than that in SG (44.4%, 166/374) (P<0.001), and the ratio of patients at stage I was significantly higher in PEG (70.2%, 92/131) than that in SG (41.4%, 155/374) (P<0.001). The use of physical examination is more prevalent in cities than that in towns, and its combination with mini-invasive surgical treatment contributes to early diagnosis of patients with lung cancer.

  7. The clinical and diagnostic performance characteristics of the high sensitivity Abbott cardiac troponin I assay.

    PubMed

    Collinson, P O; Gaze, D; Goodacre, S

    2015-03-01

    The aim of this study is to determine the imprecision profile, 99th percentile and diagnostic efficiency of a new high sensitivity cardiac troponin I (cTnI) assay. Total imprecision was assessed by following CLSI protocol EP15-A.14. Serum pools prepared from sera of known high cardiac troponin concentrations were adjusted by dilution with serum considered to be troponin free. Determination of the 99th-percentile reference value examined a fully characterized population that had undergone non-invasive cardiac imaging. Diagnostic accuracy utilised samples from the point of care arm of the RATPAC trial (Randomised Assessment of Treatment using Panel Assay of Cardiac markers), set in the emergency departments of six hospitals. Blood samples were taken on admission and 90min from admission. Diagnosis was based on the universal definition of myocardial infarction utilising laboratory measurements of cardiac troponin performed at the participating sites together with measurements performed in a core laboratory and compared by construction of receiver operator characteristic curves. Total imprecision was 4%-12.1% with 10% CV of 7ng/L. cTnI was measureable in 99.5% of the samples. Troponin values were influenced by gender but not by age. The 99th percentile was 14.8ng/L (18.1 males, 8.6 females). Progressive filtering of the population reduced the 99th percentile. For the diagnosis of MI on admission the area under the curve was 0.92, statistically indistinguishable from four other assays studied (0.90-0.94). The analytical performance of the new assay meets the criteria for a high sensitivity troponin assay. Copyright © 2014 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

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

    PubMed

    Hazenberg, Bouke P C; Bijzet, Johan; Limburg, Pieter C; Skinner, Martha; Hawkins, Philip N; Butrimiene, Irena; Livneh, Avi; Lesnyak, Olga; Nasonov, Evgeney L; Filipowicz-Sosnowska, Anna; Gül, Ahmet; Merlini, Giampaolo; Wiland, Piotr; Ozdogan, Huri; Gorevic, Peter D; Maïz, Hédi Ben; Benson, Merrill D; Direskeneli, Haner; Kaarela, Kalevi; Garceau, Denis; Hauck, Wendy; Van Rijswijk, Martin H

    2007-06-01

    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. Abdominal subcutaneous fat tissue of patients with AA amyloidosis was studied at the start of an international clinical trial with eprodisate (NC-503; 1,3-propanedisulfonate; Kiacta), an antiamyloid compound. All patients had renal findings, i.e. proteinuria (> or =1 g/day) or reduced creatinine clearance (20 - 60 ml/min). Controls were patients with other types of amyloidosis and arthritic patients without amyloidosis. Amyloid A protein was quantified by ELISA using monoclonal antihuman serum amyloid A antibodies. Congo red stained slides were scored by light microscopy in a semiquantitative way (0 to 4+). Ample fat tissue (>50 mg) was available for analysis in 154 of 183 patients with AA amyloidosis and in 354 controls. The sensitivity of amyloid A protein quantification for detection of AA amyloidosis (>11.6 ng/mg fat tissue) was 84% (95% CI: 77 - 89%) and specificity 99% (95% CI: 98 - 100%). Amyloid A protein quantification and semiquantitative Congo red scoring were concordant. Men had lower amyloid A protein values than women (p < 0.0001) and patients with familial Mediterranean fever had lower values than patients with arthritis (p < 0.001) or other inflammatory diseases (p < 0.01). Amyloid A protein quantification in fat tissue is a sensitive and specific method for detection of clinical AA amyloidosis. Advantages are independence from staining quality and observer experience, direct confirmation of amyloid AA type, and potential for quantitative monitoring of tissue amyloid over time.

  9. THE IMPORTANCE OF CLINICAL AND INSTRUMENTAL DIAGNOSTIC IN THE MAMMARY GLAND CANCER.

    PubMed

    Anton, E; Botnariuc, Natalia; Ancuta, E; Doroftei, B; Ciobica, A; Anton, Carmen

    2015-01-01

    Breast cancer is the most common oncology disease in women and is one of the major public health issues. Worldwide, is the second leading cause of cancer death in women and cancer research is a priority in all the laboratories of the world, in terms of uncovering the appearance causes of the malignant process, understanding the mechanisms of development, but most of all, the discovery of early diagnostic methods and effective treatment. Ignorance, fear of diagnosis, lack of health education and of efficient programmes for prevention and screening could cause diagnosis of the disease to be detected in the majority of cases in advanced stages, when treatment remains only palliative and very costly, in this cases the patient's suffering being immense. In this way, regarding the clinical diagnosis in stage I mammary gland cancer, in the 496 stage I MGC patients, during the primary clinical investigation the diagnosis of stage I MGC was established only in 165 (33.3%) patients, and in 232 (46,8%) patients the diagnosis of suspicion MGC was obtained. Also, in terms of instrumental diagnosis, such as mammography, ultrasonography in mammary gland cancer stage I, it seems that in accordance with literature data the pathological process features assessment in the mammary gland is problematic especially in young age. Thus, it seems that MGC represents a polymorphic and pathogenic disease and it cannot be admitted that all subgroups of patients will obtain identical results from one tactic of treatment determined for all the patients with MGC. In this way, the concept of MGC both clinical and patho morphological, combines different cell clones depending on its microstructure and biology. As a result, the evolution of the disease, the prognosis and the effectiveness of the treatment may vary in different patients at the same stage, depending on the degree of malignancy of the tumor, its histopathological structure, the degree of expression of molecular markers identification

  10. Clinical value of radiocontrast media skin tests as a prescreening and diagnostic tool in hypersensitivity reactions.

    PubMed

    Kim, Sae-Hoon; Jo, Eun-Jung; Kim, Mi-Yeong; Lee, Seung-Eun; Kim, Min-Hye; Yang, Min-Suk; Song, Woo-Jung; Choi, Sang-Il; Kim, Jae-Hyoung; Chang, Yoon-Seok

    2013-04-01

    Some radiocontrast media (RCM) hypersensitivity reactions may have underlying IgE- or T-cell-mediated mechanisms. RCM skin testing may be useful for predicting future reactions. To investigate the clinical value of RCM skin testing before computed tomography and after RCM hypersensitivity reactions. Patients who underwent RCM skin testing were a prospective sample of convenience at a single medical center and were tested just before their pending nonionic RCM-enhanced computed tomogram. In addition, skin test data of patients who were referred to the allergy clinic because of their previous RCM hypersensitivity reactions were reviewed retrospectively. A total of 1048 patients enrolled in the study prospectively. Of these, 672 (64.1%) had never been exposed to RCM. Of the 376 previously exposed to RCM, 61 (16.2%) had a history of at least one mild RCM-associated reaction, 56 (91.8%) had immediate reactions, and 5 had no-immediate reactions. There was only 1 positive immediate hypersensitivity RCM skin test result (0.09%). There were 51 mild immediate reactions (4.9%), 1 moderate immediate reaction (0.09%), 8 mild nonimmediate reactions (0.76%), and 1 moderate nonimmediate reaction (0.09%). There was only 1 positive delayed hypersensitivity skin test result (0.09%), retrospectively determined, in 1 (11.1%) of the nonimmediate RCM-associated reactions. Sensitivity of RCM skin testing was significantly higher with severe immediate reactions (57.1%) than mild reactions (12.9%) and moderate reactions (25.0%) in the retrospective review of diagnostic skin test data (P = .03). RCM skin testing for screening is of no clinical utility in predicting hypersensitivity reactions. RCM skin testing may have modest utility in retrospectively evaluating severe adverse reactions. Copyright © 2013 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  11. High-resolution bone imaging for osteoporosis diagnostics and therapy monitoring using clinical MDCT and MRI.

    PubMed

    Baum, T; Karampinos, D C; Liebl, H; Rummeny, E J; Waldt, S; Bauer, J S

    2013-01-01

    Osteoporosis is classified as a public health problem due to its increased risk for fragility fractures. Osteoporotic fractures, in particular spine and hip fractures, are associated with a high morbidity and mortality, and generate immense financial cost. The World Health Organisation (WHO) based the diagnosis of osteoporosis on the measurement of bone mineral density (BMD) using dual-energy X-ray absorptiometry (DXA). However, BMD values of subjects with versus without osteoporotic fractures overlap. Furthermore, it was reported that the anti-fracture effects of drugs could be only partially explained by their effects on BMD. Bone strength reflects the integration of BMD and bone quality. The later can be partly determined by measurements of bone microstructure. Therefore, substantial research efforts have been undertaken to assess bone microstructure by using high-resolution imaging techniques, including high-resolution peripheral quantitative computed tomography (hr-pQCT), high-resolution multi-detector computed tomography (MDCT), and high-resolution magnetic resonance imaging (MRI). Clinical MDCT and MRI systems are broadly available and allow an adequate depiction of the bone microstructure at the clinically most important fracture sites, i.e. radius, spine and hip. Bone microstructure parameters and finite element models can be computed in high-resolution MDCT and MR images. These measurements improved the prediction of bone strength beyond the DXA-derived BMD and revealed pharmacotherapy effects, which are partly not captured by BMD. Therefore, high-resolution bone imaging using clinical MDCT and MRI may be beneficial for osteoporosis diagnostics and allow a highly sensitive monitoring of drug treatment, which plays an important role in the prevention of fragility fractures.

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

    PubMed

    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.

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

    PubMed Central

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

    2014-01-01

    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. PMID:24689080

  14. Ventilation/Perfusion SPECT for diagnostics of pulmonary embolism in clinical practice.

    PubMed

    Bajc, M; Olsson, B; Palmer, J; Jonson, B

    2008-10-01

    The aim of this retrospective study is to illustrate clinical utility and impact of pulmonary embolism (PE) diagnostics of up to date Ventilation/Perfusion SPECT (V/P (SPECT)) applying holistic interpretation criteria. During a 2-year period 2328 consecutive patients referred to V/P(SPECT) for clinically suspected PE were examined. Final diagnosis was established by physicians clinically responsible for patient care. To establish the performance of V/P(SPECT) negative for PE, patients were followed up by medical records for 6 months. Ventilation/Perfusion SPECT was feasible in 99% of the patients. Data for follow-up were available in 1785 patients (77%). PE was reported in 607 patients (34%). Normal pattern was described in 420 patients (25%). Pathology other than PE such as a pneumonia, left heart failure, obstructive lung disease, tumour was described in 724 patients (41%). Report was nondiagnostic in 19 patients (1%). Six cases were classified as falsely negative because PE was diagnosed at follow-up and was fatal in one case. Six cases were classified as falsely positive because the clinician decided not to treat. In 608 patients with final PE diagnosis, 601 patients had positive V/P(SPECT) (99%). In 1177 patients without final PE diagnosis 1153 patients had negative V/P(SPECT) (98%). Holistic interpretation of V/P(SPECT,) yields high negative and positive predictive values and only 1% of nondiagnostic findings and was feasible in 99% of patients. It is a responsibility and a challenge of nuclear medicine to provide optimal care of patients with suspected PE by making V/P(SPECT) available.

  15. The diagnostic validity of clinical airway assessments for predicting difficult laryngoscopy using a grey zone approach.

    PubMed

    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.

  16. Utility of additional tissue sections in dermatopathology: diagnostic, clinical and financial implications.

    PubMed

    Stuart, Lauren N; Rodriguez, Adrianna S; Gardner, Jerad M; Foster, Toby E; MacKelfresh, Jamie; Parker, Douglas C; Chen, Suephy C; Stoff, Benjamin K

    2014-02-01

    As histopathologic assessment is subject to sampling error, some institutions 'preorder' deeper sections on some or all cases (hereafter referred to as prospective deeper sections), while others order additional sections only when needed (hereafter referred to as retrospective deeper sections). We investigated how often additional sections changed a diagnosis and/or clinical management. Given the recent decrease in reimbursement for CPT-code 88305, we also considered the financial implications of ordering additional sections. Cases (n = 204) were assigned a preliminary diagnosis, based on review of the initial slide, and a final diagnosis, after reviewing additional sections. Cases with discordant diagnoses were assessed by two dermatologists, who indicated whether the change in diagnosis altered clinical management. Expenses were estimated for three scenarios: (a) no additional sections, (b) prospective deeper sections and (c) retrospective deeper sections. Diagnoses were modified in 9% of cases, which changed clinical management in 56% of these cases. Lesions obtained by punch-biopsy and inflammatory lesions were disproportionately overrepresented amongst cases with changed diagnoses (p < 0.001, p = 0.12, respectively). The cost of prospective deeper sections and retrospective deeper sections represented a 56% and 115% increase over base costs, respectively. Labor costs, particularly the cost of dermatopathologist evaluation, were the most significant cost-drivers. While additional sections improve diagnostic accuracy, they delay turn-around-time and increase expenditures. In our practice, prospective deeper sections are cost effective, however, this may vary by institution. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Diagnostics of Inherited Bleeding Disorders of Secondary Hemostasis: An Easy Guide for Routine Clinical Laboratories.

    PubMed

    Lippi, Giuseppe; Franchini, Massimo; Favaloro, Emmanuel J

    2016-07-01

    The investigation of inherited bleeding disorders of secondary hemostasis remains a challenge for most clinical laboratories, especially those that lack experience or specialized personnel. Bleeding can be essentially caused by a variety of acquired or congenital conditions, which impair either primary or secondary hemostasis. Since a universally agreed approach for the diagnostics of hemorrhagic disorders is still unavailable, this article aims to provide an easy guidance for routine clinical laboratories. This pragmatic approach to identifying and diagnosing inherited bleeding disorders of secondary hemostasis entails a multifaceted strategy, based on a collection of personal and family history, the results of first-line tests, which can then be followed by second- or third-line analyses to definitely establish the specific nature and the severity of the bleeding phenotype. Briefly, the presence of profound hemorrhages rather than mucocutaneous bleeding is suggestive of a disorder of secondary hemostasis. Although a positive family history is frequently reported in patients with congenital conditions, the lack of clinically meaningful symptoms in patient's relatives is not absolutely indicative of an acquired disorder. The next step encompasses the assessment of first-line coagulation tests (i.e., prothrombin time, activated partial thromboplastin time, and fibrinogen) if family history is not suggestive of a specific factor deficiency. The emergence of abnormal data of these assays and the variable combination of their results is then helpful to guide the performance of second-line tests, in particular specific factor assays, which will then provide a reasonable basis for a preliminary diagnosis. Third-line tests (namely, immunological assays of clotting factors and molecular biology) are then supportive for a final diagnosis and for identifying the nature of the factor deficiency (i.e., quantitative or functional). Thieme Medical Publishers 333 Seventh Avenue

  18. Idiopathic normal pressure hydrocephalus: diagnostic and predictive value of clinical testing, lumbar drainage, and CSF dynamics.

    PubMed

    Mahr, Cynthia V; Dengl, Markus; Nestler, Ulf; Reiss-Zimmermann, Martin; Eichner, Gerrit; Preuß, Matthias; Meixensberger, Jürgen

    2016-09-01

    OBJECTIVE The aim of the study was to analyze the diagnostic and predictive values of clinical tests, CSF dynamics, and intracranial pulsatility tests, compared with external lumbar drainage (ELD), for shunt response in patients with idiopathic normal pressure hydrocephalus (iNPH). METHODS Sixty-eight consecutive patients with suspected iNPH were prospectively evaluated. Preoperative assessment included clinical tests, overnight intracranial pressure (ICP) monitoring, lumbar infusion test (LIFT), and ELD for 24-72 hours. Simple and multiple linear regression analyses were conducted to identify predictive parameters concerning the outcome after shunt therapy. RESULTS Positive response to ELD correctly predicted improvement after CSF diversion in 87.9% of the patients. A Mini-Mental State Examination (MMSE) value below 21 was associated with nonresponse after shunt insertion (specificity 93%, sensitivity 67%). Resistance to outflow of CSF (ROut) > 12 mm Hg/ml/min was false negative in 21% of patients. Intracranial pulsatility parameters yielded different results in various parameters (correlation coefficient between pulse amplitude and ICP, slow wave amplitude, and mean ICP) but did not correlate to outcome. In multiple linear regression analysis, a calculation of presurgical MMSE versus the value after ELD, ROut, and ICP amplitude quotient during LIFT was significantly associated with outcome (p = 0.04). CONCLUSIONS Despite a multitude of invasive tests, presurgical clinical testing and response to ELD yielded the best prediction for improvement of symptoms following surgery. The complication rate of invasive testing was 5.4%. Multiple and simple linear regression analyses indicated that outcome can only be predicted by a combination of parameters, in accordance with a multifactorial pathogenesis of iNPH.

  19. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

    PubMed

    Peall, Kathryn J; Kurian, Manju A; Wardle, Mark; Waite, Adrian J; Hedderly, Tammy; Lin, Jean-Pierre; Smith, Martin; Whone, Alan; Pall, Hardev; White, Cathy; Lux, Andrew; Jardine, Philip E; Lynch, Bryan; Kirov, George; O'Riordan, Sean; Samuel, Michael; Lynch, Timothy; King, Mary D; Chinnery, Patrick F; Warner, Thomas T; Blake, Derek J; Owen, Michael J; Morris, Huw R

    2014-12-01

    Myoclonus dystonia syndrome (MDS) is a young-onset movement disorder. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. We assembled the largest cohort of MDS patients to date, and determined the frequency and type of SGCE mutations. The aim was to establish the motor phenotype in mutation carriers and utility of current diagnostic criteria. Eighty-nine probands with clinical features compatible with MDS were recruited from the UK and Ireland. Patients were phenotypically classified as "definite", "probable" or "possible" MDS according to previous guidelines. SGCE was analyzed using direct sequencing and copy number variant analysis. In those where no mutation was found, DYT1 (GAG deletion), GCH1, THAP1 and NKX2.1 genes were also sequenced. Nineteen (21.3%) probands had an SGCE mutation. Three patterns of motor symptoms emerged: (1) early childhood onset upper body myoclonus and dystonia, (2) early childhood onset lower limb dystonia, progressing later to more pronounced myoclonus and upper body involvement, and (3) later childhood onset upper body myoclonus and dystonia with evident cervical involvement. Five probands had large contiguous gene deletions ranging from 0.7 to 2.3 Mb in size with distinctive clinical features, including short stature, joint laxity and microcephaly. Our data confirms that SGCE mutations are most commonly identified in MDS patients with (1) age at onset ≤10 years and (2) predominant upper body involvement of a pure myoclonus-dystonia. Cases with whole SGCE gene deletions had additional clinical characteristics, which are not always predicted by deletion size or gene involvement.

  20. PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories.

    PubMed

    Doig, Kenneth D; Fellowes, Andrew; Bell, Anthony H; Seleznev, Andrei; Ma, David; Ellul, Jason; Li, Jason; Doyle, Maria A; Thompson, Ella R; Kumar, Amit; Lara, Luis; Vedururu, Ravikiran; Reid, Gareth; Conway, Thomas; Papenfuss, Anthony T; Fox, Stephen B

    2017-04-24

    The increasing affordability of DNA sequencing has allowed it to be widely deployed in pathology laboratories. However, this has exposed many issues with the analysis and reporting of variants for clinical diagnostic use. Implementing a high-throughput sequencing (NGS) clinical reporting system requires a diverse combination of capabilities, statistical methods to identify variants, global variant databases, a validated bioinformatics pipeline, an auditable laboratory workflow, reproducible clinical assays and quality control monitoring throughout. These capabilities must be packaged in software that integrates the disparate components into a useable system. To meet these needs, we developed a web-based application, PathOS, which takes variant data from a patient sample through to a clinical report. PathOS has been used operationally in the Peter MacCallum Cancer Centre for two years for the analysis, curation and reporting of genetic tests for cancer patients, as well as the curation of large-scale research studies. PathOS has also been deployed in cloud environments allowing multiple institutions to use separate, secure and customisable instances of the system. Increasingly, the bottleneck of variant curation is limiting the adoption of clinical sequencing for molecular diagnostics. PathOS is focused on providing clinical variant curators and pathology laboratories with a decision support system needed for personalised medicine. While the genesis of PathOS has been within cancer molecular diagnostics, the system is applicable to NGS clinical reporting generally. The widespread availability of genomic sequencers has highlighted the limited availability of software to support clinical decision-making in molecular pathology. PathOS is a system that has been developed and refined in a hospital laboratory context to meet the needs of clinical diagnostics. The software is available as a set of Docker images and source code at https://github.com/PapenfussLab/PathOS .

  1. Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

    PubMed

    Smith, Erica D; Radtke, Kelly; Rossi, Mari; Shinde, Deepali N; Darabi, Sourat; El-Khechen, Dima; Powis, Zöe; Helbig, Katherine; Waller, Kendra; Grange, Dorothy K; Tang, Sha; Farwell Hagman, Kelly D

    2017-05-01

    Ascertaining a diagnosis through exome sequencing can provide potential benefits to patients, insurance companies, and the healthcare system. Yet, as diagnostic sequencing is increasingly employed, vast amounts of human genetic data are produced that need careful curation. We discuss methods for accurately assessing the clinical validity of gene-disease relationships to interpret new research findings in a clinical context and increase the diagnostic rate. The specifics of a gene-disease scoring system adapted for use in a clinical laboratory are described. In turn, clinical validity scoring of gene-disease relationships can inform exome reporting for the identification of new or the upgrade of previous, clinically relevant gene findings. Our retrospective analysis of all reclassification reports from the first 4 years of diagnostic exome sequencing showed that 78% were due to new gene-disease discoveries published in the literature. Among all exome positive/likely positive findings in characterized genes, 32% were in genetic etiologies that were discovered after 2010. Our data underscore the importance and benefits of active and up-to-date curation of a gene-disease database combined with critical clinical validity scoring and proactive reanalysis in the clinical genomics era. © 2017 The Authors. **Human Mutation published by Wiley Periodicals, Inc.

  2. Disciplining Students with Disabilities

    ERIC Educational Resources Information Center

    Burton, Janieth

    2012-01-01

    Discipline in schools can be difficult, especially when dealing with students with disabilities. In fact, Clash (2006) reported that working with students with disabilities under stringent legal demands has become a source of stress for many principals. The typical principal has not received extensive preservice or inservice training in this area.…

  3. Disciplining Students with Disabilities

    ERIC Educational Resources Information Center

    Burton, Janieth

    2012-01-01

    Discipline in schools can be difficult, especially when dealing with students with disabilities. In fact, Clash (2006) reported that working with students with disabilities under stringent legal demands has become a source of stress for many principals. The typical principal has not received extensive preservice or inservice training in this area.…

  4. Teaching as Disciplined Enquiry

    ERIC Educational Resources Information Center

    Mason, John

    2009-01-01

    This paper is designed to raise issues around how we view teaching and some of the implication that has for thinking about teaching as a discipline. The paper is built around the concept of "noticing" from some of my earlier work and aims to push ideas about teaching in ways that are intended to provoke readers into thinking more deeply about how…

  5. Discipline in Your Classroom.

    ERIC Educational Resources Information Center

    Petty, Ray

    1988-01-01

    Discusses some of the principles of classroom management and discipline that can be used in the classroom. Includes avoiding distracting verbal exchanges, a management system, the use of verbal reprimand, room arrangements and isolation. Concludes that planning and attention to classroom management are worth the effort. (CW)

  6. Different Disciplines, Different Transitions

    ERIC Educational Resources Information Center

    Wood, Leigh; Solomonides, Ian

    2008-01-01

    There is not just one mathematics taught at university level, nor is there one group of students. Mathematics is taught differently depending on the discipline and the perceived background of the student. There is engineering mathematics for the students heading towards engineering degrees, life science mathematics for those heading towards…

  7. The Discipline Controversy Revisited.

    ERIC Educational Resources Information Center

    Baumrind, Diana

    1996-01-01

    Found that neither the authoritative model nor the liberal (permissive) model offers parents an efficacious model of childrearing. Each polarized model contains an element of truth, but each demonizes the other. Argues that within a responsive and supportive parent-child relationship, prudent use of punishment is a necessary tool in discipline.…

  8. Robotics technology discipline

    NASA Technical Reports Server (NTRS)

    Montemerlo, Melvin D.

    1990-01-01

    Viewgraphs on robotics technology discipline for Space Station Freedom are presented. Topics covered include: mechanisms; sensors; systems engineering processes for integrated robotics; man/machine cooperative control; 3D-real-time machine perception; multiple arm redundancy control; manipulator control from a movable base; multi-agent reasoning; and surfacing evolution technologies.

  9. "Validation": Mobilisation and Disciplination

    ERIC Educational Resources Information Center

    Andersson, Per

    2006-01-01

    This article presents an empirical example of what a process of mobilisation and disciplination could mean in practice. The example is taken from a "validation" initiative (recognition of prior learning) among a small group of unemployed people in Sweden. An ethnographic approach means that data were collected, mainly through…

  10. Student Conduct and Discipline.

    ERIC Educational Resources Information Center

    Oregon State Dept. of Education, Salem.

    To aid Oregon's school districts in developing policies and procedures for student conduct and discipline, this document suggests guidelines for district preparation and distribution of student conduct codes, including formal and informal student assembly, dress and grooming, use of motor vehicles, search and seizure, attendance, freedom of…

  11. Discipline for Discipleship.

    ERIC Educational Resources Information Center

    Peterson, Thomas

    1996-01-01

    Recent school discipline practices are not working and may be contributing to rising juvenile crime rates, prison populations, drug abuse, vandalism, and dropout and suspension rates. Today's teachers are expected to be disciplinarians. A call to discipleship demands that students become "little teachers" and that teachers evolve into…

  12. School Discipline Notebook.

    ERIC Educational Resources Information Center

    Purvis, Johnny; And Others

    To establish effective school discipline policies, educators need to understand (1) the nature of and reasons for misbehavior, (2) social and legal attitudes toward the school's disciplinary function, (3) acceptable responses to disciplinary problems, and (4) what effective policies cover. This booklet's first chapter considers the need for…

  13. Tradition, Discipline, Literary History

    ERIC Educational Resources Information Center

    Kargiotis, Dimitrios

    2007-01-01

    In its attempt to respond to changing historical realities the university has undergone significant transformations, most of which, however, have focused on teaching material, tools, methods or practices adapted to the new demands. Taking as a case study the literary disciplines, this article focuses on the theoretical, mostly implicit,…

  14. Gaming: An Emergent Discipline.

    ERIC Educational Resources Information Center

    Duke, Richard D.

    1995-01-01

    This personal narrative traces the background of instructional gaming from 1958 to 1995. The advantages and disadvantages of gaming as a disciplined activity are considered. The evolution of professional organizations, related academic activity, the game design process, and the need for consistent use of terms are addressed. Contains 57…

  15. Feminism across the Disciplines.

    ERIC Educational Resources Information Center

    Russell-Robinson, Joyce

    A course taught at St. Augustine's College uses "A Voice from the South" (1893) by Anna J. Cooper (a collection of essays representing women as being bold, in-charge decision makers) as an example of how "Feminism across the Disciplines" is expressed. These essays, as well as works of a number of other writers, can be used in…

  16. Assessment procedures for narcissistic personality disorder: a comparison of the personality diagnostic questionnaire-4 and best-estimate clinical judgments.

    PubMed

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

    2008-12-01

    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 examined the correlates created by each set of NPD scores using Cloninger's Temperament and Character Inventory (TCI). The NPD scores demonstrated areas of convergence (e.g., Cooperativeness, Self-directedness) and divergence (i.e., Harm Avoidance, Novelty Seeking) with these personality scores. These divergences may be due to the wording of certain items on the Personality Diagnostic Questionnaire-4 NPD scale, which may require rewriting if it is to provide an assessment that is more highly convergent with the Diagnostic and Statistical Manual of Mental Disorders NPD construct.

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

    PubMed Central

    Gigli, Marta; Begay, Rene L.; Morea, Gaetano; Graw, Sharon L.; Sinagra, Gianfranco; Taylor, Matthew R. G.; Granzier, Henk; Mestroni, Luisa

    2016-01-01

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

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

    NASA Astrophysics Data System (ADS)

    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

  19. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

    PubMed

    Anazi, S; Maddirevula, S; Faqeih, E; Alsedairy, H; Alzahrani, F; Shamseldin, H E; Patel, N; Hashem, M; Ibrahim, N; Abdulwahab, F; Ewida, N; Alsaif, H S; Al Sharif, H; Alamoudi, W; Kentab, A; Bashiri, F A; Alnaser, M; AlWadei, A H; Alfadhel, M; Eyaid, W; Hashem, A; Al Asmari, A; Saleh, M M; AlSaman, A; Alhasan, K A; Alsughayir, M; Al Shammari, M; Mahmoud, A; Al-Hassnan, Z N; Al-Husain, M; Osama Khalil, R; Abd El Meguid, N; Masri, A; Ali, R; Ben-Omran, T; El Fishway, P; Hashish, A; Ercan Sencicek, A; State, M; Alazami, A M; Salih, M A; Altassan, N; Arold, S T; Abouelhoda, M; Wakil, S M; Monies, D; Shaheen, R; Alkuraya, F S

    2017-04-01

    Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. In this study, we prospectively assessed the diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in a cohort of 337 ID subjects as a first-tier test and compared it with a standard clinical evaluation performed in parallel. Standard clinical evaluation suggested a diagnosis in 16% of cases (54/337) but only 70% of these (38/54) were subsequently confirmed. On the other hand, the genomic approach revealed a likely diagnosis in 58% (n=196). These included copy number variants in 14% (n=54, 15% are novel), and point mutations revealed by multi-gene panel and exome sequencing in the remaining 43% (1% were found to have Fragile-X). The identified point mutations were mostly recessive (n=117, 81%), consistent with the high consanguinity of the study cohort, but also X-linked (n=8, 6%) and de novo dominant (n=19, 13%). When applied directly on all cases with negative molecular karyotyping, the diagnostic yield of exome sequencing was 60% (77/129). Exome sequencing also identified likely pathogenic variants in three novel candidate genes (DENND5A, NEMF and DNHD1) each of which harbored independent homozygous mutations in patients with overlapping phenotypes. In addition, exome sequencing revealed de novo and recessive variants in 32 genes (MAMDC2, TUBAL3, CPNE6, KLHL24, USP2, PIP5K1A, UBE4A, TP53TG5, ATOH1, C16ORF90, SLC39A14, TRERF1, RGL1, CDH11, SYDE2, HIRA, FEZF2, PROCA1, PIANP, PLK2, QRFPR, AP3B2, NUDT2, UFC1, BTN3A2, TADA1, ARFGEF3, FAM160B1, ZMYM5, SLC45A1, ARHGAP33 and CAPS2), which we highlight as potential candidates on the basis of several lines of evidence, and one of these genes (SLC39A14) was biallelically inactivated in a potentially treatable form of hypermanganesemia and neurodegeneration. Finally, likely causal variants in previously published candidate genes were identified (ASTN1, HELZ, THOC6, WDR45B, ADRA

  20. Performance of physician-certified verbal autopsies: multisite validation study using clinical diagnostic gold standards

    PubMed Central

    2011-01-01

    Background Physician review of a verbal autopsy (VA) and completion of a death certificate remains the most widely used approach for VA analysis. This study provides new evidence about the performance of physician-certified verbal autopsy (PCVA) using defined clinical diagnostic criteria as a gold standard for a multisite sample of 12,542 VAs. The study was also designed to analyze issues related to PCVA, such as the impact of a second physician reader on the cause of death assigned, the variation in performance with and without household recall of health care experience (HCE), and the importance of local information for physicians reading VAs. Methods The certification was performed by 24 physicians. The assignment of VA was random and blinded. Each VA was certified by one physician. Half of the VAs were reviewed by a different physician with household recall of health care experience included. The completed death certificate was processed for automated ICD-10 coding of the underlying cause of death. PCVA was compared to gold standard cause of death assignment based on strictly defined clinical diagnostic criteria that are part of the Population Health Metrics Research Consortium (PHMRC) gold standard verbal autopsy study. Results For individual cause assignment, the overall chance-corrected concordance for PCVA against the gold standard cause of death is less than 50%, with substantial variability by cause and physician. Physicians assign the correct cause around 30% of the time without HCE, and addition of HCE improves performance in adults to 45% and slightly higher in children to 48%. Physicians estimate cause-specific mortality fractions (CSMFs) with considerable error for adults, children, and neonates. Only for neonates for a cause list of six causes with HCE is accuracy above 0.7. In all three age groups, CSMF accuracy improves when household recall of health care experience is available. Conclusions Results show that physician coding for cause of death

  1. Rapid diagnostic tests versus clinical diagnosis for managing people with fever in malaria endemic settings.

    PubMed

    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

  2. Rapid Diagnostic Tests for Identifying Avian Influenza A(H7N9) Virus in Clinical Samples

    PubMed Central

    Chen, Yu; Wang, Dayan; Zheng, Shufa; Shu, Yuelong; Chen, Wenxiang; Cui, Dawei; Li, Jinming; Yu, Hongjie; Wang, Yu; Li, Lanjuan

    2015-01-01

    To determine sensitivity of rapid diagnostic tests for detecting influenza A(H7N9) virus, we compared rapid tests with PCR results and tested different types of clinical samples. Usefulness of seasonal influenza rapid tests for A(H7N9) virus infections is limited because of their low sensitivity for detecting virus in upper respiratory tract specimens. PMID:25529064

  3. 42 CFR 414.509 - Reconsideration of basis for and amount of payment for a new clinical diagnostic laboratory test.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 42 Public Health 3 2012-10-01 2012-10-01 false Reconsideration of basis for and amount of payment for a new clinical diagnostic laboratory test. 414.509 Section 414.509 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICARE...

  4. 42 CFR 414.506 - Procedures for public consultation for payment for a new clinical diagnostic laboratory test.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 42 Public Health 3 2012-10-01 2012-10-01 false Procedures for public consultation for payment for a new clinical diagnostic laboratory test. 414.506 Section 414.506 Public Health CENTERS FOR... establishing payment amounts for the list of codes made available to the public. (c) Not fewer than 30...

  5. 42 CFR 414.509 - Reconsideration of basis for and amount of payment for a new clinical diagnostic laboratory test.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 3 2010-10-01 2010-10-01 false Reconsideration of basis for and amount of payment for a new clinical diagnostic laboratory test. 414.509 Section 414.509 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICARE PROGRAM...

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

    PubMed

    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. Copyright © 2016 Elsevier Ltd. All rights reserved.

  7. Rapid enzyme analysis as a diagnostic tool for wound infection: Comparison between clinical judgment, microbiological analysis, and enzyme analysis.

    PubMed

    Blokhuis-Arkes, Miriam H E; Haalboom, Marieke; van der Palen, Job; Heinzle, Andrea; Sigl, Eva; Guebitz, Georg; Beuk, Roland

    2015-01-01

    In clinical practice, diagnosis of wound infection is based on the classical clinical signs of infection. When infection is suspected, wounds are often swabbed for microbiological culturing. These methods are not accurate (clinical judgment in chronic wounds) or provide results after several days (wound swab). Therefore, there is an urgent need for an easy-to-use diagnostic tool for fast detection of wound infection, especially in chronic wounds. This study determined the diagnostic properties of the enzymes myeloperoxidase, human neutrophil elastase (HNE), lysozyme and cathepsin-G in detecting wound infection when compared to wound swabs. Both chronic and acute wounds of 81 patients were assessed through clinical judgment, enzyme analysis and wound swab. Three promising enzyme models for detecting wound infection were identified. A positive test was defined as: at least one enzyme positive after 30 minutes (model 1), lysozyme and HNE positive after 30 minutes (model 2), myeloperoxidase positive after 5 minutes, and HNE or lysozyme positive after 30 minutes (model 3). All models were significant (p≤0.001). There was no correlation between clinical judgment and wound swab, indicating the need for novel diagnostic systems. Enzyme analysis is fast, easy to use and superior to clinical judgment when compared to wound swabs. © 2015 by the Wound Healing Society.

  8. High Diagnostic Yield of Whole Exome Sequencing in Participants with Retinal Dystrophies in a Clinical Ophthalmology Setting

    PubMed Central

    Lee, Kristy; Berg, Jonathan S.; Milko, Laura; Crooks, Kristy; Lu, Mei; Bizon, Chris; Owen, Phillips; Wilhelmsen, Kirk C.; Weck, Karen E.; Evans, James P.; Garg, Seema

    2015-01-01

    Purpose To assess the diagnostic yield and the practicality of implementing whole exome sequencing within a clinical ophthalmology setting. Design Evaluation of a diagnostic protocol. Methods Setting Patient participants were enrolled during clinical appointments in a university based Ophthalmic Genetics clinic. Patient Population Twenty-six patients with a variety of presumed hereditary retinal dystrophies. Intervention: Participants were offered whole exome sequencing in addition to clinically available sequencing gene panels between July 2012 and January 2013 to determine the molecular etiology of their retinal dystrophy. Main Outcome Measures Diagnostic yield and acceptability of whole exome sequencing in patients with retinal disorders. Results Twenty-six of 29 (~90%) eligible patients who were approached opted to undergo molecular testing. Each participant chose whole exome sequencing in addition to, or in lieu of, clinically available sequencing gene panels. Time to obtain informed consent was manageable in the clinical context. Whole exome sequencing successfully identified known pathogenic mutations or suspected deleterious variants in 57.7% of participants. Additionally, one participant had 2 autosomal dominant medically actionable incidental findings (unrelated to retinopathy) that were reported to enable the participant to take preventive action and reduce risk for future disease. Conclusions In this study, we identified the molecular etiology for more than half of all participants. Additionally, we found that participants were widely accepting of whole exome sequencing and the possibility of being informed about medically actionable incidental findings. PMID:25910913

  9. Developing a science of clinical utility in diagnostic classification systems field study strategies for ICD-11 mental and behavioral disorders.

    PubMed

    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 (c) 2016 APA, all rights reserved).

  10. [The preoperative staging of rectal neoplasms: the clinical exam and diagnostic imaging].

    PubMed

    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.

  11. Perspectives offered by single-domain antibodies in clinical diagnostic of pediatric tumors.

    PubMed

    de Marco, A

    2013-01-01

    The results accrued in the last few years have clearly showed that recombinant antibodies, and specifically single- domain antibodies, represent valid alternatives to conventional IgGs for in vivo imaging. It does not simply mean that antibody fragments can substitute full-length antibodies, but that they are substantially more suitable for some applications and can perform other functions for which no real alternative is available. Brain imaging with multi-functional probes is an evident example, but the promising results obtained with micro-PET and -SPECT in murine models could lead in short time to a revolutionary change in clinical diagnostics. Brilliant applications of single-domain antibody-dependent imaging have enabled us to understand how the tracer mass and avidity can be engineered to modulate pharmacokinetic features such as clearance, tumor penetration, and binding affinity with the aim of optimizing specific responses. The potential of these reagents and the increasing interest for them is evidenced by the exponential growth of publications and the multiplication of the proposed applications in which they are used. This review wishes to provide an update of this fast moving subject and to indicate what may be the next foreseeable technical progress.

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

    PubMed

    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.

  13. Chromogranin A – unspecific neuroendocrine marker. Clinical utility and potential diagnostic pitfalls

    PubMed Central

    Czarnywojtek, Agata; Fischbach, Jakub; Bączyk, Maciej; Ziemnicka, Katarzyna; Wrotkowska, Elżbieta; Gryczyńska, Maria; Ruchała, Marek

    2016-01-01

    Chromogranin A, despite a number of limitations, is still the most valuable marker of neuroendocrine tumors (NETs). Granins belong to the family of acidic proteins that constitute a major component of secretory granules of various endocrine and neuroendocrine cells, which are components of both the classical endocrine glands and the diffuse neuroendocrine system. These cells are a potential source of transformation into neuroendocrine tumors. The awareness of potential causes influencing the false results of its concentrations simplifies diagnosis and treatment. One of the disadvantages of this marker is its non-specificity and the existence of a number of pathological processes leading to an increase in its concentration, which often results in confusion and diagnostic difficulties. The molecular structure is characterized by a number of sites susceptible to the proteolytic activity of enzymes, resulting in the formation of a number of biologically active peptides. Presumably they act as precursors of active proteins. Chromogranin expression correlates with the amount of secretory vesicles in neuroendocrine cells. The peptide chain during biochemical changes becomes a precursor of biologically active proteins with a wide range of activities. There are a number of commercially available kits for the determination of chromogranin A, which differ in methodology. We present the evaluation of chromogranin A as a marker of neuroendocrine tumors in clinical practice and the possible factors that may affect the outcome of its concentration. PMID:26925113

  14. [Usefulness of clinical data and rapid diagnostic tests to identify bacterial etiology in adult respiratory infections].

    PubMed

    Toledano-Sierra, Pilar; Arriola-Hernández, Maite; Orueta-Sánchez, Ramón

    2015-01-19

    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.

  15. The urgent need for clinical, diagnostic, and operational research for management of Buruli ulcer in Africa.

    PubMed

    O'Brien, Daniel P; Comte, Eric; Serafini, Micaela; Ehounou, Geneviève; Antierens, Annick; Vuagnat, Hubert; Christinet, Vanessa; Hamani, Mitima D; du Cros, Philipp

    2014-05-01

    Despite great advances in the diagnosis and treatment of Buruli ulcer, it is one of the least studied major neglected tropical diseases. In Africa, major constraints in the management of Buruli ulcer relate to diagnosis and treatment, and accessibility, feasibility, and delivery of services. In this Personal View, we outline key areas for clinical, diagnostic, and operational research on this disease in Africa and propose a research agenda that aims to advance the management of Buruli ulcer in Africa. A model of care is needed to increase early case detection, to diagnose the disease accurately, to simplify and improve treatment, to reduce side-effects of treatment, to deal with populations with HIV and tuberculosis appropriately, to decentralise care, and to scale up coverage in populations at risk. This approach will require commitment and support to strategically implement research by national Buruli ulcer programmes and international technical and donor organisations, combined with adaptations in programme design and advocacy. A critical next step is to build consensus for a research agenda with WHO and relevant groups experienced in Buruli ulcer care or related diseases, and we call on on them to help to turn this agenda into reality.

  16. Limited mouth opening of unknown cause cured by diagnostic coronoidectomy: a new clinical entity?

    PubMed

    Lehman, H; Fleissig, Y; Abid-el-raziq, D; Nitzan, D W

    2015-03-01

    Limited mouth opening is a constant annoyance and can be life-threatening should intubation be needed. The causes are numerous and are categorised as intra-articular or extra-articular, which are often difficult to distinguish. We present what we regard as a new clinical entity - long-standing limited mouth opening of unknown cause - and describe our treatment. Four female patients presented with limited mouth opening and lateral and protrusive movements within normal limits, which were typical of restriction of extra-articular origin. However, the radiological findings were within normal limits, with no visible cause of the restriction. All four were treated by bilateral coronoidectomy that resulted in the immediate return of mouth opening to within normal limits that was preserved over subsequent years. Histopathological examination showed atrophy and degenerative changes in the temporalis band that had been attached to the coronoid, which accounts for the stiffness of the temporalis muscle but does not explain the pathogenesis. In the light of this "diagnostic coronoidectomy" further studies are required to document the underlying pathological changes and to develop more accurate imaging that will enable correct diagnosis in future.

  17. Accounting for isotopic clustering in Fourier transform mass spectrometry data analysis for clinical diagnostic studies.

    PubMed

    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. A clinically feasible multiplex proteomic immunoassay as a novel functional diagnostic for pancreatic ductal adenocarcinoma

    PubMed Central

    Lim, Kian-Huat; Langley, Emma; Gao, Feng; Luo, Jingqin; Li, Lin; Meyer, Gary; Kim, Phillip; Singh, Sharat; Kushnir, Vladamir M.; Early, Dayna S.; Mullady, Daniel K.; Edmundowicz, Steven A.; Wani, Sachin; Murad, Faris M.; Cao, Dengfeng; Azar, Riad R.; Wang-Gillam, Andrea

    2017-01-01

    To date, targeted therapy for pancreatic ductal adenocarcinoma (PDAC) remains largely unsuccessful in the clinic. Current genomics-based technologies are unable to reflect the quantitative, dynamic signaling changes in the tumor, and require larger tumor samples that are difficult to obtain in PDAC patients. Therefore, a highly sensitive functional tool that can reliably and comprehensively inform intra-tumoral signaling events is direly needed to guide treatment decision. We tested the utility of a highly sensitive proteomics-based functional diagnostic platform, Collaborative Enzyme Enhanced Reactive-immunoassay (CEERTM), on fine-needle aspiration (FNA) samples obtained from 102 patients with radiographically-evident pancreatic tumors. Two FNA passes were collected from each patient, hybridized to customized chips coated with an array of capture antibodies, and detected using two enzyme-conjugated antibodies which emit quantifiable signals. We demonstrate that this technique is highly sensitive in detecting total and phosphorylated forms of multiple signaling molecules in FNA specimens, with reasonable correlation of marker intensities between two different FNA passes. Notably, signals of several markers were significantly higher in PDAC compared to non-cancerous samples. In PDAC samples, we found high total c-Met signal to be associated with poor survival, and confirmed this finding using an independent PDAC tissue microarray. PMID:28445954

  19. The added clinical and economic value of diagnostic testing for epilepsy surgery.

    PubMed

    Hinde, Sebastian; Soares, Marta; Burch, Jane; Marson, Anthony; Woolacott, Nerys; Palmer, Stephen

    2014-05-01

    The costs, benefits and risks associated with diagnostic imaging investigations for epilepsy surgery necessitate the identification of an optimal pathway in the pre-surgical workup. In order to assess the added value of additional investigations a full cost-effectiveness evaluation should be conducted, taking into account all of the life-time costs and benefits associated with undertaking additional investigations. This paper considers and applies the appropriate framework against which a full evaluation should be assessed. We conducted a systematic review to evaluate the progression of the literature through this framework, finding that only isolated elements of added value have been appropriately evaluated. The results from applying the full added value framework are also presented, identifying an optimal strategy for pre-surgical evaluation for temporal lobe epilepsy surgery. Our results suggest that additional FDG-PET and invasive EEG investigations after an initially discordant MRI and video-EEG appears cost-effective, and that the value of subsequent invasive-EEGs is closely linked to the maintenance of longer-term benefits after surgery. It is integral to the evaluation of imaging technologies in the work-up for epilepsy surgery that the impact of the use of these technologies on clinical decision-making, and on further treatment decisions, is considered fully when informing cost-effectiveness.

  20. Impact of Clinical Symptoms on Interpretation of Diagnostic Assays for Clostridium difficile Infections▿

    PubMed Central

    Dubberke, Erik R.; Han, Zhuolin; Bobo, Linda; Hink, Tiffany; Lawrence, Brenda; Copper, Susan; Hoppe-Bauer, Joan; Burnham, Carey-Ann D.; Dunne, William Michael

    2011-01-01

    Asymptomatic Clostridium difficile colonization is common in hospitalized patients. Existing C. difficile assay comparisons lack data on severity of diarrhea or patient outcomes, limiting the ability to interpret their results in regard to the diagnosis of C. difficile infection (CDI). The objective of this study was to measure how including patient presentation with the C. difficile assay result impacted assay performance to diagnose CDI. Stool specimens from 150 patients that met inclusion and exclusion criteria were selected. Nine methods to detect C. difficile in stool were evaluated. All patients were interviewed prospectively to assess diarrhea severity. We then assessed how different reference standards, with and without the inclusion of patient presentation, impact the sensitivity, specificity, and positive and negative predictive values of the assays to diagnose CDI. There were minimal changes in sensitivity; however, specificity was significantly lower for the assays Tox A/B II, C. diff Chek-60, BD GeneOhm Cdiff, Xpert C. difficile, and Illumigene C. difficile and for toxigenic culture (P was <0.01 for all except Tox A/B II from fresh stool, for which the P value was 0.016) when the reference standard was recovery of toxigenic C. difficile from stool plus the presence of clinically significant diarrhea compared to when the reference standard was having at least four assays positive while ignoring diarrhea severity. There were 15 patients whose assay result was reported as negative but subsequently found to be positive by at least four assays in the comparison. None suffered from any CDI-related adverse events. In conclusion, clinical presentation is important when interpreting C. difficile diagnostic assays. PMID:21697328

  1. Optical diagnostics based on elastic scattering: An update of clinical demonstrations with the Optical Biopsy System

    SciTech Connect

    Bigio, I.J.; Boyer, J.; Johnson, T.M.; Lacey, J.; Mourant, J.R.; Conn, R.; Bohorfoush, A.

    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.

  2. An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool.

    PubMed

    Miscevic, Filip; Foong, Justin; Schmitt, Benjamin; Blaser, Susan; Brudno, Michael; Schulze, Andreas

    2016-12-01

    Proton magnetic resonance spectroscopy (MRspec), one of the very few techniques for in vivo assessment of neuro-metabolic profiles, is often complicated by lack of standard population norms and paucity of computational tools. 7035 scans and clinical information from 4430 pediatric patients were collected from 2008 to 2014. Scans were conducted using a 1.5T (n=3664) or 3T scanner (n=3371), and with either a long (144ms, n=5559) or short echo time (35ms, n=1476). 3055 of these scans were localized in the basal ganglia (BG), 1211 in parieto-occipital white matter (WM). 34 metabolites were quantified using LCModel. A web application using MySQL, Python and Flask was developed to facilitate the exploration of the data set. Already piloting the application revealed numerous insights. (1), N-acetylaspartate (NAA) increased throughout all ages. During early infancy, total choline was highly varied and myo-inositol demonstrated a downward trend. (2), Total creatine (tCr) and creatine increased throughout childhood and adolescence, though phosphocreatine (PCr) remained constant beyond 200days. (3), tCr was higher in BG than WM. (4), No obvious gender-related differences were observed. (5), Field strength affects quantification using LCModel for some metabolites, most prominently for tCr and total NAA. (6), Outlier analysis identified patients treated with vigabatrin through elevated γ-aminobutyrate, and patients with Klippel-Feil syndrome, Leigh disease and L2-hydroxyglutaric aciduria through low choline in BG. We have established the largest MRSpec database and developed a robust and flexible computational tool for facilitating the exploration of vast metabolite datasets that proved its value for discovering neurochemical trends for clinical diagnosis, treatment monitoring, and research. Open access will lead to its widespread use, improving the diagnostic yield and contributing to better understanding of metabolic processes and conditions in the brain. Copyright © 2016

  3. Comparisons of Three Automated Systems for Genomic DNA Extraction in a Clinical Diagnostic Laboratory

    PubMed Central

    Lee, Jong-Han; Park, Yongjung; Choi, Jong Rak; Lee, Eun Kyung

    2010-01-01

    Purpose The extraction of nucleic acid is initially a limiting step for successful molecular-based diagnostic workup. This study aims to compare the effectiveness of three automated DNA extraction systems for clinical laboratory use. Materials and Methods Venous blood samples from 22 healthy volunteers were analyzed using QIAamp® Blood Mini Kit (Qiagen), MagNA Pure LC Nucleic Acid Isolation Kit I (Roche), and Magtration-Magnazorb DNA common kit-200N (PSS). The concentration of extracted DNAs was measured by NanoDrop ND-1000 (PeqLab). Also, extracted DNAs were confirmed by applying in direct agarose gel electrophoresis and were amplified by polymerase chain reaction (PCR) for human beta-globin gene. Results The corrected concentrations of extracted DNAs were 25.42 ± 8.82 ng/µL (13.49-52.85 ng/µL) by QIAamp® Blood Mini Kit (Qiagen), and 22.65 ± 14.49 ng/µL (19.18-93.39 ng/µL) by MagNA Pure LC Nucleic Acid Isolation Kit I, and 22.35 ± 6.47 ng/µL (12.57-35.08 ng/µL) by Magtration-Magnazorb DNA common kit-200N (PSS). No statistically significant difference was noticed among the three commercial kits (p > 0.05). Only the mean value of DNA purity through PSS was slightly lower than others. All the extracted DNAs were successfully identified in direct agarose gel electrophoresis. And all the product of beta-globin gene PCR showed a reproducible pattern of bands. Conclusion The effectiveness of the three automated extraction systems is of an equivalent level and good enough to produce reasonable results. Each laboratory could select the automated system according to its clinical and laboratory conditions. PMID:20046522

  4. Incidence and clinical variables associated with streptococcal throat infections: a prospective diagnostic cohort study

    PubMed Central

    Little, Paul; Hobbs, FD Richard; Mant, David; McNulty, Cliodna AM; Mullee, Mark

    2012-01-01

    Background Management of pharyngitis is commonly based on features which are thought to be associated with Lancefield group A beta-haemolytic streptococci (GABHS) but it is debatable which features best predict GABHS. Non-group A strains share major virulence factors with group A, but it is unclear how commonly they present and whether their presentation differs. Aim To assess the incidence and clinical variables associated with streptococcal infections. Design and setting Prospective diagnostic cohort study in UK primary care. Method The presence of pathogenic streptococci from throat swabs was assessed among patients aged ≥5 years presenting with acute sore throat. Results Pathogenic streptococci were found in 204/597 patients (34%, 95% CI = 31 to 38%): 33% (68/204) were non-group A streptococci, mostly C (n = 29), G (n = 18) and B